MCID: ALX003
MIFTS: 58

Alexander Disease

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Alexander Disease

MalaCards integrated aliases for Alexander Disease:

Name: Alexander Disease 53 12 72 72 23 49 24 50 55 71 36 13 41 14 69
Alexander's Disease 12 24 71 28
Alexanders Leukodystrophy 49 69
Alxdrd 53 71
Axd 24 55
Megalencephaly in Infancy Accompanied by Progressive Spasticity and Dementia 49
Fibrinoid Degeneration of Astrocytes 24
Leukodystrophy with Rosenthal Fibers 24
Dysmyelinogenic Leukodystrophy 24
Demyelinogenic Leukodystrophy 24
Alexander Disease Type Ii 55
Alexander Disease Type I 55
Alexanders Disease 51
Axd Type Ii 55
Axd Type I 55
Alx 24

Characteristics:

Orphanet epidemiological data:

55
alexander disease
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Japan); Age of onset: All ages; Age of death: any age;
alexander disease type ii
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: adult;
alexander disease type i
Inheritance: Not applicable; Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 6 months (range birth - 2 years)
death by age 5 (infantile form)
three variants distinguished by age of onset - infantile ( onset before age 2), juvenile (onset in childhood), and adult
juvenile patients have slower clinical course with preserved intellect, bulbar signs, ataxia, and spasticity
adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis


HPO:

31
alexander disease:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Penetrance appears to be nearly 100% in individuals with the infantile and juvenile forms [li et al 2002, messing &amp; brenner 2003a]...

Classifications:



Summaries for Alexander Disease

NINDS : 50 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.  The destruction of white matter is accompanied by the formation of Rosenthal fibers, which are abnormal clumps of protein that accumulate in non-neuronal cells of the brain called astrocytes.  Rosenthal fibers are sometimes found in other disorders, but not in the same amount or area of the brain that are featured in Alexander disease.  The infantile form is the most common type of Alexander disease.  It has an onset during the first two years of life.  Usually there are both mental and physical developmental delays, followed by the loss of developmental milestones, an abnormal increase in head size, and seizures. The juvenile form of Alexander disease is less common and has an onset between the ages of two and thirteen.  These children may have excessive vomiting, difficulty swallowing and speaking, poor coordination, and loss of motor control.  Adult-onset forms of Alexander disease are less common.  The symptoms sometimes mimic those of Parkinson’s disease or multiple sclerosis, or may present primarily as a psychiatric disorder. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its distribution.

MalaCards based summary : Alexander Disease, also known as alexander's disease, is related to leukodystrophy and leukoencephalopathy, hereditary diffuse, with spheroids, and has symptoms including ataxia, constipation and seizures. An important gene associated with Alexander Disease is GFAP (Glial Fibrillary Acidic Protein), and among its related pathways/superpathways are Cytoskeleton remodeling Neurofilaments and ATM Signaling Network in Development and Disease. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and cellular

OMIM : 53 In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene. (203450)

UniProtKB/Swiss-Prot : 71 Alexander disease: A rare disorder of the central nervous system. The most common form affects infants and young children, and is characterized by progressive failure of central myelination, usually leading to death within the first decade. Infants with Alexander disease develop a leukodystrophy with macrocephaly, seizures, and psychomotor retardation. Patients with juvenile or adult forms typically experience ataxia, bulbar signs and spasticity, and a more slowly progressive course. Histologically, Alexander disease is characterized by Rosenthal fibers, homogeneous eosinophilic inclusions in astrocytes.

NIH Rare Diseases : 49 Alexander disease is a type of leukodystrophy characterized by the destruction of  the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) 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: 12/29/2015

Genetics Home Reference : 24 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.

Disease Ontology : 12 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.

GeneReviews: NBK1172

Related Diseases for Alexander Disease

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



Diseases related to Alexander Disease

Symptoms & Phenotypes for Alexander Disease

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
hydrocephalus
spasticity
psychomotor regression
diffuse demyelination (increased signal intensity in t2-weighted images, especially frontal lobes)
more
Laboratory Abnormalities:
presence of rosenthal fibers (cytoplasmic inclusions) in astrocytes
presence of glial fibrillary acidic proteins (gfap) in astrocytes
elevated csf protein

Head And Neck Head:
progressive macrocephaly


Clinical features from OMIM:

203450

Human phenotypes related to Alexander Disease:

55 31 (show top 50) (show all 66)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 constipation 55 31 frequent (33%) Frequent (79-30%) HP:0002019
3 seizures 55 31 hallmark (90%) Very frequent (99-80%) HP:0001250
4 tremor 55 31 frequent (33%) Frequent (79-30%) HP:0001337
5 nausea and vomiting 55 31 hallmark (90%) Very frequent (99-80%) HP:0002017
6 clonus 55 31 hallmark (90%) Very frequent (99-80%) HP:0002169
7 abnormal pyramidal signs 55 31 hallmark (90%) Very frequent (99-80%) HP:0007256
8 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
9 short neck 55 31 occasional (7.5%) Occasional (29-5%) HP:0000470
10 agenesis of corpus callosum 55 31 hallmark (90%) Very frequent (99-80%) HP:0001274
11 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
12 high palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000218
13 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
14 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
15 nystagmus 55 31 frequent (33%) Frequent (79-30%) HP:0000639
16 diplopia 55 31 frequent (33%) Frequent (79-30%) HP:0000651
17 emotional lability 55 31 frequent (33%) Frequent (79-30%) HP:0000712
18 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
19 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
20 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
21 precocious puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000826
22 osteopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000938
23 hyperhidrosis 55 31 frequent (33%) Frequent (79-30%) HP:0000975
24 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
25 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
26 spasticity 55 31 hallmark (90%) Very frequent (99-80%) HP:0001257
27 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
28 gait disturbance 55 31 frequent (33%) Frequent (79-30%) HP:0001288
29 megalencephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001355
30 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
31 dysphonia 55 31 frequent (33%) Frequent (79-30%) HP:0001618
32 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
33 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
34 hypothermia 55 31 frequent (33%) Frequent (79-30%) HP:0002045
35 chorea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002072
36 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
37 eeg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0002353
38 dysphasia 55 31 frequent (33%) Frequent (79-30%) HP:0002357
39 developmental regression 55 31 occasional (7.5%) Occasional (29-5%) HP:0002376
40 encephalitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002383
41 aqueductal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002410
42 tetraplegia 55 31 frequent (33%) Frequent (79-30%) HP:0002445
43 dysautonomia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002459
44 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
45 bowel incontinence 55 31 occasional (7.5%) Occasional (29-5%) HP:0002607
46 hypotension 55 31 frequent (33%) Frequent (79-30%) HP:0002615
47 scoliosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002650
48 kyphosis 55 31 frequent (33%) Frequent (79-30%) HP:0002808
49 hyperlordosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0003307
50 hyperpigmented nevi 55 31 occasional (7.5%) Occasional (29-5%) HP:0007481

UMLS symptoms related to Alexander Disease:


seizures, muscle spasticity

MGI Mouse Phenotypes related to Alexander Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 CRYAB GFAP HDAC6 HTT MTOR PLEC
2 cellular MP:0005384 9.7 CRYAB GFAP HDAC6 HSPB1 HTT MTOR
3 muscle MP:0005369 9.35 CRYAB GFAP MTOR PLEC SYNM
4 normal MP:0002873 9.1 GFAP HDAC6 HSPB1 HTT MTOR PLEC

Drugs & Therapeutics for Alexander Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History and Outcome Measures in Alexander Disease Recruiting NCT02714764

Search NIH Clinical Center for Alexander Disease

Cochrane evidence based reviews: alexander disease

Genetic Tests for Alexander Disease

Genetic tests related to Alexander Disease:

# Genetic test Affiliating Genes
1 Alexander's Disease 28 GFAP

Anatomical Context for Alexander Disease

MalaCards organs/tissues related to Alexander Disease:

38
Brain, Eye, Cortex, Medulla Oblongata, Spinal Cord

Publications for Alexander Disease

Articles related to Alexander Disease:

(show top 50) (show all 219)
# Title Authors Year
1
Aberrant astrocyte Ca<sup>2+</sup>signals "AxCa signals" exacerbate pathological alterations in an Alexander disease model. ( 29383757 )
2018
2
A Novel GFAP Mutation in Late-Onset Alexander Disease Showing Diffusion Restriction. ( 29057636 )
2017
3
Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes. ( 28634469 )
2017
4
Glial fibrillary acidic protein exhibits altered turnover kinetics in a mouse model of Alexander disease. ( 28223355 )
2017
5
Disorders of Astrocytes: Alexander Disease as a Model. ( 28135564 )
2017
6
Ataxia and autonomic dysfunction as presenting symptoms in late-onset Alexander disease. ( 29431177 )
2017
7
Myelin changes in Alexander disease. ( 28342553 )
2017
8
An unusual GFAP mutation in a Taiwanese child with infantile Alexander disease. ( 29339051 )
2017
9
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease. ( 28448978 )
2017
10
A novel three-base duplication, E243dup, of GFAP identified in a patient with Alexander disease. ( 28690862 )
2017
11
Alexander Disease. ( 28112050 )
2017
12
Central hypothermia associated with Alexander disease. A case report. ( 28384596 )
2017
13
Infantile Alexander Disease: Case Report and Review of Literature. ( 28764307 )
2017
14
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease-Reply. ( 28459933 )
2017
15
Considering Spastic Paraplegia Type 7 and Adult-Onset Alexander Disease. ( 28459923 )
2017
16
Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom. ( 28681773 )
2017
17
Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease. ( 29226998 )
2017
18
Novel GFAP Variant in Adult-onset Alexander Disease With Progressive Ataxia and Palatal Tremor. ( 29095329 )
2017
19
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model. ( 28882119 )
2017
20
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease. ( 28359321 )
2017
21
Whole Exon Deletion in the GFAP Gene Is a Novel Molecular Mechanism Causing Alexander Disease. ( 29253910 )
2017
22
The Composition of Rosenthal Fibers, the Protein Aggregate Hallmark of Alexander Disease. ( 27193225 )
2016
23
Atypical MRI features in familial adult onset Alexander disease: case report. ( 27814755 )
2016
24
Mapping of protein-protein interaction network of Alexander disease. ( 27262796 )
2016
25
A novel GFAP mutation in a type II (late-onset) Alexander disease patient. ( 26914930 )
2016
26
MRI diagnosis of infantile Alexander disease in a 14 month old African boy. ( 28580052 )
2016
27
Teaching Video NeuroImages: Palatal tremor in adult-onset Alexander disease. ( 27298457 )
2016
28
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease. ( 26743065 )
2016
29
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes. ( 27402089 )
2016
30
Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases. ( 28360791 )
2016
31
Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution. ( 27442695 )
2016
32
Alexander Disease: A Novel Mutation in GFAP Leading to Epilepsia Partialis Continua. ( 26719496 )
2016
33
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic. ( 27648269 )
2016
34
Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature. ( 25985984 )
2015
35
Elevated GFAP induces astrocyte dysfunction in caudal brain regions: A potential mechanism for hindbrain involved symptoms in type II Alexander disease. ( 26190408 )
2015
36
Type II (adult onset) Alexander disease in a paraplegic male with a rare D128N mutation in the GFAP gene. ( 25997626 )
2015
37
Nitric oxide mediates glial-induced neurodegeneration in Alexander disease. ( 26608817 )
2015
38
Characteristic abnormal signals in medulla oblongata-"eye spot" sign: Four cases of elderly-onset Alexander disease. ( 29443213 )
2015
39
An autopsied case of adult-onset bulbospinalform Alexander disease with a novel S393R mutation in the GFAP gene. ( 25828773 )
2015
40
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever. ( 26486469 )
2015
41
Incidental diagnosis of an asymptomatic adult-onset Alexander disease by brain magnetic resonance imaging for preoperative evaluation. ( 25982497 )
2015
42
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene. ( 26396075 )
2015
43
Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. ( 26208460 )
2015
44
Astrocyte pathology in Alexander disease causes a marked inflammatory environment. ( 26296699 )
2015
45
Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease. ( 26378915 )
2015
46
Prominent cognitive decline and behavioural disturbance in late-onset Alexander disease. ( 26285664 )
2015
47
CSF and Blood Levels of GFAP in Alexander Disease(1,2,3). ( 26478912 )
2015
48
Infantile onset alexander disease with normal head circumference: a genetically proven case report. ( 25584279 )
2014
49
A new mutation in GFAP widens the spectrum of Alexander disease. ( 24961628 )
2014
50
Astrocytic TDP-43 pathology in Alexander disease. ( 24806671 )
2014

Variations for Alexander Disease

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

71 (show top 50) (show all 62)
# Symbol AA change Variation ID SNP ID
1 GFAP p.Leu76Phe VAR_017465 rs57120761
2 GFAP p.Asn77Tyr VAR_017466 rs58732244
3 GFAP p.Arg79Cys VAR_017467 rs59793293
4 GFAP p.Arg79His VAR_017468 rs59285727
5 GFAP p.Arg88Cys VAR_017469 rs61622935
6 GFAP p.Arg88Ser VAR_017470 rs61622935
7 GFAP p.Arg239Cys VAR_017471 rs58064122
8 GFAP p.Arg239His VAR_017472 rs59565950
9 GFAP p.Arg258Pro VAR_017474 rs61726468
10 GFAP p.Glu362Asp VAR_017475 rs121909718
11 GFAP p.Arg416Trp VAR_017476 rs121909717
12 GFAP p.Asp78Glu VAR_017477 rs121909720
13 GFAP p.Lys63Gln VAR_071517 rs60095124
14 GFAP p.Arg66Gln VAR_071518 rs797044569
15 GFAP p.Arg70Gln VAR_071519 rs267607510
16 GFAP p.Arg70Trp VAR_071520 rs60343255
17 GFAP p.Glu72Lys VAR_071521 rs267607523
18 GFAP p.Met73Lys VAR_071522 rs61060395
19 GFAP p.Met73Arg VAR_071523 rs61060395
20 GFAP p.Met73Thr VAR_071524 rs61060395
21 GFAP p.Met74Thr VAR_071525 rs267607504
22 GFAP p.Leu76Val VAR_071526 rs57120761
23 GFAP p.Asn77Lys VAR_071527
24 GFAP p.Asn77Ser VAR_071528 rs57590980
25 GFAP p.Asp78Asn VAR_071529 rs797044571
26 GFAP p.Arg79Gly VAR_071530 rs59793293
27 GFAP p.Arg79Leu VAR_071531 rs59285727
28 GFAP p.Arg79Pro VAR_071532 rs59285727
29 GFAP p.Tyr83His VAR_071533 rs267607506
30 GFAP p.Lys86Glu VAR_071534 rs797044573
31 GFAP p.Leu90Pro VAR_071535 rs59661476
32 GFAP p.Leu97Pro VAR_071536 rs59568967
33 GFAP p.Leu101Pro VAR_071537 rs267607516
34 GFAP p.Glu207Lys VAR_071540 rs267607500
35 GFAP p.Glu207Gln VAR_071541 rs267607500
36 GFAP p.Glu210Lys VAR_071542 rs57661783
37 GFAP p.Leu235Pro VAR_071543 rs60269890
38 GFAP p.Lys236Thr VAR_071544 rs267607525
39 GFAP p.Arg239Leu VAR_071545 rs59565950
40 GFAP p.Arg239Pro VAR_071546 rs59565950
41 GFAP p.Tyr242Asp VAR_071547 rs60551555
42 GFAP p.Ala253Gly VAR_071548 rs61726470
43 GFAP p.Tyr257Cys VAR_071549 rs267607505
44 GFAP p.Ala267Pro VAR_071550 rs797044581
45 GFAP p.Arg276Leu VAR_071551 rs121909719
46 GFAP p.Lys279Glu VAR_071552 rs58536923
47 GFAP p.Arg330Gly VAR_071553 rs267607513
48 GFAP p.Glu332Lys VAR_071554 rs267607514
49 GFAP p.Leu352Pro VAR_071555 rs28932769
50 GFAP p.Leu359Pro VAR_071556 rs267607511

ClinVar genetic disease variations for Alexander Disease:

6 (show top 50) (show all 107)
# Gene Variation Type Significance SNP ID Assembly Location
1 GFAP NM_002055.4(GFAP): c.715C> T (p.Arg239Cys) single nucleotide variant Pathogenic rs58064122 GRCh37 Chromosome 17, 42990702: 42990702
2 GFAP NM_002055.4(GFAP): c.716G> A (p.Arg239His) single nucleotide variant Pathogenic rs59565950 GRCh37 Chromosome 17, 42990701: 42990701
3 GFAP NM_002055.4(GFAP): c.1246C> T (p.Arg416Trp) single nucleotide variant Pathogenic rs121909717 GRCh37 Chromosome 17, 42985443: 42985443
4 GFAP NM_002055.4(GFAP): c.236G> A (p.Arg79His) single nucleotide variant Pathogenic rs59285727 GRCh37 Chromosome 17, 42992619: 42992619
5 GFAP NM_002055.4(GFAP): c.235C> T (p.Arg79Cys) single nucleotide variant Pathogenic rs59793293 GRCh37 Chromosome 17, 42992620: 42992620
6 GFAP NM_002055.4(GFAP): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs61622935 GRCh37 Chromosome 17, 42992593: 42992593
7 GFAP NM_002055.4(GFAP): c.262C> A (p.Arg88Ser) single nucleotide variant Pathogenic rs61622935 GRCh37 Chromosome 17, 42992593: 42992593
8 GFAP NM_002055.4(GFAP): c.226C> T (p.Leu76Phe) single nucleotide variant Pathogenic rs57120761 GRCh37 Chromosome 17, 42992629: 42992629
9 GFAP NM_002055.4(GFAP): c.229A> T (p.Asn77Tyr) single nucleotide variant Pathogenic rs58732244 GRCh37 Chromosome 17, 42992626: 42992626
10 GFAP NM_002055.4(GFAP): c.1086G> C (p.Glu362Asp) single nucleotide variant Pathogenic rs121909718 GRCh37 Chromosome 17, 42988645: 42988645
11 GFAP NM_002055.4(GFAP): c.827G> T (p.Arg276Leu) single nucleotide variant Pathogenic rs121909719 GRCh37 Chromosome 17, 42989119: 42989119
12 GFAP NM_002055.4(GFAP): c.1055T> C (p.Leu352Pro) single nucleotide variant Pathogenic rs28932769 GRCh37 Chromosome 17, 42988676: 42988676
13 GFAP NM_002055.4(GFAP): c.234C> A (p.Asp78Glu) single nucleotide variant Pathogenic rs121909720 GRCh37 Chromosome 17, 42992621: 42992621
14 GFAP NM_002055.4(GFAP): c.1070T> C (p.Leu357Pro) single nucleotide variant Pathogenic rs267607515 GRCh37 Chromosome 17, 42988661: 42988661
15 GFAP NM_002055.4(GFAP): c.1075C> G (p.Leu359Val) single nucleotide variant Pathogenic rs60825166 GRCh37 Chromosome 17, 42988656: 42988656
16 GFAP NM_002055.4(GFAP): c.1076T> C (p.Leu359Pro) single nucleotide variant Pathogenic rs267607511 GRCh37 Chromosome 17, 42988655: 42988655
17 GFAP NM_002055.4(GFAP): c.1079A> T (p.Asp360Val) single nucleotide variant Pathogenic rs62636501 GRCh37 Chromosome 17, 42988652: 42988652
18 GFAP NM_002055.4(GFAP): c.1090G> C (p.Ala364Pro) single nucleotide variant Pathogenic rs58645997 GRCh37 Chromosome 17, 42988641: 42988641
19 GFAP NM_002055.4(GFAP): c.1091C> T (p.Ala364Val) single nucleotide variant Pathogenic rs267607503 GRCh37 Chromosome 17, 42988640: 42988640
20 GFAP NM_002055.4(GFAP): c.1096T> C (p.Tyr366His) single nucleotide variant Pathogenic rs58008462 GRCh37 Chromosome 17, 42988635: 42988635
21 GFAP NM_002055.4(GFAP): c.1097A> G (p.Tyr366Cys) single nucleotide variant Pathogenic rs267607502 GRCh37 Chromosome 17, 42988634: 42988634
22 GFAP NM_002055.4(GFAP): c.1111G> C (p.Glu371Gln) single nucleotide variant Pathogenic rs267607526 GRCh37 Chromosome 17, 42988620: 42988620
23 GFAP NM_002055.4(GFAP): c.1112A> G (p.Glu371Gly) single nucleotide variant Pathogenic rs57815192 GRCh37 Chromosome 17, 42988619: 42988619
24 GFAP NM_002055.4(GFAP): c.1112A> T (p.Glu371Val) single nucleotide variant Pathogenic rs57815192 GRCh37 Chromosome 17, 42988619: 42988619
25 GFAP NM_002055.4(GFAP): c.1117G> A (p.Glu373Lys) single nucleotide variant Pathogenic rs58075601 GRCh37 Chromosome 17, 42988614: 42988614
26 GFAP NM_002055.4(GFAP): c.1117G> C (p.Glu373Gln) single nucleotide variant Pathogenic rs58075601 GRCh37 Chromosome 17, 42988614: 42988614
27 GFAP NM_002055.4(GFAP): c.1121A> G (p.Glu374Gly) single nucleotide variant Pathogenic rs59628143 GRCh37 Chromosome 17, 42988610: 42988610
28 GFAP NM_002055.4(GFAP): c.1126C> T (p.Arg376Trp) single nucleotide variant Pathogenic rs267607512 GRCh37 Chromosome 17, 42988605: 42988605
29 GFAP NM_002055.4(GFAP): c.1148C> T (p.Thr383Ile) single nucleotide variant Pathogenic rs267607517 GRCh37 Chromosome 17, 42988006: 42988006
30 GFAP NM_002055.4(GFAP): c.1157A> T (p.Asn386Ile) single nucleotide variant Pathogenic rs61726471 GRCh37 Chromosome 17, 42987997: 42987997
31 GFAP NM_002055.4(GFAP): c.1178G> T (p.Ser393Ile) single nucleotide variant Pathogenic rs62635764 GRCh37 Chromosome 17, 42985511: 42985511
32 GFAP NM_002055.4(GFAP): c.1193C> A (p.Ser398Tyr) single nucleotide variant Pathogenic rs267607508 GRCh37 Chromosome 17, 42985496: 42985496
33 GFAP NM_002055.4(GFAP): c.1250A> C (p.Asp417Ala) single nucleotide variant Pathogenic rs267607520 GRCh37 Chromosome 17, 42985439: 42985439
34 GFAP NM_002055.4(GFAP): c.1277A> T (p.Gln426Leu) single nucleotide variant Pathogenic rs267607521 GRCh37 Chromosome 17, 42984737: 42984737
35 GFAP NM_002055.4(GFAP): c.187A> C (p.Lys63Gln) single nucleotide variant Pathogenic rs60095124 GRCh37 Chromosome 17, 42992668: 42992668
36 GFAP NM_002055.4(GFAP): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic rs60343255 GRCh37 Chromosome 17, 42992647: 42992647
37 GFAP NM_002055.4(GFAP): c.209G> A (p.Arg70Gln) single nucleotide variant Pathogenic rs267607510 GRCh37 Chromosome 17, 42992646: 42992646
38 GFAP NM_002055.4(GFAP): c.214G> A (p.Glu72Lys) single nucleotide variant Pathogenic rs267607523 GRCh37 Chromosome 17, 42992641: 42992641
39 GFAP NM_002055.4(GFAP): c.218T> A (p.Met73Lys) single nucleotide variant Pathogenic rs61060395 GRCh37 Chromosome 17, 42992637: 42992637
40 GFAP NM_002055.4(GFAP): c.218T> G (p.Met73Arg) single nucleotide variant Pathogenic rs61060395 GRCh37 Chromosome 17, 42992637: 42992637
41 GFAP NM_002055.4(GFAP): c.221T> C (p.Met74Thr) single nucleotide variant Pathogenic rs267607504 GRCh37 Chromosome 17, 42992634: 42992634
42 GFAP NM_002055.4(GFAP): c.226C> G (p.Leu76Val) single nucleotide variant Pathogenic rs57120761 GRCh37 Chromosome 17, 42992629: 42992629
43 GFAP NM_002055.4(GFAP): c.230A> G (p.Asn77Ser) single nucleotide variant Pathogenic rs57590980 GRCh37 Chromosome 17, 42992625: 42992625
44 GFAP NM_002055.4(GFAP): c.235C> G (p.Arg79Gly) single nucleotide variant Pathogenic rs59793293 GRCh37 Chromosome 17, 42992620: 42992620
45 GFAP NM_002055.4(GFAP): c.236G> C (p.Arg79Pro) single nucleotide variant Pathogenic rs59285727 GRCh37 Chromosome 17, 42992619: 42992619
46 GFAP NM_002055.4(GFAP): c.236G> T (p.Arg79Leu) single nucleotide variant Pathogenic rs59285727 GRCh37 Chromosome 17, 42992619: 42992619
47 GFAP NM_002055.4(GFAP): c.247T> C (p.Tyr83His) single nucleotide variant Pathogenic rs267607506 GRCh37 Chromosome 17, 42992608: 42992608
48 GFAP NM_002055.4(GFAP): c.256_259delAAGGinsGAGT (p.Lys86_Val87delinsGluPhe) indel Pathogenic rs267607501 GRCh37 Chromosome 17, 42992596: 42992599
49 GFAP NM_002055.4(GFAP): c.259G> C (p.Val87Leu) single nucleotide variant Pathogenic rs267607518 GRCh37 Chromosome 17, 42992596: 42992596
50 GFAP NM_002055.4(GFAP): c.260T> G (p.Val87Gly) single nucleotide variant Pathogenic rs60449251 GRCh37 Chromosome 17, 42992595: 42992595

Expression for Alexander Disease

Search GEO for disease gene expression data for Alexander Disease.

Pathways for Alexander Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.83 GFAP PLEC SYNM
2 10.82 HSPB1 MTOR
3 10.51 MTOR NDUFV1

GO Terms for Alexander Disease

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.97 CRYAB GFAP HDAC6 HSPB1 HTT MTOR
2 cytosol GO:0005829 9.92 CRYAB GFAP HDAC6 HSPB1 HTT MTOR
3 dendrite GO:0030425 9.61 HDAC6 HTT MTOR
4 axon GO:0030424 9.58 CRYAB HDAC6 HTT
5 cell body GO:0044297 9.46 GFAP HDAC6
6 inclusion body GO:0016234 9.26 HDAC6 HTT
7 costamere GO:0043034 9.16 PLEC SYNM
8 intermediate filament cytoskeleton GO:0045111 9.13 GFAP PLEC SYNM
9 contractile fiber GO:0043292 8.8 CRYAB HSPB1 PLEC

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

# Name GO ID Score Top Affiliating Genes
1 regulation of cellular response to heat GO:1900034 9.32 CRYAB MTOR
2 regulation of macroautophagy GO:0016241 9.26 HDAC6 MTOR
3 regulation of autophagy GO:0010506 9.16 HDAC6 HSPB1
4 regulation of protein phosphorylation GO:0001932 8.96 HSPB1 MTOR
5 positive regulation of glial cell proliferation GO:0060252 8.62 GFAP MTOR

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin binding GO:0043130 9.32 HDAC6 HSPB1
2 cytoskeletal protein binding GO:0008092 9.26 CRYAB PLEC
3 structural constituent of muscle GO:0008307 9.16 PLEC SYNM
4 identical protein binding GO:0042802 9.02 CRYAB GFAP HSPB1 HTT MTOR
5 beta-tubulin binding GO:0048487 8.96 HDAC6 HTT

Sources for Alexander Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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