MCID: CNV004
MIFTS: 54

Canavan Disease malady

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

Aliases & Classifications for Canavan Disease

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 24GTR, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Canavan Disease:

Name: Canavan Disease 49 10 11 68 21 45 22 23 46 47 12 51 67 36 65
Aspartoacylase Deficiency 68 21 45 22 23 51 67
Aminoacylase 2 Deficiency 68 45 23 51 67 65
Aspa Deficiency 68 21 45 22 23 67
Acy2 Deficiency 68 45 23 51 67
Spongy Degeneration of Central Nervous System 10 68 67
Canavan-Van Bogaert-Bertrand Disease 10 45 67
Spongy Degeneration of the Central Nervous System 45 24
Spongy Degeneration of the Brain 68 51
 
Von Bogaert-Bertrand Disease 68 45
Asp Deficiency 68 45
Spongy Degeneration of White Matter in Infancy 68
Van Bogaert-Bertrand Syndrome 68
Leukodystrophy, Spongiform 68
Canavan's Disease 23
Aspartoacylase 11
Cand 67

Characteristics:

Orphanet epidemiological data:

51
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:

61
canavan disease:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 271900
Disease Ontology10 DOID:3613
MeSH36 D017825
NCIt42 C84611
Orphanet51 141
SNOMED-CT59 80544005
ICD10 via Orphanet28 E75.2
MESH via Orphanet37 D017825
UMLS via Orphanet66 C0206307
UMLS65 C0206307, C3542499

Summaries for Canavan Disease

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NIH Rare Diseases:45 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 cognitive impairment, feeding difficulties in infancy 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, prostate and breast, and related mouse phenotype behavior/neurological.

UniProtKB/Swiss-Prot:67 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:46 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:23 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:68 Canavan disease, also called Canavan-Van Bogaert-Bertrand disease is an autosomal recessive degenerative... more...

Description from OMIM:49 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
14hypothalamic disease9.5BRCA1, FOLH1
15glycogen storage disease xiii6.3AKAP5, 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:

 51 (show all 19)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • eeg anomalies
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • visual loss/blindness/amblyopia
  • abnormal vep/visual evoked potential
  • hearing loss/hypoacusia/deafness
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • motor deficit/trouble
  • hypotonia
  • hypertonia/spasticity/rigidity/stiffness
  • retinitis pigmentosa/retinal pigmentary changes
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • early death/lethality

HPO human phenotypes related to Canavan Disease:

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

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 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 2302622916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
2Antifungal AgentsPhase 23015
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
4Anti-Infective AgentsPhase 2, Phase 117220
5
AldesleukinapprovedPhase 138785898-30-2
Synonyms:
IL-2
Interleukin-2 precursor
 
Proleukin
T-cell growth factor
TCGF
6Interleukin-2Phase 1487
7Antiviral AgentsPhase 18071
8Peripheral Nervous System AgentsPhase 118510
9AnalgesicsPhase 19358
10Analgesics, Non-NarcoticPhase 15184
11Anti-Retroviral AgentsPhase 12794

Interventional clinical trials:

idNameStatusNCT IDPhase
1ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic DiseasesTerminatedNCT00654433Phase 3
2Lithium and Acetate for Canavan DiseaseWithdrawnNCT00657748Phase 2
3Low Dose IL-2 for Ulcerative ColitisRecruitingNCT02200445Phase 1
4GTA-Glyceryltriacetate for Canavan DiseaseActive, not recruitingNCT00278707Phase 1
5Oral Glyceryl Triacetate (GTA) in Newborns With CanavanRecruitingNCT00724802
6Clinical Evaluation of Approved and Investigational Contact LensesRecruitingNCT02669095
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 Canavan Disease22 ASPA

Anatomical Context for Canavan Disease

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MalaCards organs/tissues related to Canavan Disease:

33
Brain, Prostate, Breast, Heart, Thyroid, Liver, B cells

Animal Models for Canavan Disease or affiliated genes

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MGI Mouse Phenotypes related to Canavan Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.3AKAP5, 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
Spongy White Matter: A Novel Neuroimaging Finding in Canavan Disease. (26791240)
2016
2
Novel mutation in an Egyptian patient with infantile Canavan disease. (26613958)
2016
3
A case of Canavan disease with microcephaly. (26992473)
2016
4
N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time. (26511242)
2015
5
Canavan disease: an Arab scenario. (25668701)
2015
6
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. (24036223)
2013
7
Radiological clue to diagnosis of Canavan disease. (22660905)
2013
8
Relationship between enzyme properties and disease progression in Canavan disease. (22850825)
2013
9
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. (24288037)
2013
10
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? (22676184)
2013
11
Expression of aspartoacylase (ASPA) and Canavan disease. (22750302)
2012
12
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. (22019069)
2011
13
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
14
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
15
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. (17632691)
2007
16
Immune responses to AAV in a phase I study for Canavan disease. (16532510)
2006
17
Canavan disease: studies on the knockout mouse. (16802706)
2006
18
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. (17027983)
2006
19
Preimplantation genetic diagnosis of Canavan disease. (16113575)
2005
20
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain. (16002461)
2005
21
Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry. (15149608)
2004
22
Carrier screening for Canavan disease in Australia. (15243987)
2004
23
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
24
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. (14699612)
2004
25
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease). (12776232)
2003
26
Canavan disease: diffusion magnetic resonance imaging findings. (12544239)
2003
27
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. (12638939)
2002
28
Canavan disease prenatal diagnosis and genetic counseling. (12108830)
2002
29
Canavan disease: a review of recent developments. (11589315)
2001
30
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. (10909858)
2000
31
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. (10894213)
2000
32
Recent advances in Canavan disease. (10645473)
1999
33
Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease. (11713764)
1999
34
Biochemistry and molecular biology of Canavan disease. (10227683)
1999
35
N-acetylaspartylglutamate in Canavan disease: an adverse effector? (10333125)
1999
36
Prenatal diagnosis of Canavan disease--problems and dilemmas. (10384383)
1999
37
Molecular basis of Canavan disease. (10724099)
1998
38
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish Population. (9452075)
1998
39
Canavan disease: diagnosis and molecular analysis. (10464621)
1997
40
Identification and expression of eight novel mutations among non- Jewish patients with Canavan disease. (8659549)
1996
41
Prenatal diagnosis for Canavan disease: the use of DNA markers. (7564250)
1995
42
Canavan disease: molecular basis of aspartoacylase deficiency. (7528829)
1994
43
Canavan disease: mutations among Jewish and non-Jewish patients. (8023850)
1994
44
Magnetic resonance imaging in juvenile Canavan disease. (8223809)
1993
45
Cholelithiasis in Canavan disease. (8515536)
1993
46
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid. (8295422)
1993
47
Canavan disease: value of N-acetylaspartic aciduria? (1857492)
1991
48
Canavan disease: findings in four new cases. (1886410)
1991
49
Canavan disease: CT and MR imaging of the brain. (2114773)
1990
50

Variations for Canavan Disease

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

67 (show all 29)
id Symbol AA change Variation ID SNP ID
1ASPAp.Ile143ThrVAR_004995
2ASPAp.Cys152ArgVAR_004996
3ASPAp.Gly274ArgVAR_004998
4ASPAp.Glu285AlaVAR_004999rs28940279
5ASPAp.Phe295SerVAR_005000
6ASPAp.Ala305GluVAR_005001rs28940574
7ASPAp.His21ProVAR_016778
8ASPAp.Ala57ThrVAR_016779
9ASPAp.Arg168HisVAR_016780
10ASPAp.Pro181ThrVAR_016781
11ASPAp.Glu24GlyVAR_016782
12ASPAp.Asp68AlaVAR_016783
13ASPAp.Asp114TyrVAR_016784
14ASPAp.Cys152TrpVAR_016785
15ASPAp.Tyr231CysVAR_016786
16ASPAp.His244ArgVAR_016787
17ASPAp.Asp249ValVAR_016788
18ASPAp.Ile16ThrVAR_039079
19ASPAp.Gly27ArgVAR_039080
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_039089
29ASPAp.Ala287ThrVAR_039090

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 pathogenicrs766328537GRCh37Chr 17, 3379532: 3379532
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 pathogenicrs767666474GRCh37Chr 17, 3379485: 3379485
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
1protein complexGO:00432349.1AKAP5, BRCA1

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activityGO:00164919.7ALDH5A1, GLUD1

Sources for Canavan Disease

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet