CAND
MCID: CNV004
MIFTS: 54

Canavan Disease (CAND) malady

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

Aliases & Classifications for Canavan Disease

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 49NINDS, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Canavan Disease:

Name: Canavan Disease 52 11 71 23 48 24 25 49 54 70 12 50 39 13 68
Aspartoacylase Deficiency 23 48 24 25 54 70
Aminoacylase 2 Deficiency 48 25 54 70 68
Aspa Deficiency 23 48 24 25 70
Acy2 Deficiency 48 25 54 70
Canavan-Van Bogaert-Bertrand Disease 11 48 70
Spongy Degeneration of the Central Nervous System 48 27
 
Spongy Degeneration of Central Nervous System 11 70
Spongy Degeneration of the Brain 54
Von Bogaert-Bertrand Disease 48
Canavan's Disease 25
Aspartoacylase 12
Asp Deficiency 48
Cand 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
canavan disease:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 271900
Disease Ontology11 DOID:3613
MeSH39 D017825
NCIt45 C84611
Orphanet54 ORPHA141
SNOMED-CT62 80544005
MESH via Orphanet40 D017825
UMLS via Orphanet69 C0206307
ICD10 via Orphanet31 E75.2

Summaries for Canavan Disease

About this section
NINDS:49 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.  Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells.  In Canavan disease, many oligodendrocytes do not mature  and instead die, leaving nerve cell projections known as axons vulnerable and unable to properly function.  Canavan disease is caused by mutation in the gene for an enzyme called aspartoacylase, which acts to break down the concentrated brain chemical known as N-acetyl-aspartate.

MalaCards based summary: Canavan Disease, also known as aspartoacylase deficiency, is related to severe canavan disease and mild canavan disease, and has symptoms including opisthotonus, opisthotonus and Array. An important gene associated with Canavan Disease is ASPA (Aspartoacylase), and among its related pathways are Alanine and aspartate metabolism and Trafficking of AMPA receptors. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are behavior/neurological and nervous system.

NIH Rare Diseases:48 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

UniProtKB/Swiss-Prot:70 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.

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:71 Canavan disease, also called Canavan–van Bogaert–Bertrand disease, is an autosomal recessive... more...

Description from OMIM:52 271900

GeneReviews for NBK1234

Related Diseases for Canavan Disease

About this section

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 14)
idRelated DiseaseScoreTop Affiliating Genes
1severe canavan disease12.0
2mild canavan disease12.0
3leukodystrophy11.3
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
14nonarteritic anterior ischemic optic neuropathy8.6AKAP5, ALDH5A1, ASPA, BRCA1, FOLH1, GLUD1

Graphical network of diseases related to Canavan Disease:



Diseases related to canavan disease

Symptoms & Phenotypes for Canavan Disease

About this section

Symptoms by clinical synopsis from OMIM:

271900

Clinical features from OMIM:

271900

Human phenotypes related to Canavan Disease:

 54 64 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly64 54 Frequent (79-30%) HP:0000256
2 hearing impairment64 54 Frequent (79-30%) HP:0000365
3 visual impairment54 Frequent (79-30%)
4 blindness64 54 Frequent (79-30%) HP:0000618
5 optic atrophy64 54 Very frequent (99-80%) HP:0000648
6 abnormality of visual evoked potentials64 54 Frequent (79-30%) HP:0000649
7 seizures64 54 Occasional (29-5%) HP:0001250
8 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
9 global developmental delay64 54 Very frequent (99-80%) HP:0001263
10 hypertonia64 54 Frequent (79-30%) HP:0001276
11 flexion contracture64 54 Occasional (29-5%) HP:0001371
12 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
13 eeg abnormality64 54 Very frequent (99-80%) HP:0002353
14 developmental regression64 54 Occasional (29-5%) HP:0002376
15 reduced consciousness/confusion64 54 Very frequent (99-80%) HP:0004372
16 abnormality of retinal pigmentation64 54 Occasional (29-5%) HP:0007703
17 feeding difficulties in infancy64 54 Very frequent (99-80%) HP:0008872
18 cognitive impairment64 54 Very frequent (99-80%) HP:0100543
19 nystagmus64 HP:0000639
20 delayed closure of the anterior fontanelle64 HP:0001476
21 opisthotonus64 HP:0002179
22 generalized seizures64 HP:0002197
23 aplasia/hypoplasia involving the central nervous system64 HP:0002977
24 cns demyelination64 HP:0007305
25 brain atrophy64 HP:0012444

UMLS symptoms related to Canavan Disease:


opisthotonus

MGI Mouse Phenotypes related to Canavan Disease according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.2AKAP5, ALDH5A1, ASPA, BRCA1, GRIA3, NAT8L
2MP:00036317.4AKAP5, ALDH5A1, ASPA, BRCA1, GRIA3, NAT8L

Drugs & Therapeutics for Canavan Disease

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Glycerolexperimental, approvedPhase 423856-81-5753
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 47443
4
Miconazoleapproved, investigational, vet_approvedPhase 2370622916-47-84189
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 23696
7Anti-Infective AgentsPhase 222062

Interventional clinical trials:

idNameStatusNCT IDPhase
1To Evaluate the Safety of Long-term Use of HPN-100 in the Management of Urea Cycle Disorders (UCDs)CompletedNCT01257737Phase 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

About this section

Genetic tests related to Canavan Disease:

id Genetic test Affiliating Genes
1 Spongy Degeneration of Central Nervous System27
2 Canavan Disease24 ASPA

Anatomical Context for Canavan Disease

About this section

MalaCards organs/tissues related to Canavan Disease:

36
Brain, Testes, Skin

Publications for Canavan Disease

About this section

Articles related to Canavan Disease:

(show top 50)    (show all 171)
idTitleAuthorsYear
1
Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease. (28194442)
2017
2
Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. (28101991)
2017
3
Docking, molecular dynamics and free energy studies on aspartoacylase mutations involved in Canavan disease. (28349879)
2017
4
Rescuing Canavan disease: engineering the wrong cell at the right time. (28374337)
2017
5
Two patients with Canavan disease and structural modeling of a novel mutation. (27531131)
2016
6
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease. (28007430)
2016
7
Novel mutation in an Egyptian patient with infantile Canavan disease. (26613958)
2016
8
Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease. (26791240)
2016
9
Non-genetic therapeutic approaches to Canavan disease. (27288788)
2016
10
A case of Canavan disease with microcephaly. (26992473)
2016
11
Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature. (27927234)
2016
12
Atypical clinical and radiological course of a patient with Canavan disease. (26586007)
2016
13
A Novel Mutation in Aspartoacylase Gene; Canavan Disease. (26664442)
2015
14
Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. (25647544)
2015
15
Canavan disease: an Arab scenario. (25668701)
2015
16
An atypical case of Canavan disease with stroke-like presentation. (25497124)
2015
17
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. (26511242)
2015
18
Ablating N-acetylaspartate prevents leukodystrophy in a Canavan disease model. (25712859)
2015
19
Canavan disease: clinical features and recent advances in research. (24977939)
2014
20
Loss of central auditory processing in a mouse model of Canavan disease. (24826990)
2014
21
Canavan disease - unusual imaging features in a child with mild clinical presentation. (25107638)
2014
22
Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective. (25003821)
2014
23
Brain ultrasound in Canavan disease. (25177395)
2014
24
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. (24272958)
2013
25
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? (22676184)
2013
26
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. (24288037)
2013
27
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. (24036223)
2013
28
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. (23151389)
2013
29
Relationship between enzyme properties and disease progression in Canavan disease. (22850825)
2013
30
Radiological clue to diagnosis of Canavan disease. (22660905)
2013
31
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
32
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. (22611636)
2012
33
Lithium citrate as treatment of Canavan disease. (22592512)
2012
34
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. (22468686)
2012
35
Long-term follow-up after gene therapy for canavan disease. (23253610)
2012
36
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family. (22219087)
2012
37
Expression of aspartoacylase (ASPA) and Canavan disease. (22750302)
2012
38
Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. (21444896)
2011
39
Modification of aspartoacylase for potential use in enzyme replacement therapy for the treatment of Canavan disease. (21095151)
2011
40
Aspartoacylase-lacZ knockin mice: an engineered model of Canavan disease. (21625469)
2011
41
Canavan disease: a novel mutation. (21907889)
2011
42
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. (22019069)
2011
43
A safety trial of high dose glyceryl triacetate for Canavan disease. (21474353)
2011
44
A 439 kb-sized homozygous deletion in 17p13.3 leading to biallelic loss of the ASPA as cause of Canavan disease detected by SNP-array analysis. (19932039)
2010
45
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease. (20034825)
2010
46
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. (20129749)
2010
47
Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease. (20673702)
2010
48
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. (20464498)
2010
49
Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease. (20393311)
2010
50
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009

Variations for Canavan Disease

About this section

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

70 (show all 42)
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
30ASPAp.Glu24LysVAR_078086
31ASPAp.Leu30ProVAR_078087
32ASPAp.Ala57ValVAR_078088
33ASPAp.Arg63ThrVAR_078089
34ASPAp.Leu69ArgVAR_078090
35ASPAp.Gly101ValVAR_078091
36ASPAp.Glu129LysVAR_078092
37ASPAp.Ile170ThrVAR_078093
38ASPAp.Ile177ThrVAR_078094
39ASPAp.Gly180ValVAR_078095
40ASPAp.Asp204HisVAR_078096
41ASPAp.Gln248ArgVAR_078097
42ASPAp.Ala286AspVAR_078098

Clinvar genetic disease variations for Canavan Disease:

5 (show all 33)
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.854A> C (p.Glu285Ala)SNVPathogenicrs28940279GRCh37Chr 17, 3402294: 3402294
8ASPANM_ 001128085.1(ASPA): c.454T> C (p.Cys152Arg)SNVPathogenicrs104894548GRCh37Chr 17, 3386814: 3386814
9ASPANM_ 000049.2(ASPA): c.914C> A (p.Ala305Glu)SNVPathogenicrs28940574GRCh37Chr 17, 3402354: 3402354
10ASPANM_ 001128085.1(ASPA): c.654C> A (p.Cys218Ter)SNVPathogenicrs104894549GRCh37Chr 17, 3397663: 3397663
11ASPANM_ 000049.2(ASPA): c.693C> A (p.Tyr231Ter)SNVPathogenicrs12948217GRCh37Chr 17, 3397702: 3397702
12ASPAASPA, 4-BP DEL, 876AGAAdeletionPathogenic
13ASPAASPA, 1-BP DEL, 32TdeletionPathogenic
14ASPANM_ 001128085.1(ASPA): c.692A> G (p.Tyr231Cys)SNVPathogenicrs104894550GRCh37Chr 17, 3397701: 3397701
15ASPAASPA, EX4DELdeletionPathogenic
16ASPANM_ 001128085.1(ASPA): c.71A> G (p.Glu24Gly)SNVPathogenicrs104894551GRCh37Chr 17, 3379524: 3379524
17ASPANM_ 000049.2(ASPA): c.746A> T (p.Asp249Val)SNVPathogenic/ Likely pathogenicrs104894552GRCh37Chr 17, 3402186: 3402186
18ASPANM_ 000049.2(ASPA): c.212G> A (p.Arg71His)SNVPathogenic/ Likely pathogenicrs104894553GRCh37Chr 17, 3379665: 3379665
19ASPANM_ 000049.2(ASPA): c.922delA (p.Ile308Phefs)deletionLikely pathogenicrs1057516309GRCh38Chr 17, 3499068: 3499068
20ASPANM_ 000049.2(ASPA): c.697delC (p.Arg233Glyfs)deletionLikely pathogenicrs1057516315GRCh37Chr 17, 3397706: 3397706
21ASPANM_ 000049.2(ASPA): c.640G> T (p.Glu214Ter)SNVLikely pathogenicrs1057516416GRCh37Chr 17, 3397649: 3397649
22ASPANM_ 000049.2(ASPA): c.650_ 651delCC (p.Pro217Leufs)deletionLikely pathogenicrs1057516498GRCh38Chr 17, 3494365: 3494366
23ASPANM_ 000049.2(ASPA): c.244dupA (p.Met82Asnfs)duplicationLikely pathogenicrs1057516583GRCh37Chr 17, 3384904: 3384904
24ASPANM_ 000049.2(ASPA): c.867C> A (p.Tyr289Ter)SNVLikely pathogenicrs375736464GRCh38Chr 17, 3499013: 3499013
25ASPANM_ 000049.2(ASPA): c.2T> C (p.Met1Thr)SNVLikely pathogenicrs1057516879GRCh37Chr 17, 3379455: 3379455
26ASPANM_ 000049.2(ASPA): c.245delT (p.Met82Serfs)deletionLikely pathogenicrs1057516962GRCh38Chr 17, 3481611: 3481611
27ASPANM_ 000049.2(ASPA): c.731A> G (p.His244Arg)SNVLikely pathogenicrs1057516995GRCh38Chr 17, 3494446: 3494446
28ASPANM_ 000049.2(ASPA): c.745-2A> GSNVLikely pathogenicrs1057517066GRCh37Chr 17, 3402183: 3402183
29ASPANM_ 000049.2(ASPA): c.827_ 828delGT (p.Cys276Tyrfs)deletionLikely pathogenicrs1057517085GRCh38Chr 17, 3498973: 3498974
30ASPANM_ 000049.2(ASPA): c.924delT (p.Arg309Alafs)deletionLikely pathogenicrs1057517260GRCh37Chr 17, 3402364: 3402364
31ASPANM_ 000049.2(ASPA): c.237-1G> TSNVLikely pathogenicrs1057517291GRCh37Chr 17, 3384896: 3384896
32ASPANM_ 000049.2(ASPA): c.876_ 879delAGAA (p.Glu293Leufs)deletionLikely pathogenicrs1057517450GRCh38Chr 17, 3499022: 3499025
33ASPANM_ 001128085.1(ASPA): c.433-2A> GSNVPathogenicrs63751297GRCh37Chr 17, 3386791: 3386791

Expression for genes affiliated with Canavan Disease

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

Pathways for genes affiliated with Canavan Disease

About this section

GO Terms for genes affiliated with Canavan Disease

About this section

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.0ALDH5A1, GLUD1, NAT8L

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

idNameGO IDScoreTop Affiliating Genes
1glutamine metabolic processGO:00065419.6ALDH5A1, GLUD1
2cellular amino acid biosynthetic processGO:00086528.5ASPA, FOLH1, GLUD1, GPT, NAT8L

Sources for Canavan Disease

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet