ALX
MCID: ALX003
MIFTS: 76

Alexander Disease (ALX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Mental diseases categories
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Summaries for Alexander Disease

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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 based summary: Alexander Disease, also known as alexander's disease, is related to leukodystrophy and syringoma, and has symptoms including frontal bossing/prominent forehead, large face and scoliosis. 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: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:65 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, 65Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 20GeneTests, 22GTR, 44Novoseek, 34MeSH, 39NCIt, 57SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Alexander Disease, Aliases & Descriptions:

Name: Alexander Disease 8 9 65 19 42 21 43 46 10 48 62
Alexander's Disease 8 20 22 21
Leukodystrophy with Rosenthal Fibers 65 21 62
Fibrinoid Degeneration of Astrocytes 65 21 62
Dysmyelinogenic Leukodystrophy 65 21 62
Demyelinogenic Leukodystrophy 65 21 62
 
Axd 65 21 48
Alexanders Leukodystrophy 42 62
Alx 65 21
Megalencephaly in Infancy Accompanied by Progressive Spasticity and Dementia 42
Alexanders Disease 44


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:4252
MeSH34 D038261
OMIM46 203450
NCIt39 C84545
SNOMED-CT57 81854007
MESH via Orphanet35 D038261
ICD10 via Orphanet26 E75.2
UMLS via Orphanet63 C0270726

Related Diseases for Alexander Disease

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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 77)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy31.3GFAP, CRYAB
2syringoma10.5GFAP
3pineocytoma10.5GFAP
4creutzfeldt-jakob disease10.4HSPB1, CRYAB
5subependymal giant cell astrocytoma10.4GFAP, MTOR
6myofibrillar myopathy10.3CRYAB, DES
7machado-joseph disease10.3HSPB1, HTT
8cerebritis10.3
9peutz-jeghers syndrome10.3MTOR, BLZF1
10chordoma10.3GFAP, DES
11pick's disease10.3HTT, CRYAB
12meningioma10.3BLZF1, GFAP, CRYAB
13epidermolysis bullosa simplex10.3PLEC, DES
14central nervous system disease10.3CRYAB, GFAP
15multiple system atrophy10.3CRYAB, HTT, GFAP
16lymphangioleiomyomatosis10.3MTOR, DES
17pleomorphic adenoma10.3DES, GFAP
18angiomyolipoma10.3DES, MTOR
19ataxia10.3
20glioblastoma multiforme10.2CRYAB, MTOR, GFAP
21neurilemmoma10.2GFAP, DES, CRYAB
22noonan syndrome10.2CRYAB, HSPB1, DES
23bullous pemphigoid10.2BLZF1, PLEC
24gastric ulcer10.2MAPK14, HSPB1
25spasticity10.2
26alexander disease type ii10.2
27alexander disease type i10.2
28motor neuron disease10.2HTT, HSPB1
29toxic encephalopathy10.2HTT, GFAP, CASP3
30acute leukemia10.2HSPB1, BLZF1, MTOR
31brain cancer10.2GFAP, CASP3, CRYAB
32malignant glioma10.1GFAP, MTOR, CASP3
33myocardial infarction10.1BLZF1, MAPK14
34skin disease10.1PLEC, HSPB1, MAPK14
35microphthalmia10.1
36frontonasal dysplasia10.1
37sepsis10.0BLZF1, HSPB1, MAPK14
38astrocytoma10.0CRYAB, HSPB1, MAPK14, GFAP
39prion disease10.0CRYAB, BLZF1, HSPB1, HTT, GFAP
40vascular disease10.0CASP3, MAPK14, GFAP
41brain injury10.0
42traumatic brain injury10.0
43neuronitis10.0
44cervicitis10.0
45paraplegia10.0
46sleep apnea10.0
47megalencephalic leukoencephalopathy with subcortical cysts10.0
48mitochondrial disorders10.0
49autonomic dysfunction10.0
50myoclonus10.0

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



Diseases related to alexander disease

Symptoms for Alexander Disease

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Symptoms by clinical synopsis from OMIM:

