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ONTOLOGY REPORT - ANNOTATIONS


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
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Canavan disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aspa aspartoacylase JBrowse link 10 59,839,693 59,888,244 RGD:1599291
RGD:8554872
RGD:11554173
RGD:1599298
RGD:7240710
G Cspg4 chondroitin sulfate proteoglycan 4 JBrowse link 8 61,532,465 61,567,510 RGD:5686858
G Ctns cystinosin, lysosomal cystine transporter JBrowse link 10 59,749,250 59,772,475 RGD:8554872
G Emc6 ER membrane protein complex subunit 6 JBrowse link 10 59,741,772 59,743,338 RGD:8554872
G Glud1 glutamate dehydrogenase 1 JBrowse link 16 10,661,486 10,695,557 RGD:6484588
G Haspin histone H3 associated protein kinase JBrowse link 10 59,695,403 59,698,398 RGD:8554872
G Itgae integrin subunit alpha E JBrowse link 10 59,652,324 59,711,885 RGD:8554872
G P2rx5 purinergic receptor P2X 5 JBrowse link 10 59,725,438 59,737,126 RGD:8554872
G Shpk sedoheptulokinase JBrowse link 10 59,765,328 59,789,676 RGD:8554872
G Sod2 superoxide dismutase 2 JBrowse link 1 47,914,757 47,921,587 RGD:13592920
G Spata22 spermatogenesis associated 22 JBrowse link 10 59,893,064 59,910,769 RGD:8554872
G Tax1bp3 Tax1 binding protein 3 JBrowse link 10 59,743,356 59,748,063 RGD:8554872
G Trpv1 transient receptor potential cation channel, subfamily V, member 1 JBrowse link 10 59,799,123 59,824,208 RGD:8554872
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 JBrowse link 10 59,829,755 59,863,780 RGD:8554872

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  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        neurodegenerative disease 2691
          Nervous System Heredodegenerative Disorders 1719
            Canavan disease 15
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal recessive disease 1978
                Canavan disease 15
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