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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/beclin 1 regulator 1 JBrowse link 2 91,730,138 91,918,849 RGD:14390070
G Coq2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase JBrowse link 5 100,654,723 100,674,288 RGD:11554173
G Fas Fas (TNF receptor superfamily member 6) JBrowse link 19 34,290,647 34,327,775 RGD:8663486
G Gdnf glial cell line derived neurotrophic factor JBrowse link 15 7,810,048 7,837,580 RGD:5688775
G Igf2 insulin-like growth factor 2 JBrowse link 7 142,650,768 142,666,816 RGD:5509960
G Klk6 kallikrein related-peptidase 6 JBrowse link 7 43,824,438 43,832,027 RGD:1358597
G Mir96 microRNA 96 JBrowse link 6 30,169,446 30,169,551 RGD:11553929
G Mt3 metallothionein 3 JBrowse link 8 94,152,607 94,154,148 RGD:6480516
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 JBrowse link 19 28,835,135 28,913,960 RGD:11553929
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 JBrowse link 6 91,684,048 91,759,063 RGD:11553929
G Snca synuclein, alpha JBrowse link 6 60,731,573 60,829,855 RGD:6480091
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G mt-Nd6 NADH dehydrogenase 6, mitochondrial JBrowse link MT 13,552 14,070 RGD:8554872
olivopontocerebellar atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aptx aprataxin JBrowse link 4 40,682,078 40,721,667 RGD:10054301
G Tsen54 tRNA splicing endonuclease subunit 54 JBrowse link 11 115,813,728 115,823,102 RGD:8554872
Shy-Drager Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Avp arginine vasopressin JBrowse link 2 130,580,620 130,582,588 RGD:11554173
G Coq2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase JBrowse link 5 100,654,723 100,674,288 RGD:8554872
G Mapt microtubule-associated protein tau JBrowse link 11 104,229,409 104,332,090 RGD:8554872
spinocerebellar ataxia type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atxn2 ataxin 2 JBrowse link 5 121,711,609 121,814,950 RGD:13592920
RGD:8554872
RGD:7240710
Spinocerebellar Ataxia, X-Linked 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abcb7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 JBrowse link X 104,280,565 104,413,846 RGD:8554872
G Amer1 APC membrane recruitment 1 JBrowse link X 95,420,313 95,444,840 RGD:8554872
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 JBrowse link X 73,502,749 73,573,275 RGD:7240710
RGD:8554872
G Atp7a ATPase, Cu++ transporting, alpha polypeptide JBrowse link X 106,027,224 106,128,161 RGD:8554872
G Nhsl2 NHS-like 2 JBrowse link X 101,849,261 102,092,055 RGD:8554872
G Phka1 phosphorylase kinase alpha 1 JBrowse link X 102,513,975 102,644,301 RGD:8554872
G Rtl9 retrotransposon Gag like 9 JBrowse link X 143,058,276 143,105,330 RGD:8554872
striatonigral degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nup62 nucleoporin 62 JBrowse link 7 44,816,088 44,831,836 RGD:13592920
G Pde8b phosphodiesterase 8B JBrowse link 13 95,024,105 95,250,401 RGD:13592920
Striatonigral Degeneration, Childhood-Onset term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vac14 Vac14 homolog (S. cerevisiae) JBrowse link 8 110,618,529 110,720,398 RGD:8554872
RGD:7240710
Striatonigral Degeneration, Infantile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Il4i1 interleukin 4 induced 1 JBrowse link 7 44,836,288 44,840,809 RGD:8554872
G Nup62 nucleoporin 62 JBrowse link 7 44,816,088 44,831,836 RGD:7240710
RGD:8554872
Striatonigral Degeneration, Infantile, Mitochondrial term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G mt-Atp6 ATP synthase 6, mitochondrial JBrowse link MT 7,927 8,607 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12522
    syndrome 4807
      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 12522
    disease of anatomical entity 12141
      nervous system disease 9641
        central nervous system disease 7759
          brain disease 7245
            movement disease 956
              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.