MCID: CNV004
MIFTS: 66

Canavan Disease malady

Genetic diseases, Rare diseases, Neuronal diseases categories
Download this MalaCard

Summaries for Canavan Disease

About this section
Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard
NIH Rare Diseases:43 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 are characterized by degeneration of myelin, 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: 7/21/2009

MalaCards: Canavan Disease, also known as aspartoacylase deficiency, is related to severe canavan disease and mild canavan disease, and has symptoms including hypotonia, hypertonia/spasticity/rigidity/stiffness and retinitis pigmentosa/retinal pigmentary changes. An important gene associated with Canavan Disease is ASPA (aspartoacylase), and among its related pathways are Glutamic acid signaling and Trafficking of AMPA receptors. The compounds n-acetyl-aspartyl-glutamate and n-acetylaspartate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related mouse phenotypes are muscle and growth/size/body.

Genetics Home Reference:21 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 are characterized by degeneration of myelin, which is the fatty covering that insulates nerve fibers.

NINDS:44 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.

Wikipedia:65 Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or... more...

Description from OMIM:47 271900

GeneReviews summary for canavan

Aliases & Classifications for Canavan Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 22GTR, 35MeSH, 58SNOMED-CT, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
canavan disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

canavan disease 8 9 65 19 43 20 21 44 47 10 45 49 62
aspartoacylase deficiency 65 19 43 21 49
aminoacylase 2 deficiency 65 43 21 49
acy2 deficiency 65 43 21 49
aspa deficiency 65 19 43 21
spongy degeneration of central nervous system 8 65 21
canavan-van bogaert-bertrand disease 8 43 21
spongy degeneration of the brain 65 21 49
von bogaert-bertrand disease 65 43 21
asp deficiency 65 43 21
spongy degeneration of the central nervous system 43 22
spongy degeneration of white matter in infancy 65 21
van bogaert-bertrand syndrome 65 21
leukodystrophy, spongiform 65 21


External Ids:

Disease Ontology8 DOID:3613
MeSH35 D017825
OMIM47 271900
NCIt40 C84611
SNOMED-CT58 80544005
MESH via Orphanet36 D017825
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet59 80544005
UMLS via Orphanet63 C0206307

Related Diseases for Canavan Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Canavan Disease:



Diseases related to canavan disease

Symptoms for Canavan Disease

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

271900

Clinical features from OMIM:

271900

Symptoms:

49 (show all 19)
  • 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
  • motor deficit/trouble
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • 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
  • optic nerve anomaly/optic atrophy/anomaly of the papilla

Drugs & Therapeutics for Canavan Disease

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Canavan Disease

Search NIH Clinical Center for Canavan Disease

Genetic Tests for Canavan Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Canavan Disease:

id Genetic test Affiliating Genes
1 Canavan Disease20 ASPA
2 Spongy Degeneration of Central Nervous System22

Anatomical Context for Canavan Disease

About this section
Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Canavan Disease:

33
Brain, Testes, Skin

Animal Models for Canavan Disease or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Canavan Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2BRCA1, NEU1, ASPA, CACNB3, ALDH5A1
2MP:00053787.9GRIA3, ALDH5A1, ASPA, NEU1, BRCA1, GLUD1
3MP:00053767.4AKAP5, GLUD1, ALDH5A1, CACNB3, FOLH1, BRCA1
4MP:00053867.2AKAP5, BRCA1, NEU1, ASPA, GRIA3, ALDH5A1
5MP:00036317.1GRIA3, ALDH5A1, BRCA1, CACNB3, NEU1, ASPA

Publications for Canavan Disease

About this section
Sources:
52PubMed
See all sources

Articles related to Canavan Disease:

(show top 50)    (show all 148)
idTitleAuthorsYear
1
New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion. (24036223)
2013
2
Radiological clue to diagnosis of Canavan disease. (22660905)
2013
3
Relationship between enzyme properties and disease progression in Canavan disease. (22850825)
2013
4
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. (24288037)
2013
5
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? (22676184)
2013
6
Expression of aspartoacylase (ASPA) and Canavan disease. (22750302)
2012
7
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. (22019069)
2011
8
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
9
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
10
Long term clinical course of Canavan disease--a rare Japanese case]. (19764455)
2009
11
Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. (17632691)
2007
12
Immune responses to AAV in a phase I study for Canavan disease. (16532510)
2006
13
Canavan disease: studies on the knockout mouse. (16802706)
2006
14
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. (17027983)
2006
15
Does ASPA gene mutation in Canavan disease alter oligodendrocyte development? A tissue culture study of ASPA KO mice brain. (16802712)
2006
16
Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. (17177147)
2006
17
Preimplantation genetic diagnosis of Canavan disease. (16113575)
2005
18
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain. (16002461)
2005
19
Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry. (15149608)
2004
20
Carrier screening for Canavan disease in Australia. (15243987)
2004
21
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
22
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. (14699612)
2004
23
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease). (12776232)
2003
24
Canavan disease: diffusion magnetic resonance imaging findings. (12544239)
2003
25
Canavan disease: a monogenic trait with complex genomic interaction. (14567959)
2003
26
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. (12638939)
2002
27
Canavan disease prenatal diagnosis and genetic counseling. (12108830)
2002
28
Canavan disease: a review of recent developments. (11589315)
2001
29
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. (10909858)
2000
30
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. (10894213)
2000
31
Recent advances in Canavan disease. (10645473)
1999
32
Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease. (11713764)
1999
33
Biochemistry and molecular biology of Canavan disease. (10227683)
1999
34
N-acetylaspartylglutamate in Canavan disease: an adverse effector? (10333125)
1999
35
Prenatal diagnosis of Canavan disease--problems and dilemmas. (10384383)
1999
36
Prenatal diagnosis of Canavan disease. (10419617)
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
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. (3354621)
1988