203450

Clinical features from OMIM:

203450

Symptoms:

48 (show all 64)
  • frontal bossing/prominent forehead
  • large face
  • scoliosis
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • corpus callosum/septum pellucidum total/partial agenesis
  • 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
  • short neck
  • 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

HPO human phenotypes related to Alexander Disease:

(show all 64)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 hypertonia hallmark (90%) HP:0001276
3 hyperreflexia hallmark (90%) HP:0001347
4 megalencephaly hallmark (90%) HP:0001355
5 frontal bossing hallmark (90%) HP:0002007
6 nausea and vomiting hallmark (90%) HP:0002017
7 eeg abnormality hallmark (90%) HP:0002353
8 sleep disturbance hallmark (90%) HP:0002360
9 scoliosis hallmark (90%) HP:0002650
10 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
11 aplasia/hypoplasia of the corpus callosum hallmark (90%) HP:0007370
12 cognitive impairment hallmark (90%) HP:0100543
13 large face hallmark (90%) HP:0100729
14 ptosis typical (50%) HP:0000508
15 nystagmus typical (50%) HP:0000639
16 diplopia typical (50%) HP:0000651
17 hyperhidrosis typical (50%) HP:0000975
18 gait disturbance typical (50%) HP:0001288
19 tremor typical (50%) HP:0001337
20 constipation typical (50%) HP:0002019
21 hypothermia typical (50%) HP:0002045
22 apnea typical (50%) HP:0002104
23 neurological speech impairment typical (50%) HP:0002167
24 pseudobulbar signs typical (50%) HP:0002200
25 incoordination typical (50%) HP:0002311
26 cerebral calcification typical (50%) HP:0002514
27 hypotension typical (50%) HP:0002615
28 kyphosis typical (50%) HP:0002808
29 hemiplegia/hemiparesis typical (50%) HP:0004374
30 feeding difficulties in infancy typical (50%) HP:0008872
31 facial palsy typical (50%) HP:0010628
32 abnormal renal physiology typical (50%) HP:0012211
33 recurrent singultus typical (50%) HP:0100247
34 abnormality of the palate occasional (7.5%) HP:0000174
35 hydrocephalus occasional (7.5%) HP:0000238
36 short neck occasional (7.5%) HP:0000470
37 diabetes mellitus occasional (7.5%) HP:0000819
38 hypothyroidism occasional (7.5%) HP:0000821
39 hypertension occasional (7.5%) HP:0000822
40 precocious puberty occasional (7.5%) HP:0000826
41 melanocytic nevus occasional (7.5%) HP:0000995
42 muscular hypotonia occasional (7.5%) HP:0001252
43 sudden cardiac death occasional (7.5%) HP:0001645
44 chorea occasional (7.5%) HP:0002072
45 respiratory insufficiency occasional (7.5%) HP:0002093
46 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
47 developmental regression occasional (7.5%) HP:0002376
48 encephalitis occasional (7.5%) HP:0002383
49 aqueductal stenosis occasional (7.5%) HP:0002410
50 bowel incontinence occasional (7.5%) HP:0002607
51 hyperlordosis occasional (7.5%) HP:0003307
52 reduced bone mineral density occasional (7.5%) HP:0004349
53 self-injurious behavior occasional (7.5%) HP:0100716
54 autosomal dominant inheritance HP:0000006
55 hydrocephalus HP:0000238
56 seizures HP:0001250
57 ataxia HP:0001251
58 spasticity HP:0001257
59 developmental regression HP:0002376
60 bulbar signs HP:0002483
61 increased csf protein HP:0002922
62 infantile onset HP:0003593
63 progressive macrocephaly HP:0004481
64 diffuse demyelination of the cerebral white matter HP:0007162

Drugs & Therapeutics for Alexander Disease

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Drug clinical trials:

