MCID: CNV004
MIFTS: 68

Canavan Disease malady

Neuronal diseases, Metabolic diseases categories

Summaries for Canavan Disease

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Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 retinitis pigmentosa/retinal pigmentary changes, optic nerve anomaly/optic atrophy/anomaly of the papilla and obnubilation/coma/lethargia/desorientation. 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

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 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

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Canavan Disease:



Diseases related to canavan disease

Clinical Features for Canavan Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

271900

Clinical synopsis from OMIM:

271900

Symptoms:

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

Drugs & Therapeutics for Canavan Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Canavan Disease:

32
Brain, Testes, Skin

Animal Models for Canavan Disease or affiliated genes

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Sources:
36MGI
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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

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Sources:
50PubMed
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Articles related to Canavan Disease:

(show top 50)    (show all 149)
idTitleAuthorsYear
1
Radiological clue to diagnosis of Canavan disease. (22660905)
2013
2
A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists? (22676184)
2013
3
Canavan disease, a rare early-onset human spongiform leukodystrophy: insights into its genesis and possible clinical interventions. (23151389)
2013
4
Expression of aspartoacylase (ASPA) and Canavan disease. (22750302)
2012
5
Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation. (22019069)
2011
6
Teaching NeuroImages: honeycomb appearance of the brain in a patient with Canavan disease. (21444896)
2011
7
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease. (20034825)
2010
8
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
9
Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease. (17999961)
2008
10
Canavan disease or N-acetyl aspartic aciduria: a case report]. (17196380)
2007
11
Defective myelin lipid synthesis as a pathogenic mechanism of Canavan disease. (16802710)
2006
12
Case 99: Canavan disease. (16990683)
2006
13
Canavan disease and the role of N-acetylaspartate in myelin synthesis. (16647192)
2006
14
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. (16138249)
2005
15
Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease. (15851013)
2005
16
Effect of topiramate on enlargement of head in Canavan disease: a new option for treatment of megalencephaly. (15074377)
2004
17
Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay. (14699612)
2004
18
Mental retardation and hypotonia seen in the knock out mouse for Canavan disease is not due to succinate semialdehyde dehydrogenase deficiency. (15016427)
2004
19
Ultrasound findings in follow-up investigations in a case of aspartoacylase deficiency (canavan disease). (12776232)
2003
20
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. (12638939)
2002
21
Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease. (12205125)
2002
22
The effects of lithium chloride and other substances on levels of brain N-acetyl-L-aspartic acid in Canavan disease-like rats. (12064356)
2002
23
Upper airway abnormalities in Canavan disease. (12443821)
2002
24
Canavan disease (aspartoacylase deficiency)]. (11596340)
2001
25
Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease. (10894213)
2000
26
Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease. (10701101)
2000
27
Gene therapy for Canavan disease? (10894210)
2000
28
Recent advances in Canavan disease. (10645473)
1999
29
Global CNS gene transfer for a childhood neurogenetic enzyme deficiency: Canavan disease. (11713764)
1999
30
Biochemistry and molecular biology of Canavan disease. (10227683)
1999
31
Prenatal diagnosis of Canavan disease--problems and dilemmas. (10384383)
1999
32
Novel missense mutation (Y231C) in a Turkish patient with Canavan disease. (10564886)
1999
33
Molecular water pumps and the aetiology of Canavan disease: a case of the sorcerer's apprentice. (10234603)
1999
34
Molecular basis of Canavan disease. (10724099)
1998
35
Canavan disease: molecular basis of aspartoacylase deficiency. (7528829)
1994
36
Canavan disease: mutations among Jewish and non-Jewish patients. (8023850)
1994
37
Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. (8088831)
1994
38
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis. (7707689)
1994
39
Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts. (7707699)
1994
40
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. (8295397)
1993
41
Protracted clinical course for patients with Canavan disease. (8335152)
1993
42
Canavan Disease (20301412)
1993
43
Prenatal diagnosis of Canavan disease. (1505585)
1992
44
Biochemical diagnosis of Canavan disease. (1288858)
1992
45
Canavan disease: value of N-acetylaspartic aciduria? (1857492)
1991
46
Prenatal detection of Canavan disease. (1672203)
1991
47
Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency. (1936635)
1991
48
Stable isotope dilution analysis of N-acetylaspartic acid in CSF, blood, urine and amniotic fluid: accurate postnatal diagnosis and the potential for prenatal diagnosis of Canavan disease. (1779610)
1991
49
Aspartoacylase deficiency and Canavan disease in Saudi Arabia. (2309767)
1990
50
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. (2774002)
1989

Genetic Variations for Canavan Disease

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Sources:
62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
37NCBI BioSystems Database, 53Reactome, 29KEGG
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Compounds for genes affiliated with Canavan Disease

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44Novoseek, 49PharmGKB, 28IUPHAR, 11DrugBank, 24HMDB
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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

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Canavan Disease

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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