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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Canavan disease
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Accession:DOID:3613 term browser browse the term
Definition:A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)
Synonyms:exact_synonym: ACY2 Deficiency;   ASP Deficiency;   ASPA Deficiency;   Aminoacylase 2 Deficiency;   Aspartoacylase Deficiency;   Aspartoacylase Deficiency Disease;   Canavan Disease, Familial Form;   Canavan Disease, Mild;   Canavan Disease, Sporadic Form;   Canavan van Bogaert Bertrand Disease;   Familial Form of Canavan Disease;   Infantile Canavan Disease;   Juvenile Canavan Disease;   Neonatal Canavan Disease;   Spongiform Leukodystrophy;   Spongy Degeneration Of Central Nervous System;   Spongy Degeneration of Infancy;   Spongy Degeneration of White Matter In Infancy;   Spongy Degeneration of the Brain;   Spongy Degeneration of the Central Nervous System;   Spongy Disease of Central Nervous System;   Spongy Disease of White Matter;   Sporadic Form of Canavan Disease;   Type I Canavan Disease;   Type II Canavan Disease;   Type III Canavan Disease;   Van Bogaert Bertrand Syndrome;   Von Bogaert Bertrand Disease
 primary_id: MESH:D017825
 alt_id: OMIM:271900;   RDO:0007085
 xref: GARD:5984;   NCI:C84611
For additional species annotation, visit the Alliance of Genome Resources.


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Canavan disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspa aspartoacylase susceptibility ISO
IAGP
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar Annotator: match by OMIM:271900
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 PMID:8252036 PMID:8659549 PMID:9452117 PMID:9887384 PMID:10407784 PMID:10564886 PMID:10701101 PMID:10704428 PMID:10724099 PMID:10909858 PMID:11238686 PMID:12205125 PMID:12638939 PMID:14567959 PMID:15243987 PMID:16138249 PMID:16217711 PMID:16437572 PMID:16802711 PMID:16854607 PMID:17027983 PMID:17194761 PMID:17391648 PMID:17999961 PMID:18070137 PMID:18978679 PMID:19685155 PMID:20129749 PMID:20301412 PMID:21228398 PMID:21520333 PMID:21907889 PMID:22019069 PMID:22219087 PMID:22611636 PMID:22750302 PMID:22850825 PMID:22878930 PMID:23233226 PMID:23253610 PMID:23971085 PMID:24033266 PMID:25003821 PMID:25107638 PMID:25741868 PMID:26586007 PMID:26992473 PMID:27457812 PMID:27531131 PMID:27927234 PMID:28101991 PMID:28492532, PMID:8252036, PMID:15857674 RGD:1599291, RGD:1599298 NCBI chr10:59,839,693...59,888,244
Ensembl chr10:59,839,852...59,892,960
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr 8:61,532,465...61,567,510
Ensembl chr 8:61,532,465...61,567,510
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,749,250...59,772,475
Ensembl chr10:59,749,256...59,764,868
JBrowse link
G Emc6 ER membrane protein complex subunit 6 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,741,772...59,743,338
Ensembl chr10:59,741,772...59,743,315
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr16:10,661,486...10,695,557
Ensembl chr16:10,662,021...10,695,557
JBrowse link
G Haspin histone H3 associated protein kinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,695,403...59,698,398
Ensembl chr10:59,695,913...59,698,168
JBrowse link
G Itgae integrin subunit alpha E ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,652,324...59,711,885
Ensembl chr10:59,539,405...59,711,874
JBrowse link
G P2rx5 purinergic receptor P2X 5 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,725,438...59,737,126
Ensembl chr10:59,725,398...59,737,126
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,765,328...59,789,676
Ensembl chr10:59,765,258...59,789,678
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Spata22 spermatogenesis associated 22 ISO ClinVar Annotator: match by term: Canavan Disease
ClinVar Annotator: match by term: Spongy degeneration of central nervous system
ClinVar PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 PMID:8252036 PMID:8659549 PMID:9452117 PMID:9887384 PMID:10407784 PMID:10564886 PMID:10701101 PMID:10704428 PMID:10724099 PMID:10909858 PMID:11238686 PMID:12205125 PMID:12638939 PMID:14567959 PMID:15243987 PMID:16138249 PMID:16217711 PMID:16437572 PMID:16802711 PMID:16854607 PMID:17027983 PMID:17194761 PMID:17391648 PMID:17999961 PMID:18070137 PMID:18978679 PMID:19685155 PMID:20129749 PMID:20301412 PMID:21228398 PMID:21520333 PMID:21907889 PMID:22019069 PMID:22219087 PMID:22611636 PMID:22750302 PMID:22850825 PMID:22878930 PMID:23233226 PMID:23253610 PMID:23971085 PMID:24033266 PMID:25003821 PMID:25107638 PMID:25741868 PMID:26586007 PMID:26992473 PMID:27457812 PMID:27531131 PMID:27927234 PMID:28101991 PMID:28492532 NCBI chr10:59,893,064...59,910,769
Ensembl chr10:59,879,850...59,911,051
JBrowse link
G Tax1bp3 Tax1 binding protein 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,743,356...59,748,063
Ensembl chr10:59,743,544...59,748,062
JBrowse link
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,799,123...59,824,208
Ensembl chr10:59,799,123...59,824,679
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:10909858 PMID:28492532 NCBI chr10:59,829,755...59,863,780
Ensembl chr10:59,831,241...59,860,987
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        neurodegenerative disease 3220
          Nervous System Heredodegenerative Disorders 1911
            Canavan disease 14
Path 2
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5728
            autosomal genetic disease 4877
              autosomal recessive disease 2677
                Canavan disease 14
paths to the root