ALXDRD
MCID: ALX003
MIFTS: 63

Alexander Disease (ALXDRD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Alexander Disease

MalaCards integrated aliases for Alexander Disease:

Name: Alexander Disease 57 11 24 19 42 52 58 75 73 28 12 5 43 14 71 33
Alexander's Disease 11 42 73 38
Alexanders Leukodystrophy 19 71
Alxdrd 57 73
Axd 42 58
Megalencephaly in Infancy Accompanied by Progressive Spasticity and Dementia 19
Fibrinoid Degeneration of Astrocytes 42
Leukodystrophy with Rosenthal Fibers 42
Dysmyelinogenic Leukodystrophy 42
Demyelinogenic Leukodystrophy 42
Alexander's Leukodystrophy 33
Alexander Disease Type Ii 58
Alexander Disease Type I 58
Alexanders Disease 53
Axd Type Ii 58
Axd Type I 58
Alx 42

Characteristics:


Inheritance:

Alexander Disease: Autosomal dominant 58 57
Alexander Disease Type Ii: Autosomal dominant 58

Prevelance:

<1/1000000 (Japan) 58

Age Of Onset:

Alexander Disease: All ages 58
Alexander Disease Type Ii: Adolescent,Adult,Childhood 58
Alexander Disease Type I: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
average age of onset 6 months (range birth - 2 years)
death by age 5 (infantile form)
three variants distinguished by age of onset - infantile (onset before age 2), juvenile (onset in childhood), and adult
juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis


GeneReviews:

24
Penetrance Penetrance appears to be nearly 100% in individuals with the infantile and juvenile forms [li et al 2002, messing & brenner 2003a, messing 2018]....

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Alexander Disease

MedlinePlus Genetics: 42 Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses. If myelin is not properly maintained, the transmission of nerve impulses could be disrupted. As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired.Most cases of Alexander disease begin before age 2 and are described as the infantile form. Signs and symptoms of the infantile form typically include an enlarged brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), intellectual disability, and developmental delay. Less frequently, onset occurs later in childhood (the juvenile form) or in adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, seizures, and poor coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs within the first month of life and is associated with severe intellectual disability and developmental delay, a buildup of fluid in the brain (hydrocephalus), and seizures.Alexander disease is also characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord (central nervous system).

MalaCards based summary: Alexander Disease, also known as alexander's disease, is related to leukodystrophy and multiple system atrophy 1, and has symptoms including seizures and muscle spasticity. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Signaling by Receptor Tyrosine Kinases and Neuroscience. The drug Metronidazole has been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and eye, and related phenotypes are macrocephaly and intellectual disability

NINDS: 52 Alexander disease is one of a group of neurological conditions known as the leukodystrophies.  Leukodystrophies are disorders that result from abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. In Alexander disease, the destruction of white matter is accompanied by the formation of Rosenthal fibers--abnormal clumps of protein that accumulate in non-nerve cells (astrocytes) in the brain.  The most common type of Alexander disease is the infantile form that usually begins during the first two years of life.  Symptoms include mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease has an onset between the ages of two and thirteen years.  These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control.  Adult-onset forms of Alexander disease are less common.  The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.  Alexander disease is a progressive and often fatal disease.

GARD: 19 Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, intellectual disability, and delayed physical development. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination. Alexander disease is caused by genetic changes in the GFAP gene. While this condition is inherited in an autosomal dominant fashion, most cases result from new genetic changes in the gene.

OMIM®: 57 In decreasing order of frequency, 3 forms of Alexander disease (ALXDRD) are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene. (203450) (Updated 08-Dec-2022)

Orphanet 58 Alexander disease: A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death.

Alexander disease type i: An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration.

Alexander disease type ii: An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms.

UniProtKB/Swiss-Prot: 73 A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.

Disease Ontology: 11 A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes.

Wikipedia: 75 Alexander disease is a very rare autosomal dominant leukodystrophy, which are neurological conditions... more...

GeneReviews: NBK1172

Related Diseases for Alexander Disease

Diseases related to Alexander Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 258, show less)
# Related Disease Score Top Affiliating Genes
1 leukodystrophy 31.8 PLP1 NDUFV1 GFAP CRYAB CRYAA
2 multiple system atrophy 1 30.2 RPS27A HTT GFAP CRYAB
3 movement disease 30.1 VIM RPS27A HTT GFAP
4 supranuclear palsy, progressive, 1 30.0 RPS27A HTT GFAP
5 ischemia 29.9 SLC1A2 MAPK14 HSPB1 GFAP CASP3
6 cerebral degeneration 29.9 PLP1 GFAP CRYAA
7 status epilepticus 29.8 SLC1A2 MTOR GFAP CASP3
8 central nervous system disease 29.7 PLP1 GFAP CRYAB CRYAA
9 motor neuron disease 29.6 SLC1A2 RPS27A HTT HSPB1 CRYAA
10 parkinson disease, late-onset 29.3 RPS27A MTOR MAPK14 HTT HSPB1 CRYAA
11 myopathy 28.9 VIM SYNM RPS27A PLEC NDUFV1 HTT
12 alzheimer disease, familial, 1 28.5 SLC1A2 RPS27A PLP1 MTOR MAPK14 HTT
13 amyotrophic lateral sclerosis 1 28.5 SLC1A2 RPS27A MTOR KCNJ10 HTT HSPB3
14 megalencephaly 10.4
15 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.4
16 spasticity 10.4
17 glioma susceptibility 1 10.3
18 pathologic nystagmus 10.3
19 myoclonus 10.3
20 exudative vitreoretinopathy 4 10.3 VIM MTOR
21 clear cell ependymoma 10.3 VIM GFAP
22 progressive bulbar palsy 10.3
23 tremor 10.3
24 myopathy, myofibrillar, 3 10.3 SYNM PLEC CRYAB
25 early-onset lamellar cataract 10.3 CRYAB CRYAA
26 epidermolysis bullosa simplex 5a, ogna type 10.2 SYNM PLEC
27 cataract 16, multiple types 10.2 CRYAB CRYAA
28 epithelial basement membrane dystrophy 10.2 SYNM PLEC
29 subependymal giant cell astrocytoma 10.2 MTOR GFAP CRYAB
30 hypotonia 10.2
31 adult respiratory distress syndrome 10.2
32 myopathy, myofibrillar, 2 10.2 PLEC CRYAB CRYAA
33 rhabdoid meningioma 10.2 VIM GFAP
34 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 SYNM PLEC
35 adult syndrome 10.2
36 encephalomalacia 10.2 SLC1A2 GFAP CASP3
37 spinal and bulbar muscular atrophy, x-linked 1 10.1 HTT HDAC6 CRYAA
38 aceruloplasminemia 10.1
39 scoliosis 10.1
40 megalencephalic leukoencephalopathy with subcortical cysts 10.1
41 parkinsonism 10.1
42 hydrocephalus 10.1
43 paraplegia 10.1
44 myopathy, myofibrillar, 1 10.1 SYNM RPS27A PLEC CRYAB
45 retinal ischemia 10.1 HSPB1 GFAP CRYAA CASP3
46 early-onset nuclear cataract 10.1 CRYAB CRYAA
47 charcot-marie-tooth disease, axonal, type 2l 10.1 HSPB3 HSPB1 CRYAA
48 sexual sadism 10.1 HSPB3 HSPB2 HSPB1
49 respiratory syncytial virus infectious disease 10.1
50 astroblastoma 10.1 VIM GFAP
51 toxic encephalopathy 10.1 SLC1A2 HTT GFAP CASP3
52 hydrocephalus, congenital, 1 10.1
53 west syndrome 10.1
54 brain stem glioma 10.1
55 dystonia 10.1
56 glioma 10.1
57 pure autonomic failure 10.1
58 encephalopathy 10.1
59 glial tumor 10.1
60 leigh syndrome 10.1
61 basal ganglia calcification 10.1
62 hemimegalencephaly 10.1
63 developmental and epileptic encephalopathy 35 10.1 SLC1A2 KCNJ10
64 myofibrillar myopathy 10.1 SYNM PLEC HSPB1 CRYAB CRYAA
65 intraocular pressure quantitative trait locus 10.1 HSPB2 HSPB1 CRYAB CRYAA
66 charcot-marie-tooth disease, axonal, type 2f 10.0 HSPB3 HSPB1 HDAC6 CRYAA
67 frontonasal dysplasia 1 10.0
68 polydactyly 10.0
69 pulmonary edema 10.0
70 pick disease of brain 10.0 RPS27A HTT GFAP CRYAB CASP3
71 neuronopathy, distal hereditary motor, type iic 10.0 HSPB3 HSPB2 CRYAB CRYAA
72 anorexia nervosa 10.0
73 spastic paraplegia 7, autosomal recessive 10.0
74 sleep apnea 10.0
75 spastic ataxia 10.0
76 mild cognitive impairment 10.0
77 hemiplegia 10.0
78 visual epilepsy 10.0
79 lateral sclerosis 10.0
80 hereditary spastic paraplegia 10.0
81 adrenal carcinoma 10.0
82 intracranial hypertension 10.0
83 spastic paraparesis 10.0
84 dysautonomia 10.0
85 epidermolysis bullosa simplex 5b, with muscular dystrophy 10.0 SYNM PLEC
86 atherosclerosis susceptibility 9.9
87 hypertelorism 9.9
88 keratitis, hereditary 9.9
89 polydactyly, preaxial i 9.9
90 rheumatoid arthritis 9.9
91 cystic fibrosis 9.9
92 sjogren syndrome 9.9
93 asthma 9.9
94 frontonasal dysplasia 3 9.9
95 aspergillosis 9.9
96 cerebral artery occlusion 9.9
97 short bowel syndrome 9.9
98 gastric antral vascular ectasia 9.9
99 endometriosis 9.9
100 arthritis 9.9
101 infectious encephalitis 9.9
102 immune-mediated thrombotic thrombocytopenic purpura 9.9
103 neuromuscular disease 9.9 PLEC HTT HSPB1 HDAC6 CRYAB CRYAA
104 machado-joseph disease 9.9 RPS27A HTT HSPB2 HSPB1 BLZF1
105 creutzfeldt-jakob disease 9.9 RPS27A HTT HSPB1 GFAP CRYAB CRYAA
106 multiple sclerosis 9.9
107 factor vii deficiency 9.9
108 papillon-lefevre syndrome 9.9
109 metachromatic leukodystrophy 9.9
110 adrenoleukodystrophy 9.9
111 aplastic anemia 9.9
112 hypopigmentation, organomegaly, and delayed myelination and development 9.9
113 aspiration pneumonia 9.9
114 thrombotic thrombocytopenic purpura 9.9
115 spastic hemiplegia 9.9
116 pancytopenia 9.9
117 megaesophagus 9.9
118 focal epilepsy 9.9
119 cerebellar disease 9.9
120 glioblastoma 9.9
121 high grade glioma 9.9
122 purpura 9.9
123 lactic acidosis 9.9
124 pilocytic astrocytoma 9.9
125 febrile seizures 9.9
126 distal hereditary motor neuronopathy type 2 9.9 HSPB3 HSPB2 HSPB1 CRYAB CRYAA
127 rett syndrome 9.9 MTOR KCNJ10 HTT HDAC6
128 dilated cardiomyopathy 9.8 PLEC MTOR MAPK14 CRYAB CRYAA CASP3
129 cataract 9.8 VIM HSPB2 HSPB1 CRYAB CRYAA CASP3
130 gastroesophageal reflux 9.8
131 cone-rod dystrophy 2 9.8
132 seizures, benign familial neonatal, 1 9.8
133 laryngomalacia 9.8
134 spinocerebellar ataxia 6 9.8
135 hypothyroidism, congenital, nongoitrous, 2 9.8
136 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
137 krabbe disease 9.8
138 canavan disease 9.8
139 thyrotropin-releasing hormone deficiency 9.8
140 fragile x tremor/ataxia syndrome 9.8
141 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.8
142 pelizaeus-merzbacher disease 9.8
143 frontotemporal dementia 9.8
144 hypothyroidism, congenital, nongoitrous, 3 9.8
145 adrenal cortical carcinoma 9.8
146 fragile x-associated tremor/ataxia syndrome 9.8
147 hereditary ataxia 9.8
148 dropped head syndrome 9.8
149 ptosis 9.8
150 low grade glioma 9.8
151 central precocious puberty 9.8
152 microcephaly 9.8
153 respiratory failure 9.8
154 exotropia 9.8
155 limb-girdle muscular dystrophy 9.8
156 pseudobulbar palsy 9.8
157 quadriplegia 9.8
158 dementia 9.8
159 vestibular nystagmus 9.8
160 toxic shock syndrome 9.8
161 obstructive hydrocephalus 9.8
162 benign neonatal seizures 9.8
163 autosomal dominant cerebellar ataxia 9.8
164 benign familial neonatal epilepsy 9.8
165 epilepsy 9.8
166 impotence 9.8
167 cerebral palsy 9.8
168 spinal cord disease 9.8
169 brain edema 9.8
170 sleep disorder 9.8
171 adult acute lymphocytic leukemia 9.8
172 mitochondrial myopathy 9.8
173 measles 9.8
174 vasculitis 9.8
175 bacterial pneumonia 9.8
176 speech disorder 9.8
177 47 xxx syndrome 9.8
178 children's interstitial lung disease 9.8
179 precocious puberty 9.8
180 grn-related frontotemporal lobar degeneration 9.8
181 hypertonia 9.8
182 syncope 9.8
183 traumatic brain injury 9.8
184 cryptogenic late-onset epileptic spasms 9.8
185 rare neurodegenerative disease 9.8
186 multiple system atrophy, cerebellar type 9.8
187 mitochondrial disease 9.8
188 peripheral nervous system disease 9.8 MTOR HTT HSPB1 HDAC6 GFAP CRYAA
189 skin disease 9.8 PLEC MTOR MAPK14 HSPB1 CASP3
190 aortic aneurysm, familial abdominal, 1 9.8
191 episodic ataxia, type 2 9.8
192 autoimmune disease 9.8
193 cleft palate, isolated 9.8
194 coloboma of macula 9.8
195 osteoporosis 9.8
196 retinoblastoma 9.8
197 aplasia of lacrimal and salivary glands 9.8
198 schizophrenia 9.8
199 neural tube defects 9.8
200 enhanced s-cone syndrome 9.8
201 facial clefting, oblique, 1 9.8
202 fryns microphthalmia syndrome 9.8
203 potocki-shaffer syndrome 9.8
204 neural tube defects, folate-sensitive 9.8
205 sickle cell anemia 9.8
206 pulmonary disease, chronic obstructive 9.8
207 parietal foramina 2 9.8
208 bone mineral density quantitative trait locus 8 9.8
209 premature ovarian failure 7 9.8
210 hypotrichosis and recurrent skin vesicles 9.8
211 bone mineral density quantitative trait locus 15 9.8
212 frontonasal dysplasia 2 9.8
213 dengue virus 9.8
214 hyperlipoproteinemia, type iii 9.8
215 helix syndrome 9.8
216 lipoprotein quantitative trait locus 9.8
217 chikungunya 9.8
218 fetal alcohol syndrome 9.8
219 anaplastic large cell lymphoma 9.8
220 secondary progressive multiple sclerosis 9.8
221 thrombosis 9.8
222 mucositis 9.8
223 sialadenitis 9.8
224 microphthalmia 9.8
225 allergic conjunctivitis 9.8
226 dengue disease 9.8
227 gout 9.8
228 thrombocytopenia 9.8
229 squamous cell carcinoma 9.8
230 larynx cancer 9.8
231 laryngeal benign neoplasm 9.8
232 laryngeal squamous cell carcinoma 9.8
233 aortic aneurysm 9.8
234 arthropathy 9.8
235 intracranial thrombosis 9.8
236 syringocystadenoma papilliferum 9.8
237 eye disease 9.8
238 hemolytic anemia 9.8
239 conjunctivitis 9.8
240 gastrointestinal system disease 9.8
241 peritonitis 9.8
242 cleft lip 9.8
243 viral infectious disease 9.8
244 bowel dysfunction 9.8
245 alopecia 9.8
246 sickle cell disease 9.8
247 49, xxxxy syndrome 9.8
248 cytokine deficiency 9.8
249 klebsiella infection 9.8
250 spinal cord injury 9.8
251 cleft lip/palate 9.8
252 facial cleft 9.8
253 fungal keratitis 9.8
254 coloboma of eyelid 9.8
255 muscular atrophy 9.8 SLC1A2 MTOR HTT HSPB3 HSPB1 CASP3
256 congenital nervous system abnormality 9.8 MTOR KCNJ10 HTT GFAP CRYAA CASP3
257 charcot-marie-tooth disease 9.6 PLP1 HTT HSPB3 HSPB2 HSPB1 HDAC6
258 nervous system disease 8.8 VIM SLC1A2 PLP1 MTOR KCNJ10 HTT

Graphical network of the top 20 diseases related to Alexander Disease:



Diseases related to Alexander Disease

Symptoms & Phenotypes for Alexander Disease

Human phenotypes related to Alexander Disease:

58 30 (showing 95, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000256
2 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
3 seizure 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001250
4 spasticity 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
Occasional (29-5%)
HP:0001257
5 agenesis of corpus callosum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001274
6 megalencephaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001355
7 failure to thrive 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001508
8 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002007
9 nausea and vomiting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002017
10 clonus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002169
11 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
12 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
Frequent (79-30%)
HP:0002650
13 abnormal pyramidal sign 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
HP:0007256
14 large face 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100729
15 ptosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000508
16 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0000639
17 diplopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000651
18 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000712
19 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
20 hyperhidrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000975
21 ataxia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Occasional (29-5%)
HP:0001251
22 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Occasional (29-5%)
HP:0001260
23 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
24 tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0001337
25 dysphonia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0001618
26 dysphagia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Occasional (29-5%)
HP:0002015
27 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
28 hypothermia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002045
29 tetraplegia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002445
30 cerebral calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002514
31 hypotension 58 30 Frequent (33%) Frequent (79-30%)
HP:0002615
32 kyphosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002808
33 sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0010535
34 facial palsy 58 30 Frequent (33%) Frequent (79-30%)
HP:0010628
35 recurrent singultus 58 30 Frequent (33%) Frequent (79-30%)
HP:0100247
36 aphasia 30 Frequent (33%) HP:0002381
37 high palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000218
38 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0000238
39 short neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000470
40 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
41 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
42 hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000822
43 precocious puberty 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000826
44 osteopenia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000938
45 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
Very rare (<4-1%)
HP:0001252
46 sudden cardiac death 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001645
47 chorea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002072
48 respiratory insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002093
49 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
50 aqueductal stenosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002410
51 bowel incontinence 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002607
52 hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003307
53 hyperpigmented nevi 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007481
54 self-injurious behavior 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100716
55 abnormal autonomic nervous system physiology 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0012332
56 infectious encephalitis 30 Occasional (7.5%) HP:0002383
57 babinski sign 58 30 Very rare (1%) Frequent (79-30%)
HP:0003487
58 fatigue 30 Very rare (1%) HP:0012378
59 dysmetria 30 Very rare (1%) HP:0001310
60 apathy 30 Very rare (1%) HP:0000741
61 drowsiness 30 Very rare (1%) HP:0002329
62 pendular nystagmus 30 Very rare (1%) HP:0012043
63 microcoria 30 Very rare (1%) HP:0025492
64 palatal tremor 30 Very rare (1%) HP:0010530
65 abnormal dentate nucleus morphology 30 Very rare (1%) HP:0100321
66 progressive macrocephaly 58 30 Frequent (79-30%)
HP:0004481
67 hyperreflexia 58 Very frequent (99-80%)
Frequent (79-30%)
Occasional (29-5%)
68 neurological speech impairment 58 Very frequent (99-80%)
69 sleep disturbance 58 Very frequent (99-80%)
Occasional (29-5%)
70 abnormality of eye movement 58 Frequent (79-30%)
71 dysphasia 58 Frequent (79-30%)
72 muscle weakness 58 Occasional (29-5%)
73 encephalitis 58 Occasional (29-5%)
74 dysautonomia 58 Occasional (29-5%)
75 global developmental delay 58 Occasional (29-5%)
76 vomiting 58 Very rare (<4-1%)
77 bulbar signs 30 HP:0002483
78 cachexia 58 Occasional (29-5%)
79 cerebellar atrophy 58 Frequent (79-30%)
80 rigidity 58 Occasional (29-5%)
81 limb muscle weakness 58 Frequent (79-30%)
82 spastic paraparesis 58 Frequent (79-30%)
83 abnormal cerebral white matter morphology 58 Very frequent (99-80%)
84 generalized hypotonia 58 Very rare (<4-1%)
85 abnormal thalamic mri signal intensity 58 Frequent (79-30%)
86 urinary bladder sphincter dysfunction 58 Frequent (79-30%)
87 cervical spinal cord atrophy 58 Very frequent (99-80%)
88 increased csf protein 30 HP:0002922
89 abnormal periventricular white matter morphology 58 Frequent (79-30%)
90 focal t2 hyperintense basal ganglia lesion 58 Very frequent (99-80%)
91 diffuse demyelination of the cerebral white matter 30 HP:0007162
92 abnormality of the medulla oblongata 58 Very frequent (99-80%)
93 periventricular cysts 58 Frequent (79-30%)
94 palatal myoclonus 58 Frequent (79-30%)
Very rare (<4-1%)
95 rosenthal fibers 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spasticity
hydrocephalus
seizures
psychomotor regression
diffuse demyelination (increased signal intensity in t2-weighted images, especially frontal lobes)
more
Laboratory Abnormalities:
presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes
presence of glial fibrillary acidic proteins (gfap) in astrocytes
elevated csf protein

Head And Neck Head:
progressive macrocephaly

Clinical features from OMIM®:

203450 (Updated 08-Dec-2022)

UMLS symptoms related to Alexander Disease:


seizures; muscle spasticity

GenomeRNAi Phenotypes related to Alexander Disease according to GeneCards Suite gene sharing:

25 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 BLZF1 CASP3 CRYAA CRYAB GFAP HDAC6
2 no effect GR00402-S-2 10.15 BLZF1 CASP3 CRYAB HSPB1 HSPB3 HTT

MGI Mouse Phenotypes related to Alexander Disease:

45 (showing 7, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 CASP3 CRYAB GFAP HDAC6 HSPB1 HSPB3
2 nervous system MP:0003631 10.11 CASP3 GFAP HDAC6 HTT KCNJ10 MAPK14
3 normal MP:0002873 10.1 GFAP HDAC6 HSPB1 HTT MAPK14 MTOR
4 muscle MP:0005369 10.02 CASP3 CRYAB GFAP HTT MAPK14 MTOR
5 growth/size/body region MP:0005378 9.97 CASP3 GFAP HDAC6 HSPB1 HSPB2 HTT
6 cellular MP:0005384 9.83 CASP3 CRYAA CRYAB GFAP HDAC6 HSPB1
7 behavior/neurological MP:0005386 9.5 CASP3 CRYAB GFAP HDAC6 HSPB2 HTT

Drugs & Therapeutics for Alexander Disease

Drugs for Alexander Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metronidazole Approved 443-48-1, 69198-10-3 4173

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 A Phase 1-3, Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION373 in Patients With Alexander Disease Recruiting NCT04849741 Phase 3 ION373;Placebo
2 Evaluation of Outcome Metrics in Alexander Disease Recruiting NCT02714764
3 The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network Recruiting NCT03047369

Search NIH Clinical Center for Alexander Disease

Cochrane evidence based reviews: alexander disease

Genetic Tests for Alexander Disease

Genetic tests related to Alexander Disease:

# Genetic test Affiliating Genes
1 Alexander Disease 28 GFAP

Anatomical Context for Alexander Disease

Organs/tissues related to Alexander Disease:

MalaCards : Spinal Cord, Brain, Eye, Medulla Oblongata, Bone Marrow, Cortex, Cerebellum

Publications for Alexander Disease

Articles related to Alexander Disease:

(showing 572, show less)
# Title Authors PMID Year
1
The Alexander disease-causing glial fibrillary acidic protein mutant, R416W, accumulates into Rosenthal fibers by a pathway that involves filament aggregation and the association of alpha B-crystallin and HSP27. 53 62 24 57 5
16826512 2006
2
Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. 53 62 24 57 5
12975300 2003
3
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. 53 62 24 57 5
12447932 2002
4
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease. 62 24 57 5
15732097 2005
5
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. 53 62 57 5
17894839 2007
6
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. 53 62 57 5
11567214 2001
7
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. 53 62 57 5
11138011 2001
8
Propensity for paternal inheritance of de novo mutations in Alexander disease. 53 62 24 57
16365765 2006
9
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. 53 62 24 57
16505300 2006
10
Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP. 53 62 24 5
15840648 2005
11
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. 62 57 5
14557587 2003
12
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. 62 57 5
12034796 2002
13
c.1289G>A (p.Arg430His) variant in the epsilon isoform of the GFAP gene in a patient with adult onset Alexander disease. 62 24 57
30048824 2019
14
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. 62 24 57
23634874 2013
15
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. 62 24 5
22488673 2012
16
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. 62 24 5
21533827 2011
17
GFAP mutations, age at onset, and clinical subtypes in Alexander disease. 62 24 5
21917775 2011
18
A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse. 62 24 5
20562394 2010
19
Unusual variants of Alexander's disease. 62 24 57
15732098 2005
20
Alexander disease: diagnosis with MR imaging. 62 24 57
11237983 2001
21
An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. 53 62 5
19444543 2009
22
Can MR imaging diagnose adult-onset Alexander disease? 53 62 5
18388212 2008
23
Adult-onset Alexander disease : report on a family. 53 62 5
18004641 2008
24
The functional alteration of mutant GFAP depends on the location of the domain: morphological and functional studies using astrocytoma-derived cells. 53 62 5
17318298 2007
25
Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. 53 62 5
17065456 2006
26
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? 53 62 5
12944715 2003
27
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis. 53 62 5
11587071 2001
28
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients. 62 57
34865968 2021
29
Relative stabilities of wild-type and mutant glial fibrillary acidic protein in patients with Alexander disease. 62 5
31484723 2019
30
Mutations in GFAP Disrupt the Distribution and Function of Organelles in Human Astrocytes. 62 5
30355500 2018
31
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. 62 5
26486469 2016
32
CSF and Blood Levels of GFAP in Alexander Disease 62 5
26478912 2015
33
Neuroimaging and clinical features in type II (late-onset) Alexander disease. 62 5
24306001 2014
34
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease. 62 5
23903069 2013
35
Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran. 62 5
24427505 2013
36
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. 62 5
23364391 2013
37
GFAP expression as an indicator of disease severity in mouse models of Alexander disease. 62 5
23432455 2013
38
Cerebellar ataxia as the first manifestation of Alexander's disease. 62 5
22510744 2012
39
Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex. 62 5
21822933 2012
40
Glial fibrillary acidic protein mutations in adult-onset Alexander disease: clinical features observed in 12 Japanese patients. 62 5
20849398 2011
41
Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. 62 5
20448479 2010
42
[Adult onset Alexander disease with a novel variant (S398F) in the glial fibrillary acidic protein gene]. 62 5
19618846 2009
43
Suppression of GFAP toxicity by alphaB-crystallin in mouse models of Alexander disease. 62 57
19129171 2009
44
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. 62 5
18684770 2008
45
Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. 53 62 24
18054694 2008
46
A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis. 62 5
17383133 2007
47
Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. 62 57
17438228 2007
48
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. 62 5
17043438 2006
49
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease. 62 5
16168595 2006
50
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. 53 62 24
15390001 2004
51
Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP. 53 62 24
15465095 2004
52
Alexander disease: GFAP mutations unify young and old. 53 62 24
12849260 2003
53
Alexander Disease 62 5
20301351 2002
54
GFAP mutations in Alexander disease. 53 62 24
12175861 2002
55
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. 62 57
12034785 2002
56
Autosomal dominant palatal myoclonus and spinal cord atrophy. 53 62 24
11867077 2002
57
Alexander disease: new insights from genetics. 53 62 24
11398833 2001
58
Hereditary adult-onset Alexander's disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. 62 57
8848205 1995
59
Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. 62 57
2539261 1989
60
Light and electron microscopic observations on Rosenthal fibers in Alexander's disease and in multiple sclerosis. 62 57
5471920 1970
61
Dysmyelinogenic leukodystrophy; report of a case of a new, presumably familial type of leukodystrophy with megalobarencephaly. 62 57
13665382 1959
62
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. 62 24
32126152 2020
63
Characteristics of cerebral lesions in adult-onset Alexander disease. 62 24
31422506 2020
64
Crystal structure of the human glial fibrillary acidic protein 1B domain. 62 24
30126635 2018
65
Alexander disease: an astrocytopathy that produces a leukodystrophy. 62 24
29740945 2018
66
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease. 62 24
29253910 2018
67
Alexander disease. 62 24
29478608 2018
68
Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease. 62 24
29226998 2018
69
Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature. 62 24
23925719 2013
70
Acute onset of adult Alexander disease. 62 24
23706596 2013
71
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement. 62 24
23743246 2013
72
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy. 62 24
22198646 2012
73
Archetypal and new families with Alexander disease and novel mutations in GFAP. 62 24
21987397 2012
74
Alexander disease and megalencephalic leukoencephalopathy with subcortical cysts: leukodystrophies arising from astrocyte dysfunction. 62 24
16807904 2006
75
GFAP: functional implications gleaned from studies of genetically engineered mice. 62 24
12761871 2003
76
Alexander disease. 62 24
14623218 2003
77
Alexander disease--classification revisited and isolation of a neonatal form. 62 24
10832583 2000
78
Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. 62 24
10037578 1999
79
A familial disorder associated with palatal myoclonus, other brainstem signs, tetraparesis, ataxia and Rosenthal fibre formation. 57
8410038 1993
80
Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. 57
15409268 1949
81
The cysteine residue of glial fibrillary acidic protein is a critical target for lipoxidation and required for efficient network organization. 24
29635011 2018
82
Clinical and genetic characterization of leukoencephalopathies in adults. 24
28334938 2017
83
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
84
Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. 24
25378668 2014
85
Oligomers of mutant glial fibrillary acidic protein (GFAP) Inhibit the proteasome system in alexander disease astrocytes, and the small heat shock protein alphaB-crystallin reverses the inhibition. 53 62
20110364 2010
86
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. 53 62
20359319 2010
87
Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl. 53 62
19418047 2009
88
Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia. 53 62
19412928 2009
89
Dual transgenic reporter mice as a tool for monitoring expression of glial fibrillary acidic protein. 53 62
19457099 2009
90
The process of inducing GFAP aggregates in astrocytoma-derived cells is different between R239C and R416W mutant GFAP. A time-lapse recording study. 53 62
19379794 2009
91
Properties of astrocytes cultured from GFAP over-expressing and GFAP mutant mice. 53 62
19146851 2009
92
GFAP aggregates in the cochlear nerve increase the noise vulnerability of sensory cells in the organ of Corti in the murine model of Alexander disease. 53 62
18602179 2008
93
Adaptive autophagy in Alexander disease-affected astrocytes. 53 62
18414043 2008
94
Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways. 53 62
18276609 2008
95
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. 53 62
18197187 2008
96
Clinical and genetic study in Chinese patients with Alexander disease. 53 62
18079314 2008
97
Adult-onset Alexander disease with progressive ataxia and palatal tremor. 53 62
17960815 2008
98
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. 53 62
17805552 2007
99
Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. 53 62
17956445 2007
100
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. 53 62
17934883 2007
101
A novel mutation in the GFAP gene in a familial adult onset Alexander disease. 53 62
17703343 2007
102
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease. 53 62
17604020 2007
103
[Generation of mice with glial cell dysfunction]. 53 62
17663146 2007
104
GFAP and its role in Alexander disease. 53 62
17498694 2007
105
Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. 53 62
17985264 2007
106
[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene]. 53 62
17629821 2007
107
Murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance. 53 62
17299771 2007
108
Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease. 53 62
17038307 2006
109
TRH therapy in a patient with juvenile Alexander disease. 53 62
16774812 2006
110
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. 53 62
16168593 2006
111
Plectin regulates the organization of glial fibrillary acidic protein in Alexander disease. 53 62
16507904 2006
112
Mutations in vimentin disrupt the cytoskeleton in fibroblasts and delay execution of apoptosis. 53 62
16373170 2006
113
Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. 53 62
16217707 2005
114
Gene expression analysis in mice with elevated glial fibrillary acidic protein and Rosenthal fibers reveals a stress response followed by glial activation and neuronal dysfunction. 53 62
16014634 2005
115
[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. 53 62
15696488 2005
116
[A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis]. 53 62
15675360 2005
117
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality. 53 62
15477559 2004
118
Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors. 53 62
15090471 2004
119
Alexander disease: a leukodystrophy caused by a mutation in GFAP. 53 62
15139294 2004
120
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. 53 62
15030911 2004
121
A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. 53 62
14550921 2003
122
Structural and functional characterization of the zebrafish gene for glial fibrillary acidic protein, GFAP. 53 62
12801639 2003
123
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. 53 62
12581808 2003
124
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. 53 62
12368989 2002
125
A new splice variant of glial fibrillary acidic protein, GFAP epsilon, interacts with the presenilin proteins. 53 62
12058025 2002
126
Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. 53 62
12696672 2002
127
A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. 53 62
11595337 2001
128
Glial fibrillary acidic protein: GFAP-thirty-one years (1969-2000). 24
11059815 2000
129
Small heat shock proteins, the cytoskeleton, and inclusion body formation. 53 62
10931363 2000
130
Astrocytes cultured from transgenic mice carrying the added human glial fibrillary acidic protein gene contain Rosenthal fibers. 53 62
9698163 1998
131
Alpha B-crystallin is associated with intermediate filaments in astrocytoma cells. 53 62
9482251 1998
132
Adolescent case of Alexander disease: MR imaging and MR spectroscopy. 53 62
9492095 1998
133
Semiquantitative postembedding characterization of intermediate filaments in central nervous system lesions using immunoelectron microscopy. 53 62
9044656 1995
134
Cytokines and growth factors induce HSP27 phosphorylation in human astrocytes. 53 62
7541446 1995
135
Overexpression and abnormal modification of the stress proteins alpha B-crystallin and HSP27 in Alexander disease. 53 62
8256860 1993
136
Alpha B-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers. 53 62
8393618 1993
137
Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. 53 62
1407707 1992
138
Phosphorylation of alpha-crystallin B in Alexander's disease brain. 53 62
1743282 1991
139
Rosenthal fibers contain ubiquitinated alpha B-crystallin. 53 62
1656764 1991
140
Increment of alpha B-crystallin mRNA in the brain of patient with infantile type Alexander's disease. 53 62
1898384 1991
141
Rosenthal fibers share epitopes with alpha B-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. 53 62
1707236 1991
142
Early recognition of patients with leukodystrophies. 62
36470810 2022
143
Correction to: Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease. 62
35512390 2022
144
Pathologic Alexander Disease with Normal GFAP Sequencing: An Autopsy Case Report and Literature Review. 62
36137250 2022
145
Aetiologies of acquired pediatric sixth nerve palsies in a U.K. based population. 62
36373618 2022
146
Coenzyme Q10: Role in Less Common Age-Related Disorders. 62
36421479 2022
147
Identification of a novel de novo pathogenic variant in GFAP in an Iranian family with Alexander disease by whole-exome sequencing. 62
36088400 2022
148
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. 62
35920398 2022
149
Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation. 62
36153801 2022
150
Identification of association fibers using ex vivo diffusion tractography in Alexander disease brains. 62
35983725 2022
151
Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology. 62
36077104 2022
152
Symptomatic care of late-onset Alexander disease presenting with area postrema-like syndrome with prednisolone; a case report. 62
35831840 2022
153
Alexander disease GFAP R239C mutant shows increased susceptibility to lipoxidation and elicits mitochondrial dysfunction and oxidative stress. 62
35933901 2022
154
Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments. 62
35511821 2022
155
A novel in-frame GFAP p.E138_L148del mutation in Type II Alexander disease with atypical phenotypes. 62
35246666 2022
156
Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene. 62
35620133 2022
157
Juvenile Alexander Disease: A Rare Leukodystrophy. 62
35698668 2022
158
Novel Glial Fibrillary Acidic Protein Variant in a Probable Adult-Onset Alexander Disease. 62
35363250 2022
159
Anastasis Drives Senescence and Non-Cell Autonomous Neurodegeneration in the Astrogliopathy Alexander Disease. 62
35105675 2022
160
GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease. 62
35003479 2022
161
Psychiatric Onset Alexander Disease: An Important Challenge in Neuropsychiatric Diagnosis: A Case Report. 62
36425948 2022
162
Isolated Myoclonus of the Vocal Folds in Alexander Disease. 62
34928305 2022
163
Alexander disease: models, mechanisms, and medicine. 62
34826654 2022
164
Sacsin Deletion Induces Aggregation of Glial Intermediate Filaments. 62
35053415 2022
165
Palato-Lingual Tremor in a Child With Juvenile-Onset Alexander Disease. 62
34678550 2022
166
Metabolic Enzyme Alterations and Astrocyte Dysfunction in a Murine Model of Alexander Disease With Severe Reactive Gliosis. 62
34808356 2022
167
Clinical advances of RNA therapeutics for treatment of neurological and neuromuscular diseases. 62
35482908 2022
168
Type II Alexander disease with fragile X mental retardation 1 gene mutation. 62
34800814 2021
169
Activation of a Cryptic Splice Site of GFAP in a Patient With Adult-Onset Alexander Disease. 62
34611548 2021
170
Abnormal Ca2+ Signals in Reactive Astrocytes as a Common Cause of Brain Diseases. 62
35008573 2021
171
Antisense therapy in a rat model of Alexander disease reverses GFAP pathology, white matter deficits, and motor impairment. 62
34788075 2021
172
Teaching NeuroImage: Dorsal Medullary Lesions in Juvenile-Onset Alexander Disease. 62
34158385 2021
173
Clinical and radiological characteristics of older-adult-onset Alexander disease. 62
34245630 2021
174
Visualizing the phenotype diversity: a case study of Alexander disease. 62
34638175 2021
175
Potential of Multiscale Astrocyte Imaging for Revealing Mechanisms Underlying Neurodevelopmental Disorders. 62
34638653 2021
176
Area Postrema Syndrome as the Initial Presentation of Alexander Disease. 62
34233935 2021
177
A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease. 62
34109421 2021
178
GFAP variants leading to infantile Alexander disease: Phenotype and genotype analysis of 135 cases and report of a de novo variant. 62
34146839 2021
179
Does genetic anticipation occur in familial Alexander disease? 62
34046764 2021
180
Elevated GFAP isoform expression promotes protein aggregation and compromises astrocyte function. 62
33908669 2021
181
A Case Report of Adult-Onset Alexander Disease with a Tumor-Like Lesion in the Lateral Ventricle. 62
34248569 2021
182
Pearls & Oy-sters: Adult-Onset Alexander Disease With Transient Swelling of the Medulla Oblongata. 62
34039724 2021
183
Adult-onset Alexander disease mimicking multiple system atrophy predominant cerebellar ataxia. 62
33863523 2021
184
Pexidartinib treatment in Alexander disease model mice reduces macrophage numbers and increases glial fibrillary acidic protein levels, yet has minimal impact on other disease phenotypes. 62
33685480 2021
185
Teaching NeuroImages: Neuroimaging in Adult-Onset Alexander Disease. 62
32917798 2021
186
Ketogenic Diet Therapy for Intractable Epilepsy in Infantile Alexander Disease: A Small Case Series and Analyses of Astroglial Chemokines and Proinflammatory Cytokines. 62
33395615 2021
187
[Alexander disease: diversity of cell population and interactions between neuron and glia]. 62
34193704 2021
188
A case of adult onset of Alexander disease with nocturnal painless burns, autonomic dysfunction, and peripheral nerve impairment. 62
33160717 2021
189
Alexander Disease. 62
34723085 2021
190
Neuropsychological Functioning in Alexander Disease: A Case Series. 62
34692893 2021
191
Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander's Disease. 62
34950024 2021
192
Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation. 62
34950187 2021
193
Late-Onset Leukodystrophy Mimicking Hereditary Spastic Paraplegia without Diffuse Leukodystrophy on Neuroimaging. 62
34012265 2021
194
Principles of Astrogliopathology. 62
34888830 2021
195
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening. 62
33322348 2020
196
Long-term survival of a dog with Alexander disease. 62
33055453 2020
197
Blended phenotype of adult-onset Alexander disease and spinocerebellar ataxia type 6. 62
33134518 2020
198
Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms. 62
32144715 2020
199
[A case of Alexander disease presented with dystonia of lower limb and decreased dopaminergic uptake in dopamine transporter scintigraphy]. 62
32893243 2020
200
Clinical characteristics of Alexander disease. 62
32847470 2020
201
[Clinical characteristics and diagnostic criteria on Alexander disease]. 62
32779598 2020
202
NG2 and GFAP co-expression after differentiation in cells transfected with mutant GFAP and in undifferentiated glioma cells. 62
29249301 2020
203
Recessively-Inherited Adult-Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene. 62
32374915 2020
204
Epilepsy in children with leukodystrophies. 62
32388833 2020
205
Autopsy Report of a Woman with Infantile Alexander Disease Who Survived 39 Years. 62
32143223 2020
206
Novel GFAP p. Glu206Ala Mutation in Alexander Disease with Decreased Dopamine Transporter Uptake. 62
32775528 2020
207
Parkinsonism phenotype in a family with adult onset Alexander disease and a novel mutation of GFAP. 62
32417628 2020
208
Effects of curcumin on neurological diseases: focus on astrocytes. 62
32458309 2020
209
All in Your Mind? New-Onset Dysphagia in a Previously Healthy Adolescent Child. 62
32351769 2020
210
What Can Mimic Multiple Sclerosis? 62
32448485 2020
211
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions. 62
31542992 2020
212
Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature. 62
32223977 2020
213
Neuroprotective effects of curcumin through autophagy modulation. 62
31804772 2020
214
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling]. 62
31956193 2020
215
Autophagy in Myelinating Glia. 62
31744863 2020
216
Inflammatory neuropathology of infantile Alexander disease: A case report. 62
31455510 2020
217
Oculopalatal tremor following sequential medullary infarcts that did not cause hypertrophic olivary degeneration. 62
32082592 2020
218
Teaching Video NeuroImages: Palatal myoclonus in leukodystrophies: A clinical sign orienting to Alexander disease. 62
31932408 2020
219
[Alexander disease as an explanation for long-term unexplained psychiatric symptoms in a young girl]. 62
32910452 2020
220
Astrocyte-Oligodendrocyte-Microglia Crosstalk in Astrocytopathies. 62
33328899 2020
221
A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility? 62
31952467 2020
222
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 62
31829048 2020
223
Infantile Alexander Disease with Late Onset Infantile Spasms and Hypsarrhythmia. 62
31942421 2019
224
A novel mutation in the GFAP gene expands the phenotype of Alexander disease. 62
31004048 2019
225
Refining the concept of GFAP toxicity in Alexander disease. 62
31838996 2019
226
Site-specific phosphorylation and caspase cleavage of GFAP are new markers of Alexander disease severity. 62
31682229 2019
227
Towards genomic database of Alexander disease to identify variations modifying disease phenotype. 62
31611638 2019
228
Botox Injection for Laryngeal Dysfunction in Alexander Disease. 62
30017431 2019
229
Tadpole Brain Atrophy in Adult-Onset Alexander Disease. 62
31744992 2019
230
Adult-onset Alexander disease with a heterozygous D128N GFAP mutation: a pathological study. 62
30942895 2019
231
Degenerative inferior olivary nucleus and medullary tegmentum produced the characteristic magnetic resonance imaging signs in Alexander disease: A case report. 62
31299543 2019
232
Glial fibrillary acidic protein expression alters astrocytic chemokine release and protects mice from cuprizone-induced demyelination. 62
30801815 2019
233
Neuropsychological features of adult form of Alexander disease. 62
31039531 2019
234
A Case of Juvenile Alexander Disease Presenting as Microcephaly. 62
30628038 2019
235
Aggregate formation analysis of GFAPR416W found in one case of Alexander disease. 62
30213442 2019
236
AP-1 and the injury response of the GFAP gene. 62
30345544 2019
237
General Pathophysiology of Astroglia. 62
31583588 2019
238
A Novel Mutation in the Adult-Onset Alexander's Disease GFAP Gene. 62
30755773 2019
239
Mitochondria Are Dynamically Transferring Between Human Neural Cells and Alexander Disease-Associated GFAP Mutations Impair the Astrocytic Transfer. 62
31327963 2019
240
Astroglia in Leukodystrophies. 62
31583590 2019
241
A Novel Mutation of GFAP Causing Adult-Onset Alexander Disease. 62
31781017 2019
242
An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease. 62
29339051 2018
243
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease. 62
30355306 2018
244
Myelin changes in Alexander disease. 62
28342553 2018
245
An unusual presentation of late-onset Alexander's disease with slow orthostatic tremor and a novel GFAP variant. 62
30755139 2018
246
Small heat shock protein speciation: novel non-canonical 44 kDa HspB5-related protein species in rat and human tissues. 62
29542021 2018
247
Reduced cerebrospinal fluid monoamines in Alexander's disease: a clue to a symptomatic therapy. 62
30134051 2018
248
A case of severe Alexander disease with de novo c. 239 T > C, p.(F80S), in GFAP. 62
29573842 2018
249
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. 62
30046660 2018
250
GFAP Mutations in Astrocytes Impair Oligodendrocyte Progenitor Proliferation and Myelination in an hiPSC Model of Alexander Disease. 62
30075130 2018
251
Neonatal Alexander Disease: Novel GFAP Mutation and Comparison to Previously Published Cases. 62
29801191 2018
252
Teaching NeuroImages: Alexander disease with features of both frontal and bulbospinal involvement. 62
30037922 2018
253
Aberrant astrocyte Ca2+ signals "AxCa signals" exacerbate pathological alterations in an Alexander disease model. 62
29383757 2018
254
Tissue and cellular rigidity and mechanosensitive signaling activation in Alexander disease. 62
29765022 2018
255
Astrocytes, an active player in Aicardi-Goutières syndrome. 62
29740948 2018
256
The small heat shock proteins, especially HspB4 and HspB5 are promising protectants in neurodegenerative diseases. 62
29425965 2018
257
Neuroimaging in Juvenile Alexander Disease: Tumour-like Brainstem Lesions. 62
29911736 2018
258
Histopathological proof of the pathogenicity of a rare GFAP mutation in a patient with flaccid paraparesis. 62
29191363 2018
259
Alexander's disease and the story of Louise. 62
27580295 2018
260
[A case of Alexander disease with dropped head syndrome]. 62
29491332 2018
261
Ataxia and autonomic dysfunction as presenting symptoms in late-onset Alexander disease. 62
29431177 2017
262
Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor. 62
29095329 2017
263
A Novel GFAP Mutation in Late-Onset Alexander Disease Showing Diffusion Restriction. 62
29057636 2017
264
Neurobehavioral characterization of adult-onset Alexander disease: A family study. 62
29620072 2017
265
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model. 62
28882119 2017
266
Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom. 62
28681773 2017
267
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease. 62
28459923 2017
268
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease-Reply. 62
28459933 2017
269
[Follow-up and genetic study of 43 Chinese children with type Ⅰ Alexander disease]. 62
28728258 2017
270
Infantile Alexander Disease: Case Report and Review of Literature. 62
28764307 2017
271
Central hypothermia associated with Alexander disease. A case report. 62
28384596 2017
272
Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease. 62
28223355 2017
273
Respiratory difficulty with palatal, laryngeal and respiratory muscle tremor in adult-onset Alexander's disease. 62
28438749 2017
274
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. 62
28359321 2017
275
Alexander Disease. 62
28112050 2017
276
Hypertrophic Olivary Degeneration and Palatal or Oculopalatal Tremor. 62
28706504 2017
277
Characterization of a panel of monoclonal antibodies recognizing specific epitopes on GFAP. 62
28700643 2017
278
Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes. 62
28634469 2017
279
Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report. 62
28286850 2017
280
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease. 62
28448978 2017
281
Astrocyte-mediated infantile-onset leukoencephalopathy mouse model. 62
27748972 2017
282
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease. 62
28690862 2017
283
Disorders of Astrocytes: Alexander Disease as a Model. 62
28135564 2017
284
The role of gigaxonin in the degradation of the glial-specific intermediate filament protein GFAP. 62
27798231 2016
285
Atypical MRI features in familial adult onset Alexander disease: case report. 62
27814755 2016
286
MRI diagnosis of infantile Alexander disease in a 14 month old African boy. 62
28580052 2016
287
Interactions of GFAP with ceftriaxone and phenytoin: SRCD and molecular docking and dynamic simulation. 62
27133445 2016
288
Isolated macrocerebellum: description of six cases and literature review. 62
27942468 2016
289
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies. 62
27779215 2016
290
Translational potential of astrocytes in brain disorders. 62
26386136 2016
291
Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. 62
27638001 2016
292
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. 62
27648269 2016
293
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. 62
27402089 2016
294
Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease. 62
27193225 2016
295
Small-Molecule-Based Lineage Reprogramming Creates Functional Astrocytes. 62
27396343 2016
296
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. 62
26743065 2016
297
Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases. 62
28360791 2016
298
Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease. 62
27298457 2016
299
Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. 62
26719496 2016
300
Mapping of protein-protein interaction network of Alexander disease. 62
27262796 2016
301
[An atypical presentation of Infantile Alexander disease lacking macrocephaly]. 62
29421207 2016
302
Familial Adult-Onset Alexander Disease with a Novel GFAP Mutation. 62
30363563 2016
303
Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. 62
27442695 2016
304
A novel GFAP mutation in a type II (late-onset) Alexander disease patient. 62
26914930 2016
305
Astrocytes: a central element in neurological diseases. 62
26671410 2016
306
An In Vivo Pharmacological Screen Identifies Cholinergic Signaling as a Therapeutic Target in Glial-Based Nervous System Disease. 62
26843629 2016
307
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene. 62
26396075 2016
308
Astrogliopathology in neurological, neurodevelopmental and psychiatric disorders. 62
25843667 2016
309
Astrocyte Differentiation of Human Pluripotent Stem Cells: New Tools for Neurological Disorder Research. 62
27725795 2016
310
INFANTILE ALEXANDER'S DISEASE: A CASE WITH CHARACTERISTIC MRI FEATURES. 62
27323590 2016
311
Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report. 62
28035283 2016
312
[An infant form of Alexander disease (a clinical case and literature review)]. 62
28139579 2016
313
Elevated GFAP induces astrocyte dysfunction in caudal brain regions: A potential mechanism for hindbrain involved symptoms in type II Alexander disease. 62
26190408 2015
314
Nitric oxide mediates glial-induced neurodegeneration in Alexander disease. 62
26608817 2015
315
Astrocyte pathology in Alexander disease causes a marked inflammatory environment. 62
26296699 2015
316
Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease. 62
26285664 2015
317
Adult-onset Alexander's disease mimicking degenerative disease. 62
26023202 2015
318
Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene. 62
25997626 2015
319
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. 62
26208460 2015
320
Lack of CUL4B leads to increased abundance of GFAP-positive cells that is mediated by PTGDS in mouse brain. 62
26025376 2015
321
Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation. 62
25982497 2015
322
An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene. 62
25828773 2015
323
Characteristic abnormal signals in medulla oblongata-"eye spot" sign: Four cases of elderly-onset Alexander disease. 62
29443213 2015
324
Glial fibrillary acidic protein: from intermediate filament assembly and gliosis to neurobiomarker. 62
25975510 2015
325
Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. 62
25985984 2015
326
Intracellular fibril formation, calcification, and enrichment of chaperones, cytoskeletal, and intermediate filament proteins in the adult hippocampus CA1 following neonatal exposure to the nonprotein amino acid BMAA. 62
24798087 2015
327
[Glial fibrillary acidic protein: the component of intermediate filaments in the vertebrate brain astrocytes]. 62
25859599 2015
328
Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease. 62
24755947 2015
329
A new mutation in GFAP widens the spectrum of Alexander disease. 62
24961628 2015
330
Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease. 62
26378915 2015
331
Adult-onset Alexander disease: could facial myokymia be a symptom? 62
25410460 2014
332
Infantile onset alexander disease with normal head circumference: a genetically proven case report. 62
25584279 2014
333
Teaching neuroImages: late-onset Alexander disease. 62
25422405 2014
334
Histone acetylation in astrocytes suppresses GFAP and stimulates a reorganization of the intermediate filament network. 62
25128567 2014
335
Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease. 62
25069089 2014
336
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. 62
24742911 2014
337
Cyclic mood disorder heralding adult-onset autosomal dominant leucodystrophy: a clinical masquerader. 62
24813031 2014
338
Astrocytic TDP-43 pathology in Alexander disease. 62
24806671 2014
339
Adult onset Alexander disease presenting with progressive spastic paraplegia. 62
24188966 2014
340
Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease. 62
23594359 2014
341
Ceftriaxone blocks the polymerization of α-synuclein and exerts neuroprotective effects in vitro. 62
24099687 2014
342
Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases. 62
24165736 2014
343
Caspase cleavage of GFAP produces an assembly-compromised proteolytic fragment that promotes filament aggregation. 62
24102621 2013
344
Deficits in adult neurogenesis, contextual fear conditioning, and spatial learning in a Gfap mutant mouse model of Alexander disease. 62
24259590 2013
345
A conserved rod domain phosphotyrosine that is targeted by the phosphatase PTP1B promotes keratin 8 protein insolubility and filament organization. 62
24003221 2013
346
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. 62
24045243 2013
347
Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report. 62
23890466 2013
348
A young child with seizures and mild developmental delay. Diagnosis: Alexander disease. 62
23718245 2013
349
ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS. 62
24340223 2013
350
Magnetic resonance imaging "tigroid pattern" in Alexander disease. 62
23254569 2013
351
Alexander disease with mild dorsal brainstem atrophy and infantile spasms. 62
22818990 2013
352
One size does not fit all: the oligomeric states of αB crystallin. 62
23340341 2013
353
Phenotypic conversions of "protoplasmic" to "reactive" astrocytes in Alexander disease. 62
23616550 2013
354
Alexander disease. 62
23149175 2013
355
Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. 62
22566711 2013
356
Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. 62
23272901 2013
357
MRS findings in a patient with juvenile-onset Alexander's leukodystrophy. 62
23550391 2013
358
Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up. 62
23430549 2013
359
Leukodystrophies with astrocytic dysfunction. 62
23622383 2013
360
[A case of Alexander disease suspected juvenile-onset and exacerbating after long stationary state]. 62
23782827 2013
361
[A case of progressive ataxia and palatal tremor (PAPT) with ear clicks]. 62
23524603 2013
362
Recognizable phenotypes associated with intracranial calcification. 62
23121296 2013
363
Alexander's disease: reassessment of a neonatal form. 62
22890470 2012
364
Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep. 62
22619055 2012
365
Beneficial effects of αB-crystallin in spinal cord contusion injury. 62
23077034 2012
366
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease. 62
22705585 2012
367
A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging. 62
23185175 2012
368
Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation. 62
22118268 2012
369
Beneficial effects of Nrf2 overexpression in a mouse model of Alexander disease. 62
22855800 2012
370
Infantile Alexander disease: A rare leukodystrophy. 62
23248690 2012
371
[Clinical and genetic study of twelve Chinese patients with Alexander disease]. 62
