ALXDRD
MCID: ALX003
MIFTS: 63

Alexander Disease (ALXDRD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases

Aliases & Classifications for Alexander Disease

Aliases & Descriptions for Alexander Disease:

Name: Alexander Disease 54 12 71 23 50 24 25 51 56 66 13 42 14 69
Alexander's Disease 12 25 66 29
Alexanders Leukodystrophy 50 69
Axd 25 56
Megalencephaly in Infancy Accompanied by Progressive Spasticity and Dementia 50
Fibrinoid Degeneration of Astrocytes 25
Leukodystrophy with Rosenthal Fibers 25
Dysmyelinogenic Leukodystrophy 25
Demyelinogenic Leukodystrophy 25
Alexanders Disease 52
Alxdrd 66
Alx 25

Characteristics:

Orphanet epidemiological data:

56
alexander disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Japan); Age of onset: All ages; Age of death: any age;

GeneReviews:

23
alexander disease:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


GeneReviews:

23
Penetrance Penetrance appears to be nearly 100% in individuals with the infantile and juvenile forms [li et al 2002, messing &amp; brenner 2003a]...

Classifications:



External Ids:

OMIM 54 203450
Disease Ontology 12 DOID:4252
MeSH 42 D038261
NCIt 47 C84545
SNOMED-CT 64 81854007
Orphanet 56 ORPHA58
MESH via Orphanet 43 D038261
UMLS via Orphanet 70 C0270726
ICD10 via Orphanet 34 E75.2
MedGen 40 C0270726
UMLS 69 C0270726

Summaries for Alexander Disease

NINDS : 51 Alexander disease is one of a group of neurological conditions known as the leukodystrophies, disorders that are the result of abnormalities in myelin, the “white matter” that protects nerve fibers in the brain. Alexander disease is a progressive and often fatal disease.  The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes.  Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease.  The infantile form is the most common type of Alexander disease.  It has an onset during the first two years of life.  Usually there are both 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 is less common and has an onset between the ages of two and thirteen.  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.

MalaCards based summary : Alexander Disease, also known as alexander's disease, is related to alexander disease type ii and alexander disease type i, and has symptoms including ataxia, constipation and seizures. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Neural Crest Differentiation and Regulation of degradation of deltaF508 CFTR in CF. The drugs Iron and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and cellular

NIH Rare Diseases : 50 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. most cases of alexander disease begin before age 2 years (the infantile form). symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, mental retardation, and delayed physical development. less frequently, onset occurs later in childhood (the juvenile form) or adulthood. common problems in juvenile and adult forms of alexander disease include speech abnormalities, swallowing difficulties, and poor coordination. alexander disease is caused by mutations in the gfap gene. while this condition is inherited in an autosomal dominant fashion, most cases result from new mutations in the gene. last updated: 12/29/2015

UniProtKB/Swiss-Prot : 66 Alexander disease: 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.

Genetics Home Reference : 25 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.

OMIM : 54 In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile,... (203450) more...

Disease Ontology : 12 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 : 71 Alexander disease, also known as fibrinoid leukodystrophy, is a progressive and fatal neurodegenerative... more...

GeneReviews: NBK1172

Related Diseases for Alexander Disease

Diseases in the Alexander Disease family:

Alexander Disease Type Ii Alexander Disease Type I

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

(show all 29)
id Related Disease Score Top Affiliating Genes
1 alexander disease type ii 11.8
2 alexander disease type i 11.8
3 leukodystrophy 11.3
4 deafness, autosomal recessive 101 10.0 CRYAB GFAP
5 spasticity 9.9
6 cerebritis 9.9
7 brain stem astrocytic neoplasm 9.9 GFAP SYNM
8 paraplegia 9.9
9 glioma 9.9
10 ataxia 9.9
11 microphthalmia 9.8
12 endometriosis 9.8
13 tremor 9.8
14 scoliosis 9.8
15 encephalopathy 9.8
16 epithelioid type angiomyolipoma 9.8 CRYAB GFAP HTT
17 long qt syndrome 5 9.7 GFAP HSPB1 HTT
18 sleep apnea 9.6
19 spastic ataxia 9.6
20 cervicitis 9.6
21 neuronitis 9.6
22 mitochondrial disorders 9.6
23 alzheimer disease 9.6
24 megalencephalic leukoencephalopathy with subcortical cysts 9.6
25 autonomic dysfunction 9.6
26 brain injury 9.6
27 traumatic brain injury 9.6
28 myoclonus 9.6
29 narcolepsy 1 8.8 CRYAB GFAP HDAC6 HSPB1 HTT NDUFV1

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



Diseases related to Alexander Disease

Symptoms & Phenotypes for Alexander Disease

Symptoms by clinical synopsis from OMIM:

203450

Clinical features from OMIM:

203450

Human phenotypes related to Alexander Disease:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 constipation 56 32 Frequent (79-30%) HP:0002019
3 seizures 56 32 Very frequent (99-80%) HP:0001250
4 tremor 56 32 Frequent (79-30%) HP:0001337
5 nausea and vomiting 56 32 Very frequent (99-80%) HP:0002017
6 clonus 56 32 Very frequent (99-80%) HP:0002169
7 abnormal pyramidal signs 56 32 Very frequent (99-80%) HP:0007256
8 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
9 short neck 56 32 Occasional (29-5%) HP:0000470
10 agenesis of corpus callosum 56 32 Very frequent (99-80%) HP:0001274
11 frontal bossing 56 32 Very frequent (99-80%) HP:0002007
12 high palate 56 32 Occasional (29-5%) HP:0000218
13 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
14 ptosis 56 32 Frequent (79-30%) HP:0000508
15 nystagmus 56 32 Frequent (79-30%) HP:0000639
16 diplopia 56 32 Frequent (79-30%) HP:0000651
17 emotional lability 56 32 Frequent (79-30%) HP:0000712
18 depression 56 32 Frequent (79-30%) HP:0000716
19 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
20 hypothyroidism 56 32 Occasional (29-5%) HP:0000821
21 hypertension 56 32 Occasional (29-5%) HP:0000822
22 precocious puberty 56 32 Occasional (29-5%) HP:0000826
23 osteopenia 56 32 Occasional (29-5%) HP:0000938
24 hyperhidrosis 56 32 Frequent (79-30%) HP:0000975
25 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
26 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
27 spasticity 56 32 Very frequent (99-80%) HP:0001257
28 dysarthria 56 32 Frequent (79-30%) HP:0001260
29 gait disturbance 56 32 Frequent (79-30%) HP:0001288
30 megalencephaly 56 32 Very frequent (99-80%) HP:0001355
31 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
32 dysphonia 56 32 Frequent (79-30%) HP:0001618
33 sudden cardiac death 56 32 Occasional (29-5%) HP:0001645
34 dysphagia 56 32 Frequent (79-30%) HP:0002015
35 hypothermia 56 32 Frequent (79-30%) HP:0002045
36 chorea 56 32 Occasional (29-5%) HP:0002072
37 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
38 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
39 dysphasia 56 32 Frequent (79-30%) HP:0002357
40 developmental regression 56 32 Occasional (29-5%) HP:0002376
41 encephalitis 56 32 Occasional (29-5%) HP:0002383
42 aqueductal stenosis 56 32 Occasional (29-5%) HP:0002410
43 tetraplegia 56 32 Frequent (79-30%) HP:0002445
44 dysautonomia 56 32 Occasional (29-5%) HP:0002459
45 cerebral calcification 56 32 Frequent (79-30%) HP:0002514
46 bowel incontinence 56 32 Occasional (29-5%) HP:0002607
47 hypotension 56 32 Frequent (79-30%) HP:0002615
48 scoliosis 56 32 Very frequent (99-80%) HP:0002650
49 kyphosis 56 32 Frequent (79-30%) HP:0002808
50 hyperlordosis 56 32 Occasional (29-5%) HP:0003307

UMLS symptoms related to Alexander Disease:


muscle spasticity, seizures

MGI Mouse Phenotypes related to Alexander Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.63 CRYAB GFAP HDAC6 HTT PLEC SYNM
2 cellular MP:0005384 9.43 HSPB1 HTT PLEC CRYAB GFAP HDAC6
3 normal MP:0002873 9.02 GFAP HDAC6 HSPB1 HTT PLEC

Drugs & Therapeutics for Alexander Disease

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

(show top 50) (show all 767)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
2
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
3
Enfuvirtide Approved, Investigational Phase 4 159519-65-0 16130199
4
Levobupivacaine Approved Phase 4 27262-47-1 92253
5
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
6
Risperidone Approved, Investigational Phase 4,Phase 1 106266-06-2 5073
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 2,Phase 3 437-38-7 3345
8
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
9
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
10
Ribavirin Approved Phase 4,Phase 2 36791-04-5 37542
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
13
Morphine Approved, Investigational Phase 4,Phase 3 57-27-2 5288826
14
Levodopa Approved Phase 4,Phase 2 59-92-7 6047
15 Piracetam Approved Phase 4 7491-74-9
16
Allopurinol Approved Phase 4,Phase 1 315-30-0 2094
17
Norepinephrine Approved Phase 4,Phase 3,Early Phase 1 51-41-2 439260
18
Cabergoline Approved Phase 4,Phase 3 81409-90-7 54746
19
Rasagiline Approved Phase 4 136236-51-6 3052776
20
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
21
Baclofen Approved Phase 4 1134-47-0 2284
22
Ethanol Approved Phase 4,Phase 3 64-17-5 702
23
Lopinavir Approved Phase 4,Phase 2 192725-17-0 92727
24
Ritonavir Approved, Investigational Phase 4,Phase 2 155213-67-5 392622
25
Ramipril Approved Phase 4 87333-19-5 5362129
26
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
27
Celecoxib Approved, Investigational Phase 4,Phase 3 169590-42-5 2662
28
Liraglutide Approved Phase 4,Phase 3 204656-20-2
29
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
30
Ticagrelor Approved Phase 4,Phase 3,Phase 2 274693-27-5 9871419
31
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2 9005-49-6 772 46507594
32
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
33
Clozapine Approved Phase 4,Phase 3 5786-21-0 2818
34
Guaifenesin Approved, Vet_approved Phase 4,Phase 1 93-14-1 3516
35
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
36
Ranibizumab Approved Phase 4,Phase 3,Phase 2 347396-82-1 459903
37
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 3 16590-41-3 5360515
38
Ibuprofen Approved Phase 4 15687-27-1 3672
39
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
40
Oxymorphone Approved, Investigational, Vet_approved Phase 4 76-41-5 5284604
41
Gabapentin Approved, Investigational Phase 4,Phase 1 60142-96-3 3446
42
Fosfomycin Approved Phase 4 23155-02-4 446987
43
Efinaconazole Approved Phase 4 164650-44-6
44
Ledipasvir Approved Phase 4 1256388-51-8 67505836
45
Sofosbuvir Approved Phase 4,Phase 3 1190307-88-0 45375808
46
Letrozole Approved, Investigational Phase 4,Phase 3 112809-51-5 3902
47
Palbociclib Approved Phase 4,Phase 3,Phase 2 571190-30-2 11431660 5005498 5330286
48
Tranexamic Acid Approved Phase 4 1197-18-8 5526
49
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
50
Lorazepam Approved Phase 4 846-49-1 3958

Interventional clinical trials:

(show top 50) (show all 963)
id Name Status NCT ID Phase
1 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
2 Different Iron Supplements for Prevention of Anemia in Pregnancy Unknown status NCT02487719 Phase 4
3 A Study Comparing Photoselective Vaporization of the Prostate With the GreenLight XPS™ Laser System and Transurethral Resection of the Prostate for the Treatment of Benign Prostatic Hyperplasia Unknown status NCT01218672 Phase 4
4 Inflammatory, Functional and Image Composite Measure to Define Asthma Control Unknown status NCT00597064 Phase 4
5 Ventricular Pacing Site Selection (V-PASS) Unknown status NCT00292383 Phase 4
6 A Study of Arbidol (Umifenovir) for Treatment and Prophylaxis of Influenza and Common Cold Unknown status NCT01651663 Phase 4
7 A Dose Finding Study for Pain Relief of a Broken Hip Unknown status NCT00926666 Phase 4
8 Comparison of Cognitive Functions of Schizophrenic Patients Treated With Sertindole Versus Risperidone Unknown status NCT00480844 Phase 4
9 Sevoflurane Decreases the Risk of Postoperative Delirium After Cerebral Hypoxemia During Surgery Unknown status NCT02133638 Phase 4
10 Using Non-Fluoroscopic Imaging Devices to Decrease Radiation Exposure During Ablation of Supraventricular Tachycardia Unknown status NCT00979303 Phase 4
11 Efficacy and Safety of Levetiracetam Versus Placebo on Levodopa-induced Dyskinesias in Advanced Parkinson's Disease Completed NCT00307450 Phase 4
12 Allopurinol Maintenance Study for Bipolar Disorder Completed NCT00732251 Phase 4
13 Lisdexamfetamine Dimesylate in Residual Symptoms and Cognitive Impairment in Major Depressive Disorder. Completed NCT01148979 Phase 4
14 Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson's Disease Completed NCT00153972 Phase 4
15 Effects of Rasagiline on Sleep Disturbances in Parkinson's Disease Completed NCT01442610 Phase 4
16 A Pilot Study of Cranial Electrotherapy Stimulation[CES] for Generalized Anxiety Disorder Completed NCT00539357 Phase 4
17 Allopurinol Add-on Treatment for Refractory Mania Completed NCT00643123 Phase 4
18 A Double Blind, Randomized Placebo Controlled Study of the Efficacy, Safety and of Quetiapine Fumarate (Seroquel®) as Potentiation SSRI's, and SNRI's Treatment in Major Depression With Anxiety Completed NCT00229645 Phase 4
19 Navigation Repetitive Transcranial Magnetic Stimulation in Stroke Rehabilitation Completed NCT01652677 Phase 4
20 Study to Evaluate Initiation of Stalevo in Early Wearing-off Completed NCT00462007 Phase 4
21 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4
22 Paricalcitol Versus Calcitriol for the Management of Renocardiac Syndrome in Renal Transplant Patients Completed NCT01265615 Phase 4
23 Baclofen as Add-On to Standard Treatment of Alcohol- Dependent Patients Completed NCT01002105 Phase 4
24 Biventricular Tachycardias Outcome Trial Completed NCT00729235 Phase 4
25 Clinical Trial for the Evaluation of Three Regimens of Influenza Vaccination in Kidney Transplant Recipients Completed NCT02104869 Phase 4
26 A Trial of 2 Options for Second Line Combination Antiretroviral Therapy Following Virological Failure of a Standard Non-nucleoside Reverse Transcriptase Inhibitor (NNRTI)+2N(t)RTI First Line Regimen Completed NCT00931463 Phase 4
27 SurgiWrapTM to Reduce Soft Tissue Attachment & Incidence Early Post-Operative Bowel Obstruction in Colorectal Surgery Completed NCT00531739 Phase 4
28 Hypertension Study: Multinational Torasemide Trial in Mild to Moderate Hypertension. Completed NCT00334386 Phase 4
29 Trial to Compare the Effects of Either Telmisartan (40-80 mg PO Once Daily) or Ramipril (5-10 mg PO Once Daily) on Renal Endothelial Dysfunction in Hypertensive Patients With Type 2 Diabetes Completed NCT00240422 Phase 4
30 Timing and Duration of Acute Hepatitis C Treatment Completed NCT00241618 Phase 4
31 GI-Reasons- A Trial Of GI Safety Of Celecoxib Compared With Non-Selective Nonsteroidal Antiinflammatory Drugs (NSAIDS) Completed NCT00373685 Phase 4
32 Blood Pressure Outcomes With Liraglutide Therapy Completed NCT01755572 Phase 4
33 NAVISTAR® THERMOCOOL® SF Catheter: Observational Study Completed NCT01585961 Phase 4
34 Ticagrelor Antiplatelet Therapy to Reduce Graft Events and Thrombosis Recruiting NCT02053909 Phase 4
35 The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy Recruiting NCT02891174 Phase 4
36 Clinical and Immunological Efficiency of Bacterial Vaccines at Adult Patients With Bronchopulmonary Pathology Recruiting NCT02787863 Phase 4
37 An Extension (Rollover) Study of Vemurafenib in Participants With BRAF V600 Mutation-Positive Malignancies Previously Enrolled in an Antecedent Vemurafenib Protocol Recruiting NCT01739764 Phase 4
38 First Line Pazopanib in Poor Risk Patients With Metastatic Renal Cell Carcinoma Recruiting NCT01521715 Phase 4
39 Surgical Treatment of Ischemic Mitral Regurgitation Recruiting NCT01368575 Phase 4
40 Investigating Different Anticoagulants for Renal Replacement Therapy Recruiting NCT02669589 Phase 4
41 Structured Discontinuation vs Continued Therapy in Suboptimal and Optimal Responders to High-dose Long-term Opioids for Chronic Pain Recruiting NCT02741076 Phase 4
42 Clinical Trial of Efficacy and Safety of Ergoferon in the Treatment of Acute Respiratory Viral Infections in Children Recruiting NCT03039621 Phase 4
43 An Extension Study to Evaluate the Efficacy and Safety of HORIZANT in Adolescents With Moderate-to-Severe Primary RLS Recruiting NCT02633683 Phase 4
44 An Efficacy and Safety Evaluation of HORIZANT in Adolescents With Moderate-to-Severe Primary RLS Recruiting NCT02560766 Phase 4
45 Reducing Antibiotic Use for Uncomplicated Urinary Tract Infection in General Practice by Treatment With Uva Ursi (UU)- a Comparative Effectiveness Trial Recruiting NCT03151603 Phase 4
46 Safety and Pharmacokinetics of Efinaconazole Topical Solution in Subjects With Mild to Severe Onychomycosis Recruiting NCT02812771 Phase 4
47 Study of Oral Treatments for Hepatitis C Recruiting NCT02786537 Phase 4
48 Palbociclib In Combination With Letrozole As Treatment Of Post-Menopausal Women With HR+, HER2- Advanced Breast Cancer Recruiting NCT02679755 Phase 4
49 Effect of Topical and Intravenous Tranexamic Acid (TXA) on Thrombogenic Markers in Patients Undergoing Knee Replacement Recruiting NCT02540226 Phase 4
50 Clozapine Plasma Levels and the Relationship to the Genetic Polymorphism in Shizophrenic Patients Recruiting NCT01663077 Phase 4

