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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_004955422 1,455,392 1,644,368 RGD:9068941
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link NW_004955474 6,403,409 6,422,135 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Gdnf glial cell derived neurotrophic factor JBrowse link NW_004955426 22,386,613 22,412,324 RGD:9068941
G Igf2 insulin like growth factor 2 JBrowse link NW_004955422 13,880,525 13,907,963 RGD:9068941
G Klk6 kallikrein related peptidase 6 JBrowse link NW_004955558 1,501,806 1,509,461 RGD:9068941
G Slc1a1 solute carrier family 1 member 1 JBrowse link NW_004955434 8,790,685 8,879,757 RGD:9068941
G Slc6a6 solute carrier family 6 member 6 JBrowse link NW_004955429 17,097,753 17,130,079 RGD:9068941
G Snca synuclein alpha JBrowse link NW_004955405 854,011 962,741 RGD:9068941
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link NW_004955472 2,645,716 2,664,394 RGD:9068941
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link NW_004955553 2,367,476 2,376,704 RGD:9068941
Shy-Drager Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coq2 coenzyme Q2, polyprenyltransferase JBrowse link NW_004955474 6,403,409 6,422,135 RGD:9068941
G Mapt microtubule associated protein tau JBrowse link NW_004955478 10,222,439 10,271,439 RGD:9068941
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link NW_004955482 8,101,410 8,187,815 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_004955562 1,079,884 1,220,806 RGD:9068941
G Amer1 APC membrane recruitment protein 1 JBrowse link NW_004955475 4,451,094 4,470,750 RGD:9068941
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link NW_004955580 286,092 332,657 RGD:7240710
RGD:9068941
G Atp7a ATPase copper transporting alpha JBrowse link NW_004955557 1,355,471 1,515,725 RGD:9068941
G Nhsl2 NHS like 2 JBrowse link NW_004955475 11,208,632 11,523,215 RGD:9068941
G Phka1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link NW_004955475 12,020,278 12,172,427 RGD:9068941
G Rtl9 retrotransposon Gag like 9 JBrowse link NW_004955490 5,409,277 5,420,508 RGD:9068941
striatonigral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup62 nucleoporin 62 JBrowse link NW_004955559 1,012,919 1,033,465 RGD:9068941
G Pde8b phosphodiesterase 8B JBrowse link NW_004955425 23,512,865 23,614,326 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_004955484 3,451,187 3,557,471 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_004955559 1,012,634 1,047,051 RGD:9068941
G Nup62 nucleoporin 62 JBrowse link NW_004955559 1,012,919 1,033,465 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11239
    syndrome 4441
      multiple system atrophy 24
        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 11239
    disease of anatomical entity 10905
      nervous system disease 8756
        central nervous system disease 7054
          brain disease 6568
            movement disease 877
              multiple system atrophy 24
                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.