MCID: ALX003
MIFTS: 65

Alexander Disease

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

Aliases & Classifications for Alexander Disease

MalaCards integrated aliases for Alexander Disease:

Name: Alexander Disease 54 12 72 23 50 24 25 51 56 71 13 42 14 69
Alexander's Disease 12 25 71 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
Alexander Disease Type Ii 56
Alexander Disease Type I 56
Alexanders Disease 52
Axd Type Ii 56
Axd Type I 56
Alxdrd 71
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;
alexander disease type ii
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: adult;
alexander disease type i
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
alexander disease:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


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:



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 leukodystrophy and hyperekplexia, hereditary 1, autosomal dominant or recessive, and has symptoms including failure to thrive, scoliosis and nystagmus. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and ATM Signaling Network in Development and Disease. The drugs Iron and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and breast, and related phenotypes are behavior/neurological and cellular

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.

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.

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

OMIM : 54
In decreasing order of frequency, 3 forms of Alexander disease 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)

UniProtKB/Swiss-Prot : 71 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.

Wikipedia : 72 Alexander disease, also known as fibrinoid leukodystrophy, is a progressive and fatal neurodegenerative... more...

GeneReviews: NBK1172

Related Diseases for Alexander Disease

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



Diseases related to Alexander Disease

Symptoms & Phenotypes for Alexander Disease

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
spasticity
seizures
hydrocephalus
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

Human phenotypes related to Alexander Disease:

56 32 (show top 50) (show all 65)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
4 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
5 chorea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002072
6 dysarthria 56 32 frequent (33%) Frequent (79-30%) HP:0001260
7 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
8 tremor 56 32 frequent (33%) Frequent (79-30%) HP:0001337
9 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
10 diplopia 56 32 frequent (33%) Frequent (79-30%) HP:0000651
11 seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0001250
12 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
13 emotional lability 56 32 frequent (33%) Frequent (79-30%) HP:0000712
14 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
15 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
16 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
17 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
18 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
19 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
20 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
21 clonus 56 32 hallmark (90%) Very frequent (99-80%) HP:0002169
22 encephalitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002383
23 tetraplegia 56 32 frequent (33%) Frequent (79-30%) HP:0002445
24 agenesis of corpus callosum 56 32 hallmark (90%) Very frequent (99-80%) HP:0001274
25 osteopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000938
26 constipation 56 32 frequent (33%) Frequent (79-30%) HP:0002019
27 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
28 dysphasia 56 32 frequent (33%) Frequent (79-30%) HP:0002357
29 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
30 aqueductal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002410
31 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
32 self-injurious behavior 56 32 occasional (7.5%) Occasional (29-5%) HP:0100716
33 diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000819
34 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
35 hyperlordosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003307
36 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
37 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
38 hypothermia 56 32 frequent (33%) Frequent (79-30%) HP:0002045
39 dysphonia 56 32 frequent (33%) Frequent (79-30%) HP:0001618
40 developmental regression 56 32 occasional (7.5%) Occasional (29-5%) HP:0002376
41 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
42 hypotension 56 32 frequent (33%) Frequent (79-30%) HP:0002615
43 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
44 megalencephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001355
45 sleep apnea 56 32 frequent (33%) Frequent (79-30%) HP:0010535
46 precocious puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000826
47 facial palsy 56 32 frequent (33%) Frequent (79-30%) HP:0010628
48 dysautonomia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002459
49 cerebral calcification 56 32 frequent (33%) Frequent (79-30%) HP:0002514
50 large face 56 32 hallmark (90%) Very frequent (99-80%) HP:0100729

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 9.73 CRYAB GFAP HTT MTOR PLEC SYNM
2 cellular MP:0005384 9.63 HTT MTOR PLEC CRYAB GFAP HSPB1
3 muscle MP:0005369 9.35 CRYAB GFAP MTOR PLEC SYNM
4 normal MP:0002873 9.02 GFAP HSPB1 HTT MTOR PLEC

Drugs & Therapeutics for Alexander Disease

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

(show top 50) (show all 595)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 1 7439-89-6 23925
2
Prednisone Approved, Vet_approved Phase 4,Phase 3 53-03-2 5865
3
Benzocaine Approved Phase 4,Phase 3,Phase 2 1994-09-7, 94-09-7 2337
4
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
5
Levodopa Approved Phase 4,Phase 2 59-92-7 6047
6 Piracetam Approved Phase 4 7491-74-9
7
Allopurinol Approved Phase 4,Phase 1 315-30-0 2094
8
Norepinephrine Approved Phase 4,Phase 3,Early Phase 1 51-41-2 439260
9
Cabergoline Approved Phase 4 81409-90-7 54746
10
Rasagiline Approved Phase 4 136236-51-6 3052776
11
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
12
Baclofen Approved Phase 4 1134-47-0 2284
13
Ethanol Approved Phase 4,Phase 3 64-17-5 702
14
Aspirin Approved, Vet_approved Phase 4,Phase 3 50-78-2 2244
15
Ticagrelor Approved Phase 4,Phase 3 274693-27-5 9871419
16
Heparin Approved, Investigational Phase 4,Phase 3 9005-49-6 772 46507594
17
Ranibizumab Approved Phase 4,Phase 3 347396-82-1 459903
18
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 3 16590-41-3 5360515
19
Acetaminophen Approved Phase 4 103-90-2 1983
20
Ibuprofen Approved Phase 4 15687-27-1 3672
21
Cangrelor Approved Phase 4 163706-06-7 9854012
22
Morphine Approved, Investigational Phase 4 57-27-2 5288826
23
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
24
Oxymorphone Approved, Investigational, Vet_approved Phase 4 76-41-5 5284604
25
Gabapentin Approved, Investigational Phase 4,Phase 1 60142-96-3 3446
26
Metformin Approved Phase 4,Phase 2,Phase 3 657-24-9 14219 4091
27
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
28
Hydrocodone Approved, Illicit Phase 4 125-29-1 5284569
29
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
30 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 2
31
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
32
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
33
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
34
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
35 Nutmeg Approved, Nutraceutical Phase 4
36 Etiracetam Investigational Phase 4 33996-58-6
37
gamma-Aminobutyric acid Investigational Phase 4,Phase 1 56-12-2 119
38 Ferric Compounds Phase 4
39 Hematinics Phase 4,Phase 3,Phase 2
40 Micronutrients Phase 4,Phase 3,Phase 2
41 Teferrol Phase 4
42 Trace Elements Phase 4,Phase 3,Phase 2
43 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2,Phase 1
45 glucocorticoids Phase 4,Phase 3,Phase 2,Phase 1
46 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
47 Hormones Phase 4,Phase 3,Phase 2,Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
49 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 593)

id Name Status NCT ID Phase Drugs
1 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
2 Surgical Treatment of Ischemic Mitral Regurgitation Unknown status NCT01368575 Phase 4
3 Different Iron Supplements for Prevention of Anemia in Pregnancy Unknown status NCT02487719 Phase 4 Iron sulfate and Iron polymaltose for prevention of iron deficiency anemia
4 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
5 Inflammatory, Functional and Image Composite Measure to Define Asthma Control Unknown status NCT00597064 Phase 4 prednisone
6 Efficacy and Safety of Levetiracetam Versus Placebo on Levodopa-induced Dyskinesias in Advanced Parkinson's Disease Completed NCT00307450 Phase 4 Levetiracetam
7 Allopurinol Maintenance Study for Bipolar Disorder Completed NCT00732251 Phase 4 Allopurinol
8 Lisdexamfetamine Dimesylate in Residual Symptoms and Cognitive Impairment in Major Depressive Disorder. Completed NCT01148979 Phase 4 Lisdexamfetamine Dimesylate (Vyvanse);Placebo
9 Dopamine Turnover Rate as Surrogate Parameter for Diagnosis of Early Parkinson's Disease Completed NCT00153972 Phase 4 Cabergoline;Levodopa
10 Effects of Rasagiline on Sleep Disturbances in Parkinson's Disease Completed NCT01442610 Phase 4 Rasagiline;Placebo
11 A Pilot Study of Cranial Electrotherapy Stimulation[CES] for Generalized Anxiety Disorder Completed NCT00539357 Phase 4
12 Allopurinol Add-on Treatment for Refractory Mania Completed NCT00643123 Phase 4 Allopurinol;Placebo
13 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 Quetiapine Fumarate (Seroquel®)
14 Navigation Repetitive Transcranial Magnetic Stimulation in Stroke Rehabilitation Completed NCT01652677 Phase 4
15 Study to Evaluate Initiation of Stalevo in Early Wearing-off Completed NCT00462007 Phase 4 Stalevo
16 A Study of Quetiapine Fumarate Sustained Release in Major Depression With Comorbid Fibromyalgia Syndrome Completed NCT00675896 Phase 4 Quetiapine Fumarate Sustained Release;Placebo
17 Paricalcitol Versus Calcitriol for the Management of Renocardiac Syndrome in Renal Transplant Patients Completed NCT01265615 Phase 4 Paricalcitol;Calcitriol;Cholecalciferol
18 First Line Pazopanib in Poor Risk Patients With Metastatic Renal Cell Carcinoma Completed NCT01521715 Phase 4 Pazopanib
19 Baclofen as Add-On to Standard Treatment of Alcohol- Dependent Patients Completed NCT01002105 Phase 4 Baclofen
20 Biventricular Tachycardias Outcome Trial Completed NCT00729235 Phase 4
21 Ticagrelor Antiplatelet Therapy to Reduce Graft Events and Thrombosis Recruiting NCT02053909 Phase 4 Aspirin;Ticagrelor
22 The Effect of Ibuprofen on Post-partum Blood Pressure in Women With Hypertensive Disorders of Pregnancy Recruiting NCT02891174 Phase 4 Ibuprofen;Acetaminophen
23 Clinical and Immunological Efficiency of Bacterial Vaccines at Adult Patients With Bronchopulmonary Pathology Recruiting NCT02787863 Phase 4 Polioxidonium
24 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 Vemurafenib
25 Investigating Different Anticoagulants for Renal Replacement Therapy Recruiting NCT02669589 Phase 4 Heparin;Citrate
26 Add-on Cangrelor in STEMI-triggered Cardiac Arrest Recruiting NCT03273075 Phase 4 Cangrelor;Placebo;Prasugrel;Ticagrelor
27 Structured Discontinuation vs Continued Therapy in Suboptimal and Optimal Responders to High-dose Long-term Opioids for Chronic Pain Recruiting NCT02741076 Phase 4 Morphine Sulfate ER;Oxycodone ER;Oxymorphone ER
28 Clinical Trial of Efficacy and Safety of Ergoferon in the Treatment of Acute Respiratory Viral Infections in Children Recruiting NCT03039621 Phase 4 Ergoferon;Placebo
29 An Extension Study to Evaluate the Efficacy and Safety of HORIZANT in Adolescents With Moderate-to-Severe Primary RLS Recruiting NCT02633683 Phase 4 HORIZANT 600 mg
30 An Efficacy and Safety Evaluation of HORIZANT in Adolescents With Moderate-to-Severe Primary RLS Recruiting NCT02560766 Phase 4 HORIZANT 300 mg;HORIZANT 600 mg;Placebo
31 A Study to Evaluate the Effect of Long-term Treatment With BELVIQ (Lorcaserin HCl) on the Incidence of Major Adverse Cardiovascular Events and Conversion to Type 2 Diabetes Mellitus in Obese and Overweight Subjects With Cardiovascular Disease or Multiple Active, not recruiting NCT02019264 Phase 4 APD356-Lorcaserin hydrochloride;Placebo
32 Impact of Early Parenteral Nutrition Completing Enteral Nutrition in Adult Critically Ill Patients Active, not recruiting NCT00512122 Phase 4 Oliclinomel N71000 OR N71000E // Clinimix N17G35 OR N17G35E
33 Post-operative Analgesia in Elective, Soft-tissue Hand Surgery Enrolling by invitation NCT02029235 Phase 4 Acetaminophen/Hydrocodone;Acetaminophen/Ibuprofen
34 A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT Not yet recruiting NCT03176849 Phase 4
35 Effect of SGLT-2 Inhibitor Dapagliflozin on Glycemic Variability in Patients With Diabetes Mellitus Type 2 Not yet recruiting NCT02719756 Phase 4 Metformin;Dapagliflozin;Metformin up-titration
36 Ranibizumab and the Risk of Arterial Thromboembolic Events Terminated NCT01319188 Phase 4 0.5 mg of ranibizumab
37 Naltrexone/Bupropion Cardiovascular Outcomes Study Terminated NCT02638129 Phase 4 Naltrexone HCl/Bupropion HCl ER;Placebo
38 The INFECIR-2 Albumin Prevention Study Terminated NCT02034279 Phase 4 Albumin
39 Mesh Ablator Versus Cryoballoon Pulmonary Vein Ablation of Symptomatic Paroxysmal Atrial Fibrillation Terminated NCT01061931 Phase 4
40 Effects of Paliperidone in Posttraumatic Stress Disorder (PTSD) Withdrawn NCT00766064 Phase 4 Paliperidone
41 A Study for Small Cell Lung Cancer (SCLC) in Extensive Disease Stage Unknown status NCT00168896 Phase 2, Phase 3 Carboplatin plus Irinotecan vs Carboplatin plus Etoposide
42 Standard Therapy With or Without Surgery and Mitomycin C in Treating Patients With Advanced Limited Peritoneal Dissemination of Colon Cancer Unknown status NCT01167725 Phase 3 FOLFIRI regimen;FOLFOX regimen;capecitabine;fluorouracil;irinotecan hydrochloride;leucovorin calcium;mitomycin C;oxaliplatin
43 Combination Chemotherapy After Surgery in Treating Patients With High-Risk Stage II or Stage III Colorectal Cancer Unknown status NCT00749450 Phase 3 capecitabine;fluorouracil;oxaliplatin
44 Vaccine Therapy in Treating Patients With Primary Stage II Melanoma Unknown status NCT00005052 Phase 3
45 Mechanisms of Panic Disorders Treatment Unknown status NCT01323556 Phase 2, Phase 3
46 Study to Determine if Shock Wave Therapy Applied to Traumatic Wounds of the Extremity Improves Healing Time Unknown status NCT00486733 Phase 3
47 Study of Picoplatin Efficacy After Relapse Unknown status NCT00465491 Phase 3 picoplatin
48 Supplemental Corticosteroids in Cirrhotic Hypotensive Patients With Suspicion of Sepsis Unknown status NCT02602210 Phase 3 Hydrocortisone;NaCL 0.9%
49 Memantine Treatment for Obsessive-compulsive Disorder and Generalized Anxiety Disorder Completed NCT00674219 Phase 3 Namenda (Memantine)
50 Safety and Efficacy Study of PB127 Ultrasound Contrast Agent in Patients With Suspected Coronary Artery Disease Completed NCT00595244 Phase 3 PB127 for injectable suspension

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, Lung, Breast, Heart, Liver, Kidney, Spinal Cord

Publications for Alexander Disease

Articles related to Alexander Disease:

(show top 50) (show all 212)
id Title Authors Year
1
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease. ( 28459923 )
2017
2
Central hypothermia associated with Alexander disease. A case report. ( 28384596 )
2017
3
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model. ( 28882119 )
2017
4
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. ( 28359321 )
2017
5
Infantile Alexander Disease: Case Report and Review of Literature. ( 28764307 )
2017
6
Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom. ( 28681773 )
2017
7
Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease. ( 28223355 )
2017
8
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease-Reply. ( 28459933 )
2017
9
Myelin changes in Alexander disease. ( 28342553 )
2017
10
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease. ( 28690862 )
2017
11
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease. ( 28448978 )
2017
12
Alexander Disease. ( 28112050 )
2017
13
Disorders of Astrocytes: Alexander Disease as a Model. ( 28135564 )
2017
14
Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes. ( 28634469 )
2017
15
MRI diagnosis of infantile Alexander disease in a 14 month old African boy. ( 28580052 )
2016
16
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. ( 27402089 )
2016
17
Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease. ( 27298457 )
2016
18
Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases. ( 28360791 )
2016
19
Atypical MRI features in familial adult onset Alexander disease: case report. ( 27814755 )
2016
20
Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. ( 26719496 )
2016
21
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. ( 27648269 )
2016
22
Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. ( 27442695 )
2016
23
The Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease. ( 27193225 )
2016
24
A novel GFAP mutation in a type II (late-onset) Alexander disease patient. ( 26914930 )
2016
25
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. ( 26743065 )
2016
26
Mapping of protein-protein interaction network of Alexander disease. ( 27262796 )
2016
27
Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. ( 25985984 )
2015
28
Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease. ( 26378915 )
2015
29
Nitric oxide mediates glial-induced neurodegeneration in Alexander disease. ( 26608817 )
2015
30
Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene. ( 25997626 )
2015
31
An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene. ( 25828773 )
2015
32
CSF and Blood Levels of GFAP in Alexander Disease(1,2,3). ( 26478912 )
2015
33
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. ( 26486469 )
2015
34
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene. ( 26396075 )
2015
35
Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation. ( 25982497 )
2015
36
Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease. ( 26285664 )
2015
37
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. ( 26208460 )
2015
38
Elevated GFAP induces astrocyte dysfunction in caudal brain regions: A potential mechanism for hindbrain involved symptoms in type II Alexander disease. ( 26190408 )
2015
39
Astrocyte pathology in Alexander disease causes a marked inflammatory environment. ( 26296699 )
2015
40
Neuroimaging and clinical features in type II (late-onset) Alexander disease. ( 24306001 )
2014
41
Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease. ( 23594359 )
2014
42
Astrocytic TDP-43 pathology in Alexander disease. ( 24806671 )
2014
43
Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. ( 24742911 )
2014
44
Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease. ( 24755947 )
2014
45
Adult-onset Alexander disease: could facial myokymia be a symptom? ( 25410460 )
2014
46
Teaching neuroImages: late-onset Alexander disease. ( 25422405 )
2014
47
Infantile onset alexander disease with normal head circumference: a genetically proven case report. ( 25584279 )
2014
48
Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease. ( 25069089 )
2014
49
A new mutation in GFAP widens the spectrum of Alexander disease. ( 24961628 )
2014
50
A young child with seizures and mild developmental delay. Diagnosis: Alexander disease. ( 23718245 )
2013

Variations for Alexander Disease

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

71 (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
Show member pathways
10.83 GFAP PLEC SYNM
2 10.82 HSPB1 MTOR
3 10.51 MTOR NDUFV1

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 cytosol GO:0005829 9.8 CRYAB GFAP HSPB1 HTT MTOR NDUFV1
2 sarcolemma GO:0042383 9.32 PLEC SYNM
3 costamere GO:0043034 9.16 PLEC SYNM
4 intermediate filament cytoskeleton GO:0045111 9.13 GFAP PLEC SYNM
5 contractile fiber GO:0043292 8.62 HSPB1 PLEC

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

id Name GO ID Score Top Affiliating Genes
1 regulation of cellular response to heat GO:1900034 9.16 CRYAB MTOR
2 regulation of protein phosphorylation GO:0001932 8.96 HSPB1 MTOR
3 positive regulation of glial cell proliferation GO:0060252 8.32 MTOR

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

id Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.16 CRYAB PLEC
2 kinase binding GO:0019900 8.96 HTT
3 structural constituent of muscle GO:0008307 8.96 PLEC SYNM
4 identical protein binding GO:0042802 8.92 CRYAB GFAP HSPB1 HTT

Sources for Alexander Disease

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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