Search NIH Clinical Center for Alexander Disease

Cochrane evidence based reviews: alexander disease

Genetic Tests for Alexander Disease

Genetic tests related to Alexander Disease:

id Genetic test Affiliating Genes
1 Alexander's Disease 29
2 Alexander Disease 24 GFAP

Anatomical Context for Alexander Disease

MalaCards organs/tissues related to Alexander Disease:

39
Brain, Eye, Cortex, Spinal Cord, Medulla Oblongata

Publications for Alexander Disease

Articles related to Alexander Disease:

(show top 50) (show all 207)
id Title Authors Year
1
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease. ( 28448978 )
2017
2
Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease. ( 28223355 )
2017
3
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease. ( 28459923 )
2017
4
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. ( 28359321 )
2017
5
Alexander Disease. ( 28112050 )
2017
6
Myelin changes in Alexander disease. ( 28342553 )
2017
7
Central hypothermia associated with Alexander disease. A case report. ( 28384596 )
2017
8
Disorders of Astrocytes: Alexander Disease as a Model. ( 28135564 )
2017
9
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease-Reply. ( 28459933 )
2017
10
Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease. ( 27298457 )
2016
11
Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. ( 27442695 )
2016
12
The Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease. ( 27193225 )
2016
13
A novel GFAP mutation in a type II (late-onset) Alexander disease patient. ( 26914930 )
2016
14
Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. ( 26719496 )
2016
15
Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases. ( 28360791 )
2016
16
Mapping of protein-protein interaction network of Alexander disease. ( 27262796 )
2016
17
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. ( 26743065 )
2016
18
Atypical MRI features in familial adult onset Alexander disease: case report. ( 27814755 )
2016
19
Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. ( 27638001 )
2016
20
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. ( 27648269 )
2016
21
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. ( 27402089 )
2016
22
Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. ( 25985984 )
2015
23
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene. ( 26396075 )
2015
24
Nitric oxide mediates glial-induced neurodegeneration in Alexander disease. ( 26608817 )
2015
25
CSF and Blood Levels of GFAP in Alexander Disease(1,2,3). ( 26478912 )
2015
26
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. ( 26486469 )
2015
27
Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene. ( 25997626 )
2015
28
Elevated GFAP induces astrocyte dysfunction in caudal brain regions: A potential mechanism for hindbrain involved symptoms in type II Alexander disease. ( 26190408 )
2015
29
Astrocyte pathology in Alexander disease causes a marked inflammatory environment. ( 26296699 )
2015
30
Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease. ( 26378915 )
2015
31
Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation. ( 25982497 )
2015
32
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. ( 26208460 )
2015
33
An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene. ( 25828773 )
2015
34
Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease. ( 26285664 )
2015
35
Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease. ( 23594359 )
2014
36
A new mutation in GFAP widens the spectrum of Alexander disease. ( 24961628 )
2014
37
Teaching neuroImages: late-onset Alexander disease. ( 25422405 )
2014
38
Infantile onset alexander disease with normal head circumference: a genetically proven case report. ( 25584279 )
2014
39
Neuroimaging and clinical features in type II (late-onset) Alexander disease. ( 24306001 )
2014
40
Astrocytic TDP-43 pathology in Alexander disease. ( 24806671 )
2014
41
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. ( 24742911 )
2014
42
Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease. ( 25069089 )
2014
43
Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease. ( 24755947 )
2014
44
Adult-onset Alexander disease: could facial myokymia be a symptom? ( 25410460 )
2014
45
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. ( 24045243 )
2013
46
Deficits in adult neurogenesis, contextual fear conditioning, and spatial learning in a Gfap mutant mouse model of Alexander disease. ( 24259590 )
2013
47
Alexander disease. ( 23149175 )
2013
48
Phenotypic conversions of "protoplasmic" to "reactive" astrocytes in Alexander disease. ( 23616550 )
2013
49
Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature. ( 23925719 )
2013
50
Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. ( 23272901 )
2013

Variations for Alexander Disease

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

66 (show top 50) (show all 62)
id 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 rs28932768
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
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

ClinVar genetic disease variations for Alexander Disease:

6 (show top 50) (show all 108)
id Gene Variation Type Significance SNP ID Assembly Location
1 GFAP NM_002055.4(GFAP): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs58064122 GRCh37 Chromosome 17, 42990702: 42990702
2 GFAP NM_002055.4(GFAP): c.716G> A (p.Arg239His) single nucleotide variant Pathogenic rs59565950 GRCh37 Chromosome 17, 42990701: 42990701
3 GFAP NM_002055.4(GFAP): c.1246C> T (p.Arg416Trp) single nucleotide variant Pathogenic rs121909717 GRCh37 Chromosome 17, 42985443: 42985443
4 GFAP NM_002055.4(GFAP): c.236G> A (p.Arg79His) single nucleotide variant Pathogenic rs59285727 GRCh37 Chromosome 17, 42992619: 42992619
5 GFAP NM_002055.4(GFAP): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs59793293 GRCh37 Chromosome 17, 42992620: 42992620
6 GFAP NM_002055.4(GFAP): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs61622935 GRCh37 Chromosome 17, 42992593: 42992593
7 GFAP NM_002055.4(GFAP): c.262C> A (p.Arg88Ser) single nucleotide variant Pathogenic rs61622935 GRCh37 Chromosome 17, 42992593: 42992593
8 GFAP NM_002055.4(GFAP): c.226C> T (p.Leu76Phe) single nucleotide variant Pathogenic rs57120761 GRCh37 Chromosome 17, 42992629: 42992629
9 GFAP NM_002055.4(GFAP): c.229A> T (p.Asn77Tyr) single nucleotide variant Pathogenic rs58732244 GRCh37 Chromosome 17, 42992626: 42992626
10 GFAP NM_002055.4(GFAP): c.1086G> C (p.Glu362Asp) single nucleotide variant Pathogenic rs121909718 GRCh37 Chromosome 17, 42988645: 42988645
11 GFAP NM_002055.4(GFAP): c.827G> T (p.Arg276Leu) single nucleotide variant Pathogenic rs121909719 GRCh37 Chromosome 17, 42989119: 42989119
12 GFAP NM_002055.4(GFAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs28932769 GRCh37 Chromosome 17, 42988676: 42988676
13 GFAP NM_002055.4(GFAP): c.234C> A (p.Asp78Glu) single nucleotide variant Pathogenic rs121909720 GRCh37 Chromosome 17, 42992621: 42992621
14 GFAP NM_002055.4(GFAP): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs267607515 GRCh37 Chromosome 17, 42988661: 42988661
15 GFAP NM_002055.4(GFAP): c.1075C> G (p.Leu359Val) single nucleotide variant Pathogenic rs60825166 GRCh37 Chromosome 17, 42988656: 42988656
16 GFAP NM_002055.4(GFAP): c.1076T> C (p.Leu359Pro) single nucleotide variant Pathogenic rs267607511 GRCh37 Chromosome 17, 42988655: 42988655
17 GFAP NM_002055.4(GFAP): c.1079A> T (p.Asp360Val) single nucleotide variant Pathogenic rs62636501 GRCh37 Chromosome 17, 42988652: 42988652
18 GFAP NM_002055.4(GFAP): c.1090G> C (p.Ala364Pro) single nucleotide variant Pathogenic rs58645997 GRCh37 Chromosome 17, 42988641: 42988641
19 GFAP NM_002055.4(GFAP): c.1091C> T (p.Ala364Val) single nucleotide variant Pathogenic rs267607503 GRCh37 Chromosome 17, 42988640: 42988640
20 GFAP NM_002055.4(GFAP): c.1096T> C (p.Tyr366His) single nucleotide variant Pathogenic rs58008462 GRCh37 Chromosome 17, 42988635: 42988635
21 GFAP NM_002055.4(GFAP): c.1097A> G (p.Tyr366Cys) single nucleotide variant Pathogenic rs267607502 GRCh37 Chromosome 17, 42988634: 42988634
22 GFAP NM_002055.4(GFAP): c.1111G> C (p.Glu371Gln) single nucleotide variant Pathogenic rs267607526 GRCh37 Chromosome 17, 42988620: 42988620
23 GFAP NM_002055.4(GFAP): c.1112A> G (p.Glu371Gly) single nucleotide variant Pathogenic rs57815192 GRCh37 Chromosome 17, 42988619: 42988619
24 GFAP NM_002055.4(GFAP): c.1112A> T (p.Glu371Val) single nucleotide variant Pathogenic rs57815192 GRCh37 Chromosome 17, 42988619: 42988619
25 GFAP NM_002055.4(GFAP): c.1117G> A (p.Glu373Lys) single nucleotide variant Pathogenic rs58075601 GRCh37 Chromosome 17, 42988614: 42988614
26 GFAP NM_002055.4(GFAP): c.1117G> C (p.Glu373Gln) single nucleotide variant Pathogenic rs58075601 GRCh37 Chromosome 17, 42988614: 42988614
27 GFAP NM_002055.4(GFAP): c.1121A> G (p.Glu374Gly) single nucleotide variant Pathogenic rs59628143 GRCh37 Chromosome 17, 42988610: 42988610
28 GFAP NM_002055.4(GFAP): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs267607512 GRCh37 Chromosome 17, 42988605: 42988605
29 GFAP NM_002055.4(GFAP): c.1148C> T (p.Thr383Ile) single nucleotide variant Pathogenic rs267607517 GRCh37 Chromosome 17, 42988006: 42988006
30 GFAP NM_002055.4(GFAP): c.1157A> T (p.Asn386Ile) single nucleotide variant Pathogenic rs61726471 GRCh37 Chromosome 17, 42987997: 42987997
31 GFAP NM_002055.4(GFAP): c.1178G> T (p.Ser393Ile) single nucleotide variant Pathogenic rs62635764 GRCh37 Chromosome 17, 42985511: 42985511
32 GFAP NM_002055.4(GFAP): c.1193C> A (p.Ser398Tyr) single nucleotide variant Pathogenic rs267607508 GRCh37 Chromosome 17, 42985496: 42985496
33 GFAP NM_002055.4(GFAP): c.1250A> C (p.Asp417Ala) single nucleotide variant Pathogenic rs267607520 GRCh37 Chromosome 17, 42985439: 42985439
34 GFAP NM_002055.4(GFAP): c.1277A> T (p.Gln426Leu) single nucleotide variant Pathogenic rs267607521 GRCh37 Chromosome 17, 42984737: 42984737
35 GFAP NM_002055.4(GFAP): c.187A> C (p.Lys63Gln) single nucleotide variant Pathogenic rs60095124 GRCh37 Chromosome 17, 42992668: 42992668
36 GFAP NM_002055.4(GFAP): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs60343255 GRCh37 Chromosome 17, 42992647: 42992647
37 GFAP NM_002055.4(GFAP): c.209G> A (p.Arg70Gln) single nucleotide variant Pathogenic rs267607510 GRCh37 Chromosome 17, 42992646: 42992646
38 GFAP NM_002055.4(GFAP): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs267607523 GRCh37 Chromosome 17, 42992641: 42992641
39 GFAP NM_002055.4(GFAP): c.218T> A (p.Met73Lys) single nucleotide variant Pathogenic rs61060395 GRCh37 Chromosome 17, 42992637: 42992637
40 GFAP NM_002055.4(GFAP): c.218T> G (p.Met73Arg) single nucleotide variant Pathogenic rs61060395 GRCh37 Chromosome 17, 42992637: 42992637
41 GFAP NM_002055.4(GFAP): c.221T> C (p.Met74Thr) single nucleotide variant Pathogenic rs267607504 GRCh37 Chromosome 17, 42992634: 42992634
42 GFAP NM_002055.4(GFAP): c.226C> G (p.Leu76Val) single nucleotide variant Pathogenic rs57120761 GRCh37 Chromosome 17, 42992629: 42992629
43 GFAP NM_002055.4(GFAP): c.230A> G (p.Asn77Ser) single nucleotide variant Pathogenic rs57590980 GRCh37 Chromosome 17, 42992625: 42992625
44 GFAP NM_002055.4(GFAP): c.235C> G (p.Arg79Gly) single nucleotide variant Pathogenic rs59793293 GRCh37 Chromosome 17, 42992620: 42992620
45 GFAP NM_002055.4(GFAP): c.236G> C (p.Arg79Pro) single nucleotide variant Pathogenic rs59285727 GRCh37 Chromosome 17, 42992619: 42992619
46 GFAP NM_002055.4(GFAP): c.236G> T (p.Arg79Leu) single nucleotide variant Pathogenic rs59285727 GRCh37 Chromosome 17, 42992619: 42992619
47 GFAP NM_002055.4(GFAP): c.247T> C (p.Tyr83His) single nucleotide variant Pathogenic rs267607506 GRCh37 Chromosome 17, 42992608: 42992608
48 GFAP NM_002055.4(GFAP): c.256_259delAAGGinsGAGT (p.Lys86_Val87delinsGluPhe) indel Pathogenic rs267607501 GRCh37 Chromosome 17, 42992596: 42992599
49 GFAP NM_002055.4(GFAP): c.259G> C (p.Val87Leu) single nucleotide variant Pathogenic rs267607518 GRCh37 Chromosome 17, 42992596: 42992596
50 GFAP NM_002055.4(GFAP): c.260T> G (p.Val87Gly) single nucleotide variant Pathogenic rs60449251 GRCh37 Chromosome 17, 42992595: 42992595

Expression for Alexander Disease

Search GEO for disease gene expression data for Alexander Disease.

Pathways for Alexander Disease

Pathways related to Alexander Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.16 GFAP HDAC6
2
Show member pathways
10.96 HDAC6 HSPB1
3
Show member pathways
10.83 GFAP PLEC SYNM

GO Terms for Alexander Disease

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

id Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.98 CRYAB GFAP HDAC6 HSPB1 HTT PLEC
2 cytosol GO:0005829 9.91 CRYAB GFAP HDAC6 HSPB1 HTT NDUFV1
3 axon GO:0030424 9.5 CRYAB HDAC6 HTT
4 sarcolemma GO:0042383 9.4 PLEC SYNM
5 inclusion body GO:0016234 9.26 HDAC6 HTT
6 costamere GO:0043034 9.16 PLEC SYNM
7 contractile fiber GO:0043292 8.96 HSPB1 PLEC
8 intermediate filament cytoskeleton GO:0045111 8.8 GFAP PLEC SYNM

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

id Name GO ID Score Top Affiliating Genes
1 regulation of autophagy GO:0010506 8.62 HDAC6 HSPB1

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

id Name GO ID Score Top Affiliating Genes
1 ubiquitin binding GO:0043130 9.32 HDAC6 HSPB1
2 cytoskeletal protein binding GO:0008092 9.26 CRYAB PLEC
3 identical protein binding GO:0042802 9.26 CRYAB GFAP HSPB1 HTT
4 structural constituent of muscle GO:0008307 9.16 PLEC SYNM
5 beta-tubulin binding GO:0048487 8.62 HDAC6 HTT

Sources for Alexander Disease

3 CDC
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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