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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 18 42,903,815 43,073,918 RGD:9068941
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 32 7,143,476 7,162,765 RGD:9068941
G FAS Fas cell surface death receptor JBrowse link 26 38,738,811 38,763,298 RGD:9068941
G GDNF glial cell derived neurotrophic factor JBrowse link 4 70,966,694 70,991,860 RGD:9068941
G IGF2 insulin like growth factor 2 JBrowse link 18 46,294,036 46,311,982 RGD:9068941
G KLK6 kallikrein related peptidase 6 JBrowse link 1 105,902,147 105,907,585 RGD:9068941
G MIR96 microRNA mir-96 JBrowse link 14 7,068,754 7,068,842 RGD:9068941
G SLC1A1 solute carrier family 1 member 1 JBrowse link 1 92,898,274 92,978,260 RGD:9068941
G SLC6A6 solute carrier family 6 member 6 JBrowse link 20 4,544,739 4,616,797 RGD:9068941
G SNCA synuclein alpha JBrowse link 32 12,915,871 13,079,338 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 13,582 14,109 RGD:9068941
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 11 50,111,003 50,155,937 RGD:9068941
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 9 5,009,468 5,016,513 RGD:9068941
Shy-Drager Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AVP arginine vasopressin JBrowse link 24 18,183,057 18,184,827 RGD:9068941
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 32 7,143,476 7,162,765 RGD:9068941
G MAPT microtubule associated protein tau JBrowse link 9 9,572,174 9,674,082 RGD:9068941
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATXN2 ataxin 2 JBrowse link 26 9,073,667 9,188,429 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 58,305,804 58,470,827 RGD:9068941
G AMER1 APC membrane recruitment protein 1 JBrowse link X 49,426,228 49,449,448 RGD:9068941
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 121,355,217 121,405,245 RGD:7240710
RGD:9068941
G ATP7A ATPase copper transporting alpha JBrowse link X 60,203,336 60,356,525 RGD:9068941
G NHSL2 NHS like 2 JBrowse link X 56,078,560 56,203,105 RGD:9068941
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 56,579,538 56,758,293 RGD:9068941
G RTL9 retrotransposon Gag like 9 JBrowse link X 83,639,071 83,650,359 RGD:9068941
striatonigral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP62 nucleoporin 62 JBrowse link 1 106,636,282 106,661,250 RGD:9068941
G PDE8B phosphodiesterase 8B JBrowse link 3 29,289,867 29,432,557 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 5 76,635,931 76,737,414 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 1 106,636,282 106,673,438 RGD:9068941
G NUP62 nucleoporin 62 JBrowse link 1 106,636,282 106,661,250 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 7,964 8,644 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12008
    syndrome 4657
      multiple system atrophy 28
        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 12008
    disease of anatomical entity 11658
      nervous system disease 9345
        central nervous system disease 7525
          brain disease 7026
            movement disease 931
              multiple system atrophy 28
                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.