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ONTOLOGY REPORT - ANNOTATIONS


Term:olivopontocerebellar atrophy
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Accession:DOID:14784 term browser browse the term
Definition:A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Synonyms:exact_synonym: Dejerine Thomas syndrome;   Familial Olivopontocerebellar Atrophies;   Familial Olivopontocerebellar Atrophy;   Idiopathic Olivopontocerebellar Atrophies;   Idiopathic Olivopontocerebellar Atrophy;   Inherited Olivopontocerebellar Atrophies;   Inherited Olivopontocerebellar Atrophy;   Nonfamilial Olivopontocerebellar Atrophies;   Nonfamilial Olivopontocerebellar Atrophy;   Olivo Ponto Cerebellar Atrophy;   Olivo Ponto Cerebellar Degeneration;   Olivo-Ponto-Cerebellar Degenerations;   Olivopontocerebellar Degeneration;   Olivopontocerebellar Degenerations;   Olivopontocerebellar Hypoplasia;   Pontoolivocerebellar Atrophies;   Pontoolivocerebellar Atrophy;   Presenile Ataxia;   Thomas' syndrome;   WADIA-SWAMI SYNDROME;   olivopontocerebellar atrophies;   presenile ataxias
 primary_id: MESH:D009849;   RDO:0002378
 xref: NCI:C84947
For additional species annotation, visit the Alliance of Genome Resources.


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olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 5 56,987,714 57,009,481 RGD:10054301
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 10 104,358,401 104,366,926 RGD:8554872
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 12 40,264,601 40,335,637 RGD:7240710
RGD:8554872
Spinocerebellar Ataxia, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP binding cassette subfamily B member 7 JBrowse link X 75,150,511 75,291,950 RGD:8554872
G Amer1 APC membrane recruitment protein 1 JBrowse link X 64,686,620 64,702,504 RGD:8554872
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 157,236,400 157,312,028 RGD:7240710
RGD:8554872
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:8554872
G Nhsl2 NHS-like 2 JBrowse link X 71,895,202 71,980,019 RGD:8554872
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,377,020 72,515,385 RGD:8554872
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      multiple system atrophy 29
        olivopontocerebellar atrophy 10
          Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
          Olivopontocerebellar Atrophy 1 0
          Olivopontocerebellar Atrophy 3 0
          Olivopontocerebellar Atrophy II, Autosomal Recessive 0
          Olivopontocerebellar Atrophy V 0
          Spinocerebellar Ataxia, X-Linked 1 7
          Spinocerebellar Atrophy with Pupillary Paralysis 0
          spinocerebellar ataxia type 2 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              multiple system atrophy 29
                olivopontocerebellar atrophy 10
                  Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
                  Olivopontocerebellar Atrophy 1 0
                  Olivopontocerebellar Atrophy 3 0
                  Olivopontocerebellar Atrophy II, Autosomal Recessive 0
                  Olivopontocerebellar Atrophy V 0
                  Spinocerebellar Ataxia, X-Linked 1 7
                  Spinocerebellar Atrophy with Pupillary Paralysis 0
                  spinocerebellar ataxia type 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.