22883041 2012
372
Error in Figure in: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP. 62
23753750 2012
373
Juvenile alexander disease: a case report. 62
25610205 2012
374
c-Jun N-terminal kinase controls a negative loop in the regulation of glial fibrillary acidic protein expression by retinoic acid. 62
22387108 2012
375
An unusual presentation of juvenile Alexander disease. 62
21940697 2012
376
Alexander disease. 62
22496548 2012
377
A Rosenthal fiber encephalomyelopathy resembling Alexander's disease in 3 sheep. 62
21233330 2012
378
Leukoencephalopathies associated with macrocephaly. 62
22422204 2012
379
[Adult-onset hereditary leukoencephalopathy: classification and molecular basis of the disorder]. 62
23196628 2012
380
Clinical and radiological characteristics in multiple sclerosis patients with large cavitary lesions. 62
22907640 2012
381
Leukodystrophies. 62
22411242 2012
382
Genetic ablation of Nrf2/antioxidant response pathway in Alexander disease mice reduces hippocampal gliosis but does not impact survival. 62
22693571 2012
383
Focal central white matter lesions in Alexander disease. 62
21572052 2011
384
Neurocognitive decline in Alexander disease. 62
21902566 2011
385
Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability. 62
21756903 2011
386
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. 62
21041050 2011
387
The ocular motor features of adult-onset alexander disease: a case and review of the literature. 62
21403579 2011
388
Late onset Alexander's disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. 62
21165639 2011
389
MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. 62
21132324 2011
390
A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene. 62
21487377 2011
391
Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease. 62
21270471 2011
392
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. 62
21414908 2011
393
[Intermediate-filament-associated diseases]. 62
21982403 2011
394
Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. 62
20964669 2010
395
Periventricular calcification added to the phenotypic repertoire of Alexander disease. 62
21175465 2010
396
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. 62
21107140 2010
397
The clinical spectrum of late-onset Alexander disease: a systematic literature review. 62
20721574 2010
398
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities. 62
20946255 2010
399
Fibrinoid leukodystrophy (Alexander's disease-like disorder) in a young adult French bulldog. 62
20526046 2010
400
Strategies for treatment in Alexander disease. 62
20880512 2010
401
[Metabolic disorders with typical alterations in MRI]. 62
20924741 2010
402
Recent advances in (patho)physiology of astroglia. 62
20694024 2010
403
In vitro treatments with ceftriaxone promote elimination of mutant glial fibrillary acidic protein and transcription down-regulation. 62
20471977 2010
404
Drug screening to identify suppressors of GFAP expression. 62
20538881 2010
405
Alteration of glial-neuronal metabolic interactions in a mouse model of Alexander disease. 62
20544858 2010
406
Clinical, radiological and genetic aspects of leukodystrophies. 62
20812455 2010
407
Sleep apnea associated with floppy epiglottis in adult-onset Alexander disease: a case report. 62
20535827 2010
408
Axonal damage in leukodystrophies. 62
20304325 2010
409
Alexander disease: an important mimicker of focal brainstem glioma. 62
19927292 2010
410
Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response. 62
21552504 2010
411
Ceftriaxone has a therapeutic role in Alexander disease. 62
19948199 2010
412
Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease. 62
20139839 2009
413
Alexander disease: An important mimicker of focal brainstem glioma. 62
19672978 2009
414
Alexander disease: early presence of cerebral MRI criteria. 62
19128991 2009
415
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. 62
19484233 2009
416
Alpha A-crystallin and alpha B-crystallin, newly identified interaction proteins of protease-activated receptor-2, rescue astrocytes from C2-ceramide- and staurosporine-induced cell death. 62
19558454 2009
417
Cortical dysplasia with prominent Rosenthal fiber formation in a case of intractable pediatric epilepsy. 62
19427021 2009
418
Review of Alexander disease: beyond the classical concept of leukodystrophy. 62
19386454 2009
419
Magnetic resonance findings in leucodystrophies and MS. 62
19671368 2009
420
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. 62
18584981 2009
421
A rare cause of neuromuscular scoliosis: Alexander disease. 62
19084454 2009
422
Neonatal Alexander disease: MR imaging prenatal diagnosis. 62
18653683 2008
423
Glial fibrillary acidic protein filaments can tolerate the incorporation of assembly-compromised GFAP-delta, but with consequences for filament organization and alphaB-crystallin association. 62
18685083 2008
424
Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. 62
18581469 2008
425
Valproate-induced parkinsonism, glial cells and Alexander's disease. 62
18495313 2008
426
Adaptive autophagy in Alexander disease-affected astrocytes. 62
28186854 2008
427
Magnetic resonance imaging findings in Alexander disease. 62
18410858 2008
428
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. 62
18402384 2008
429
Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. 62
18217876 2008
430
Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin. 62
17962466 2007
431
Glial cells more than support cells? 62
17141551 2007
432
Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report. 62
17156703 2006
433
Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. 62
17110673 2006
434
The spectrum of neurodegeneration in children. 62
17052424 2006
435
Rosenthal fiber encephalopathy in a dog resembling Alexander disease in humans. 62
17099166 2006
436
Fluoro-Jade: new fluorescent marker of Rosenthal fibers. 62
16949206 2006
437
Early mitochondrial dysfunction in an infant with Alexander disease. 62
16996408 2006
438
Identification of diffuse and focal brain lesions by clinical magnetic resonance spectroscopy. 62
16763970 2006
439
Neuropathology for the neuroradiologist: Rosenthal fibers. 62
16687524 2006
440
Infantile Alexander's disease. A case report. 62
16835579 2006
441
Alexander disease: not just a leukodystrophy anymore. 62
16505295 2006
442
Adult Alexander's disease without leukoencephalopathy. 62
16240361 2005
443
Alexander's disease presenting as status epilepticus in a child. 62
16333210 2005
444
Unexplained mental retardation: is brain MRI useful? 62
15739114 2005
445
Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype. 62
15732119 2005
446
Astrocyte intermediate filaments in CNS pathologies and regeneration. 62
15495269 2004
447
Alexander disease: past and present. 62
15549177 2004
448
Alexander disease: putative mechanisms of an astrocytic encephalopathy. 62
14770299 2004
449
Early cerebral images of Alexander disease: report of one case. 62
15264709 2004
450
Feasibility study of single region lambda chart analysis for pyramidal tract physiology. 62
14586599 2003
451
Megalencephalic leukoencephalopathy with subcortical cysts. 62
14572144 2003
452
Alexander's disease: clinical, pathologic, and genetic features. 62
14572141 2003
453
Ventriculosagittal sinus shunt placement: technical case report. 62
12943596 2003
454
The clinicopathological spectrum of Rosenthal fibre encephalopathy and Alexander's disease: a case report and review of the literature. 62
12754360 2003
455
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. 62
12638020 2003
456
Alexander's disease in a neurologically normal child: a case report. 62
12497239 2003
457
Atypical focal MRI lesions in a case of juvenile Alexander's disease. 62
12509855 2003
458
MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease. 62
12427522 2002
459
Infantile Alexander's disease: serial neuroradiologic findings. 62
12174972 2002
460
Scoliosis in a patient with Alexander disease. 62
12131431 2002
461
Alexander disease: a review and the gene. 62
12175878 2002
462
Fluctuation of computed tomographic findings in white matter in Alexander's disease. 62
12026242 2002
463
An update on the leukodsytrophies. 62
11723390 2001
464
Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases. 62
11575606 2001
465
Leukodystrophies: recent developments in genetics, molecular biology, pathogenesis and treatment. 62
11371752 2001
466
Ser-59 is the major phosphorylation site in alphaB-crystallin accumulated in the brains of patients with Alexander's disease. 62
11158243 2001
467
Vacuolating megalencephalic leukoencephalopathy in 12 Israeli patients. 62
11292232 2001
468
Childhood leukodystrophy presenting as secondary bipolar disorder. 62
21407844 2001
469
[Alexander disease]. 62
11462382 2001
470
Alexander disease and intermediate filaments in astrocytes: a fatal gain of function. 62
11587378 2001
471
Acute encephalopathy associated with vigabatrin in a six-month-old girl. 62
10802771 2000
472
[Alexander's disease]. 62
11032014 2000
473
Alexander's disease: a case report of a biopsy proven case. 62
10625914 1999
474
Differential expression of small heat shock proteins in reactive astrocytes after focal ischemia: possible role of beta-adrenergic receptor. 62
10559386 1999
475
Alexander disease: Alzheimer disease of the developing brain? 62
10609673 1999
476
Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease. 62
10435510 1999
477
Positron emission tomography in juvenile Alexander disease. 62
10450795 1999
478
Leukoencephalopathy with a mild clinical course: a case report. 62
10397361 1999
479
Alexander's disease: unique presentation. 62
10342600 1999
480
Is Alexander's disease a nosologic entity or a common pathologic pattern of diverse etiology? 62
10342592 1999
481
Infantile and juvenile presentations of Alexander's disease: a report of two cases. 62
10100959 1999
482
Variability of localization and intensity of damage of the white matter of the brain and cerebellum in genetically conditioned diseases. 62
10705640 1999
483
Role of oxidative stress in frontotemporal dementia. 62
10436348 1999
484
Slowly progressive cystic leukoencephalopathy with megalencephaly in a Japanese boy. 62
9661971 1998
485
Advanced lipid peroxidation end-products in Alexander's disease. 62
9518535 1998
486
Fatal encephalopathy with astrocyte inclusions in GFAP transgenic mice. 62
9466565 1998
487
Advanced glycation modification of Rosenthal fibers in patients with Alexander disease. 62
9291145 1997
488
Allogeneic bone marrow transplantation for Alexander's disease. 62
9257894 1997
489
Hereditary Alexander's disease. 62
9040773 1997
490
Differentiation of dys- and demyelination using diffusional anisotropy. 62
9044406 1997
491
Involvement of the pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenoleukodystrophy. 62
9010525 1997
492
Megencephaly: a new mouse mutation on chromosome 6 that causes hypertrophy of the brain. 62
8995755 1996
493
Alexander disease: a case report and review of the literature. 62
9025838 1996
494
Rosenthal fiber encephalopathy presenting with demyelination and Rosenthal fibers in a solvent abuser: adult Alexander's disease? 62
8998849 1996
495
Alexander's disease in a Bernese mountain dog. 62
8787155 1996
496
Prominent white matter cavitation in an infant with Alexander's disease. 62
8033460 1994
497
Alexander's disease. 62
8224558 1993
498
A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibres. 62
8335162 1993
499
Test and teach. Number seventy-three. Diagnosis: Alexander's disease. 62
8265244 1993
500
Dysmyelinating and demyelinating conditions in infancy. 62
8507907 1993
501
The blood brain barrier in human leukodystrophies and allied diseases. Ultrastructural and morphometric studies on the capillaries in brain biopsies. 62
8324966 1993
502
Alexander's disease: clues to diagnosis. 62
8505475 1993
503
Two possible cases of Alexander disease. Multimodal evoked potentials and MRI. 62
8214336 1993
504
[Alexander's disease in adults and diffuse cerebral gliomatosis in 2 members of the same family]. 62
7997738 1993
505
Morphology of demyelination in the human central nervous system. 62
1430147 1992
506
Progressive parkinsonism associated with Rosenthal fibers: senile-onset Alexander's disease? 62
1325040 1992
507
Increased intracranial pressure in Alexander disease: a rare presentation of white-matter disease. 62
1573234 1992
508
Anaesthetic considerations for the child with leukodystrophy. 62
1563064 1992
509
Biopsy diagnosis of familial Alexander's disease. 62
1457372 1992
510
Alexander's disease in infancy and childhood: a report of two cases. 62
1384269 1992
511
Fibrinoidal leucodystrophy (Alexander's disease) at 13 months girl. A case report. 62
1287550 1992
512
Chromosome 11q23.3-qter deletion and Alexander disease. 62
2063930 1991
513
Alexander's disease: a case report with brain biopsy, ultrasound, CT scan and MRI findings. 62
1650301 1991
514
Alexander's disease: cranial MRI and ultrasound findings. 62
2027717 1991
515
[Alexander's disease]. 62
1652745 1991
516
Computed tomography in Alexander's disease. An atypical case with extensive low density in both frontal lobes. 62
1749476 1991
517
Infantile Alexander disease: MR appearance of a biopsy-proved case. 62
2124037 1990
518
Rosenthal fibers in Alexander's disease. 62
2398242 1990
519
Neuroimaging findings in Alexander's disease. 62
2398241 1990
520
Comparative neuroimaging with pathologic correlates in Alexander's disease. 62
2398240 1990
521
Ultrastructural immunogold labeling of glial filaments in osmicated and unosmicated epoxy-embedded tissue. 62
2152935 1990
522
Cerebral gigantism: report of one case. 62
2278226 1990
523
On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue. 62
2672771 1989
524
Isolation of a major protein component of Rosenthal fibers. 62
3348359 1988
525
Alexander's disease: cranial ultrasound findings. 62
3290822 1988
526
Alexander's disease: cranial ultrasound findings. 62
3285307 1988
527
Asymptomatic adult Alexander's disease: entity or nosological misconception? 62
3336449 1988
528
[A case of leukodystrophy, suspected of Alexander's disease, and its magnetic resonance imaging]. 62
3440358 1987
529
Myeloencephalopathy with eosinophilic refractile bodies (Rosenthal fibers) in a Scottish terrier. 62
3570949 1987
530
Giant axonal neuropathy. A neuropathological study. 62
3604581 1987
531
Myeloencephalopathy resembling Alexander's disease in a Scottish terrier dog. 62
3776469 1986
532
Alexander's disease. A disease of astrocytes. 62
3891011 1985
533
Alexander's disease. 62
4040694 1985
534
Computed tomography in Alexander's disease. 62
6742795 1984
535
Alexander's disease with Rosenthal fibre formation in an adult. 62
6726266 1984
536
[Alexander's disease in an adult]. 62
6729328 1984
537
[Case of megalencephaly with leukodystrophic findings in CT scans--Alexander's disease?]. 62
6712846 1984
538
The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood. 62
6429290 1984
539
[Ultrastructural changes of skin nerve in Alexander's disease]. 62
6676502 1983
540
[Alexander's leukodystrophy]. 62
6664363 1983
541
Noninvasive CT diagnosis of infantile Alexander disease: pathologic correlation. 62
6841718 1983
542
[Astroglial dystrophy with Rosenthal fibers. On the adult form of Alexander disease and its clinical significance]. 62
6843729 1983
543
Megalencephaly with formation of Rosenthal fibers in symmetric subependymal gliomatous proliferations: clinicopathologic report. 62
6839573 1983
544
Alexander's disease: further light-, and electron-microscopic observations. 62
6624384 1983
545
Alexander's disease in an adult: clinicopathologic study of a case and review of the literature. 62
6301723 1982
546
[Alexander's disease (author's transl)]. 62
7090590 1982
547
Bulbar palsy with Rosenthal fiber formation in the medulla of a 15-year-old girl. Localized form of Alexander's disease? 62
6801536 1981
548
Computed tomography in the diagnosis of Canavan's disease. 62
7271233 1981
549
Nickel induction of Rosenthal fibers in rat brain. 62
6971692 1981
550
Alexander disease: clinical, electrodiagnostic and radiographic studies. 62
7254481 1981
551
[Alexander's disease: new diagnostic approach]. 62
7336083 1980
552
Neurophysiological investigations in two cases of Alexander's disease with infantile onset. 62
7341540 1980
553
Alexander's disease. A clinical study with computerized tomographic scans of the first two Italian cases. 62
6771965 1980
554
Diffuse Rosenthal fiber formation in adults. A case report. 62
7415817 1980
555
Computed tomography in Alexander's disease. 62
7422121 1980
556
Alexander's disease: case report including histopathological and electron microscopic features. 62
479901 1979
557
Rosenthal fibers formation in the central nervous system. Its relation to Alexander's disease. 62
463508 1979
558
[Electron microscopic and neurochemical study of Alexander's disease (author's transl)]. 62
419936 1979
559
Brain biopsies for neurodegenerative disease in children. 62
660354 1978
560
Thrombotic thrombocytopenic purpura in a child with Alexander's disease. 62
579308 1977
561
Alexander's disease presenting as astrocytoma. 62
956866 1976
562
Alexander's disease: a report and reappraisal. 62
180453 1976
563
Alexander disease. Case report with electron microscopical studies and review of the literature. 62
4417741 1974
564
Alexander's disease: report of a case presenting as obstructive hydrocephalus. 62
4437700 1974
565
Alexander's disease in an adult (leukodystrophy with Rosenthal fibers). 62
5031908 1972
566
Alexander's disease with sudanophilic leukodystrophy. 62
4190963 1970
567
Alexander's disease in an adult. Report of a case. 62
5684299 1968
568
Alexander's disease. A case report with electron microscopic observations. 62
5691014 1968
569
Leucodystrophy with Rosenthal fibers (Alexander's disease): a histochemical and electron microscopic study. 62
5690398 1968
570
Alexander's disease--really a leucodystrophy? 62
5688466 1968
571
[Case of leukodystrophy with diffuse Rosenthal fiber formation (Alexander's disease)]. 62
6010162 1966
572
ALEXANDER'S DISEASE. 62
14196734 1964

Variations for Alexander Disease

ClinVar genetic disease variations for Alexander Disease:

5 (showing 137, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GFAP NP_002046.1(GFAP):p.Glu373Asp PROTEIN Pathogenic
190359 GRCh37:
GRCh38:
2 GFAP NP_002046.1(GFAP):p.Met415Ile PROTEIN Pathogenic
190364 GRCh37:
GRCh38:
3 GFAP NM_002055.5(GFAP):c.1171+475_1171+482delinsATC INDEL Pathogenic
190366 rs797044592 GRCh37: 17:42987501-42987508
GRCh38: 17:44910133-44910140
4 GFAP NP_002046.1:p.Phe261_Thr302del DEL Pathogenic
190369 GRCh37:
GRCh38:
5 GFAP NM_002055.5(GFAP):c.242C>A (p.Ala81Asp) SNV Pathogenic
637027 rs1597864461 GRCh37: 17:42992613-42992613
GRCh38: 17:44915245-44915245
6 GFAP NM_002055.5(GFAP):c.217A>G (p.Met73Val) SNV Pathogenic
1173085 GRCh37: 17:42992638-42992638
GRCh38: 17:44915270-44915270
7 GFAP NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys) SNV Pathogenic
1199219 GRCh37: 17:42988620-42988620
GRCh38: 17:44911252-44911252
8 GFAP NM_002055.5(GFAP):c.1087A>G (p.Ile363Val) SNV Pathogenic
1685846 GRCh37: 17:42988644-42988644
GRCh38: 17:44911276-44911276
9 GFAP NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) SNV Pathogenic
16167 rs58064122 GRCh37: 17:42990702-42990702
GRCh38: 17:44913334-44913334
10 GFAP NM_002055.5(GFAP):c.716G>A (p.Arg239His) SNV Pathogenic
16168 rs59565950 GRCh37: 17:42990701-42990701
GRCh38: 17:44913333-44913333
11 GFAP NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) SNV Pathogenic
16169 rs121909717 GRCh37: 17:42985443-42985443
GRCh38: 17:44908075-44908075
12 GFAP NM_002055.5(GFAP):c.236G>A (p.Arg79His) SNV Pathogenic
16170 rs59285727 GRCh37: 17:42992619-42992619
GRCh38: 17:44915251-44915251
13 GFAP NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) SNV Pathogenic
16171 rs59793293 GRCh37: 17:42992620-42992620
GRCh38: 17:44915252-44915252
14 GFAP NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) SNV Pathogenic
16172 rs61622935 GRCh37: 17:42992593-42992593
GRCh38: 17:44915225-44915225
15 GFAP NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) SNV Pathogenic
16173 rs61622935 GRCh37: 17:42992593-42992593
GRCh38: 17:44915225-44915225
16 GFAP NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) SNV Pathogenic
16174 rs57120761 GRCh37: 17:42992629-42992629
GRCh38: 17:44915261-44915261
17 GFAP NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr) SNV Pathogenic
16175 rs58732244 GRCh37: 17:42992626-42992626
GRCh38: 17:44915258-44915258
18 GFAP NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp) SNV Pathogenic
16176 rs121909718 GRCh37: 17:42988645-42988645
GRCh38: 17:44911277-44911277
19 GFAP NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) SNV Pathogenic
16177 rs121909719 GRCh37: 17:42989119-42989119
GRCh38: 17:44911751-44911751
20 GFAP NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) SNV Pathogenic
16178 rs28932769 GRCh37: 17:42988676-42988676
GRCh38: 17:44911308-44911308
21 GFAP NM_002055.5(GFAP):c.234C>A (p.Asp78Glu) SNV Pathogenic
16179 rs121909720 GRCh37: 17:42992621-42992621
GRCh38: 17:44915253-44915253
22 GFAP NM_002055.5(GFAP):c.218T>C (p.Met73Thr) SNV Pathogenic
190334 rs61060395 GRCh37: 17:42992637-42992637
GRCh38: 17:44915269-44915269
23 GFAP NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) SNV Pathogenic
66460 rs60343255 GRCh37: 17:42992647-42992647
GRCh38: 17:44915279-44915279
24 GFAP NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) SNV Pathogenic
66468 rs57590980 GRCh37: 17:42992625-42992625
GRCh38: 17:44915257-44915257
25 GFAP NM_002055.5(GFAP):c.259G>A (p.Val87Ile) SNV Pathogenic
190339 rs267607518 GRCh37: 17:42992596-42992596
GRCh38: 17:44915228-44915228
26 GFAP NM_002055.5(GFAP):c.259G>C (p.Val87Leu) SNV Pathogenic
66477 rs267607518 GRCh37: 17:42992596-42992596
GRCh38: 17:44915228-44915228
27 GFAP NM_002055.5(GFAP):c.236G>A (p.Arg79His) SNV Pathogenic
190336 rs59285727 GRCh37: 17:42992619-42992619
GRCh38: 17:44915251-44915251
28 GFAP NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) SNV Pathogenic
66498 rs59565950 GRCh37: 17:42990701-42990701
GRCh38: 17:44913333-44913333
29 GFAP NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) SNV Pathogenic
190346 rs797044579 GRCh37: 17:42989155-42989155
GRCh38: 17:44911787-44911787
30 GFAP NM_002055.5(GFAP):c.803C>A (p.Ala268Asp) SNV Pathogenic
190349 rs797044582 GRCh37: 17:42989143-42989143
GRCh38: 17:44911775-44911775
31 GFAP NM_002055.5(GFAP):c.988C>G (p.Arg330Gly) SNV Pathogenic
190352 rs267607513 GRCh37: 17:42988743-42988743
GRCh38: 17:44911375-44911375
32 GFAP NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) SNV Pathogenic
66431 rs62636501 GRCh37: 17:42988652-42988652
GRCh38: 17:44911284-44911284
33 GFAP NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly) SNV Pathogenic
190357 rs797044588 GRCh37: 17:42988646-42988646
GRCh38: 17:44911278-44911278
34 GFAP NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) SNV Pathogenic
66428 rs267607515 GRCh37: 17:42988661-42988661
GRCh38: 17:44911293-44911293
35 GFAP NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) SNV Pathogenic
66515 rs267607514 GRCh37: 17:42988737-42988737
GRCh38: 17:44911369-44911369
36 GFAP NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe) SNV Pathogenic
190363 rs267607508 GRCh37: 17:42985496-42985496
GRCh38: 17:44908128-44908128
37 GFAP NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) SNV Likely Pathogenic
190362 rs797044590 GRCh37: 17:42988000-42988000
GRCh38: 17:44910632-44910632
38 GFAP NM_002055.5(GFAP):c.252C>G (p.Ile84Met) SNV Likely Pathogenic
432046 rs571151302 GRCh37: 17:42992603-42992603
GRCh38: 17:44915235-44915235
39 GFAP NM_002055.5(GFAP):c.215A>G (p.Glu72Gly) SNV Likely Pathogenic
374303 rs1057518685 GRCh37: 17:42992640-42992640
GRCh38: 17:44915272-44915272
40 GFAP NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys) SNV Likely Pathogenic
590968 rs1567773470 GRCh37: 17:42988606-42988606
GRCh38: 17:44911238-44911238
41 GFAP NM_002055.5(GFAP):c.706A>G (p.Lys236Glu) SNV Likely Pathogenic
1299244 GRCh37: 17:42990711-42990711
GRCh38: 17:44913343-44913343
42 GFAP NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile) SNV Likely Pathogenic
803429 rs1597853099 GRCh37: 17:42985454-42985454
GRCh38: 17:44908086-44908086
43 GFAP NM_002055.5(GFAP):c.1171+473C>A SNV Likely Pathogenic
805942 rs775524073 GRCh37: 17:42987510-42987510
GRCh38: 17:44910142-44910142
44 GFAP NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) SNV Conflicting Interpretations Of Pathogenicity
190332 rs797044569 GRCh37: 17:42992658-42992658
GRCh38: 17:44915290-44915290
45 GFAP NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) SNV Uncertain Significance
323625 rs147282497 GRCh37: 17:42992526-42992526
GRCh38: 17:44915158-44915158
46 GFAP NM_002055.5(GFAP):c.488T>C (p.Leu163Pro) SNV Uncertain Significance
808282 rs780225821 GRCh37: 17:42991430-42991430
GRCh38: 17:44914062-44914062
47 GFAP NM_002055.5(GFAP):c.145C>T (p.Arg49Trp) SNV Uncertain Significance
1709470 GRCh37: 17:42992710-42992710
GRCh38: 17:44915342-44915342
48 GFAP NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) SNV Uncertain Significance
66494 rs56679084 GRCh37: 17:42990750-42990750
GRCh38: 17:44913382-44913382
49 GFAP NM_002055.5(GFAP):c.1171+5G>A SNV Uncertain Significance
323610 rs759032212 GRCh37: 17:42987978-42987978
GRCh38: 17:44910610-44910610
50 GFAP NM_002055.5(GFAP):c.930G>A (p.Met310Ile) SNV Uncertain Significance
548570 rs755602073 GRCh37: 17:42988801-42988801
GRCh38: 17:44911433-44911433
51 GFAP NM_002055.5(GFAP):c.1171+144T>C SNV Uncertain Significance
930563 rs560230868 GRCh37: 17:42987839-42987839
GRCh38: 17:44910471-44910471
52 GFAP NM_002055.5(GFAP):c.1171+472G>C SNV Uncertain Significance
931895 rs748860341 GRCh37: 17:42987511-42987511
GRCh38: 17:44910143-44910143
53 GFAP NM_002055.5(GFAP):c.462-2A>G SNV Uncertain Significance
1029407 rs1338213981 GRCh37: 17:42991458-42991458
GRCh38: 17:44914090-44914090
54 GFAP NM_002055.5(GFAP):c.697G>A (p.Ala233Thr) SNV Uncertain Significance
1032795 rs1220287768 GRCh37: 17:42990720-42990720
GRCh38: 17:44913352-44913352
55 GFAP NM_002055.5(GFAP):c.793A>G (p.Thr265Ala) SNV Uncertain Significance
1064519 rs758250219 GRCh37: 17:42989153-42989153
GRCh38: 17:44911785-44911785
56 GFAP NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) SNV Uncertain Significance
522797 rs983143417 GRCh37: 17:42988742-42988742
GRCh38: 17:44911374-44911374
57 GFAP NM_002055.5(GFAP):c.381C>T (p.Leu127=) SNV Uncertain Significance
323622 rs138320302 GRCh37: 17:42992474-42992474
GRCh38: 17:44915106-44915106
58 GFAP NM_002055.5(GFAP):c.1171+420C>T SNV Uncertain Significance
225373 rs180974014 GRCh37: 17:42987563-42987563
GRCh38: 17:44910195-44910195
59 GFAP NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) SNV Uncertain Significance
190351 rs763868966 GRCh37: 17:42988797-42988797
GRCh38: 17:44911429-44911429
60 GFAP NM_002055.5(GFAP):c.462-8dup DUP Likely Benign
323620 rs572562362 GRCh37: 17:42991463-42991464
GRCh38: 17:44914095-44914096
61 GFAP NM_002055.5(GFAP):c.*16G>A SNV Likely Benign
323608 rs113487550 GRCh37: 17:42984699-42984699
GRCh38: 17:44907331-44907331
62 GFAP NM_002055.5(GFAP):c.858G>C (p.Arg286=) SNV Likely Benign
917886 rs2289681 GRCh37: 17:42989088-42989088
GRCh38: 17:44911720-44911720
63 GFAP NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) SNV Likely Benign
66457 rs57474185 GRCh37: 17:42992715-42992715
GRCh38: 17:44915347-44915347
64 GFAP NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) SNV Not Provided
190333 rs797044570 GRCh37: 17:42992650-42992650
GRCh38: 17:44915282-44915282
65 GFAP NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) SNV Not Provided
66461 rs267607510 GRCh37: 17:42992646-42992646
GRCh38: 17:44915278-44915278
66 GFAP NM_002055.5(GFAP):c.232G>A (p.Asp78Asn) SNV Not Provided
190335 rs797044571 GRCh37: 17:42992623-42992623
GRCh38: 17:44915255-44915255
67 GFAP NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) SNV Not Provided
66470 rs59793293 GRCh37: 17:42992620-42992620
GRCh38: 17:44915252-44915252
68 GFAP NM_002055.5(GFAP):c.214G>A (p.Glu72Lys) SNV Not Provided
66463 rs267607523 GRCh37: 17:42992641-42992641
GRCh38: 17:44915273-44915273
69 GFAP NM_002055.5(GFAP):c.221T>C (p.Met74Thr) SNV Not Provided
66466 rs267607504 GRCh37: 17:42992634-42992634
GRCh38: 17:44915266-44915266
70 GFAP NM_002055.5(GFAP):c.218T>G (p.Met73Arg) SNV Not Provided
66465 rs61060395 GRCh37: 17:42992637-42992637
GRCh38: 17:44915269-44915269
71 GFAP NM_002055.5(GFAP):c.218T>A (p.Met73Lys) SNV Not Provided
66464 rs61060395 GRCh37: 17:42992637-42992637
GRCh38: 17:44915269-44915269
72 GFAP NM_002055.5(GFAP):c.226C>G (p.Leu76Val) SNV Not Provided
66467 rs57120761 GRCh37: 17:42992629-42992629
GRCh38: 17:44915261-44915261
73 GFAP NM_002055.5(GFAP):c.692T>A (p.Leu231His) SNV Not Provided
190343 rs797044577 GRCh37: 17:42990725-42990725
GRCh38: 17:44913357-44913357
74 GFAP NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) SNV Not Provided
66495 rs60269890 GRCh37: 17:42990713-42990713
GRCh38: 17:44913345-44913345
75 GFAP NM_002055.5(GFAP):c.707A>C (p.Lys236Thr) SNV Not Provided
66496 rs267607525 GRCh37: 17:42990710-42990710
GRCh38: 17:44913342-44913342
76 GFAP NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) SNV Not Provided
190344 rs58064122 GRCh37: 17:42990702-42990702
GRCh38: 17:44913334-44913334
77 GFAP NM_002055.5(GFAP):c.716G>C (p.Arg239Pro) SNV Not Provided
66497 rs59565950 GRCh37: 17:42990701-42990701
GRCh38: 17:44913333-44913333
78 GFAP NM_002055.5(GFAP):c.236G>C (p.Arg79Pro) SNV Not Provided
66471 rs59285727 GRCh37: 17:42992619-42992619
GRCh38: 17:44915251-44915251
79 GFAP NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) SNV Not Provided
66472 rs59285727 GRCh37: 17:42992619-42992619
GRCh38: 17:44915251-44915251
80 GFAP NM_002055.5(GFAP):c.239T>C (p.Phe80Ser) SNV Not Provided
190337 rs797044572 GRCh37: 17:42992616-42992616
GRCh38: 17:44915248-44915248
81 GFAP NM_002055.5(GFAP):c.247T>C (p.Tyr83His) SNV Not Provided
66473 rs267607506 GRCh37: 17:42992608-42992608
GRCh38: 17:44915240-44915240
82 GFAP NM_002055.5(GFAP):c.256A>G (p.Lys86Glu) SNV Not Provided
190338 rs797044573 GRCh37: 17:42992599-42992599
GRCh38: 17:44915231-44915231
83 GFAP NM_002055.5(GFAP):c.260T>G (p.Val87Gly) SNV Not Provided
66478 rs60449251 GRCh37: 17:42992595-42992595
GRCh38: 17:44915227-44915227
84 GFAP NM_002055.5(GFAP):c.269T>C (p.Leu90Pro) SNV Not Provided
66479 rs59661476 GRCh37: 17:42992586-42992586
GRCh38: 17:44915218-44915218
85 GFAP NM_002055.5(GFAP):c.278A>C (p.Gln93Pro) SNV Not Provided
190340 rs797044574 GRCh37: 17:42992577-42992577
GRCh38: 17:44915209-44915209
86 GFAP NM_002055.5(GFAP):c.290T>C (p.Leu97Pro) SNV Not Provided
66480 rs59568967 GRCh37: 17:42992565-42992565
GRCh38: 17:44915197-44915197
87 GFAP NM_002055.5(GFAP):c.302T>C (p.Leu101Pro) SNV Not Provided
66481 rs267607516 GRCh37: 17:42992553-42992553
GRCh38: 17:44915185-44915185
88 GFAP NM_002055.5(GFAP):c.365_373dup (p.Arg124_Leu125insGlnLeuArg) DUP Not Provided
190341 rs797044575 GRCh37: 17:42992481-42992482
GRCh38: 17:44915113-44915114
89 GFAP NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) SNV Not Provided
66484 rs267607509 GRCh37: 17:42992473-42992473
GRCh38: 17:44915105-44915105
90 GFAP NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) SNV Not Provided
66488 rs267607507 GRCh37: 17:42991101-42991101
GRCh38: 17:44913733-44913733
91 GFAP NM_002055.5(GFAP):c.619G>A (p.Glu207Lys) SNV Not Provided
66491 rs267607500 GRCh37: 17:42990798-42990798
GRCh38: 17:44913430-44913430
92 GFAP NM_002055.5(GFAP):c.619G>C (p.Glu207Gln) SNV Not Provided
66492 rs267607500 GRCh37: 17:42990798-42990798
GRCh38: 17:44913430-44913430
93 GFAP NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) SNV Not Provided
66493 rs57661783 GRCh37: 17:42990789-42990789
GRCh38: 17:44913421-44913421
94 GFAP NM_002055.5(GFAP):c.1249del (p.Asp417fs) DEL Not Provided
190365 rs797044591 GRCh37: 17:42985440-42985440
GRCh38: 17:44908072-44908072
95 GFAP NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) INDEL Not Provided
66475 rs267607501 GRCh37: 17:42992596-42992599
GRCh38: 17:44915228-44915231
96 GFAP NM_002055.5(GFAP):c.369GCGGCT[3] (p.124RL[3]) MICROSAT Not Provided
190342 rs797044576 GRCh37: 17:42992474-42992475
GRCh38: 17:44915106-44915107
97 GFAP NM_002055.5(GFAP):c.1074C>G (p.Ala358=) SNV Not Provided
190356 rs797044587 GRCh37: 17:42988657-42988657
GRCh38: 17:44911289-44911289
98 GFAP NM_002055.5(GFAP):c.619-3C>G SNV Not Provided
190368 rs112611995 GRCh37: 17:42990801-42990801
GRCh38: 17:44913433-44913433
99 GFAP NM_002055.5(GFAP):c.187A>C (p.Lys63Gln) SNV Not Provided
66459 rs60095124 GRCh37: 17:42992668-42992668
GRCh38: 17:44915300-44915300
100 GFAP NM_002055.5(GFAP):c.992T>C (p.Leu331Pro) SNV Not Provided
66514 rs59985777 GRCh37: 17:42988739-42988739
GRCh38: 17:44911371-44911371
101 GFAP NM_002055.5(GFAP):c.835A>G (p.Lys279Glu) SNV Not Provided
66507 rs58536923 GRCh37: 17:42989111-42989111
GRCh38: 17:44911743-44911743
102 GFAP NM_002055.5(GFAP):c.868C>G (p.Gln290Glu) SNV Not Provided
190350 rs797044583 GRCh37: 17:42989078-42989078
GRCh38: 17:44911710-44911710
103 GFAP NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro) INDEL Not Provided
190347 rs797044580 GRCh37: 17:42989154-42989155
GRCh38: 17:44911786-44911787
104 GFAP NM_002055.5(GFAP):c.799G>C (p.Ala267Pro) SNV Not Provided
190348 rs797044581 GRCh37: 17:42989147-42989147
GRCh38: 17:44911779-44911779
105 GFAP NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) SNV Not Provided
66499 rs60551555 GRCh37: 17:42990693-42990693
GRCh38: 17:44913325-44913325
106 GFAP NM_002055.5(GFAP):c.731C>T (p.Ala244Val) SNV Not Provided
66500 rs61497286 GRCh37: 17:42990686-42990686
GRCh38: 17:44913318-44913318
107 GFAP NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) SNV Not Provided
66501 rs267607519 GRCh37: 17:42990678-42990678
GRCh38: 17:44913310-44913310
108 GFAP NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) SNV Not Provided
66502 rs61726470 GRCh37: 17:42990659-42990659
GRCh38: 17:44913291-44913291
109 GFAP NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys) SNV Not Provided
66504 rs267607505 GRCh37: 17:42990647-42990647
GRCh38: 17:44913279-44913279
110 GFAP NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) SNV Not Provided
190345 rs797044578 GRCh37: 17:42990645-42990645
GRCh38: 17:44913277-44913277
111 GFAP NM_002055.5(GFAP):c.773G>C (p.Arg258Pro) SNV Not Provided
66505 rs61726468 GRCh37: 17:42990644-42990644
GRCh38: 17:44913276-44913276
112 GFAP NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr) SNV Not Provided
190358 rs58645997 GRCh37: 17:42988641-42988641
GRCh38: 17:44911273-44911273
113 GFAP NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro) SNV Not Provided
66432 rs58645997 GRCh37: 17:42988641-42988641
GRCh38: 17:44911273-44911273
114 GFAP NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) SNV Not Provided
66433 rs267607503 GRCh37: 17:42988640-42988640
GRCh38: 17:44911272-44911272
115 GFAP NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) SNV Not Provided
66434 rs58008462 GRCh37: 17:42988635-42988635
GRCh38: 17:44911267-44911267
116 GFAP NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys) SNV Not Provided
66435 rs267607502 GRCh37: 17:42988634-42988634
GRCh38: 17:44911266-44911266
117 GFAP NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) SNV Not Provided
66436 rs267607526 GRCh37: 17:42988620-42988620
GRCh38: 17:44911252-44911252
118 GFAP NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly) SNV Not Provided
66437 rs57815192 GRCh37: 17:42988619-42988619
GRCh38: 17:44911251-44911251
119 GFAP NM_002055.5(GFAP):c.1112A>T (p.Glu371Val) SNV Not Provided
66438 rs57815192 GRCh37: 17:42988619-42988619
GRCh38: 17:44911251-44911251
120 GFAP NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) SNV Not Provided
66439 rs58075601 GRCh37: 17:42988614-42988614
GRCh38: 17:44911246-44911246
121 GFAP NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln) SNV Not Provided
66440 rs58075601 GRCh37: 17:42988614-42988614
GRCh38: 17:44911246-44911246
122 GFAP NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala) SNV Not Provided
190360 rs797044589 GRCh37: 17:42988613-42988613
GRCh38: 17:44911245-44911245
123 GFAP NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly) SNV Not Provided
66441 rs59628143 GRCh37: 17:42988610-42988610
GRCh38: 17:44911242-44911242
124 GFAP NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) SNV Not Provided
66443 rs267607512 GRCh37: 17:42988605-42988605
GRCh38: 17:44911237-44911237
125 GFAP NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile) SNV Not Provided
66447 rs267607517 GRCh37: 17:42988006-42988006
GRCh38: 17:44910638-44910638
126 GFAP NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe) SNV Not Provided
190361 rs797044590 GRCh37: 17:42988000-42988000
GRCh38: 17:44910632-44910632
127 GFAP NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) SNV Not Provided
66448 rs61726471 GRCh37: 17:42987997-42987997
GRCh38: 17:44910629-44910629
128 GFAP NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) SNV Not Provided
66452 rs62635764 GRCh37: 17:42985511-42985511
GRCh38: 17:44908143-44908143
129 GFAP NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Tyr349_Gln350insHisLeu) INSERT Not Provided
190353 rs797044584 GRCh37: 17:42988681-42988682
GRCh38: 17:44911313-44911314
130 GFAP NM_002055.5(GFAP):c.1051G>C (p.Asp351His) SNV Not Provided
190354 rs797044585 GRCh37: 17:42988680-42988680
GRCh38: 17:44911312-44911312
131 GFAP NM_002055.5(GFAP):c.1073C>T (p.Ala358Val) SNV Not Provided
190355 rs797044586 GRCh37: 17:42988658-42988658
GRCh38: 17:44911290-44911290
132 GFAP NM_002055.5(GFAP):c.1075C>G (p.Leu359Val) SNV Not Provided
66429 rs60825166 GRCh37: 17:42988656-42988656
GRCh38: 17:44911288-44911288
133 GFAP NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) SNV Not Provided
66430 rs267607511 GRCh37: 17:42988655-42988655
GRCh38: 17:44911287-44911287
134 GFAP NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr) SNV Not Provided
66453 rs267607508 GRCh37: 17:42985496-42985496
GRCh38: 17:44908128-44908128
135 GFAP NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala) SNV Not Provided
66454 rs267607520 GRCh37: 17:42985439-42985439
GRCh38: 17:44908071-44908071
136 GFAP NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu) SNV Not Provided
66456 rs267607521 GRCh37: 17:42984737-42984737
GRCh38: 17:44907369-44907369
137 GFAP NM_002055.5(GFAP):c.1171+472G>A SNV Not Provided
190367 rs748860341 GRCh37: 17:42987511-42987511
GRCh38: 17:44910143-44910143

UniProtKB/Swiss-Prot genetic disease variations for Alexander Disease:

73 (showing 62, show less)
# Symbol AA change Variation ID SNP ID
1 GFAP p.Leu76Phe VAR_017465 rs57120761
2 GFAP p.Asn77Tyr VAR_017466 rs58732244
3 GFAP p.Arg79Cys VAR_017467 rs59793293
4 GFAP p.Arg79His VAR_017468 rs59285727
5 GFAP p.Arg88Cys VAR_017469 rs61622935
6 GFAP p.Arg88Ser VAR_017470 rs61622935
7 GFAP p.Arg239Cys VAR_017471 rs58064122
8 GFAP p.Arg239His VAR_017472 rs59565950
9 GFAP p.Arg258Pro VAR_017474 rs61726468
10 GFAP p.Glu362Asp VAR_017475 rs121909718
11 GFAP p.Arg416Trp VAR_017476 rs121909717
12 GFAP p.Asp78Glu VAR_017477 rs121909720
13 GFAP p.Lys63Gln VAR_071517 rs60095124
14 GFAP p.Arg66Gln VAR_071518 rs797044569
15 GFAP p.Arg70Gln VAR_071519 rs267607510
16 GFAP p.Arg70Trp VAR_071520 rs60343255
17 GFAP p.Glu72Lys VAR_071521 rs267607523
18 GFAP p.Met73Lys VAR_071522 rs61060395
19 GFAP p.Met73Arg VAR_071523 rs61060395
20 GFAP p.Met73Thr VAR_071524 rs61060395
21 GFAP p.Met74Thr VAR_071525 rs267607504
22 GFAP p.Leu76Val VAR_071526 rs57120761
23 GFAP p.Asn77Lys VAR_071527
24 GFAP p.Asn77Ser VAR_071528 rs57590980
25 GFAP p.Asp78Asn VAR_071529 rs797044571
26 GFAP p.Arg79Gly VAR_071530 rs59793293
27 GFAP p.Arg79Leu VAR_071531 rs59285727
28 GFAP p.Arg79Pro VAR_071532 rs59285727
29 GFAP p.Tyr83His VAR_071533 rs267607506
30 GFAP p.Lys86Glu VAR_071534 rs797044573
31 GFAP p.Leu90Pro VAR_071535 rs59661476
32 GFAP p.Leu97Pro VAR_071536 rs59568967
33 GFAP p.Leu101Pro VAR_071537 rs267607516
34 GFAP p.Glu207Lys VAR_071540 rs267607500
35 GFAP p.Glu207Gln VAR_071541 rs267607500
36 GFAP p.Glu210Lys VAR_071542 rs57661783
37 GFAP p.Leu235Pro VAR_071543 rs60269890
38 GFAP p.Lys236Thr VAR_071544 rs267607525
39 GFAP p.Arg239Leu VAR_071545 rs59565950
40 GFAP p.Arg239Pro VAR_071546 rs59565950
41 GFAP p.Tyr242Asp VAR_071547 rs60551555
42 GFAP p.Ala253Gly VAR_071548 rs61726470
43 GFAP p.Tyr257Cys VAR_071549 rs267607505
44 GFAP p.Ala267Pro VAR_071550 rs797044581
45 GFAP p.Arg276Leu VAR_071551 rs121909719
46 GFAP p.Lys279Glu VAR_071552 rs58536923
47 GFAP p.Arg330Gly VAR_071553 rs267607513
48 GFAP p.Glu332Lys VAR_071554 rs267607514
49 GFAP p.Leu352Pro VAR_071555 rs28932769
50 GFAP p.Leu359Pro VAR_071556 rs267607511
51 GFAP p.Leu359Val VAR_071557 rs60825166
52 GFAP p.Ala364Pro VAR_071558 rs58645997
53 GFAP p.Tyr366His VAR_071559 rs58008462
54 GFAP p.Glu371Gln VAR_071560 rs267607526
55 GFAP p.Glu371Val VAR_071561 rs57815192
56 GFAP p.Glu373Asp VAR_071562
57 GFAP p.Glu373Lys VAR_071563 rs58075601
58 GFAP p.Glu373Gln VAR_071564 rs58075601
59 GFAP p.Glu374Gly VAR_071565 rs59628143
60 GFAP p.Glu374Gln VAR_071566
61 GFAP p.Arg376Gly VAR_071567 rs267607512
62 GFAP p.Ser385Phe VAR_071568 rs797044590

Expression for Alexander Disease

Search GEO for disease gene expression data for Alexander Disease.

Pathways for Alexander Disease

GO Terms for Alexander Disease

Cellular components related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 10 VIM SLC1A2 PLEC HTT HDAC6 CRYAB
2 intermediate filament GO:0005882 9.92 VIM SYNM PLEC GFAP
3 intermediate filament cytoskeleton GO:0045111 9.56 VIM SYNM PLEC GFAP
4 astrocyte projection GO:0097449 9.55 SLC1A2 KCNJ10 GFAP
5 contractile fiber GO:0043292 8.8 PLEC HSPB1 CRYAB

Biological processes related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 response to unfolded protein GO:0006986 9.95 HSPB3 HSPB2 HSPB1
2 regulation of macroautophagy GO:0016241 9.91 MTOR HDAC6 CASP3
3 response to amino acid GO:0043200 9.8 CASP3 MTOR SLC1A2
4 regulation of protein phosphorylation GO:0001932 9.76 MTOR HSPB1 HDAC6
5 D-aspartate import across plasma membrane GO:0070779 9.71 SLC1A2 GFAP
6 negative regulation of intracellular transport GO:0032387 9.67 CRYAB CRYAA
7 astrocyte development GO:0014002 9.63 VIM PLP1 GFAP
8 protein refolding GO:0042026 9.56 HSPB2 HSPB1 CRYAB CRYAA
9 response to heat GO:0009408 9.32 MTOR HSPB2 HSPB1 CRYAB CRYAA
10 intermediate filament-based process GO:0045103 9.26 VIM GFAP

Molecular functions related to Alexander Disease according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 9.86 PLP1 PLEC CRYAB CRYAA
2 unfolded protein binding GO:0051082 9.76 HSPB2 HSPB1 CRYAB CRYAA
3 structural constituent of cytoskeleton GO:0005200 9.56 VIM SYNM PLEC GFAP
4 structural constituent of eye lens GO:0005212 9.23 VIM HSPB2 CRYAB CRYAA

Sources for Alexander Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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