Variations for Canavan Disease

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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

64 (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:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1NM_001128085.1(ASPA): c.854A> C (p.Glu285Ala)single nucleotide variantPathogenicrs28940279GRCh37Chr 17, 3402294: 3402294
2NM_001128085.1(ASPA): c.454T> C (p.Cys152Arg)single nucleotide variantPathogenicrs104894548GRCh37Chr 17, 3386814: 3386814
3NM_001128085.1(ASPA): c.914C> A (p.Ala305Glu)single nucleotide variantPathogenicrs28940574GRCh37Chr 17, 3402354: 3402354
4NM_001128085.1(ASPA): c.654C> A (p.Cys218Ter)single nucleotide variantPathogenicrs104894549GRCh37Chr 17, 3397663: 3397663
5NM_001128085.1(ASPA): c.693C> A (p.Tyr231Ter)single nucleotide variantPathogenicrs12948217GRCh37Chr 17, 3397702: 3397702
6ASPAASPA, 4-BP DEL, 876AGAAdeletionPathogenic
7ASPAASPA, 1-BP DEL, 32TdeletionPathogenic
8NM_001128085.1(ASPA): c.692A> G (p.Tyr231Cys)single nucleotide variantPathogenicrs104894550GRCh37Chr 17, 3397701: 3397701
9ASPAASPA, EX4DELdeletionPathogenic
10NM_001128085.1(ASPA): c.71A> G (p.Glu24Gly)single nucleotide variantPathogenicrs104894551GRCh37Chr 17, 3379524: 3379524
11NM_001128085.1(ASPA): c.746A> T (p.Asp249Val)single nucleotide variantPathogenicrs104894552GRCh37Chr 17, 3402186: 3402186

Expression for genes affiliated with Canavan Disease

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Canavan Disease

Search GEO for disease gene expression data for Canavan Disease.

Pathways for genes affiliated with Canavan Disease

About this section
Sources:
50PathCards, 12EMD Millipore, 54R&D Systems, 55Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Canavan Disease

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 51PharmGKB, 3BitterDB
See all sources

Compounds related to Canavan Disease according to GeneCards/GeneDecks:

(show all 41)
idCompoundScoreTop Affiliating Genes
1n-acetyl-aspartyl-glutamate4510.3ASPA, FOLH1
2n-acetylaspartate4510.3ASPA, FOLH1
3nh4cl4510.1BRCA1, NEU1
4L-Aspartic acid24 1111.0ASPA, GLUD1
5glutaraldehyde459.9GLUD1, NEU1
6vigabatrin29 45 1111.9ALDH5A1, GLUD1
7platinum45 5110.9GLUD1, BRCA1
8gamma-hydroxybutyrate459.9GLUD1, ALDH5A1
9chlorpromazine29 45 51 1112.9GLUD1, NEU1
10amantadine45 1110.7NEU1, GPT
11acetyl-coa45 2410.7GLUD1, ASPA, BRCA1
12isoniazid45 51 1111.6GPT, NEU1
13glycerol45 24 1111.6BRCA1, NEU1, GLUD1
14polyacrylamide459.6GLUD1, NEU1, BRCA1
15monoethylglycinexylidide459.5GLUD1, GPT
16succinate459.5GLUD1, ALDH5A1
176-phosphogluconate459.5GPT, GLUD1
18Oxoglutaric acid249.4GLUD1, GPT
19ribavirin45 51 1111.4NEU1, GPT
20valproate459.4GLUD1, GPT
21pyridoxal 5-phosphate459.4GLUD1, GPT
22proline459.3BRCA1, AKAP5, GLUD1
23famotidine45 3 24 1112.3GLUD1, GPT
24methotrexate51 45 1111.3FOLH1, BRCA1, GPT
25malate459.3GLUD1, GPT
26gaba459.2GLUD1, GRIA3, ALDH5A1
27Water249.2NEU1, ASPA, ALDH5A1, GLUD1
28cysteine459.2BRCA1, NEU1, FOLH1, GLUD1
29fatty acid459.2BRCA1, ASPA, GLUD1
30ccl445 2910.1GLUD1, GPT
31alpha-ketoglutarate459.1GLUD1, ALDH5A1, GPT
32vitamin b12459.0FOLH1, GPT
33nmda45 2910.0GLUD1, GRIA3, FOLH1, AKAP5
34potassium45 24 1111.0GPT, AKAP5, GLUD1
35aspartate458.9GPT, ASPA, FOLH1, GLUD1
36serine458.8BRCA1, NEU1, AKAP5, FOLH1, GLUD1
37glutamine458.7GLUD1, ALDH5A1, BRCA1, GPT
38l-glutamic acid29 24 1110.6GPT, FOLH1, GRIA3, GLUD1
39alanine458.4GPT, BRCA1, FOLH1, ALDH5A1, GLUD1
40calcium45 51 24 1111.2BRCA1, AKAP5, CACNB3, ALDH5A1, GRIA3
41glutamate457.5GLUD1, GRIA3, ALDH5A1, FOLH1, AKAP5, ASPA

GO Terms for genes affiliated with Canavan Disease

About this section
Sources:
16Gene Ontology
See all sources

Biological processes related to Canavan Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutamine metabolic processGO:0065419.2GLUD1, ALDH5A1
2cellular amino acid biosynthetic processGO:0086529.1GLUD1, GPT
3synaptic transmissionGO:0072688.4GRIA3, ALDH5A1, CACNB3, AKAP5

Products for genes affiliated with Canavan Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Canavan Disease

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet