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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 2 15,935,354 16,119,082 RGD:9068941
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 8 135,130,486 135,150,428 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 14 100,927,305 100,954,781 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 16 22,936,602 22,965,929 RGD:9068941
G IGF2 insulin like growth factor 2 JBrowse link 2 1,469,183 1,496,417 RGD:9068941
G KLK6 kallikrein related peptidase 6 JBrowse link 6 55,629,983 55,639,215 RGD:9068941
G MIR96 microRNA mir-96 JBrowse link 18 18,982,506 18,982,590 RGD:9068941
G MT3 metallothionein 3 JBrowse link 6 18,634,735 18,636,134 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 1 217,366,493 217,441,643 RGD:9068941
G SLC6A6 solute carrier family 6 member 6 JBrowse link 13 70,094,073 70,173,581 RGD:9068941
G SNCA synuclein alpha JBrowse link 8 129,247,724 129,388,307 RGD:9068941
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ND6 NADH dehydrogenase subunit 6 JBrowse link MT 14,739 15,266 RGD:9068941
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 10 33,470,089 33,495,584 RGD:9068941
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 12 5,847,170 5,855,791 RGD:9068941
Shy-Drager Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AVP arginine vasopressin JBrowse link 17 32,581,234 32,583,145 RGD:9068941
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 8 135,130,486 135,150,428 RGD:9068941
G MAPT microtubule associated protein tau JBrowse link 12 17,098,259 17,211,483 RGD:9068941
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATXN2 ataxin 2 JBrowse link 14 32,656,537 32,772,082 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 X 60,186,559 60,313,098 RGD:9068941
G AMER1 APC membrane recruitment protein 1 JBrowse link X 50,842,049 50,864,105 RGD:9068941
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 124,318,874 124,357,653 RGD:7240710
RGD:9068941
G ATP7A ATPase copper transporting alpha JBrowse link X 61,972,544 62,110,058 RGD:9068941
G NHSL2 NHS like 2 JBrowse link X 57,741,172 58,028,266 RGD:9068941
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 58,456,097 58,583,216 RGD:9068941
G RTL9 retrotransposon Gag like 9 JBrowse link X 90,553,099 90,565,001 RGD:9068941
striatonigral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP62 nucleoporin 62 JBrowse link 6 54,921,627 54,945,705 RGD:9068941
G PDE8B phosphodiesterase 8B JBrowse link 2 86,007,190 86,323,796 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 6 13,683,800 13,791,246 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 6 54,906,401 54,945,840 RGD:9068941
G NUP62 nucleoporin 62 JBrowse link 6 54,921,627 54,945,705 RGD:7240710
RGD:9068941
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11966
    syndrome 4651
      multiple system atrophy 29
        Multiple System Atrophy (MSA) with Orthostatic Hypotension 0
        Shy-Drager Syndrome 3
        olivopontocerebellar atrophy + 10
        striatonigral degeneration + 6
Path 2
Term Annotations click to browse term
  disease 11966
    disease of anatomical entity 11621
      nervous system disease 9313
        central nervous system disease 7501
          brain disease 6998
            movement disease 924
              multiple system atrophy 29
                Multiple System Atrophy (MSA) with Orthostatic Hypotension 0
                Shy-Drager Syndrome 3
                olivopontocerebellar atrophy + 10
                striatonigral degeneration + 6
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.