MCID: ALX003
MIFTS: 66

Alexander Disease malady

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

Aliases & Classifications for Alexander Disease

About this section
Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 63Wikipedia, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 42NINDS, 11DISEASES, 47Orphanet, 60UMLS, 20GeneTests, 43Novoseek, 22GTR, 55SNOMED-CT, 38NCIt, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Alexander Disease, Aliases & Descriptions:

Name: Alexander Disease 45 9 10 63 19 41 21 42 11 47 60
Axd 63 41 21 47
Alexander's Disease 9 20 21
Leukodystrophy with Rosenthal Fibers 63 21
Fibrinoid Degeneration of Astrocytes 63 21
Dysmyelinogenic Leukodystrophy 63 21
 
Demyelinogenic Leukodystrophy 63 21
Alexanders Leukodystrophy 41 60
Alexanders Disease 43 22
Alx 63 21
Megalencephaly in Infancy Accompanied by Progressive Spasticity and Dementia 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
alexander disease:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Japan); Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 203450
Disease Ontology9 DOID:4252
NCIt38 C84545
MeSH33 D038261
SNOMED-CT55 81854007
Orphanet47 58
MESH via Orphanet34 D038261
ICD10 via Orphanet26 E75.2
UMLS via Orphanet61 C0270726

Summaries for Alexander Disease

About this section


NIH Rare Diseases:41 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 axd, is related to leukodystrophy and alzheimer disease, and has symptoms including seizures, hypertonia and hyperreflexia. 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.

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.

OMIM:45 In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile,... (203450) more...

NINDS:42 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 progressive and fatal neurodegenerative... more...

GeneReviews summary for alexander

Related Diseases for Alexander Disease

About this section

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 Suite gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1leukodystrophy31.3CRYAB, GFAP
2alzheimer disease29.2BLZF1, GFAP, MTOR, HTT, MAPK14, CASP3
3syringoma10.5GFAP
4pineocytoma10.5GFAP
5creutzfeldt-jakob disease10.3HSPB1, CRYAB
6subependymal giant cell astrocytoma10.3MTOR, GFAP
7myofibrillar myopathy10.3CRYAB, DES
8machado-joseph disease10.3HTT, HSPB1
9cerebritis10.3
10peutz-jeghers syndrome10.3BLZF1, MTOR
11chordoma10.3DES, GFAP
12pick disease10.3HTT, CRYAB
13meningioma, familial10.3CRYAB, GFAP, BLZF1
14central nervous system disease10.3GFAP, CRYAB
15epidermolysis bullosa simplex10.3PLEC, DES
16multiple system atrophy10.3GFAP, HTT, CRYAB
17ataxia10.3
18alexander disease type ii10.3
19alexander disease type i10.3
20lymphangioleiomyomatosis10.3MTOR, DES
21pleomorphic adenoma10.3DES, GFAP
22angiomyolipoma10.2MTOR, DES
23glioblastoma multiforme10.2CRYAB, MTOR, GFAP
24neurilemmoma10.2CRYAB, GFAP, DES
25bullous pemphigoid10.2BLZF1, PLEC
26noonan syndrome 110.2CRYAB, HSPB1, DES
27scoliosis10.2
28spasticity10.2
29gastric ulcer10.2HSPB1, MAPK14
30motor neuron disease10.2HTT, HSPB1
31toxic encephalopathy10.2CASP3, HTT, GFAP
32acute leukemia10.1BLZF1, HSPB1, MTOR
33brain cancer10.1CRYAB, CASP3, GFAP
34malignant glioma10.1CASP3, MTOR, GFAP
35myocardial infarction10.1MAPK14, BLZF1
36microphthalmia10.1
37skin disease10.1HSPB1, PLEC, MAPK14
38megalencephalic leukoencephalopathy with subcortical cysts10.0
39brain injury10.0
40traumatic brain injury10.0
41neuronitis10.0
42cervicitis10.0
43paraplegia10.0
44sleep apnea10.0
45mitochondrial disorders10.0
46autonomic dysfunction10.0
47myoclonus10.0
48tremor10.0
49astrocytoma10.0GFAP, HSPB1, MAPK14, CRYAB
50prion disease10.0BLZF1, GFAP, HSPB1, HTT, CRYAB

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



Diseases related to alexander disease

Symptoms for Alexander Disease

About this section

Symptoms by clinical synopsis from OMIM:

203450

Clinical features from OMIM:

203450

Symptoms:

 47 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Alexander Disease

Search NIH Clinical Center for Alexander Disease

Genetic Tests for Alexander Disease

About this section

Genetic tests related to Alexander Disease:

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

Anatomical Context for Alexander Disease

About this section

MalaCards organs/tissues related to Alexander Disease:

31
Brain, Eye, Cerebellum, Bone, Lung, Cortex, Spinal cord, Medulla oblongata

Animal Models for Alexander Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Alexander Disease:

35
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

About this section

Articles related to Alexander Disease:

(show top 50)    (show all 171)
idTitleAuthorsYear
1
Teaching neuroImages: late-onset Alexander disease. (25422405)
2014
2
Neuroimaging and clinical features in type II (late-onset) Alexander disease. (24306001)
2014
3
Astrocytic TDP-43 pathology in Alexander disease. (24806671)
2014
4
Effects of traumatic brain injury on reactive astrogliosis and seizures in mouse models of Alexander disease. (25069089)
2014
5
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
6
Alexander disease. (23149175)
2013
7
Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: a case report. (23890466)
2013
8
Protein changes in immunodepleted cerebrospinal fluid from a transgenic mouse model of Alexander disease detected using mass spectrometry. (23272901)
2013
9
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
10
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (23364391)
2013
11
A young child with seizures and mild developmental delay. Diagnosis: Alexander disease. (23718245)
2013
12
Alexander disease: a novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings. (24045243)
2013
13
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
14
An unusual presentation of juvenile Alexander disease. (21940697)
2012
15
Error in Figure in: Archetypal and New Families With Alexander Disease and Novel Mutations in GFAP. (23753750)
2012
16
Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease. (22705585)
2012
17
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
18
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival. (21041050)
2011
19
Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. (21414908)
2011
20
Alexander Disease: An Important Mimicker of Focal Brainstem Glioma-Response. (21552504)
2010
21
The clinical spectrum of late-onset Alexander disease: a systematic literature review. (20721574)
2010
22
Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter. (19484233)
2009
23
Cerebral blood flow on ECD SPECT in a patient with adult onset Alexander disease. (20139839)
2009
24
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. (18197187)
2008
25
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
26
Murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance. (17299771)
2007
27
Alexander disease with occipital predominance and a novel c.799G&gt;C mutation in the GFAP gene. (17805552)
2007
28
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. (17894839)
2007
29
Novel mutation of gene coding for glial fibrillary acidic protein in a Japanese patient with Alexander disease. (16168595)
2006
30
An infantile-juvenile form of Alexander disease caused by a R79H mutation in GFAP. (16168593)
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Alexander Disease:

62 (show all 62)
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.Arg258ProVAR_017474rs61726468
10GFAPp.Glu362AspVAR_017475rs28932768
11GFAPp.Arg416TrpVAR_017476
12GFAPp.Asp78GluVAR_017477
13GFAPp.Lys63GlnVAR_071517
14GFAPp.Arg66GlnVAR_071518
15GFAPp.Arg70GlnVAR_071519
16GFAPp.Arg70TrpVAR_071520
17GFAPp.Glu72LysVAR_071521
18GFAPp.Met73LysVAR_071522
19GFAPp.Met73ArgVAR_071523
20GFAPp.Met73ThrVAR_071524
21GFAPp.Met74ThrVAR_071525
22GFAPp.Leu76ValVAR_071526
23GFAPp.Asn77LysVAR_071527
24GFAPp.Asn77SerVAR_071528
25GFAPp.Asp78AsnVAR_071529
26GFAPp.Arg79GlyVAR_071530
27GFAPp.Arg79LeuVAR_071531
28GFAPp.Arg79ProVAR_071532
29GFAPp.Tyr83HisVAR_071533
30GFAPp.Lys86GluVAR_071534
31GFAPp.Leu90ProVAR_071535
32GFAPp.Leu97ProVAR_071536
33GFAPp.Leu101ProVAR_071537
34GFAPp.Glu207LysVAR_071540
35GFAPp.Glu207GlnVAR_071541
36GFAPp.Glu210LysVAR_071542
37GFAPp.Leu235ProVAR_071543
38GFAPp.Lys236ThrVAR_071544
39GFAPp.Arg239LeuVAR_071545
40GFAPp.Arg239ProVAR_071546
41GFAPp.Tyr242AspVAR_071547
42GFAPp.Ala253GlyVAR_071548
43GFAPp.Tyr257CysVAR_071549
44GFAPp.Ala267ProVAR_071550
45GFAPp.Arg276LeuVAR_071551
46GFAPp.Lys279GluVAR_071552
47GFAPp.Arg330GlyVAR_071553
48GFAPp.Glu332LysVAR_071554
49GFAPp.Leu352ProVAR_071555
50GFAPp.Leu359ProVAR_071556
51GFAPp.Leu359ValVAR_071557
52GFAPp.Ala364ProVAR_071558
53GFAPp.Tyr366HisVAR_071559
54GFAPp.Glu371GlnVAR_071560
55GFAPp.Glu371ValVAR_071561
56GFAPp.Glu373AspVAR_071562
57GFAPp.Glu373LysVAR_071563
58GFAPp.Glu373GlnVAR_071564
59GFAPp.Glu374GlyVAR_071565
60GFAPp.Glu374GlnVAR_071566
61GFAPp.Arg376GlyVAR_071567
62GFAPp.Ser385PheVAR_071568

Clinvar genetic disease variations for Alexander Disease:

6 (show all 13)
id Gene Variation 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

About this section
Search GEO for disease gene expression data for Alexander Disease.

Pathways for genes affiliated with Alexander Disease

About this section

Pathways related to Alexander Disease according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7MAPK14, HSPB1
29.7MAPK14, HSPB1
39.7MAPK14, HSPB1
49.6MAPK14, MTOR
59.6MAPK14, MTOR
69.6MTOR, MAPK14
79.5CASP3, MAPK14
8
Show member pathways
9.3CASP3, PLEC, MTOR
99.3HTT, PLEC, MAPK14
10
Show member pathways
Alternative NF-kappaB pathway36
9.2CASP3, HSPB1, HDAC6
11
Show member pathways
MAPK signaling pathway36
9.2CASP3, MAPK14, HSPB1
129.2CASP3, MAPK14, HSPB1
13
Show member pathways
9.1CASP3, MAPK14, MTOR
149.1CASP3, MAPK14, MTOR
15
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
9.1MTOR, MAPK14, CASP3
16
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.1MTOR, MAPK14, CASP3
179.1MTOR, MAPK14, CASP3
18
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.1MTOR, MAPK14, CASP3
19
Show member pathways
9.0CASP3, MAPK14, HDAC6
20
Show member pathways
Proteasome Degradation36
Immune response Antigen presentation by MHC class I58
8.9HSPB1, PLEC, MAPK14, CASP3

Compounds for genes affiliated with Alexander Disease

About this section

Compounds related to Alexander Disease according to GeneCards Suite gene sharing:

(show top 50)    (show all 106)
idCompoundScoreTop Affiliating Genes
1dutp439.7GFAP, CASP3, HSPB1
2sodium arsenite439.7CRYAB, MAPK14, HSPB1
3pd 169316439.6MAPK14, CASP3, HSPB1
4minocycline43 1210.5CASP3, HTT, MAPK14
5evodiamine439.4MAPK14, CASP3
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide439.4CASP3, MAPK14, DES
7methionine439.3HSPB1, CRYAB, GFAP, DES
8quercetin43 59 24 1212.3HSPB1, MAPK14, CASP3, GFAP
9sp 60012543 5910.2MAPK14, MTOR, HSPB1, CASP3
10matrigel439.2GFAP, MAPK14, MTOR, HSPB1
11aloeemodin439.2MAPK14, CASP3
12c2ceramide439.2MAPK14, HSPB1, CASP3
13bortezomib43 49 1211.2CASP3, MAPK14, HSPB1
14arsenite43 2410.2HSPB1, CASP3, MAPK14, MTOR
15imatinib43 49 1211.1CASP3, MAPK14, DES, MTOR
16glyceraldehyde 3-phosphate439.1HSPB1, GFAP, HTT, BLZF1
17sucrose43 24 1211.0CRYAB, HTT, HSPB1, BLZF1
1812-o-tetradecanoylphorbol 13-acetate439.0HSPB1, MTOR, MAPK14, DES
19pd 98,059439.0MAPK14, MTOR, CASP3, GFAP, HSPB1
20rapamycin438.9HSPB1, HTT, MTOR, MAPK14, CASP3
21glutamine438.9BLZF1, HSPB1, HTT, CRYAB, GFAP
22polyacrylamide438.9CRYAB, HSPB1, GFAP, BLZF1, DES
23paclitaxel43 49 1210.8CASP3, MAPK14, HSPB1, GFAP, HDAC6
24doxorubicin43 49 1210.8CASP3, DES, HSPB1, MTOR, MAPK14
25mg 13243 599.8CASP3, MAPK14, HSPB1, BLZF1
26iron43 249.7NDUFV1, HTT, GFAP, BLZF1, DES
27okadaic acid43 599.7HSPB1, MTOR, BLZF1, MAPK14
28retinoid438.7BLZF1, HSPB1, MAPK14, HTT
29progesterone43 28 59 24 1212.6GFAP, BLZF1, CRYAB, DES, HSPB1
30vegf438.5DES, HSPB1, MAPK14, CASP3, GFAP, MTOR
31lactate438.5CASP3, HTT, GFAP, BLZF1, DES
32lysine438.5BLZF1, DES, CRYAB, HDAC6, HTT
33testosterone43 59 24 1211.4BLZF1, DES, HTT, MTOR, GFAP
34cycloheximide438.4BLZF1, CASP3, HSPB1, MAPK14, GFAP
35butyrate438.2CASP3, BLZF1, GFAP, HSPB1, HTT, MAPK14
36cysteine438.2CASP3, DES, HSPB1, BLZF1, HTT, GFAP
37steroid438.2BLZF1, HSPB1, MTOR, CRYAB, DES, HDAC6
38atp43 289.2MTOR, HDAC6, HTT, GFAP, HSPB1, BLZF1
39genistein43 28 59 2 24 1213.2GFAP, CASP3, MAPK14, MTOR, BLZF1, HSPB1
40cisplatin43 49 59 1211.2BLZF1, GFAP, MAPK14, HSPB1, MTOR, CASP3
41estrogen438.1MTOR, HSPB1, GFAP, BLZF1, DES, HDAC6
42actinomycin d438.1BLZF1, HSPB1, MAPK14, CASP3, CRYAB, DES
43glucose438.1BLZF1, MTOR, HSPB1, GFAP, CRYAB, HTT
44h2o2438.1HSPB1, BLZF1, CASP3, CRYAB, MAPK14, DES
45superoxide43 249.0MAPK14, CASP3, HTT, HSPB1, GFAP, BLZF1
46threonine437.7HDAC6, BLZF1, HSPB1, MAPK14, MTOR, DES
47oxygen43 248.4BLZF1, GFAP, HSPB1, CASP3, MTOR, MAPK14
48retinoic acid43 248.4BLZF1, CASP3, MAPK14, GFAP, MTOR, HTT
49tyrosine437.3GFAP, HTT, HDAC6, DES, BLZF1, MAPK14
50serine436.9HTT, HDAC6, DES, BLZF1, GFAP, MAPK14

GO Terms for genes affiliated with Alexander Disease

About this section

Cellular components related to Alexander Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1costamereGO:00430349.5SYNM, PLEC
2Z discGO:00300189.5CRYAB, HSPB1, DES
3inclusion bodyGO:00162349.3HTT, HDAC6
4intermediate filamentGO:00058829.1DES, GFAP, SYNM
5cytosolGO:00058296.8CRYAB, HDAC6, DES, GFAP, HSPB1, MTOR
6cytoplasmGO:00057376.8HDAC6, BLZF1, GFAP, HSPB1, MTOR, HTT

Biological processes related to Alexander Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of blood vessel endothelial cell migrationGO:00435369.7MAPK14, HSPB1
2positive regulation of myotube differentiationGO:00108319.7MAPK14, MTOR
3cellular response to vascular endothelial growth factor stimulusGO:00359249.7MAPK14, HSPB1
4neuron apoptotic processGO:00514029.6HTT, CASP3
5Golgi organizationGO:00070309.3HTT, BLZF1
6neurotrophin TRK receptor signaling pathwayGO:00480118.8CASP3, MAPK14, MTOR

Molecular functions related to Alexander Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.5SYNM, PLEC
2beta-tubulin bindingGO:00484879.3HTT, HDAC6
3structural constituent of cytoskeletonGO:00052009.2DES, GFAP, SYNM
4identical protein bindingGO:00428029.1CRYAB, HTT, HSPB1, DES
5protein bindingGO:00055156.4CRYAB, HDAC6, DES, HSPB1, MTOR, HTT

Products for genes affiliated with Alexander Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Alexander Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet