MCID: CNV004
MIFTS: 58

Canavan Disease malady

Neuronal, Metabolic categories

Summaries for Canavan Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 mental retardation and brain disease, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia and eeg anomalies. An important gene associated with Canavan Disease is ASPA (aspartoacylase), and among its related pathways are Alanine and aspartate metabolism and Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity. The compounds n-acetyl-aspartyl-glutamate and n-acetylaspartate have been mentioned in the context of this disorder. Affiliated tissues include brain, skin and fetal brain, and related mouse phenotypes are muscle and behavior/neurological.

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:64 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

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 22GTR, 35MeSH, 40NCIt, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic


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 64 19 43 20 21 44 47 10 45 49 61
aspartoacylase deficiency 64 19 43 21 49
spongy degeneration of central nervous system 8 64 22 21
aminoacylase 2 deficiency 64 43 21 49
acy2 deficiency 64 43 21 49
aspa deficiency 64 19 43 21
spongy degeneration of the brain 64 21 49
asp deficiency 64 43 21
spongy degeneration of white matter in infancy 64 21
canavan-van bogaert-bertrand disease 8 21
van bogaert-bertrand syndrome 64 21
von bogaert-bertrand disease 64 21
leukodystrophy, spongiform 64 21


External Ids:

Disease Ontology8 DOID:3613
MeSH35 D017825
OMIM47 271900
NCIt40 C84611
SNOMED-CT57 80544005
MESH via Orphanet36 D017825
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet58 80544005
UMLS via Orphanet62 C0206307

Related Diseases for Canavan Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Canavan Disease family:

severe canavan disease

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

(show all 19)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.1ALDH5A1, ASPA
2brain disease10.7
3mild canavan disease10.5
4severe canavan disease10.5
5tremor10.3
6atypical teratoid rhabdoid tumor10.1
7cholelithiasis10.1
8rhabdoid tumor10.1
9m�ni�re disease10.1
10hypotonia10.1
11megalencephaly10.1
12lip disease10.1
13succinic semialdehyde dehydrogenase deficiency10.0ALDH5A1
14ischemia10.0GLUD1
15alcohol abuse10.0GPT
16sialuria10.0MID1
17schizophrenia10.0GLUD1, GRIA3, FOLH1
18metabolic syndrome x10.0ALDH5A1, GLUD1, NEU1
19epilepsy syndrome10.0FOLH1, NEU1, GRIA3, GLUD1, ASPA, ALDH5A1

Graphical network of diseases related to Canavan Disease:



Diseases related to canavan disease

Clinical Features for Canavan Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

271900

Clinical synopsis from OMIM:

271900

Symptoms:

49 (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

Drugs & Therapeutics for Canavan Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Canavan Disease

Drug clinical trials:

Search ClinicalTrials for Canavan Disease

Search NIH Clinical Center for Canavan Disease

Search CenterWatch for Canavan Disease

Genetic Tests for Canavan Disease

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Canavan Disease:

33
Brain, Skin, Fetal brain

Animal Models for Canavan Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Canavan Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4CACNB3, NEU1, MID1, ASPA, ALDH5A1, BRCA1
2MP:00053867.0GABRA6, FOLH1, CACNB3, BRCA1, AKAP5, NEU1
3MP:00036316.4ALDH5A1, BRCA1, CACNB3, FOLH1, GABRA6, AKAP5

Publications for Canavan Disease

Sources:
51PubMed
See all sources

Articles related to Canavan Disease:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Astroglial Redistribution of Aquaporin 4 During Spongy Degeneration in a Canavan Disease Mouse Model. (24272958)
2013
2
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. (22468686)
2012
3
A mutation of aspartoacylase gene in a Turkish patient with Canavan disease. (22611636)
2012
4
Long-term follow-up after gene therapy for canavan disease. (23253610)
2012
5
Canavan disease: a novel mutation. (21907889)
2011
6
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease. (20464498)
2010
7
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
8
Upregulation of N-acetylaspartic acid resulting nitric oxide toxicity induces aspartoacylase mutations and protein interaction to cause pathophysiology seen in Canavan disease. (20673702)
2010
9
Are astrocytes the missing link between lack of brain aspartoacylase activity and the spongiform leukodystrophy in Canavan disease? (19319678)
2009
10
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
11
Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease. (19739253)
2009
12
Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease. (18070137)
2008
13
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. (18978679)
2008
14
Restricted diffusion in Canavan disease. (17219235)
2007
15
Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. (17027983)
2006
16
Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. (17177147)
2006
17
Canavan disease: a white matter disorder. (16807907)
2006
18
Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease. (16669630)
2006
19
Preimplantation genetic diagnosis of Canavan disease. (16113575)
2005
20
Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. (15784740)
2005
21
Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease. (15857674)
2005
22
Carrier screening for Canavan disease in Australia. (15243987)
2004
23
Mouse neural progenitor cells differentiate into oligodendrocytes in the brain of a knockout mouse model of Canavan disease. (15464214)
2004
24
Canavan disease: diffusion magnetic resonance imaging findings. (12544239)
2003
25
Characterisation of the 1H and 13C NMR spectra of N-acetylaspartylglutamate and its detection in urine from patients with Canavan disease. (12615232)
2003
26
Canavan disease prenatal diagnosis and genetic counseling. (12108830)
2002
27
Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease. (12487123)
2002
28
Canavan disease: a review of recent developments. (11589315)
2001
29
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
30
Knock-out mouse for Canavan disease: a model for gene transfer to the central nervous system. (10894262)
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
Prenatal diagnosis of Canavan disease. (10419617)
1999
34
ACOG committee opinion. Screening for canavan disease. Number 212, November 1998. Committee on Genetics. American College of Obstetricians and Gynecologists. (10390111)
1999
35
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
36
The clinical course of Canavan disease. (9568915)
1998
37
Canavan disease--an expanded role for dentists. (9680922)
1998
38
Use of localized proton nuclear magnetic resonance spectroscopy in Canavan's disease. (10028864)
1998
39
Missense mutation (I143T) in a Japanese patient with Canavan disease. (9452117)
1998
40
Canavan disease: diagnosis and molecular analysis. (10464621)
1997
41
Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. (8877604)
1996
42
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. (7485179)
1995
43
Primary intracranial atypical teratoid/rhabdoid tumor in a child with Canavan disease. (7619723)
1995
44
Detection of increased urinary N-acetylaspartylglutamate in Canavan disease. (7957376)
1994
45
Cholelithiasis in Canavan disease. (8515536)
1993
46
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. (8252036)
1993
47
A case of Canavan disease: the first biochemically proven case in a Japanese girl. (8279652)
1993
48
Canavan disease: value of N-acetylaspartic aciduria? (1857492)
1991
49
Canavan disease: CT and MR imaging of the brain. (2114773)
1990
50
N-acetylaspartic aciduria in Canavan disease: another proof in two infants. (2234319)
1990

Genetic Variations for Canavan Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Canavan Disease:

63 (show all 29)
id Symbol AA change Variation 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

Expression for genes affiliated with Canavan Disease

Sources:
1BioGPS, 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

Sources:
38NCBI BioSystems Database, 54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Canavan Disease

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Canavan Disease according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1n-acetyl-aspartyl-glutamate4510.4FOLH1, ASPA
2n-acetylaspartate4510.3FOLH1, ASPA
3selective serotonin reuptake inhibitors5010.2GRIA3, GABRA6
4vigabatrin45 29 1112.1GLUD1, ALDH5A1
5gamma-hydroxybutyrate4510.1GLUD1, ALDH5A1
6monoethylglycinexylidide4510.1GPT, GLUD1
7antidepressants5010.1GABRA6, GRIA3
8amantadine45 1111.1GPT, NEU1
9pentobarbital45 1111.0GRIA3, GABRA6
10venlafaxine50 45 11 2413.0GRIA3, GABRA6
11isoniazid50 45 1111.9GPT, NEU1
12L-Aspartic Acid11 2410.8ASPA, ACY3, GLUD1
13nh4cl459.7NEU1, BRCA1
14acetyl-coa45 2410.7ASPA, GLUD1, BRCA1
15glycerol45 11 2411.7BRCA1, NEU1, GLUD1
16succinate459.6ALDH5A1, SLC13A3, GLUD1
17nmda45 2910.6GLUD1, GRIA3, AKAP5, FOLH1
18succinic acid29 11 2411.6ALDH5A1, SLC13A3
19gaba459.5GABRA6, GRIA3, GLUD1, ALDH5A1
20glutamine459.4BRCA1, GLUD1, GPT, ALDH5A1
21alpha-ketoglutarate459.3GLUD1, GPT, SLC13A3, ALDH5A1
22alanine459.2BRCA1, FOLH1, GLUD1, GPT, ALDH5A1
23aspartate458.8FOLH1, GLUD1, GPT, SLC1A6, ASPA
24l-glutamic acid29 11 2410.8SLC1A6, GPT, GLUD1, GRIA3, FOLH1
25glutamate458.0FOLH1, AKAP5, GRIA3, GLUD1, GPT, SLC1A6

GO Terms for genes affiliated with Canavan Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cellular amino acid biosynthetic processGO:0086529.8GPT, GLUD1
2glutamine metabolic processGO:0065419.6ALDH5A1, GLUD1
3synaptic transmissionGO:0072687.7ALDH5A1, CACNB3, GABRA6, AKAP5, GRIA3, SLC1A6

Molecular functions related to Canavan Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hydrolase activity, acting on ester bondsGO:0167889.8ASPA, ACY3
2aminoacylase activityGO:0040469.5ASPA, ACY3

Products for genes affiliated with Canavan Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Canavan Disease

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet