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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 11 46,396,412 46,594,055 RGD:14390070
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 4 83,263,824 83,285,134 RGD:11554173
G FAS Fas cell surface death receptor JBrowse link 10 88,968,429 89,017,059 RGD:8663486
G GDNF glial cell derived neurotrophic factor JBrowse link 5 37,812,677 37,840,044 RGD:5688775
G IGF2 insulin like growth factor 2 JBrowse link 11 2,129,112 2,149,603 RGD:5509960
G KLK6 kallikrein related peptidase 6 JBrowse link 19 50,958,631 50,969,598 RGD:1358597
G MIR96 microRNA 96 JBrowse link 7 129,774,692 129,774,769 RGD:11553929
G MT3 metallothionein 3 JBrowse link 16 56,589,528 56,591,085 RGD:6480516
G SLC1A1 solute carrier family 1 member 1 JBrowse link 9 4,490,466 4,587,469 RGD:11553929
G SLC6A6 solute carrier family 6 member 6 JBrowse link 3 14,402,576 14,489,349 RGD:11553929
G SNCA synuclein alpha JBrowse link 4 89,724,099 89,838,324 RGD:6480091
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MT-ND6 mitochondrially encoded NADH dehydrogenase 6 JBrowse link MT 14,149 14,673 RGD:8554872
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G APTX aprataxin JBrowse link 9 32,883,872 33,025,120 RGD:10054301
G TSEN54 tRNA splicing endonuclease subunit 54 JBrowse link 17 75,516,528 75,524,735 RGD:8554872
Shy-Drager Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AVP arginine vasopressin JBrowse link 20 3,082,556 3,093,521 RGD:11554173
G COQ2 coenzyme Q2, polyprenyltransferase JBrowse link 4 83,263,824 83,285,134 RGD:8554872
G MAPT microtubule associated protein tau JBrowse link 17 45,894,382 46,028,334 RGD:8554872
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATXN2 ataxin 2 JBrowse link 12 111,452,214 111,599,676 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 75,051,048 75,156,283 RGD:8554872
G AMER1 APC membrane recruitment protein 1 JBrowse link X 64,185,117 64,205,708 RGD:8554872
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 JBrowse link X 153,517,677 153,582,929 RGD:8554872
RGD:7240710
G ATP7A ATPase copper transporting alpha JBrowse link X 77,910,656 78,050,395 RGD:8554872
G NHSL2 NHS like 2 JBrowse link X 71,911,073 72,153,286 RGD:8554872
G PGAM4 phosphoglycerate mutase family member 4 JBrowse link X 77,967,949 77,969,638 RGD:8554872
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 JBrowse link X 72,578,814 72,714,306 RGD:8554872
G RTL9 retrotransposon Gag like 9 JBrowse link X 110,358,101 110,456,334 RGD:8554872
striatonigral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NUP62 nucleoporin 62 JBrowse link 19 49,906,825 49,929,504 RGD:13592920
G PDE8B phosphodiesterase 8B JBrowse link 5 77,180,252 77,429,807 RGD:13592920
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VAC14 VAC14 component of PIKFYVE complex JBrowse link 16 70,687,439 70,801,158 RGD:8554872
RGD:7240710
G VAC14-AS1 VAC14 antisense RNA 1 JBrowse link 16 70,755,095 70,773,251 RGD:8554872
Striatonigral Degeneration, Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL4I1 interleukin 4 induced 1 JBrowse link 19 49,889,654 49,929,504 RGD:8554872
G NUP62 nucleoporin 62 JBrowse link 19 49,906,825 49,929,504 RGD:8554872
RGD:7240710
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MT-ATP6 mitochondrially encoded ATP synthase 6 JBrowse link MT 8,527 9,207 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16404
    syndrome 5472
      multiple system atrophy 31
        Multiple System Atrophy (MSA) with Orthostatic Hypotension 0
        Shy-Drager Syndrome 3
        olivopontocerebellar atrophy + 11
        striatonigral degeneration + 7
Path 2
Term Annotations click to browse term
  disease 16404
    disease of anatomical entity 0
      nervous system disease 11657
        central nervous system disease 9532
          brain disease 8951
            movement disease 1106
              multiple system atrophy 31
                Multiple System Atrophy (MSA) with Orthostatic Hypotension 0
                Shy-Drager Syndrome 3
                olivopontocerebellar atrophy + 11
                striatonigral degeneration + 7
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.