MCID: CNV004
MIFTS: 55

Canavan Disease malady

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

Aliases & Classifications for Canavan Disease

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Canavan Disease:

Name: Canavan Disease 51 11 70 23 47 24 25 48 53 69 12 49 38 13 67
Aspartoacylase Deficiency 23 47 24 25 53 69
Aminoacylase 2 Deficiency 47 25 53 69 67
Aspa Deficiency 23 47 24 25 69
Acy2 Deficiency 47 25 53 69
Canavan-Van Bogaert-Bertrand Disease 11 47 69
Spongy Degeneration of the Central Nervous System 47 26
 
Spongy Degeneration of Central Nervous System 11 69
Spongy Degeneration of the Brain 53
Von Bogaert-Bertrand Disease 47
Canavan's Disease 25
Aspartoacylase 12
Asp Deficiency 47
Cand 69

Characteristics:

Orphanet epidemiological data:

53
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:

63
canavan disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 271900
Disease Ontology11 DOID:3613
MeSH38 D017825
NCIt44 C84611
Orphanet53 ORPHA141
SNOMED-CT61 80544005
MESH via Orphanet39 D017825
UMLS via Orphanet68 C0206307
ICD10 via Orphanet30 E75.2

Summaries for Canavan Disease

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NIH Rare Diseases:47 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:69 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:48 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:25 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:70 Canavan disease, also called Canavan–van Bogaert–Bertrand disease, is an autosomal recessive... more...

Description from OMIM:51 271900

GeneReviews 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 disease12.0
2mild canavan disease12.0
3leukodystrophy10.0
4tremor10.0
5candidiasis9.9
6succinic semialdehyde dehydrogenase deficiency9.7
7cholelithiasis9.7
8microcephaly9.7
9atypical teratoid rhabdoid tumor9.7
10cerebritis9.7
11neuronitis9.7
12hypotonia9.7
13megalencephaly9.7
14dysostosis9.5BRCA1, FOLH1
15nonarteritic anterior ischemic optic neuropathy6.7AKAP5, 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

Human phenotypes related to Canavan Disease:

 63 53 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy63 53 hallmark (90%) Very frequent (99-80%) HP:0000648
2 eeg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0002353
3 reduced consciousness/confusion63 53 hallmark (90%) Very frequent (99-80%) HP:0004372
4 feeding difficulties in infancy63 53 hallmark (90%) Very frequent (99-80%) HP:0008872
5 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
6 macrocephaly63 53 typical (50%) Frequent (79-30%) HP:0000256
7 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
8 visual impairment63 53 typical (50%) Frequent (79-30%) HP:0000505
9 abnormality of visual evoked potentials63 53 typical (50%) Frequent (79-30%) HP:0000649
10 muscular hypotonia63 53 typical (50%) Frequent (79-30%) HP:0001252
11 hypertonia63 53 typical (50%) Frequent (79-30%) HP:0001276
12 seizures63 53 occasional (7.5%) Occasional (29-5%) HP:0001250
13 flexion contracture63 53 occasional (7.5%) Occasional (29-5%) HP:0001371
14 developmental regression63 53 occasional (7.5%) Occasional (29-5%) HP:0002376
15 abnormality of retinal pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0007703
16 blindness63 53 Frequent (79-30%) HP:0000618
17 nystagmus63 HP:0000639
18 delayed closure of the anterior fontanelle63 HP:0001476
19 opisthotonus63 HP:0002179
20 generalized seizures63 HP:0002197
21 aplasia/hypoplasia involving the central nervous system63 HP:0002977
22 cns demyelination63 HP:0007305
23 brain atrophy63 HP:0012444
24 global developmental delay53 Very frequent (99-80%)
25 gastroesophageal reflux53 Frequent (79-30%)

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):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycerolexperimental, approvedPhase 422356-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
24-phenylbutyric acidPhase 448
3Protective AgentsPhase 47190
4
Miconazoleapproved, investigational, vet_approvedPhase 2362422916-47-84189
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
5
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
6Antifungal AgentsPhase 23615
7Anti-Infective AgentsPhase 221402

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
2A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders (UCDs)Active, not recruitingNCT02246218Phase 4
3ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
4Lithium and Acetate for Canavan DiseaseWithdrawnNCT00657748Phase 2
5GTA-Glyceryltriacetate for Canavan DiseaseUnknown statusNCT00278707Phase 1
6Oral Glyceryl Triacetate (GTA) in Newborns With CanavanUnknown statusNCT00724802
7A Natural History Study of Canavan DiseaseRecruitingNCT02851563
8Efficacy 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 System26
2 Canavan Disease24 ASPA

Anatomical Context for Canavan Disease

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MalaCards organs/tissues related to Canavan Disease:

35
Brain, Testes, Skin

Animal Models for Canavan Disease or affiliated genes

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MGI Mouse Phenotypes related to Canavan Disease:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.1AKAP5, ALDH5A1, ASPA, BRCA1, GRIA3, NAT8L
2MP:00036317.3AKAP5, ALDH5A1, ASPA, BRCA1, GRIA3, NAT8L

Publications for Canavan Disease

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Articles related to Canavan Disease:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. (27927234)
2016
2
Atypical clinical and radiological course of a patient with Canavan disease. (26586007)
2016
3
Canavan disease: an Arab scenario. (25668701)
2015
4
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. (25003821)
2014
5
Radiological clue to diagnosis of Canavan disease. (22660905)
2013
6
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. (24288037)
2013
7
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
8
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. (24272958)
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:

69 (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 34)
id Gene Variation Type Significance SNP ID Assembly Location
1ASPANM_000049.2(ASPA): c.820G> A (p.Gly274Arg)SNVLikely pathogenicrs761064915GRCh37Chr 17, 3402260: 3402260
2ASPANM_000049.2(ASPA): c.859G> A (p.Ala287Thr)SNVLikely pathogenicrs774323189GRCh37Chr 17, 3402299: 3402299
3ASPANM_000049.2(ASPA): c.79G> A (p.Gly27Arg)SNVLikely pathogenicrs766328537GRCh37Chr 17, 3379532: 3379532
4ASPANM_000049.2(ASPA): c.541C> A (p.Pro181Thr)SNVLikely pathogenicrs786204572GRCh37Chr 17, 3392543: 3392543
5ASPANM_000049.2(ASPA): c.244_245delAT (p.Met82Valfs)deletionLikely pathogenicrs786204620GRCh37Chr 17, 3384904: 3384905
6ASPANM_000049.2(ASPA): c.32delT (p.Ile11Asnfs)deletionLikely pathogenicrs767666474GRCh37Chr 17, 3379485: 3379485
7ASPANM_000049.2(ASPA): c.237-2A> TSNVLikely pathogenicrs780936696GRCh37Chr 17, 3384895: 3384895
8ASPANM_000049.2(ASPA): c.854A> C (p.Glu285Ala)SNVPathogenicrs28940279GRCh37Chr 17, 3402294: 3402294
9ASPANM_001128085.1(ASPA): c.454T> C (p.Cys152Arg)SNVPathogenicrs104894548GRCh37Chr 17, 3386814: 3386814
10ASPANM_001128085.1(ASPA): c.914C> A (p.Ala305Glu)SNVPathogenicrs28940574GRCh37Chr 17, 3402354: 3402354
11ASPANM_001128085.1(ASPA): c.654C> A (p.Cys218Ter)SNVPathogenicrs104894549GRCh37Chr 17, 3397663: 3397663
12ASPANM_000049.2(ASPA): c.693C> A (p.Tyr231Ter)SNVPathogenicrs12948217GRCh37Chr 17, 3397702: 3397702
13ASPAASPA, 4-BP DEL, 876AGAAdeletionPathogenicChr na, -1: -1
14ASPAASPA, 1-BP DEL, 32TdeletionPathogenicChr na, -1: -1
15ASPANM_001128085.1(ASPA): c.692A> G (p.Tyr231Cys)SNVPathogenicrs104894550GRCh37Chr 17, 3397701: 3397701
16ASPAASPA, EX4DELdeletionPathogenicChr na, -1: -1
17ASPANM_001128085.1(ASPA): c.71A> G (p.Glu24Gly)SNVPathogenicrs104894551GRCh37Chr 17, 3379524: 3379524
18ASPANM_001128085.1(ASPA): c.746A> T (p.Asp249Val)SNVLikely pathogenic, Pathogenicrs104894552GRCh37Chr 17, 3402186: 3402186
19ASPANM_000049.2(ASPA): c.212G> A (p.Arg71His)SNVLikely pathogenic, Pathogenicrs104894553GRCh37Chr 17, 3379665: 3379665
20ASPANM_000049.2: c.922delAdeletionLikely pathogenicChr na, -1: -1
21ASPANM_000049.2: c.697delCdeletionLikely pathogenicChr na, -1: -1
22ASPANM_000049.2: c.640G> TSNVLikely pathogenicChr na, -1: -1
23ASPANM_000049.2: c.650_651delCCdeletionLikely pathogenicChr na, -1: -1
24ASPANM_000049.2: c.244dupAduplicationLikely pathogenicChr na, -1: -1
25ASPANM_000049.2: c.867C> ASNVLikely pathogenicChr na, -1: -1
26ASPANM_000049.2: c.2T> CSNVLikely pathogenicChr na, -1: -1
27ASPANM_000049.2: c.245delTdeletionLikely pathogenicChr na, -1: -1
28ASPANM_000049.2: c.731A> GSNVLikely pathogenicChr na, -1: -1
29ASPANM_000049.2: c.745-2A> GSNVLikely pathogenicChr na, -1: -1
30ASPANM_000049.2: c.827_828delGTdeletionLikely pathogenicChr na, -1: -1
31ASPANM_000049.2: c.924delTdeletionLikely pathogenicChr na, -1: -1
32ASPANM_000049.2: c.237-1G> TSNVLikely pathogenicChr na, -1: -1
33ASPANM_000049.2: c.876_879delAGAAdeletionLikely pathogenicChr na, -1: -1
34ASPANM_001128085.1(ASPA): c.433-2A> GSNVPathogenicrs63751297GRCh37Chr 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:00057598.9ALDH5A1, 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:00086528.8ASPA, FOLH1, GLUD1, GPT

Sources for Canavan Disease

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet