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Term ID: | 7481 |
Name: | Multiple System Atrophy |
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) |
Alternative IDs: | |
ParentIDs: | MESH:D001480|MESH:D009069|MESH:D019636|MESH:D054969 |
TreeNumbers: | C10.177.575.550 |C10.228.140.079.612 |C10.228.662.550 |C10.574.625 |
Synonyms: | Atrophies, Multisystem |Atrophies, Multisystemic |Atrophy, Multiple System |Atrophy, Multisystem |Atrophy, Multisystemic |Multiple System Atrophies |Multiple System Atrophy Syndrome |Multisystem Atrophies |Multisystem Atrophy |Multisystemic Atrophies |Multisystemi |
Slim Mappings: | Nervous system disease |
Reference: |
MedGen: D019578
MeSH: D019578
OMIM: 146500;
Genes: COQ2; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_015697.7(COQ2):c.1160G>A (p.Arg387Gln) | 27235 | COQ2 | risk factor | 763562410 | RCV000054431; | N | MedGen:C0037019,OMIM:146500,SNOMED CT:16576004 | 4 | 84185458 | 84185458 | NM_015697.7:c.1160G>A | NP_056512.5:p.Arg387Gln | NC_000004.11:g.84185458C>T | OMIM Allelic Variant:609825.0009 | C0037019 146500 Shy-Drager syndrome | | | NM_015697.7(COQ2):c.1159C>T (p.Arg387Ter) | 27235 | COQ2 | risk factor | 751185256 | RCV000054430; | N | MedGen:C0037019,OMIM:146500,SNOMED CT:16576004 | 4 | 84185459 | 84185459 | NM_015697.7:c.1159C>T | NP_056512.5:p.Arg387Ter | NC_000004.11:g.84185459G>A | OMIM Allelic Variant:609825.0008 | C0037019 146500 Shy-Drager syndrome | | | NM_015697.7(COQ2):c.1028T>C (p.Val343Ala) | 27235 | COQ2 | risk factor | 397514727 | RCV000054429; | N | MedGen:C0037019,OMIM:146500,SNOMED CT:16576004 | 4 | 84188812 | 84188812 | NM_015697.7:c.1028T>C | NP_056512.5:p.Val343Ala | NC_000004.11:g.84188812A>G | OMIM Allelic Variant:609825.0007 | C0037019 146500 Shy-Drager syndrome | | | NM_015697.7(COQ2):c.382A>G (p.Met128Val) | 27235 | COQ2 | risk factor | 778094136 | RCV000054428; | N | MedGen:C0037019,OMIM:146500,SNOMED CT:16576004 | 4 | 84205686 | 84205686 | NM_015697.7:c.382A>G | NP_056512.5:p.Met128Val | NC_000004.11:g.84205686T>C | OMIM Allelic Variant:609825.0006 | C0037019 146500 Shy-Drager syndrome | | |
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