Search ClinicalTrials for Alexander Disease

Search NIH Clinical Center for Alexander Disease

Genetic Tests for Alexander Disease

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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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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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MGI Mouse Phenotypes related to Alexander Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1CRYAB, DES, GFAP, MTOR, PLEC, MAPK14
2MP:00028738.0MAPK14, PLEC, MTOR, HSPB1, HTT, GFAP
3MP:00053857.9HTT, DES, GFAP, PLEC, MAPK14, CASP3
4MP:00053767.8PLEC, HTT, MTOR, DES, GFAP, CASP3
5MP:00053867.7CRYAB, CASP3, HDAC6, DES, GFAP, MTOR
6MP:00053877.7MAPK14, HDAC6, GFAP, CASP3, PLEC, CRYAB
7MP:00036317.5MAPK14, HDAC6, CRYAB, GFAP, MTOR, CASP3
8MP:00053787.4MAPK14, PLEC, HDAC6, MTOR, CASP3, CRYAB
9MP:00053907.4CRYAB, HDAC6, BLZF1, MTOR, HTT, MAPK14
10MP:00107687.1MAPK14, CRYAB, CASP3, HDAC6, DES, GFAP

Publications for Alexander Disease

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Articles related to Alexander Disease:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
Neuroimaging and clinical features in type II (late-onset) Alexander disease. (24306001)
2014
2
Astrocytic TDP-43 pathology in Alexander disease. (24806671)
2014
3
Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease. (25069089)
2014
4
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
5
Alexander disease. (23149175)
2013
6
Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report. (23890466)
2013
7
Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. (23272901)
2013
8
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
9
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (23364391)
2013
10
A young child with seizures and mild developmental delay. Diagnosis: Alexander disease. (23718245)
2013
11
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. (24045243)
2013
12
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
13
An unusual presentation of juvenile Alexander disease. (21940697)
2012
14
Error in Figure in: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP. (23753750)
2012
15
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease. (22705585)
2012
16
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
17
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. (21041050)
2011
18
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. (21414908)
2011
19
Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response. (21552504)
2010
20
The clinical spectrum of late-onset Alexander disease: a systematic literature review. (20721574)
2010
21
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. (19484233)
2009
22
Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease. (20139839)
2009
23
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. (18197187)
2008
24
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
25
Murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance. (17299771)
2007
26
Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. (17805552)
2007
27
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (17894839)
2007
28
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease. (16168595)
2006
29
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. (16168593)
2006
30
A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis. (17043438)
2006
31
Synergistic effects of the SAPK/JNK and the proteasome pathway on glial fibrillary acidic protein (GFAP) accumulation in Alexander disease. (17038307)
2006
32
Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease]. (15696488)
2005
33
Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease. (16217707)
2005
34
Alexander disease: past and present. (15549177)
2004
35
Early cerebral images of Alexander disease: report of one case. (15264709)
2004
36
Alexander disease: a leukodystrophy caused by a mutation in GFAP. (15139294)
2004
37
Alexander disease: GFAP mutations unify young and old. (12849260)
2003
38
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. (14557587)
2003
39
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease. (12638020)
2003
40
Alexander disease. (14623218)
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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UniProtKB/Swiss-Prot genetic disease variations for Alexander Disease:

64 (show all 61)
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.Arg239HisVAR_017472rs59565950
8GFAPp.Arg258ProVAR_017474rs61726468
9GFAPp.Glu362AspVAR_017475rs28932768
10GFAPp.Arg416TrpVAR_017476
11GFAPp.Asp78GluVAR_017477
12GFAPp.Lys63GlnVAR_071517
13GFAPp.Arg66GlnVAR_071518
14GFAPp.Arg70GlnVAR_071519
15GFAPp.Arg70TrpVAR_071520
16GFAPp.Glu72LysVAR_071521
17GFAPp.Met73LysVAR_071522
18GFAPp.Met73ArgVAR_071523
19GFAPp.Met73ThrVAR_071524
20GFAPp.Met74ThrVAR_071525
21GFAPp.Leu76ValVAR_071526
22GFAPp.Asn77LysVAR_071527
23GFAPp.Asn77SerVAR_071528
24GFAPp.Asp78AsnVAR_071529
25GFAPp.Arg79GlyVAR_071530
26GFAPp.Arg79LeuVAR_071531
27GFAPp.Arg79ProVAR_071532
28GFAPp.Tyr83HisVAR_071533
29GFAPp.Lys86GluVAR_071534
30GFAPp.Leu90ProVAR_071535
31GFAPp.Leu97ProVAR_071536
32GFAPp.Leu101ProVAR_071537
33GFAPp.Glu207LysVAR_071540
34GFAPp.Glu207GlnVAR_071541
35GFAPp.Glu210LysVAR_071542
36GFAPp.Leu235ProVAR_071543
37GFAPp.Lys236ThrVAR_071544
38GFAPp.Arg239LeuVAR_071545
39GFAPp.Arg239ProVAR_071546
40GFAPp.Tyr242AspVAR_071547
41GFAPp.Ala253GlyVAR_071548
42GFAPp.Tyr257CysVAR_071549
43GFAPp.Ala267ProVAR_071550
44GFAPp.Arg276LeuVAR_071551
45GFAPp.Lys279GluVAR_071552
46GFAPp.Arg330GlyVAR_071553
47GFAPp.Glu332LysVAR_071554
48GFAPp.Leu352ProVAR_071555
49GFAPp.Leu359ProVAR_071556
50GFAPp.Leu359ValVAR_071557
51GFAPp.Ala364ProVAR_071558
52GFAPp.Tyr366HisVAR_071559
53GFAPp.Glu371GlnVAR_071560
54GFAPp.Glu371ValVAR_071561
55GFAPp.Glu373AspVAR_071562
56GFAPp.Glu373LysVAR_071563
57GFAPp.Glu373GlnVAR_071564
58GFAPp.Glu374GlyVAR_071565
59GFAPp.Glu374GlnVAR_071566
60GFAPp.Arg376GlyVAR_071567
61GFAPp.Ser385PheVAR_071568

Clinvar genetic disease variations for Alexander Disease:

6 (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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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

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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 pathway37
9.2HDAC6, HSPB1, CASP3
119.2HSPB1, MAPK14, CASP3
12
Show member pathways
MAPK signaling pathway37
9.2CASP3, HSPB1, MAPK14
139.1CASP3, MTOR, MAPK14
14
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.1CASP3, MAPK14, MTOR
15
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.1MAPK14, CASP3, MTOR
169.1CASP3, MAPK14, MTOR
17
Show member pathways
9.1MTOR, MAPK14, CASP3
18
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.1MTOR, MAPK14, CASP3
19
Show member pathways
9.0HDAC6, CASP3, MAPK14
20
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.9CASP3, MAPK14, PLEC, HSPB1
21
Show member pathways
Cytoskeleton remodeling Neurofilaments60
8.9DES, GFAP, SYNM, PLEC

Compounds for genes affiliated with Alexander Disease

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Compounds related to Alexander Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1dutp449.7GFAP, CASP3, HSPB1
2sodium arsenite449.7CRYAB, MAPK14, HSPB1
3pd 169316449.6MAPK14, CASP3, HSPB1
4minocycline44 1110.5CASP3, HTT, MAPK14
5evodiamine449.4MAPK14, CASP3
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4CASP3, MAPK14, DES
7methionine449.3HSPB1, CRYAB, GFAP, DES
8quercetin44 61 24 1112.3HSPB1, MAPK14, CASP3, GFAP
9sp 60012544 6110.2MAPK14, MTOR, HSPB1, CASP3
10matrigel449.2GFAP, MAPK14, MTOR, HSPB1
11aloeemodin449.2MAPK14, CASP3
12c2ceramide449.2MAPK14, HSPB1, CASP3
13bortezomib44 50 1111.2CASP3, MAPK14, HSPB1
14arsenite44 2410.2HSPB1, CASP3, MAPK14, MTOR
15imatinib44 50 1111.1CASP3, MAPK14, DES, MTOR
16glyceraldehyde 3-phosphate449.1HSPB1, GFAP, HTT, BLZF1
17sucrose44 24 1111.0CRYAB, HTT, HSPB1, BLZF1
1812-o-tetradecanoylphorbol 13-acetate449.0HSPB1, MTOR, MAPK14, DES
19pd 98,059449.0MAPK14, MTOR, CASP3, GFAP, HSPB1
20rapamycin448.9HSPB1, HTT, MTOR, MAPK14, CASP3
21glutamine448.9BLZF1, HSPB1, HTT, CRYAB, GFAP
22polyacrylamide448.9CRYAB, HSPB1, GFAP, BLZF1, DES
23paclitaxel44 50 1110.8CASP3, MAPK14, HSPB1, GFAP, HDAC6
24doxorubicin44 50 1110.8CASP3, DES, HSPB1, MTOR, MAPK14
25mg 13244 619.8CASP3, MAPK14, HSPB1, BLZF1
26iron44 249.7NDUFV1, HTT, GFAP, BLZF1, DES
27okadaic acid44 619.7HSPB1, MTOR, BLZF1, MAPK14
28retinoid448.7BLZF1, HSPB1, MAPK14, HTT
29progesterone44 28 61 24 1112.6GFAP, BLZF1, CRYAB, DES, HSPB1
30vegf448.5DES, HSPB1, MAPK14, CASP3, GFAP, MTOR
31lactate448.5CASP3, HTT, GFAP, BLZF1, DES
32lysine448.5BLZF1, DES, CRYAB, HDAC6, HTT
33testosterone44 61 24 1111.4BLZF1, DES, HTT, MTOR, GFAP
34cycloheximide448.4BLZF1, CASP3, HSPB1, MAPK14, GFAP
35butyrate448.2CASP3, BLZF1, GFAP, HSPB1, HTT, MAPK14
36cysteine448.2CASP3, DES, HSPB1, BLZF1, HTT, GFAP
37steroid448.2BLZF1, HSPB1, MTOR, CRYAB, DES, HDAC6
38atp44 289.2MTOR, HDAC6, HTT, GFAP, HSPB1, BLZF1
39genistein44 28 61 2 24 1113.2GFAP, CASP3, MAPK14, MTOR, BLZF1, HSPB1
40cisplatin44 50 61 1111.2BLZF1, GFAP, MAPK14, HSPB1, MTOR, CASP3
41estrogen448.1MTOR, HSPB1, GFAP, BLZF1, DES, HDAC6
42actinomycin d448.1BLZF1, HSPB1, MAPK14, CASP3, CRYAB, DES
43glucose448.1BLZF1, MTOR, HSPB1, GFAP, CRYAB, HTT
44h2o2448.1HSPB1, BLZF1, CASP3, CRYAB, MAPK14, DES
45superoxide44 249.0MAPK14, CASP3, HTT, HSPB1, GFAP, BLZF1
46threonine447.7HDAC6, BLZF1, HSPB1, MAPK14, MTOR, DES
47oxygen44 248.4BLZF1, GFAP, HSPB1, CASP3, MTOR, MAPK14
48retinoic acid44 248.4BLZF1, CASP3, MAPK14, GFAP, MTOR, HTT
49tyrosine447.3GFAP, HTT, HDAC6, DES, BLZF1, MAPK14
50serine446.9HTT, HDAC6, DES, BLZF1, GFAP, MAPK14

GO Terms for genes affiliated with Alexander Disease

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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:0083079.5PLEC, SYNM
2beta-tubulin bindingGO:0484879.3HTT, HDAC6
3structural constituent of cytoskeletonGO:0052009.2SYNM, DES, GFAP
4identical protein bindingGO:0428029.1DES, HSPB1, HTT, CRYAB
5protein bindingGO:0055156.4HSPB1, HTT, PLEC, SYNM, MAPK14, CASP3

Products for genes affiliated with Alexander Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Alexander Disease

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet