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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple system atrophy
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Accession:DOID:4752 term browser browse the term
Definition:A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
Synonyms:exact_synonym: Multisystem Atrophies;   Multisystem Atrophy;   multiple system atrophies;   multiple system atrophy syndrome;   multisystemic atrophies;   multisystemic atrophy
 primary_id: MESH:D019578
 alt_id: RDO:0003219
 xref: GARD:7079;   NCI:C84909;   NCI:C85066
For additional species annotation, visit the Alliance of Genome Resources.


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multiple system atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ambra1 autophagy and beclin 1 regulator 1 JBrowse link NW_004936562 2,493,823 2,676,868 RGD:9068941
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link NW_004936738 1,354,424 1,371,497 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004936735 209,369 234,582 RGD:9068941
G Gdnf glial cell derived neurotrophic factor JBrowse link NW_004936518 4,291,391 4,310,752 RGD:9068941
G Igf2 insulin like growth factor 2 JBrowse link NW_004936816 972,902 981,232 RGD:9068941
G Klk6 kallikrein related peptidase 6 JBrowse link NW_004936889 621,645 628,454 RGD:9068941
G Mt3 metallothionein 3 JBrowse link NW_004936475 8,864,512 8,866,516 RGD:9068941
G Slc1a1 solute carrier family 1 member 1 JBrowse link NW_004936503 613,250 690,555 RGD:9068941
G Slc6a6 solute carrier family 6 member 6 JBrowse link NW_004936602 233,753 274,982 RGD:9068941
G Snca synuclein alpha JBrowse link NW_004936685 2,077,017 2,175,298 RGD:9068941
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link NW_004936524 1,569,610 1,582,103 RGD:9068941
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link NW_004936594 744,531 753,350 RGD:9068941
Shy-Drager Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link NW_004936738 1,354,424 1,371,497 RGD:9068941
G Mapt microtubule associated protein tau JBrowse link NW_004936541 2,381,411 2,479,984 RGD:9068941
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link NW_004936558 4,127,477 4,188,307 RGD:7240710
RGD:9068941
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 NW_004936683 1,224,703 1,326,761 RGD:9068941
G Amer1 APC membrane recruitment protein 1 JBrowse link NW_004936635 3,465,473 3,482,311 RGD:9068941
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link NW_004936809 396,883 466,372 RGD:7240710
RGD:9068941
G Atp7a ATPase copper transporting alpha JBrowse link NW_004936683 2,874,022 2,936,214 RGD:9068941
G Nhsl2 NHS like 2 JBrowse link NW_004936959 78,505 97,228 RGD:9068941
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link NW_004936762 1,657,778 1,766,592 RGD:9068941
G Rtl9 retrotransposon Gag like 9 JBrowse link NW_004936499 4,771,535 4,782,768 RGD:9068941
striatonigral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup62 nucleoporin 62 JBrowse link NW_004936664 3,690,728 3,713,819 RGD:9068941
G Pde8b phosphodiesterase 8B JBrowse link NW_004936549 5,212,693 5,450,195 RGD:9068941
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vac14 VAC14 component of PIKFYVE complex JBrowse link NW_004936475 22,842,333 22,944,680 RGD:7240710
RGD:9068941
Striatonigral Degeneration, Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4i1 interleukin 4 induced 1 JBrowse link NW_004936664 3,674,612 3,715,036 RGD:9068941
G Nup62 nucleoporin 62 JBrowse link NW_004936664 3,690,728 3,713,819 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11368
    syndrome 4466
      multiple system atrophy 25
        Multiple System Atrophy (MSA) with Orthostatic Hypotension 0
        Shy-Drager Syndrome 2
        olivopontocerebellar atrophy + 10
        striatonigral degeneration + 4
Path 2
Term Annotations click to browse term
  disease 11368
    disease of anatomical entity 11036
      nervous system disease 8876
        central nervous system disease 7140
          brain disease 6654
            movement disease 885
              multiple system atrophy 25
                Multiple System Atrophy (MSA) with Orthostatic Hypotension 0
                Shy-Drager Syndrome 2
                olivopontocerebellar atrophy + 10
                striatonigral degeneration + 4
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.