ALX
MCID: ALX003
MIFTS: 73

Alexander Disease (ALX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories

Summaries for Alexander Disease

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9Disease Ontology, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 Signaling mediated by p38-alpha and p38-beta and p38 MAPK Signaling Pathway. The compounds dutp and sodium arsenite have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and cerebellum, and related mouse phenotypes are muscle and normal.

Disease Ontology:9 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:45 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:66 Alexander disease, also known as fibrinoid leukodystrophy, is a slowly progressing and fatal... more...

Description from OMIM:48 203450

GeneReviews summary for alexander

Aliases & Classifications for Alexander Disease

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Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 21GeneTests, 23GTR, 46Novoseek, 59SNOMED-CT, 41NCIt, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
alexander disease:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

alexander disease 9 10 66 20 44 22 45 48 11 50 63
alexander's disease 9 21 23 22
axd 66 22 50
leukodystrophy with rosenthal fibers 66 22
fibrinoid degeneration of astrocytes 66 22
dysmyelinogenic leukodystrophy 66 22
demyelinogenic leukodystrophy 66 22
alx 66 22
megalencephaly in infancy accompanied by progressive spasticity and dementia 44
alexanders leukodystrophy 44
alexanders disease 46


External Ids:

Disease Ontology9 DOID:4252
NCIt41 C84545
MeSH36 D038261
OMIM48 203450
SNOMED-CT59 81854007
MESH via Orphanet37 D038261
ICD10 via Orphanet27 E75.2
SNOMED-CT via Orphanet60 81854007
UMLS via Orphanet64 C0270726

Related Diseases for Alexander Disease

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Sources:
18GeneCards, 19GeneDecks
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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 74)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy30.8CRYAB, GFAP
2cerebritis10.3
3ataxia10.2
4spasticity10.2
5alexander disease type ii10.2
6alexander disease type i10.2
7syringoma10.1GFAP
8pineocytoma10.1GFAP
9creutzfeldt-jakob disease10.1HSPB1, CRYAB
10subependymal giant cell astrocytoma10.1MTOR, GFAP
11myofibrillar myopathy10.1CRYAB, DES
12spinocerebellar ataxia type 310.1HTT, HSPB1
13peutz-jeghers syndrome10.1BLZF1, MTOR
14chordoma10.1DES, GFAP
15pick's disease10.1HTT, CRYAB
16central nervous system disease10.1GFAP, CRYAB
17meningioma10.1CRYAB, GFAP, BLZF1
18epidermolysis bullosa simplex10.1PLEC, DES
19multiple system atrophy10.1GFAP, HTT, CRYAB
20pleomorphic adenoma10.1DES, GFAP
21lymphangioleiomyomatosis10.1MTOR, DES
22microphthalmia10.1
23frontonasal dysplasia10.1
24angiomyolipoma10.1MTOR, DES
25glioblastoma multiforme10.1CRYAB, MTOR, GFAP
26neurilemmoma10.1CRYAB, GFAP, DES
27bullous pemphigoid10.1BLZF1, PLEC
28noonan syndrome10.0CRYAB, HSPB1, DES
29gastric ulcer10.0HSPB1, MAPK14
30acute leukemia10.0BLZF1, HSPB1, MTOR
31toxic encephalopathy10.0CASP3, HTT, GFAP
32motor neuron disease10.0HTT, HSPB1
33brain cancer10.0CRYAB, CASP3, GFAP
34myocardial infarction10.0MAPK14, BLZF1
35malignant glioma10.0CASP3, MTOR, GFAP
36skin disease10.0HSPB1, PLEC, MAPK14
37sepsis10.0MAPK14, HSPB1, BLZF1
38neuronitis10.0
39cervicitis10.0
40paraplegia10.0
41sleep apnea10.0
42megalencephalic leukoencephalopathy with subcortical cysts10.0
43autonomic dysfunction10.0
44myoclonus10.0
45tremor10.0
46sarcoma10.0MTOR, HSPB1, DES
47astrocytoma10.0GFAP, HSPB1, MAPK14, CRYAB
48vascular disease10.0GFAP, MAPK14, CASP3
49prion disease10.0BLZF1, GFAP, HSPB1, HTT, CRYAB
50b-cell lymphomas10.0CASP3, MAPK14, BLZF1

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



Diseases related to alexander disease

Symptoms for Alexander Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

203450

Clinical features from OMIM:

203450

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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21GeneTests, 23GTR
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Genetic tests related to Alexander Disease:

id Genetic test Affiliating Genes
1 Alexander Disease21 GFAP
2 Alexander's Disease23

Anatomical Context for Alexander Disease

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34MalaCards
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MalaCards organs/tissues related to Alexander Disease:

34
Brain, Eye, Cerebellum, Lung, Cortex, Spinal cord, Medulla oblongata

Animal Models for Alexander Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Alexander Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1CRYAB, DES, GFAP, MTOR, PLEC, MAPK14
2MP:00028738.0HDAC6, GFAP, HSPB1, MTOR, HTT, PLEC
3MP:00053857.9DES, GFAP, HTT, PLEC, MAPK14, CASP3
4MP:00053767.8GFAP, MTOR, HTT, PLEC, MAPK14, CASP3
5MP:00053867.7HDAC6, DES, GFAP, MTOR, HTT, PLEC
6MP:00053877.7HDAC6, GFAP, MTOR, PLEC, MAPK14, CASP3
7MP:00036317.5HDAC6, GFAP, MTOR, HTT, PLEC, MAPK14
8MP:00053787.4HDAC6, GFAP, MTOR, HTT, PLEC, MAPK14
9MP:00053907.4HDAC6, BLZF1, MTOR, HTT, MAPK14, CASP3
10MP:00107687.1HDAC6, DES, GFAP, MTOR, HTT, PLEC

Publications for Alexander Disease

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Sources:
53PubMed
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Articles related to Alexander Disease:

(show top 50)    (show all 162)
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
Alexander disease. (23149175)
2013
4
Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report. (23890466)
2013
5
Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. (23272901)
2013
6
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
7
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (23364391)
2013
8
A young child with seizures and mild developmental delay. Diagnosis: Alexander disease. (23718245)
2013
9
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. (24045243)
2013
10
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
11
An unusual presentation of juvenile Alexander disease. (21940697)
2012
12
Error in Figure in: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP. (23753750)
2012
13
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease. (22705585)
2012
14
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
15
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. (21041050)
2011
16
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. (21414908)
2011
17
Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response. (21552504)
2010
18
The clinical spectrum of late-onset Alexander disease: a systematic literature review. (20721574)
2010
19
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. (19484233)
2009
20
Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease. (20139839)
2009
21
Review of Alexander disease: beyond the classical concept of leukodystrophy. (19386454)
2009
22
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. (18197187)
2008
23
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
24
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. (18684770)
2008
25
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. (17805552)
2007
26
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (17894839)
2007
27
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease. (16168595)
2006
28
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. (16168593)
2006
29
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. (17043438)
2006
30
Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease. (17038307)
2006
31
Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. (15696488)
2005
32
Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. (16217707)
2005
33
Alexander disease: past and present. (15549177)
2004
34
Early cerebral images of Alexander disease: report of one case. (15264709)
2004
35
Alexander disease: a leukodystrophy caused by a mutation in GFAP. (15139294)
2004
36
Alexander disease: GFAP mutations unify young and old. (12849260)
2003
37
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. (14557587)
2003
38
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. (12638020)
2003
39
Alexander disease. (14623218)
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
Alexander disease: a review and the gene. (12175878)
2002
42
Scoliosis in a patient with Alexander disease. (12131431)
2002
43
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. (12368989)
2002
44
Alexander disease: new insights from genetics. (11398833)
2001
45
Alexander disease: diagnosis with MR imaging. (11237983)
2001
46
Advanced glycation modification of Rosenthal fibers in patients with Alexander disease. (9291145)
1997
47
Alexander disease: a case report and review of the literature. (9025838)
1996
48
Overexpression and abnormal modification of the stress proteins alpha B-crystallin and HSP27 in Alexander disease. (8256860)
1993
49
Chromosome 11q23.3-qter deletion and Alexander disease. (2063930)
1991
50
Noninvasive CT diagnosis of infantile Alexander disease: pathologic correlation. (6841718)
1983

Variations for Alexander Disease

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Alexander Disease:

65 (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

Clinvar genetic disease variations for Alexander Disease:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1GFAPNM_002055.4(GFAP): c.715C> T (p.Arg239Cys)single nucleotide variantPathogenicrs58064122GRCh37Chr 17, 42990702: 42990702
2GFAPNM_002055.4(GFAP): c.716G> A (p.Arg239His)single nucleotide variantPathogenicrs59565950GRCh37Chr 17, 42990701: 42990701
3GFAPNM_002055.4(GFAP): c.1246C> T (p.Arg416Trp)single nucleotide variantPathogenicrs121909717GRCh37Chr 17, 42985443: 42985443
4GFAPNM_002055.4(GFAP): c.236G> A (p.Arg79His)single nucleotide variantPathogenicrs59285727GRCh37Chr 17, 42992619: 42992619
5GFAPNM_002055.4(GFAP): c.235C> T (p.Arg79Cys)single nucleotide variantPathogenicrs59793293GRCh37Chr 17, 42992620: 42992620
6GFAPNM_002055.4(GFAP): c.262C> T (p.Arg88Cys)single nucleotide variantPathogenicrs61622935GRCh37Chr 17, 42992593: 42992593
7GFAPNM_002055.4(GFAP): c.262C> A (p.Arg88Ser)single nucleotide variantPathogenicrs61622935GRCh37Chr 17, 42992593: 42992593
8GFAPNM_002055.4(GFAP): c.226C> T (p.Leu76Phe)single nucleotide variantPathogenicrs57120761GRCh37Chr 17, 42992629: 42992629
9GFAPNM_002055.4(GFAP): c.229A> T (p.Asn77Tyr)single nucleotide variantPathogenicrs58732244GRCh37Chr 17, 42992626: 42992626
10GFAPNM_002055.4(GFAP): c.1086G> C (p.Glu362Asp)single nucleotide variantPathogenicrs121909718GRCh37Chr 17, 42988645: 42988645
11GFAPNM_002055.4(GFAP): c.827G> T (p.Arg276Leu)single nucleotide variantPathogenicrs121909719GRCh37Chr 17, 42989119: 42989119
12GFAPNM_002055.4(GFAP): c.1055T> C (p.Leu352Pro)single nucleotide variantPathogenicrs28932769GRCh37Chr 17, 42988676: 42988676
13GFAPNM_002055.4(GFAP): c.234C> A (p.Asp78Glu)single nucleotide variantPathogenicrs121909720GRCh37Chr 17, 42992621: 42992621

Expression for genes affiliated with Alexander Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 61Thomson Reuters, 62Tocris Bioscience, 54QIAGEN, 58SinoBiological, 13EMD Millipore
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Pathways related to Alexander Disease according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MAPK14, HSPB1
29.7HSPB1, MAPK14
39.7HSPB1, MAPK14
49.6MAPK14, MTOR
59.6MAPK14, MTOR
69.6MTOR, MAPK14
79.5CASP3, MAPK14
8
Show member pathways
9.3PLEC, MTOR, CASP3
99.3PLEC, HTT, MAPK14
10
Show member pathways
Alternative NF-kappaB pathway39
9.2HDAC6, HSPB1, CASP3
119.2HSPB1, MAPK14, CASP3
12
Show member pathways
MAPK signaling pathway39
9.2CASP3, HSPB1, MAPK14
139.1CASP3, MTOR, MAPK14
14
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.1CASP3, MAPK14, MTOR
15
Show member pathways
Prolactin Signaling Pathway39
Development Prolactin receptor signaling61
Leptin signaling pathway39
9.1MAPK14, CASP3, MTOR
169.1CASP3, MAPK14, MTOR
17
Show member pathways
9.1MTOR, MAPK14, CASP3
18
Show member pathways
MAPK Cascade39
Immune response Oncostatin M signaling via MAPK in human cells61
Oncostatin M Signaling Pathway39
9.1MTOR, MAPK14, CASP3
19
Show member pathways
9.0HDAC6, CASP3, MAPK14
20
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.9CASP3, MAPK14, PLEC, HSPB1
21
Show member pathways
Cytoskeleton remodeling Neurofilaments61
8.9DES, GFAP, SYNM, PLEC

Compounds for genes affiliated with Alexander Disease

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 25HMDB, 52PharmGKB, 30IUPHAR, 3BitterDB
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Compounds related to Alexander Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1dutp469.7GFAP, CASP3, HSPB1
2sodium arsenite469.7CRYAB, MAPK14, HSPB1
3pd 169316469.6MAPK14, CASP3, HSPB1
4minocycline46 1210.5CASP3, HTT, MAPK14
5evodiamine469.4MAPK14, CASP3
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.4CASP3, MAPK14, DES
7methionine469.3HSPB1, CRYAB, GFAP, DES
8quercetin46 62 25 1212.3HSPB1, MAPK14, CASP3, GFAP
9sp 60012546 6210.2MAPK14, MTOR, HSPB1, CASP3
10matrigel469.2GFAP, MAPK14, MTOR, HSPB1
11aloeemodin469.2MAPK14, CASP3
12c2ceramide469.2MAPK14, HSPB1, CASP3
13bortezomib46 52 1211.2CASP3, MAPK14, HSPB1
14arsenite46 2510.2HSPB1, CASP3, MAPK14, MTOR
15imatinib46 52 1211.1CASP3, MAPK14, DES, MTOR
16glyceraldehyde 3-phosphate469.1HSPB1, GFAP, HTT, BLZF1
17sucrose46 25 1211.0CRYAB, HTT, HSPB1, BLZF1
1812-o-tetradecanoylphorbol 13-acetate469.0HSPB1, MTOR, MAPK14, DES
19pd 98,059469.0MAPK14, MTOR, CASP3, GFAP, HSPB1
20rapamycin468.9HSPB1, HTT, MTOR, MAPK14, CASP3
21glutamine468.9BLZF1, HSPB1, HTT, CRYAB, GFAP
22polyacrylamide468.9CRYAB, HSPB1, GFAP, BLZF1, DES
23paclitaxel46 52 1210.8CASP3, MAPK14, HSPB1, GFAP, HDAC6
24doxorubicin46 52 1210.8CASP3, DES, HSPB1, MTOR, MAPK14
25mg 13246 629.8CASP3, MAPK14, HSPB1, BLZF1
26iron46 259.7NDUFV1, HTT, GFAP, BLZF1, DES
27okadaic acid46 629.7HSPB1, MTOR, BLZF1, MAPK14
28retinoid468.7BLZF1, HSPB1, MAPK14, HTT
29progesterone46 30 62 25 1212.6GFAP, BLZF1, CRYAB, DES, HSPB1
30vegf468.5DES, HSPB1, MAPK14, CASP3, GFAP, MTOR
31lactate468.5CASP3, HTT, GFAP, BLZF1, DES
32lysine468.5BLZF1, DES, CRYAB, HDAC6, HTT
33testosterone46 62 25 1211.4BLZF1, DES, HTT, MTOR, GFAP
34cycloheximide468.4BLZF1, CASP3, HSPB1, MAPK14, GFAP
35butyrate468.2CASP3, BLZF1, GFAP, HSPB1, HTT, MAPK14
36cysteine468.2CASP3, DES, HSPB1, BLZF1, HTT, GFAP
37steroid468.2BLZF1, HSPB1, MTOR, CRYAB, DES, HDAC6
38atp46 309.2MTOR, HDAC6, HTT, GFAP, HSPB1, BLZF1
39genistein46 30 62 3 25 1213.2GFAP, CASP3, MAPK14, MTOR, BLZF1, HSPB1
40cisplatin46 52 62 1211.2BLZF1, GFAP, MAPK14, HSPB1, MTOR, CASP3
41estrogen468.1MTOR, HSPB1, GFAP, BLZF1, DES, HDAC6
42actinomycin d468.1BLZF1, HSPB1, MAPK14, CASP3, CRYAB, DES
43glucose468.1BLZF1, MTOR, HSPB1, GFAP, CRYAB, HTT
44h2o2468.1HSPB1, BLZF1, CASP3, CRYAB, MAPK14, DES
45superoxide46 259.0MAPK14, CASP3, HTT, HSPB1, GFAP, BLZF1
46threonine467.7HDAC6, BLZF1, HSPB1, MAPK14, MTOR, DES
47oxygen46 258.4BLZF1, GFAP, HSPB1, CASP3, MTOR, MAPK14
48retinoic acid46 258.4BLZF1, CASP3, MAPK14, GFAP, MTOR, HTT
49tyrosine467.3GFAP, HTT, HDAC6, DES, BLZF1, MAPK14
50serine466.9HTT, HDAC6, DES, BLZF1, GFAP, MAPK14

GO Terms for genes affiliated with Alexander Disease

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Sources:
17Gene Ontology
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Cellular components related to Alexander Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1costamereGO:0430349.5SYNM, PLEC
2Z discGO:0300189.5CRYAB, HSPB1, DES
3inclusion bodyGO:0162349.3HTT, HDAC6
4intermediate filamentGO:0058829.1DES, GFAP, SYNM
5cytosolGO:0058296.8CRYAB, HDAC6, DES, GFAP, HSPB1, MTOR
6cytoplasmGO:0057376.8HDAC6, BLZF1, GFAP, HSPB1, MTOR, HTT

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of blood vessel endothelial cell migrationGO:0435369.7MAPK14, HSPB1
2positive regulation of myotube differentiationGO:0108319.7MAPK14, MTOR
3cellular response to vascular endothelial growth factor stimulusGO:0359249.7MAPK14, HSPB1
4neuron apoptotic processGO:0514029.6HTT, CASP3
5Golgi organizationGO:0070309.3HTT, BLZF1
6neurotrophin TRK receptor signaling pathwayGO:0480118.8CASP3, MAPK14, MTOR

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.5SYNM, PLEC
2beta-tubulin bindingGO:0484879.3HTT, HDAC6
3structural constituent of cytoskeletonGO:0052009.2DES, GFAP, SYNM
4identical protein bindingGO:0428029.1CRYAB, HTT, HSPB1, DES
5protein bindingGO:0055156.4CRYAB, HDAC6, DES, HSPB1, MTOR, HTT

Products for genes affiliated with Alexander Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alexander Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet