ALX
MCID: ALX003
MIFTS: 64

Alexander Disease (ALX) malady

Neuronal, Eye, Liver categories

Summaries for Alexander Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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NIH Rare Diseases:43 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 alagille syndrome and brain disease, and has symptoms including frontal bossing/prominent forehead, short neck and corpus callosum/septum pellucidum total/partial agenesis. 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 spinal cord, brain and cortex, 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.

NINDS:44 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.

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.

Wikipedia:64 Alexander disease, also known as fibrinoid leukodystrophy, is a slowly progressing and fatal... more...

Description from OMIM:47 203450

GeneReviews summary for alexander

Aliases & Classifications for Alexander Disease

Sources:
19GeneReviews, 8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 20GeneTests, 22GTR, 45Novoseek, 40NCIt, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
alexander disease:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

alexander disease 8 9 64 19 43 21 44 47 10 49 61
alexander's disease 8 20 22 21
axd 64 21 49
fibrinoid degeneration of astrocytes 64 21
leukodystrophy with rosenthal fibers 64 21
dysmyelinogenic leukodystrophy 64 21
demyelinogenic leukodystrophy 64 21
alx 64 21
megalencephaly in infancy accompanied by progressive spasticity and dementia 43
syndromic bile duct paucity 19
alexanders leukodystrophy 43
arteriohepatic dysplasia 19
alexanders disease 45


External Ids:

Disease Ontology8 DOID:4252
NCIt40 C84545
OMIM47 203450
MeSH35 D038261
SNOMED-CT57 81854007
MESH via Orphanet36 D038261
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 81854007
UMLS via Orphanet62 C0270726

Related Diseases for Alexander Disease

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 94)
idRelated DiseaseScoreTop Affiliating Genes
1alagille syndrome10.8
2brain disease10.5
3brain glioma10.3
4ataxia10.3
5basal ganglia disease10.2
6alexander disease type ii10.2
7alexander disease type i10.2
8biliary hypoplasia10.1
9watson syndrome10.1
10keratoderma10.1
11alagille syndrome 210.1
12renal dysplasia10.1
13renal hypoplasia10.1
14anal spasm10.0
15cochlear disease10.0
16protein c deficiency10.0
17autosomal dominant disease10.0
18spinal cord disease10.0
19hereditary ataxia10.0
20chromosome 11q deletion10.0
21autonomic dysfunction10.0
22myoclonus10.0
23sleep apnea10.0
24tremor10.0
25microphthalmia10.0
26frontonasal dysplasia10.0
27pemphigus10.0BLZF1
28hemangioblastoma10.0GFAP
29encephalitis10.0GFAP
30neurilemmoma10.0GFAP
31glomerulonephritis10.0RPS27A
32epidermolysis bullosa10.0PLEC
33spinocerebellar ataxia10.0HTT
34gastrointestinal stromal tumor10.0DES
35glaucoma10.0HSPB1, CRYAB
36adenoma10.0MAPK14
37granular cell tumor10.0DES
38leukodystrophy10.0CRYAB, GFAP
39herpes simplex10.0RPS27A, CRYAB
40frontotemporal dementia10.0CRYAB, RPS27A
41hepatitis c10.0MAPK14
42kidney cancer10.0MTOR
43myoepithelioma10.0GFAP
44leiomyoma10.0DES
45muscular dystrophy10.0PLEC
46rhabdomyosarcoma10.0DES
47fanconi's anemia10.0BLZF1, RPS27A
48meningioma10.0GFAP, BLZF1, CRYAB
49creutzfeldt-jakob syndrome10.0RPS27A, HSPB1, CRYAB
50fibrosarcoma10.0HSPB1, DES

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



Diseases related to alexander disease

Clinical Features for Alexander Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

203450

Clinical synopsis from OMIM:

203450

Symptoms:

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

Drugs & Therapeutics for Alexander Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Alexander Disease:

33
Spinal cord, Brain, Cortex, B cells, Medulla oblongata

Animal Models for Alexander Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Alexander Disease

Sources:
51PubMed
See all sources

Articles related to Alexander Disease:

(show top 50)    (show all 178)
idTitleAuthorsYear
1
Neuroimaging and clinical features in type II (late-onset) Alexander disease. (24306001)
2014
2
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
3
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant. (23634874)
2013
4
Alexander disease with mild dorsal brainstem atrophy and infantile spasms. (22818990)
2013
5
Infantile-onset Alexander disease: a genetically proven case with mild clinical course in a 6-year-old Indian boy. (22566711)
2013
6
Autonomic dysfunction in adult-onset alexander disease: a case report and review of the literature. (23925719)
2013
7
Magnetic resonance imaging "tigroid pattern" in Alexander disease. (23254569)
2013
8
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy. (22198646)
2012
9
Adult-onset Alexander disease with an R66Q mutation in GFAP presented with severe vocal cord paralysis during sleep. (22619055)
2012
10
A case of adult-onset alexander disease featuring severe atrophy of the medulla oblongata and upper cervical cord on magnetic resonance imaging. (23185175)
2012
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
Strategies for treatment in Alexander disease. (20880512)
2010
14
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
15
Correspondence regarding: Alexander disease mutant glial fibrillary acidic protein compromises glutamate transport in astrocytes. (21107140)
2010
16
Alexander disease: an important mimicker of focal brainstem glioma. (19927292)
2010
17
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. (19484233)
2009
18
Review of Alexander disease: beyond the classical concept of leukodystrophy. (19386454)
2009
19
Alexander disease: An important mimicker of focal brainstem glioma. (19672978)
2009
20
GFAP aggregates in the cochlear nerve increase the noise vulnerability of sensory cells in the organ of Corti in the murine model of Alexander disease. (18602179)
2008
21
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. (18684770)
2008
22
Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs. (18581469)
2008
23
Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. (18217876)
2008
24
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. (18402384)
2008
25
Murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance. (17299771)
2007
26
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (17894839)
2007
27
Acute onset of fatal vegetative symptoms: unusual presentation of adult Alexander disease. (17956445)
2007
28
A novel mutation in the GFAP gene in a familial adult onset Alexander disease. (17703343)
2007
29
Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. (17985264)
2007
30
Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease. (17604020)
2007
31
Rosenthal fiber encephalopathy in a dog resembling Alexander disease in humans. (17099166)
2006
32
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord. (16505300)
2006
33
Discrepancy between neuroimaging findings and clinical phenotype in Alexander disease. (17110673)
2006
34
Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. (15696488)
2005
35
Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. (16217707)
2005
36
Early cerebral images of Alexander disease: report of one case. (15264709)
2004
37
Alexander disease: a leukodystrophy caused by a mutation in GFAP. (15139294)
2004
38
A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P. (15030911)
2004
39
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. (12638020)
2003
40
Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. (12975300)
2003
41
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. (12581808)
2003
42
MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease. (12427522)
2002
43
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. (12034796)
2002
44
Alexander disease: diagnosis with MR imaging. (11237983)
2001
45
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis. (11587071)
2001
46
Advanced glycation modification of Rosenthal fibers in patients with Alexander disease. (9291145)
1997
47
Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. (1407707)
1992
48
Phosphorylation of alpha-crystallin B in Alexander's disease brain. (1743282)
1991
49
Infantile Alexander disease: MR appearance of a biopsy-proved case. (2124037)
1990
50
Alexander disease: clinical, electrodiagnostic and radiographic studies. (7254481)
1981

Genetic Variations for Alexander Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Alexander Disease:

63 (show all 14)
id Symbol AA change Variation 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

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

Sources:
38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 60Tocris Bioscience, 54Reactome, 52QIAGEN
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

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Alexander Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 95)
idCompoundScoreTop Affiliating Genes
1formate459.9GFAP, RPS27A, HTT
2tpck459.8RPS27A, HSPB1, CASP3
3sodium arsenite459.7HSPB1, MAPK14, CRYAB
4dutp459.6GFAP, HSPB1, CASP3
5pd 169316459.6MAPK14, CASP3, HSPB1
6butyrate459.6GFAP, BLZF1, HTT, RPS27A
7arsenite45 2410.5RPS27A, HSPB1, CASP3, MTOR
8minocycline45 1110.5CASP3, HTT, MAPK14
9glucose459.5CRYAB, BLZF1, HTT, GFAP
10silver459.5RPS27A, DES, BLZF1, GFAP
11geldanamycin45 50 60 1112.5RPS27A, HSPB1, HTT, MAPK14
12paraffin459.4GFAP, CRYAB, HSPB1, RPS27A, DES
13bortezomib45 1110.4CASP3, RPS27A, HSPB1, MAPK14
14formaldehyde45 2410.4DES, BLZF1, GFAP, RPS27A
15lactacystin459.3HSPB1, CASP3, MAPK14, RPS27A
16quercetin45 60 11 2412.3CASP3, GFAP, MAPK14, HSPB1
17polyacrylamide459.3BLZF1, GFAP, HSPB1, DES, CRYAB
18cyclosporin a45 29 6011.2RPS27A, BLZF1, MTOR, HSPB1
19adpribose459.2RPS27A, CASP3, DES, MAPK14
20sp 60012545 6010.2MTOR, CASP3, HSPB1, MAPK14
213-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.2MAPK14, CASP3, DES
22glycogen45 2410.2MTOR, GFAP, HTT, DES, RPS27A
23curcumin459.2CASP3, HSPB1, RPS27A, MAPK14
24rotenone459.1CASP3, RPS27A, MAPK14
25sucrose45 11 2411.1BLZF1, CRYAB, HTT, HSPB1
26glutamine459.0BLZF1, HSPB1, CRYAB, GFAP, HTT, RPS27A
27retinoid459.0HSPB1, HTT, RPS27A, BLZF1, MAPK14
28pd 98,059458.9MTOR, GFAP, MAPK14, HSPB1, CASP3
29mg 13245 609.9BLZF1, HSPB1, RPS27A, MAPK14, CASP3
30iron45 249.9GFAP, DES, HTT, BLZF1, NDUFV1
31imatinib45 50 1110.9MTOR, RPS27A, DES, MAPK14, CASP3
32glyceraldehyde 3-phosphate458.8GFAP, HTT, HSPB1, BLZF1
33lysine458.7DES, CRYAB, HTT, RPS27A, BLZF1
34lactate458.7RPS27A, DES, BLZF1, HTT, CASP3, GFAP
35testosterone45 60 11 2411.7BLZF1, HTT, RPS27A, MTOR, DES, GFAP
36arginine458.7RPS27A, BLZF1, DES, MTOR, GFAP, HSPB1
37rapamycin458.7CASP3, HTT, MTOR, MAPK14, RPS27A, HSPB1
38doxorubicin45 50 1110.6MTOR, CASP3, RPS27A, HSPB1, MAPK14, DES
39genistein45 29 60 2 11 2413.5HSPB1, CASP3, MTOR, MAPK14, BLZF1, GFAP
40cysteine458.4DES, CASP3, GFAP, HSPB1, RPS27A, HTT
41vegf458.4GFAP, DES, MTOR, RPS27A, HSPB1, CASP3
42superoxide45 249.3MAPK14, CRYAB, GFAP, HTT, CASP3, HSPB1
43actinomycin d458.3MAPK14, DES, CRYAB, CASP3, HSPB1, RPS27A
44h2o2458.3MAPK14, CRYAB, BLZF1, CASP3, DES, RPS27A
45cisplatin45 50 60 1111.3RPS27A, HSPB1, CASP3, MTOR, MAPK14, GFAP
46tyrosine457.9HTT, MTOR, BLZF1, MAPK14, RPS27A, DES
47oxygen45 248.8BLZF1, HSPB1, CASP3, HTT, MTOR, MAPK14
48threonine457.7MTOR, DES, MAP3K10, GFAP, BLZF1, RPS27A
49retinoic acid45 248.5CASP3, RPS27A, HSPB1, HTT, MTOR, DES
50serine456.9CASP3, HTT, MTOR, RPS27A, MAPK14, BLZF1

GO Terms for genes affiliated with Alexander Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.6BFSP2, DES, GFAP
2Z discGO:0300189.3CRYAB, DES, HSPB1
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:0359249.7HSPB1, MAPK14
2positive regulation of myotube differentiationGO:0108319.6MTOR, MAPK14
3stress-activated MAPK cascadeGO:0514039.6RPS27A, CRYAB, MAPK14
4positive regulation of blood vessel endothelial cell migrationGO:0435369.4MAPK14, HSPB1
5peptidyl-serine phosphorylationGO:0181059.0MTOR, MAP3K10, MAPK14
6neurotrophin TRK receptor signaling pathwayGO:0480118.8CASP3, RPS27A, MTOR, MAPK14
7apoptotic processGO:0069158.2PLEC, RPS27A, CASP3, MAP3K10, MAPK14

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alexander Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet