MCID: CNV004
MIFTS: 55

Canavan Disease malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Canavan Disease

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Canavan Disease:

Name: Canavan Disease 50 11 69 22 46 23 24 47 13 52 68 12 48 37 66
Aspartoacylase Deficiency 22 46 23 24 52 68
Aminoacylase 2 Deficiency 46 24 52 68 66
Aspa Deficiency 22 46 23 24 68
Acy2 Deficiency 46 24 52 68
Canavan-Van Bogaert-Bertrand Disease 11 46 68
Spongy Degeneration of the Central Nervous System 46 25
 
Spongy Degeneration of Central Nervous System 11 68
Spongy Degeneration of the Brain 52
Von Bogaert-Bertrand Disease 46
Canavan's Disease 24
Asp Deficiency 46
Aspartoacylase 12
Cand 68

Characteristics:

Orphanet epidemiological data:

52
canavan disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,late childhood

HPO:

62
canavan disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 271900
Disease Ontology11 DOID:3613
MeSH37 D017825
NCIt43 C84611
Orphanet52 ORPHA141
SNOMED-CT60 80544005
ICD10 via Orphanet29 E75.2
MESH via Orphanet38 D017825
UMLS via Orphanet67 C0206307

Summaries for Canavan Disease

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NIH Rare Diseases:46 Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. this disease is one of a group of genetic disorders called leukodystrophies. leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the fatty covering that insulates nerve fibers. canavan disease is caused by mutations in the aspa gene and is inherited in an autosomal recessive pattern. while it occurs in people of all ethnic backgrounds, it is most common in people of ashkenazi (eastern and central european) jewish heritage, and among saudi arabians.   last updated: 5/14/2015

MalaCards based summary: Canavan Disease, also known as aspartoacylase deficiency, is related to severe canavan disease and mild canavan disease, and has symptoms including optic atrophy, eeg abnormality and reduced consciousness/confusion. An important gene associated with Canavan Disease is ASPA (Aspartoacylase), and among its related pathways are Alanine and aspartate metabolism and Arginine biosynthesis. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are behavior/neurological and nervous system.

UniProtKB/Swiss-Prot:68 Canavan disease: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average.

NINDS:47 Canavan disease is a gene-linked neurological disorder in which the brain degenerates into spongy tissue riddled with microscopic fluid-filled spaces. Canavan disease has been classified as one of a group of genetic disorders known as the leukodystrophies. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task.

Genetics Home Reference:24 Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.

Wikipedia:69 Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is an autosomal recessive... more...

Description from OMIM:50 271900

GeneReviews summary for NBK1234

Related Diseases for Canavan Disease

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Diseases in the Canavan Disease family:

Severe Canavan Disease

Diseases related to Canavan Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
idRelated DiseaseScoreTop Affiliating Genes
1severe canavan disease12.1
2mild canavan disease12.1
3leukodystrophy10.7
4tremor10.1
5candidiasis10.0
6succinic semialdehyde dehydrogenase deficiency9.8
7cholelithiasis9.8
8microcephaly9.8
9atypical teratoid rhabdoid tumor9.8
10cerebritis9.8
11neuronitis9.8
12hypotonia9.8
13megalencephaly9.8
14dysostosis9.5BRCA1, FOLH1
15nonarteritic anterior ischemic optic neuropathy6.3AKAP5, ALDH5A1, ASPA, BRCA1, FOLH1, GLUD1

Graphical network of diseases related to Canavan Disease:



Diseases related to canavan disease

Symptoms for Canavan Disease

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Symptoms by clinical synopsis from OMIM:

271900

Clinical features from OMIM:

271900

Symptoms:

 52 (show all 18)
  • macrocephaly
  • hearing impairment
  • visual impairment
  • blindness
  • optic atrophy
  • abnormality of vision evoked potentials
  • seizures
  • muscular hypotonia
  • global developmental delay
  • hypertonia
  • flexion contracture
  • gastroesophageal reflux
  • eeg abnormality
  • developmental regression
  • reduced consciousness/confusion
  • abnormal retinal pigmentation
  • feeding difficulties in infancy
  • cognitive impairment

HPO human phenotypes related to Canavan Disease:

(show all 28)
id Description Frequency HPO Source Accession
1 optic atrophy hallmark (90%) HP:0000648
2 eeg abnormality hallmark (90%) HP:0002353
3 reduced consciousness/confusion hallmark (90%) HP:0004372
4 feeding difficulties in infancy hallmark (90%) HP:0008872
5 cognitive impairment hallmark (90%) HP:0100543
6 macrocephaly typical (50%) HP:0000256
7 hearing impairment typical (50%) HP:0000365
8 visual impairment typical (50%) HP:0000505
9 abnormality of visual evoked potentials typical (50%) HP:0000649
10 muscular hypotonia typical (50%) HP:0001252
11 hypertonia typical (50%) HP:0001276
12 seizures occasional (7.5%) HP:0001250
13 flexion contracture occasional (7.5%) HP:0001371
14 developmental regression occasional (7.5%) HP:0002376
15 abnormality of retinal pigmentation occasional (7.5%) HP:0007703
16 macrocephaly HP:0000256
17 hearing impairment HP:0000365
18 blindness HP:0000618
19 nystagmus HP:0000639
20 optic atrophy HP:0000648
21 muscular hypotonia HP:0001252
22 delayed closure of the anterior fontanelle HP:0001476
23 opisthotonus HP:0002179
24 generalized seizures HP:0002197
25 developmental regression HP:0002376
26 aplasia/hypoplasia involving the central nervous system HP:0002977
27 cns demyelination HP:0007305
28 brain atrophy HP:0012444

UMLS symptoms related to Canavan Disease:


opisthotonus

Drugs & Therapeutics for Canavan Disease

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Drugs for Canavan Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
14-PHENYLBUTYRIC ACIDPhase 448
2
GlycerolPhase 421056-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin,anhydrous
Glycerine
Glycerinum
Glyceritol
 
Glycerol
Glycerol 85%
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
3
TriacetinPhase 23102-76-15541
Synonyms:
1,2,3-Propanetriol triacetate
1,2,3-Propanetriol triacetate, 9CI
1,2,3-Propanetriol, 1,2,3-triacetate
1,2,3-Propanetriol, triacetate
1,2,3-Propanetriyl triacetate
2-(Acetyloxy)-1-[(acetyloxy)methyl]ethyl acetate
Acetic, 1,2,3-propanetriyl ester
Blekin
E1518
Enzacetin
Enzactin
Enzactin (TN)
Estol 1581
Euzactin
FEMA 2007
Fungacet
Fungacetin
Glycerin triacetate
Glycerol triacetate tributyrin
 
Glyceryl triacetate
Glyped
Kesscoflex tra
Kodaflex triacetin
Motisil
Propane-1,2,3-triyl triacetate
Tri-Acetin
Triacetin
Triacetin (1,2,3-Propanetriol triacetate)
Triacetin (glycerol triacetate)
Triacetin (usp/inn)
Triacetin [inn]
Triacetin, 8CI, BAN, INN, USAN
Triacetina
Triacetine
Triacetinum
Triacetyl glycerin
Triacetyl glycerine
Triacetyl glycerol
Triacetylglycerol
Vanay
4
MiconazolePhase 2357322916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole

Interventional clinical trials:

idNameStatusNCT IDPhase
1To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)Active, not recruitingNCT01257737Phase 4
2ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
3Lithium and Acetate for Canavan DiseaseWithdrawnNCT00657748Phase 2
4GTA-Glyceryltriacetate for Canavan DiseaseActive, not recruitingNCT00278707Phase 1
5A Natural History Study of Canavan DiseaseRecruitingNCT02851563
6Oral Glyceryl Triacetate (GTA) in Newborns With CanavanRecruitingNCT00724802
7Efficacy Study of an Online Educational Module Before Carrier Genetic Screening in Persons of Ashkenazi Jewish Descent.Active, not recruitingNCT01999257

Search NIH Clinical Center for Canavan Disease


Cochrane evidence based reviews: canavan disease

Genetic Tests for Canavan Disease

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Genetic tests related to Canavan Disease:

id Genetic test Affiliating Genes
1 Spongy Degeneration of Central Nervous System25
2 Canavan Disease23 ASPA

Anatomical Context for Canavan Disease

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MalaCards organs/tissues related to Canavan Disease:

34
Brain, Testes, Skin

Animal Models for Canavan Disease or affiliated genes

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MGI Mouse Phenotypes related to Canavan Disease:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.3AKAP5, ALDH5A1, ASPA, BRCA1, GRIA3, NAT8L
2MP:00036317.0AKAP5, ALDH5A1, ASPA, BRCA1, GRIA3, NAT8L

Publications for Canavan Disease

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Articles related to Canavan Disease:

(show top 50)    (show all 165)
idTitleAuthorsYear
1
Atypical clinical and radiological course of a patient with Canavan disease. (26586007)
2016
2
Canavan disease: an Arab scenario. (25668701)
2015
3
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. (25003821)
2014
4
Radiological clue to diagnosis of Canavan disease. (22660905)
2013
5
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. (24288037)
2013
6
Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent. (22878930)
2013
7
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. (24272958)
2013
8
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. (23151389)
2013
9
Lithium citrate as treatment of Canavan disease. (22592512)
2012
10
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
11
Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model. (19685155)
2009
12
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. (17632691)
2007
13
Immune responses to AAV in a phase I study for Canavan disease. (16532510)
2006
14
Does ASPA gene mutation in Canavan disease alter oligodendrocyte development? A tissue culture study of ASPA KO mice brain. (16802712)
2006
15
Canavan disease: a white matter disorder. (16807907)
2006
16
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. (16138249)
2005
17
Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease. (15851013)
2005
18
Lithium citrate for Canavan disease. (16194720)
2005
19
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
20
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease). (12776232)
2003
21
Canavan disease: diffusion magnetic resonance imaging findings. (12544239)
2003
22
Canavan disease: a monogenic trait with complex genomic interaction. (14567959)
2003
23
Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease. (12718900)
2003
24
Canavan disease prenatal diagnosis and genetic counseling. (12108830)
2002
25
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. (12205125)
2002
26
The effects of lithium chloride and other substances on levels of brain N-acetyl-L-aspartic acid in Canavan disease-like rats. (12064356)
2002
27
Canavan disease: a review of recent developments. (11589315)
2001
28
Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease. (11117430)
2000
29
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. (10894262)
2000
30
Recent advances in Canavan disease. (10645473)
1999
31
Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease. (11713764)
1999
32
Biochemistry and molecular biology of Canavan disease. (10227683)
1999
33
Prenatal diagnosis of Canavan disease--problems and dilemmas. (10384383)
1999
34
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. (10407784)
1999
35
The clinical course of Canavan disease. (9568915)
1998
36
Canavan disease--an expanded role for dentists. (9680922)
1998
37
Canavan disease: diagnosis and molecular analysis. (10464621)
1997
38
Identification and expression of eight novel mutations among non- Jewish patients with Canavan disease. (8659549)
1996
39
Prenatal diagnosis for Canavan disease: the use of DNA markers. (7564250)
1995
40
Canavan disease: molecular basis of aspartoacylase deficiency. (7528829)
1994
41
Canavan disease: mutations among Jewish and non-Jewish patients. (8023850)
1994
42
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. (8088831)
1994
43
Magnetic resonance imaging in juvenile Canavan disease. (8223809)
1993
44
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid. (8295422)
1993
45
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. (8295397)
1993
46
Prenatal diagnosis of Canavan disease. (1505585)
1992
47
Canavan disease: findings in four new cases. (1886410)
1991
48
Prenatal detection of Canavan disease. (1672203)
1991
49
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. (2512436)
1989
50
Canavan disease and N-acetylaspartic aciduria. (2608171)
1989

Variations for Canavan Disease

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

68 (show all 29)
id Symbol AA change Variation ID SNP ID
1ASPAp.Ile143ThrVAR_004995rs777936704
2ASPAp.Cys152ArgVAR_004996rs104894548
3ASPAp.Gly274ArgVAR_004998rs761064915
4ASPAp.Glu285AlaVAR_004999rs28940279
5ASPAp.Phe295SerVAR_005000
6ASPAp.Ala305GluVAR_005001rs28940574
7ASPAp.His21ProVAR_016778
8ASPAp.Ala57ThrVAR_016779
9ASPAp.Arg168HisVAR_016780rs770706390
10ASPAp.Pro181ThrVAR_016781rs786204572
11ASPAp.Glu24GlyVAR_016782rs104894551
12ASPAp.Asp68AlaVAR_016783
13ASPAp.Asp114TyrVAR_016784
14ASPAp.Cys152TrpVAR_016785
15ASPAp.Tyr231CysVAR_016786rs104894550
16ASPAp.His244ArgVAR_016787
17ASPAp.Asp249ValVAR_016788rs104894552
18ASPAp.Ile16ThrVAR_039079rs769653717
19ASPAp.Gly27ArgVAR_039080rs766328537
20ASPAp.Asp114GluVAR_039081
21ASPAp.Gly123GluVAR_039082
22ASPAp.Cys152TyrVAR_039083
23ASPAp.Arg168CysVAR_039084
24ASPAp.Pro183HisVAR_039085
25ASPAp.Val186PheVAR_039086
26ASPAp.Met195ArgVAR_039087
27ASPAp.Pro280LeuVAR_039088
28ASPAp.Pro280SerVAR_039089rs750505963
29ASPAp.Ala287ThrVAR_039090rs774323189

Clinvar genetic disease variations for Canavan Disease:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_000049.2(ASPA): c.820G> A (p.Gly274Arg)single nucleotide variantLikely pathogenicrs761064915GRCh37Chr 17, 3402260: 3402260
2NM_000049.2(ASPA): c.859G> A (p.Ala287Thr)single nucleotide variantLikely pathogenicrs774323189GRCh37Chr 17, 3402299: 3402299
3NM_000049.2(ASPA): c.79G> A (p.Gly27Arg)single nucleotide variantLikely pathogenicrs766328537GRCh38Chr 17, 3476238: 3476238
4NM_000049.2(ASPA): c.541C> A (p.Pro181Thr)single nucleotide variantLikely pathogenicrs786204572GRCh37Chr 17, 3392543: 3392543
5NM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs)deletionLikely pathogenicrs786204620GRCh37Chr 17, 3384904: 3384905
6NM_000049.2(ASPA): c.32delT (p.Ile11Asnfs)deletionLikely pathogenicrs767666474GRCh38Chr 17, 3476191: 3476191
7NM_000049.2(ASPA): c.237-2A> Tsingle nucleotide variantLikely pathogenicrs780936696GRCh37Chr 17, 3384895: 3384895
8NM_000049.2(ASPA): c.854A> C (p.Glu285Ala)single nucleotide variantPathogenicrs28940279GRCh37Chr 17, 3402294: 3402294
9NM_001128085.1(ASPA): c.454T> C (p.Cys152Arg)single nucleotide variantPathogenicrs104894548GRCh37Chr 17, 3386814: 3386814
10NM_001128085.1(ASPA): c.914C> A (p.Ala305Glu)single nucleotide variantPathogenicrs28940574GRCh37Chr 17, 3402354: 3402354
11NM_001128085.1(ASPA): c.654C> A (p.Cys218Ter)single nucleotide variantPathogenicrs104894549GRCh37Chr 17, 3397663: 3397663
12NM_000049.2(ASPA): c.693C> A (p.Tyr231Ter)single nucleotide variantPathogenicrs12948217GRCh37Chr 17, 3397702: 3397702
13ASPAASPA, 4-BP DEL, 876AGAAdeletionPathogenic
14ASPAASPA, 1-BP DEL, 32TdeletionPathogenic
15NM_001128085.1(ASPA): c.692A> G (p.Tyr231Cys)single nucleotide variantPathogenicrs104894550GRCh37Chr 17, 3397701: 3397701
16ASPAASPA, EX4DELdeletionPathogenic
17NM_001128085.1(ASPA): c.71A> G (p.Glu24Gly)single nucleotide variantPathogenicrs104894551GRCh37Chr 17, 3379524: 3379524
18NM_001128085.1(ASPA): c.746A> T (p.Asp249Val)single nucleotide variantPathogenicrs104894552GRCh37Chr 17, 3402186: 3402186
19NM_001128085.1(ASPA): c.433-2A> Gsingle nucleotide variantPathogenicrs63751297GRCh37Chr 17, 3386791: 3386791

Expression for genes affiliated with Canavan Disease

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Search GEO for disease gene expression data for Canavan Disease.

Pathways for genes affiliated with Canavan Disease

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GO Terms for genes affiliated with Canavan Disease

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

idNameGO IDScoreTop Affiliating Genes
1asymmetric synapseGO:00322799.8AKAP5, GRIA3
2dendritic shaftGO:00431989.4AKAP5, GRIA3
3mitochondrial matrixGO:00057598.6ALDH5A1, BRCA1, GLUD1

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

idNameGO IDScoreTop Affiliating Genes
1glutamine metabolic processGO:00065419.7ALDH5A1, GLUD1
2cellular amino acid biosynthetic processGO:00086528.9ASPA, FOLH1, GLUD1, GPT

Sources for Canavan Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet