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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
RGD
PMID:7599639 PMID:7668285 PMID:8023850 PMID:8037206 PMID:8088831 More... RGD:1599291, RGD:1599298 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272
JBrowse link
G Cspg4 chondroitin sulfate proteoglycan 4 ISO RGD PMID:19739253 RGD:5686858 NCBI chr 8:57,264,962...57,300,010
Ensembl chr 8:57,264,962...57,300,010
JBrowse link
G Ctns cystinosin, lysosomal cystine transporter ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,801,551...57,817,213
Ensembl chr10:57,801,456...57,817,120
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 chr10:57,794,072...57,795,671
Ensembl chr10:57,793,685...57,796,217
JBrowse link
G Glud1 glutamate dehydrogenase 1 ISO protein:decreased expression:cerebellum, brain stem RGD PMID:15016427 RGD:6484588 NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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 chr10:57,747,731...57,750,532
Ensembl chr10:57,747,573...57,750,512
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 chr10:57,704,813...57,764,093
Ensembl chr10:57,591,753...57,764,093
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 chr10:57,777,737...57,789,426
Ensembl chr10:57,777,819...57,789,423
JBrowse link
G Shpk sedoheptulokinase ISO ClinVar Annotator: match by term: Spongy degeneration of central nervous system ClinVar PMID:7668285 PMID:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,817,551...57,841,981
Ensembl chr10:57,817,629...57,841,980
JBrowse link
G Sod2 superoxide dismutase 2 ISS OMIM:271900 MouseDO NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
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 More... NCBI chr10:57,945,272...57,963,081
Ensembl chr10:57,932,187...57,963,081
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 chr10:57,795,785...57,800,363
Ensembl chr10:57,795,382...57,800,363
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:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,851,428...57,876,513
Ensembl chr10:57,851,428...57,876,513
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:9537412 PMID:10909858 PMID:27102039 PMID:28492532 NCBI chr10:57,883,546...57,915,865
Ensembl chr10:57,883,546...57,913,296
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        neurodegenerative disease 3521
          Nervous System Heredodegenerative Disorders 2133
            Canavan disease 14
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                Canavan disease 14
paths to the root