MCID: CNV004
MIFTS: 68

Canavan Disease malady

Neuronal diseases, Metabolic diseases categories

Summaries for Canavan Disease

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
NIH Rare Diseases:42 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 succinic semialdehyde dehydrogenase deficiency and brain 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 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, testes and skin, 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:43 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:63 Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, aspartoacylase deficiency or... more...

Description from OMIM:46 271900

GeneReviews summary for canavan

Aliases & Classifications for Canavan Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
canavan disease:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy; Age of death: Child / adolescent


Aliases & Descriptions:

canavan disease 8 9 63 19 42 20 21 43 46 10 44 48 60
aspartoacylase deficiency 63 19 42 21 48
spongy degeneration of central nervous system 8 63 22 21
aminoacylase 2 deficiency 63 42 21 48
acy2 deficiency 63 42 21 48
aspa deficiency 63 19 42 21
spongy degeneration of the brain 63 21 48
asp deficiency 63 42 21
spongy degeneration of white matter in infancy 63 21
canavan-van bogaert-bertrand disease 8 21
van bogaert-bertrand syndrome 63 21
von bogaert-bertrand disease 63 21
leukodystrophy, spongiform 63 21


External Ids:

Disease Ontology8 DOID:3613
MeSH34 D017825
OMIM46 271900
NCIt39 C84611
SNOMED-CT56 80544005
MESH via Orphanet35 D017825
ICD10 via Orphanet26 E75.2
SNOMED-CT via Orphanet57 80544005
UMLS via Orphanet61 C0206307

Related Diseases for Canavan Disease

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

Graphical network of the top 20 diseases related to Canavan Disease:



Diseases related to canavan disease

Clinical Features for Canavan Disease

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

271900

Clinical synopsis from OMIM:

271900

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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:
32MalaCards
See all sources

MalaCards organs/tissues related to Canavan Disease:

32
Brain, Testes, Skin

Animal Models for Canavan Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Canavan Disease:

36
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

About this section
Sources:
50PubMed
See all sources

Articles related to Canavan Disease:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Relationship between enzyme properties and disease progression in Canavan disease. (22850825)
2013
2
Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan disease. (24288037)
2013
3
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
4
A novel aspartoacylase (ASPA) gene mutation in Canavan disease. (22468686)
2012
5
Canavan disease: a novel mutation. (21907889)
2011
6
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
7
Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease. (20393311)
2010
8
Long term clinical course of Canavan disease--a rare Japanese case]. (19764455)
2009
9
Lack of aspartoacylase activity disrupts survival and differentiation of neural progenitors and oligodendrocytes in a mouse model of Canavan disease. (19739253)
2009
10
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease. (18978679)
2008
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
Does ASPA gene mutation in Canavan disease alter oligodendrocyte development? A tissue culture study of ASPA KO mice brain. (16802712)
2006
15
Natural history of Canavan disease revealed by proton magnetic resonance spectroscopy (1H-MRS) and diffusion-weighted MRI. (17177147)
2006
16
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease. (16854607)
2006
17
Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease. (16669630)
2006
18
Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease. (16802711)
2006
19
Progress toward acetate supplementation therapy for Canavan disease: glyceryl triacetate administration increases acetate, but not N-acetylaspartate, levels in brain. (16002461)
2005
20
Absolute configuration of N-acetylaspartate in urine from patients with Canavan disease. (15902566)
2005
21
Atypical MRI findings in Canavan disease: a patient with a mild course. (16217711)
2005
22
Rapid and sensitive screening for and chemical diagnosis of Canavan disease by gas chromatography-mass spectrometry. (15149608)
2004
23
Canavan disease: a monogenic trait with complex genomic interaction. (14567959)
2003
24
Aspartoacylase is restricted primarily to myelin synthesizing cells in the CNS: therapeutic implications for Canavan disease. (12487123)
2002
25
Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population. (10909858)
2000
26
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
27
N-acetylaspartylglutamate in Canavan disease: an adverse effector? (10333125)
1999
28
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. (10407784)
1999
29
ACOG committee opinion. Screening for canavan disease. Number 212, November 1998. Committee on Genetics. American College of Obstetricians and Gynecologists. (10390111)
1999
30
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
31
Canavan disease (aspartoacylase deficiency)]. (9590077)
1998
32
The clinical course of Canavan disease. (9568915)
1998
33
Canavan disease--an expanded role for dentists. (9680922)
1998
34
Missense mutation (I143T) in a Japanese patient with Canavan disease. (9452117)
1998
35
Identification and expression of eight novel mutations among non- Jewish patients with Canavan disease. (8659549)
1996
36
Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease. (8877604)
1996
37
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population. (7485179)
1995
38
Primary intracranial atypical teratoid/rhabdoid tumor in a child with Canavan disease. (7619723)
1995
39
Magnetic resonance imaging in juvenile Canavan disease. (8223809)
1993
40
Prenatal detection of Canavan disease by measurement of N-acetyl-L-aspartate in amniotic fluid. (8295422)
1993
41
Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. (8252036)
1993
42
First-trimester prenatal diagnosis of Canavan disease. (7609457)
1993
43
Canavan disease: biochemical and molecular studies. (8412017)
1993
44
A case of Canavan disease: the first biochemically proven case in a Japanese girl. (8279652)
1993
45
Prenatal diagnosis of Canavan disease. (1405477)
1992
46
Canavan disease: findings in four new cases. (1886410)
1991
47
CT and MR imaging of Canavan disease. (2107726)
1990
48
N-acetylaspartic aciduria in Canavan disease: another proof in two infants. (2234319)
1990
49
SSIEM Award. Aspartoacylase deficiency: the enzyme defect in Canavan disease. (2512436)
1989
50
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. (3354621)
1988

Genetic Variations for Canavan Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Canavan Disease:

62 (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

Expression for genes affiliated with Canavan Disease

About this section
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

About this section
Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG
See all sources

Compounds for genes affiliated with Canavan Disease

About this section
Sources:
44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
See all sources

Compounds related to Canavan Disease according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1n-acetyl-aspartyl-glutamate4410.4FOLH1, ASPA
2n-acetylaspartate4410.3FOLH1, ASPA
3selective serotonin reuptake inhibitors4910.2GRIA3, GABRA6
4vigabatrin44 28 1112.1GLUD1, ALDH5A1
5gamma-hydroxybutyrate4410.1GLUD1, ALDH5A1
6monoethylglycinexylidide4410.1GPT, GLUD1
7antidepressants4910.1GABRA6, GRIA3
8amantadine44 1111.1GPT, NEU1
9pentobarbital44 1111.0GRIA3, GABRA6
10venlafaxine49 44 11 2413.0GRIA3, GABRA6
11isoniazid49 44 1111.9GPT, NEU1
12L-Aspartic Acid11 2410.8ASPA, ACY3, GLUD1
13nh4cl449.7NEU1, BRCA1
14acetyl-coa44 2410.7ASPA, GLUD1, BRCA1
15glycerol44 11 2411.7BRCA1, NEU1, GLUD1
16succinate449.6ALDH5A1, SLC13A3, GLUD1
17nmda44 2810.6GLUD1, GRIA3, AKAP5, FOLH1
18succinic acid28 11 2411.6ALDH5A1, SLC13A3
19gaba449.5GABRA6, GRIA3, GLUD1, ALDH5A1
20glutamine449.4BRCA1, GLUD1, GPT, ALDH5A1
21alpha-ketoglutarate449.3GLUD1, GPT, SLC13A3, ALDH5A1
22alanine449.2BRCA1, FOLH1, GLUD1, GPT, ALDH5A1
23aspartate448.8FOLH1, GLUD1, GPT, SLC1A6, ASPA
24l-glutamic acid28 11 2410.8SLC1A6, GPT, GLUD1, GRIA3, FOLH1
25glutamate448.0FOLH1, AKAP5, GRIA3, GLUD1, GPT, SLC1A6

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
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Canavan Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet