ALX
MCID: ALX003
MIFTS: 74

Alexander Disease (ALX) malady

Neuronal diseases, Eye diseases categories

Summaries for Alexander Disease

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Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Alexander disease is a type of leukodystrophy. it is characterized by the destruction of white matter in the brain 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: 9/21/2011

MalaCards: Alexander Disease, also known as alexander's disease, is related to leukodystrophy and cerebritis, and has symptoms including pigmented naevi/naevus pigmentosus/lentigo, encopresis/fecal incontinence and respiratory distress/dyspnea/respiratory failure/lung volume reduction. An important gene associated with Alexander Disease is GFAP (glial fibrillary acidic protein), and among its related pathways are p38 signaling mediated by MAPKAP kinases and Cytoskeleton remodeling Neurofilaments. The compounds formate and tpck have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and lung, and related mouse phenotypes are skeleton and muscle.

Disease Ontology:8 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:21 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.

NINDS:43 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.

Wikipedia:63 Alexander disease, also known as fibrinoid leukodystrophy, is a slowly progressing and fatal... more...

Description from OMIM:46 203450

GeneReviews summary for alexander

Aliases & Classifications for Alexander Disease

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Characteristics (Orphanet epidemiological data):

48
alexander disease:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

alexander disease 8 9 63 19 42 21 43 46 10 48 60
alexander's disease 8 20 22 21
axd 63 21 48
leukodystrophy with rosenthal fibers 63 21
fibrinoid degeneration of astrocytes 63 21
dysmyelinogenic leukodystrophy 63 21
demyelinogenic leukodystrophy 63 21
alx 63 21
megalencephaly in infancy accompanied by progressive spasticity and dementia 42
alexanders leukodystrophy 42
alexanders disease 44


External Ids:

Disease Ontology8 DOID:4252
NCIt39 C84545
OMIM46 203450
MeSH34 D038261
SNOMED-CT56 81854007
MESH via Orphanet35 D038261
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 81854007
UMLS via Orphanet61 C0270726

Related Diseases for Alexander Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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/GeneDecks gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy30.6CRYAB, GFAP
2cerebritis10.3
3basal ganglia disease10.2
4alexander disease type ii10.2
5alexander disease type i10.2
6microphthalmia10.0
7neuronitis10.0
8cochlear disease10.0
9autosomal dominant disease10.0
10brain disease10.0
11cervicitis10.0
12chromosomal disease10.0
13neuromuscular disease10.0
14paraplegia10.0
15spinal cord disease10.0
16neurologic diseases10.0
17hereditary ataxia10.0
18megalencephalic leukoencephalopathy with subcortical cysts10.0
19pemphigus10.0BLZF1
20hemangioblastoma10.0GFAP
21encephalitis10.0GFAP
22neurilemmoma10.0GFAP
23glomerulonephritis10.0RPS27A
24epidermolysis bullosa10.0PLEC
25spinocerebellar ataxia10.0HTT
26gastrointestinal stromal tumor10.0DES
27glaucoma10.0HSPB1, CRYAB
28adenoma10.0MAPK14
29granular cell tumor10.0DES
30herpes simplex10.0RPS27A, CRYAB
31frontotemporal dementia10.0CRYAB, RPS27A
32hepatitis c10.0MAPK14
33kidney cancer10.0MTOR
34leiomyoma10.0DES
35muscular dystrophy10.0PLEC
36syringoma10.0GFAP
37rhabdomyosarcoma10.0DES
38fanconi's anemia10.0BLZF1, RPS27A
39meningioma10.0GFAP, BLZF1, CRYAB
40creutzfeldt-jakob syndrome10.0CRYAB, HSPB1, RPS27A
41fibrosarcoma10.0HSPB1, DES
42myoepithelioma10.0GFAP
43gastric ulcer10.0HSPB1, MAPK14
44epidermolysis bullosa simplex10.0PLEC, DES
45pick's disease10.0RPS27A, HTT, CRYAB
46spinocerebellar ataxia type 310.0RPS27A, HSPB1, HTT
47myofibrillar myopathy10.0RPS27A, CRYAB, DES
48dentatorubral-pallidoluysian atrophy10.0RPS27A, HTT
49prion disease10.0GFAP, CASP3
50motor neuron disease10.0HTT, HSPB1, RPS27A

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



Diseases related to alexander disease

Clinical Features for Alexander Disease

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

203450

Clinical synopsis from OMIM:

203450

Symptoms:

48 (show all 64)
  • pigmented naevi/naevus pigmentosus/lentigo
  • encopresis/fecal incontinence
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • stenosis of aqueduc of sylvius
  • lordosis
  • short neck
  • high vaulted/narrow palate
  • hypothermia
  • autosomal dominant inheritance
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • elocution disorders/dysarthria/dysphonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • chronic arterial hypertension
  • hypothyroidy
  • early death/lethality
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • muscle weakness/flaccidity
  • auto-aggressivity/auto-mutilation
  • psychic/psychomotor regression/dementia/intellectual decline
  • hypotonia
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • encephalitis
  • dysautonomia/autonomous nervous sytem anomalies
  • hydrocephaly
  • precocious puberty
  • diabetes mellitus
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sleep and vigilance disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hypereflexia
  • hypertonia/spasticity/rigidity/stiffness
  • pyramidal syndrome
  • myoclonus/fasciculations
  • motor deficit/trouble
  • eeg anomalies
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • megalencephaly
  • corpus callosum/septum pellucidum total/partial agenesis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • scoliosis
  • large face
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • facial palsy
  • diplopia/double vision
  • abnormal gait
  • sphincter dysfunction
  • pseudobulbar signs/spasmodic laugh and cry
  • intracranial/cerebral calcifications
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • hypotension
  • chronic hiccup
  • apnea/sleep apnea
  • constipation
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • hyperhidrosis/increased sweating
  • kyphosis
  • ptosis
  • nystagmus
  • abnormal eye movements/oculomotor disorder
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Alexander Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Alexander Disease

Drug clinical trials:

Search ClinicalTrials for Alexander Disease

Search NIH Clinical Center for Alexander Disease

Search CenterWatch for Alexander Disease

Genetic Tests for Alexander Disease

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Alexander Disease:

id Genetic test Affiliating Genes
1 Alexander Disease20 GFAP
2 Alexander's Disease22

Anatomical Context for Alexander Disease

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Sources:
32MalaCards
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MalaCards organs/tissues related to Alexander Disease:

32
Brain, Eye, Lung, Cerebellum, Cortex, Spinal cord, Medulla oblongata

Animal Models for Alexander Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Alexander Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5BLZF1, MTOR, CRYAB, HTT, CASP3
2MP:00053698.2GFAP, PLEC, MAPK14, MAP3K10, CRYAB, CASP3
3MP:00028737.9HSPB1, HTT, MTOR, MAP3K10, MAPK14, PLEC
4MP:00036317.2CASP3, HTT, CRYAB, MTOR, MAP3K10, MAPK14
5MP:00053876.9HSH2D, CASP3, CRYAB, MTOR, MAP3K10, MAPK14
6MP:00107686.7CASP3, HTT, CRYAB, MTOR, DES, MAP3K10

Publications for Alexander Disease

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Sources:
50PubMed
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Articles related to Alexander Disease:

(show top 50)    (show all 165)
idTitleAuthorsYear
1
Alexander disease. (23149175)
2013
2
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. (24045243)
2013
3
Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. (22566711)
2013
4
Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature. (23925719)
2013
5
Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep. (22619055)
2012
6
Archetypal and new families with Alexander disease and novel mutations in GFAP. (21987397)
2012
7
A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging. (23185175)
2012
8
Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation. (22118268)
2012
9
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. (21414908)
2011
10
Focal central white matter lesions in Alexander disease. (21572052)
2011
11
Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease. (21270471)
2011
12
MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. (21132324)
2011
13
The clinical spectrum of late-onset Alexander disease: a systematic literature review. (20721574)
2010
14
A case of sporadic adult Alexander disease presenting with acute onset, remission and relapse. (20562394)
2010
15
Alexander disease with periventricular calcification: a novel mutation of the GFAP gene. (20964669)
2010
16
Adult-onset Alexander disease with typical "tadpole" brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. (20359319)
2010
17
Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. (20448479)
2010
18
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. (21107140)
2010
19
Alexander disease: an important mimicker of focal brainstem glioma. (19927292)
2010
20
Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease. (20139839)
2009
21
Alexander disease: An important mimicker of focal brainstem glioma. (19672978)
2009
22
Alexander disease: early presence of cerebral MRI criteria. (19128991)
2009
23
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. (18197187)
2008
24
Adaptive autophagy in Alexander disease-affected astrocytes. (18414043)
2008
25
Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. (18581469)
2008
26
Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. (18217876)
2008
27
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. (18402384)
2008
28
Adult-onset Alexander disease with progressive ataxia and palatal tremor. (17960815)
2008
29
A novel mutation in the GFAP gene in a familial adult onset Alexander disease. (17703343)
2007
30
Alexander disease with hypothermia, microcoria, and psychiatric and endocrine disturbances. (17438228)
2007
31
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease. (17604020)
2007
32
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. (16168593)
2006
33
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. (17043438)
2006
34
Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease. (17038307)
2006
35
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. (16505300)
2006
36
Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. (17110673)
2006
37
Unusual diagnosis in a child suffering from juvenile Alexander disease: clinical and imaging report. (17156703)
2006
38
A case of long-term survival of a patient with infantile Alexander disease diagnosed by DNA analysis]. (15675360)
2005
39
Alexander disease: past and present. (15549177)
2004
40
Juvenile form of Alexander disease with GFAP mutation and mitochondrial abnormality. (15477559)
2004
41
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. (15030911)
2004
42
Alexander disease: putative mechanisms of an astrocytic encephalopathy. (14770299)
2004
43
Alexander disease. (14623218)
2003
44
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. (12581808)
2003
45
Scoliosis in a patient with Alexander disease. (12131431)
2002
46
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. (12368989)
2002
47
GFAP mutations in Alexander disease. (12175861)
2002
48
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (11138011)
2001
49
Alexander disease: a case report and review of the literature. (9025838)
1996
50
Noninvasive CT diagnosis of infantile Alexander disease: pathologic correlation. (6841718)
1983

Genetic Variations for Alexander Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Alexander Disease:

62 (show all 14)
id Symbol AA change Variation ID SNP ID
1GFAPp.Leu76PheVAR_017465rs57120761
2GFAPp.Asn77TyrVAR_017466rs58732244
3GFAPp.Arg79CysVAR_017467rs59793293
4GFAPp.Arg79HisVAR_017468rs59285727
5GFAPp.Arg88CysVAR_017469rs61622935
6GFAPp.Arg88SerVAR_017470
7GFAPp.Arg239CysVAR_017471rs58064122
8GFAPp.Arg239HisVAR_017472rs59565950
9GFAPp.Ala244ValVAR_017473rs61497286
10GFAPp.Arg258ProVAR_017474rs61726468
11GFAPp.Glu362AspVAR_017475rs28932768
12GFAPp.Arg416TrpVAR_017476
13GFAPp.Asp78GluVAR_017477
14GFAPp.Glu223GlnVAR_017478rs56679084

Expression for genes affiliated with Alexander Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Alexander Disease

Search GEO for disease gene expression data for Alexander Disease.

Pathways for genes affiliated with Alexander Disease

About this section
Sources:
37NCBI BioSystems Database, 12EMD Millipore, 29KEGG, 59Tocris Bioscience, 53Reactome, 51QIAGEN
See all sources

Pathways related to Alexander Disease according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7HSPB1, MAPK14
29.6DES, PLEC, GFAP
39.3CASP3, MTOR, PLEC
49.2HSPB1, CASP3, MAPK14
59.1MAPK14, MTOR, CASP3
6
Development Prolactin receptor signaling
Hide members
9.1CASP3, MTOR, MAPK14
7
Hide members
9.1MAPK14, MTOR, CASP3
8
Hide members
9.1MAPK14, MTOR, CASP3
9
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.1MAPK14, MTOR, CASP3
10
Hide members
8.9CASP3, MAP3K10, MAPK14
11
Hide members
8.8MAPK14, MTOR, CASP3, HSPB1
12
Hide members
8.8MAPK14, MTOR, CASP3, RPS27A
13
Hide members
8.7PLEC, MAPK14, CASP3, HSPB1, RPS27A
14
Hide members
8.5CASP3, MTOR, MAP3K10, MAPK14

Compounds for genes affiliated with Alexander Disease

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 28IUPHAR, 2BitterDB
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Compounds related to Alexander Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1formate449.9GFAP, RPS27A, HTT
2tpck449.8RPS27A, HSPB1, CASP3
3sodium arsenite449.7HSPB1, MAPK14, CRYAB
4dutp449.6GFAP, HSPB1, CASP3
5pd 169316449.6MAPK14, CASP3, HSPB1
6butyrate449.6GFAP, BLZF1, HTT, RPS27A
7arsenite44 2410.5RPS27A, HSPB1, CASP3, MTOR
8minocycline44 1110.5CASP3, HTT, MAPK14
9glucose449.5CRYAB, BLZF1, HTT, GFAP
10silver449.5RPS27A, DES, BLZF1, GFAP
11geldanamycin44 49 59 1112.5RPS27A, HSPB1, HTT, MAPK14
12paraffin449.4GFAP, CRYAB, HSPB1, RPS27A, DES
13bortezomib44 1110.4CASP3, RPS27A, HSPB1, MAPK14
14formaldehyde44 2410.4DES, BLZF1, GFAP, RPS27A
15lactacystin449.3HSPB1, CASP3, MAPK14, RPS27A
16quercetin44 59 11 2412.3CASP3, GFAP, MAPK14, HSPB1
17polyacrylamide449.3BLZF1, GFAP, HSPB1, DES, CRYAB
18cyclosporin a44 28 5911.2RPS27A, BLZF1, MTOR, HSPB1
19adpribose449.2RPS27A, CASP3, DES, MAPK14
20sp 60012544 5910.2MTOR, CASP3, HSPB1, MAPK14
213-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.2MAPK14, CASP3, DES
22glycogen44 2410.2MTOR, GFAP, HTT, DES, RPS27A
23curcumin449.2CASP3, HSPB1, RPS27A, MAPK14
24rotenone449.1CASP3, RPS27A, MAPK14
25sucrose44 11 2411.1BLZF1, CRYAB, HTT, HSPB1
26glutamine449.0BLZF1, HSPB1, CRYAB, GFAP, HTT, RPS27A
27retinoid449.0HSPB1, HTT, RPS27A, BLZF1, MAPK14
28pd 98,059448.9MTOR, GFAP, MAPK14, HSPB1, CASP3
29mg 13244 599.9BLZF1, HSPB1, RPS27A, MAPK14, CASP3
30iron44 249.9GFAP, DES, HTT, BLZF1, NDUFV1
31imatinib44 49 1110.9MTOR, RPS27A, DES, MAPK14, CASP3
32glyceraldehyde 3-phosphate448.8GFAP, HTT, HSPB1, BLZF1
33lysine448.7DES, CRYAB, HTT, RPS27A, BLZF1
34lactate448.7RPS27A, DES, BLZF1, HTT, CASP3, GFAP
35testosterone44 59 11 2411.7BLZF1, HTT, RPS27A, MTOR, DES, GFAP
36arginine448.7RPS27A, BLZF1, DES, MTOR, GFAP, HSPB1
37rapamycin448.7CASP3, HTT, MTOR, MAPK14, RPS27A, HSPB1
38doxorubicin44 49 1110.6MTOR, CASP3, RPS27A, HSPB1, MAPK14, DES
39genistein44 28 59 2 11 2413.5HSPB1, CASP3, MTOR, MAPK14, BLZF1, GFAP
40cysteine448.4DES, CASP3, GFAP, HSPB1, RPS27A, HTT
41vegf448.4GFAP, DES, MTOR, RPS27A, HSPB1, CASP3
42superoxide44 249.3MAPK14, CRYAB, GFAP, HTT, CASP3, HSPB1
43actinomycin d448.3MAPK14, DES, CRYAB, CASP3, HSPB1, RPS27A
44h2o2448.3MAPK14, CRYAB, BLZF1, CASP3, DES, RPS27A
45cisplatin44 49 59 1111.3RPS27A, HSPB1, CASP3, MTOR, MAPK14, GFAP
46tyrosine447.9HTT, MTOR, BLZF1, MAPK14, RPS27A, DES
47oxygen44 248.8BLZF1, HSPB1, CASP3, HTT, MTOR, MAPK14
48threonine447.7MTOR, DES, MAP3K10, GFAP, BLZF1, RPS27A
49retinoic acid44 248.5CASP3, RPS27A, HSPB1, HTT, MTOR, DES
50serine446.9CASP3, HTT, MTOR, RPS27A, MAPK14, BLZF1

GO Terms for genes affiliated with Alexander Disease

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Sources:
16Gene Ontology
See all sources

Cellular components related to Alexander Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.6GFAP, DES, BFSP2
2Z discGO:0300189.3HSPB1, CRYAB, DES
3cytosolGO:0058297.0HTT, CASP3, HSPB1, RPS27A, CRYAB, MTOR
4cytoplasmGO:0057375.4GFAP, HSPB1, HSH2D, BFSP2, CASP3, HTT

Biological processes related to Alexander Disease according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cellular response to vascular endothelial growth factor stimulusGO:0359249.7MAPK14, HSPB1
2positive regulation of myotube differentiationGO:0108319.6MAPK14, MTOR
3stress-activated MAPK cascadeGO:0514039.6MAPK14, CRYAB, RPS27A
4positive regulation of blood vessel endothelial cell migrationGO:0435369.4MAPK14, HSPB1
5peptidyl-serine phosphorylationGO:0181059.0MTOR, MAP3K10, MAPK14
6neurotrophin TRK receptor signaling pathwayGO:0480118.8RPS27A, CASP3, MTOR, MAPK14
7apoptotic processGO:0069158.2RPS27A, CASP3, MAP3K10, MAPK14, PLEC

Molecular functions related to Alexander Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of eye lensGO:0052129.9CRYAB, BFSP2
2structural constituent of cytoskeletonGO:0052009.3GFAP, DES, BFSP2

Products for genes affiliated with Alexander Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alexander Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet