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 cerebellum, 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

About this section
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
  • 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
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • 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
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • abnormal gait
  • 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
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • scoliosis
  • large face
  • corpus callosum/septum pellucidum total/partial agenesis
  • short neck
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • facial palsy
  • 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
  • diplopia/double vision
  • 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, Cerebellum, Lung, Cortex, Spinal cord, Medulla oblongata

Animal Models for Alexander Disease or affiliated genes

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Sources:
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
Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement. (23743246)
2013
2
Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. (23272901)
2013
3
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (23364391)
2013
4
Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran. (24427505)
2013
5
Adult onset Alexander disease presenting with progressive spastic paraplegia. (24188966)
2013
6
Phenotypic conversions of "protoplasmic" to "reactive" astrocytes in Alexander disease. (23616550)
2013
7
Deficits in adult neurogenesis, contextual fear conditioning, and spatial learning in a Gfap mutant mouse model of Alexander disease. (24259590)
2013
8
An unusual presentation of juvenile Alexander disease. (21940697)
2012
9
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease. (22705585)
2012
10
Late-onset Alexander disease with a V87L mutation in glial fibrillary acidic protein (GFAP) and calcifying lesions in the sub-cortex and cortex. (21822933)
2012
11
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease. (22488673)
2012
12
Infantile Alexander disease: A rare leukodystrophy. (23248690)
2012
13
Alexander disease. (22496548)
2012
14
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. (21041050)
2011
15
The ocular motor features of adult-onset alexander disease: a case and review of the literature. (21403579)
2011
16
Alexander disease causing mutations in the C-terminal domain of GFAP are deleterious both to assembly and network formation with the potential to both activate caspase 3 and decrease cell viability. (21756903)
2011
17
GFAP mutations, age at onset, and clinical subtypes in Alexander disease. (21917775)
2011
18
Sleep apnea associated with floppy epiglottis in adult-onset Alexander disease: a case report. (20535827)
2010
19
Oligomers of mutant glial fibrillary acidic protein (GFAP) Inhibit the proteasome system in alexander disease astrocytes, and the small heat shock protein alphaB-crystallin reverses the inhibition. (20110364)
2010
20
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. (19484233)
2009
21
A rare cause of neuromuscular scoliosis: Alexander disease. (19084454)
2009
22
An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant. (19444543)
2009
23
Tumor-like enlargement of the optic chiasm in an infant with Alexander disease. (18584981)
2009
24
Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. (18054694)
2008
25
Can MR imaging diagnose adult-onset Alexander disease? (18388212)
2008
26
Magnetic resonance imaging findings in Alexander disease. (18410858)
2008
27
Clinical and genetic study in Chinese patients with Alexander disease. (18079314)
2008
28
Neonatal Alexander disease: MR imaging prenatal diagnosis. (18653683)
2008
29
Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways. (18276609)
2008
30
Adult-onset Alexander disease : report on a family. (18004641)
2008
31
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. (17805552)
2007
32
GFAP and its role in Alexander disease. (17498694)
2007
33
Alexander disease: not just a leukodystrophy anymore. (16505295)
2006
34
TRH therapy in a patient with juvenile Alexander disease. (16774812)
2006
35
Alexander disease-associated glial fibrillary acidic protein mutations in mice induce Rosenthal fiber formation and a white matter stress response. (17065456)
2006
36
Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. (15696488)
2005
37
Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotype. (15732119)
2005
38
Early cerebral images of Alexander disease: report of one case. (15264709)
2004
39
Alexander disease: a leukodystrophy caused by a mutation in GFAP. (15139294)
2004
40
A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. (14550921)
2003
41
A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? (12944715)
2003
42
Alexander disease: a review and the gene. (12175878)
2002
43
Mutations associated with a childhood leukodystrophy, Alexander disease, cause deficiency in dimerization of the cytoskeletal protein GFAP. (12696672)
2002
44
Alexander disease: new insights from genetics. (11398833)
2001
45
A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. (11595337)
2001
46
Positron emission tomography in juvenile Alexander disease. (10450795)
1999
47
Neuro-ophthalmic, radiographic, and pathologic manifestations of adult-onset Alexander disease. (10037578)
1999
48
Alexander Disease (20301351)
1993
49
Chromosome 11q23.3-qter deletion and Alexander disease. (2063930)
1991
50
Infantile Alexander disease: MR appearance of a biopsy-proved case. (2124037)
1990

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