MCID: OBS665
MIFTS: 7

Obsolete: Shy-Drager Syndrome

Categories: Nephrological diseases, Rare diseases

Aliases & Classifications for Obsolete: Shy-Drager Syndrome

MalaCards integrated aliases for Obsolete: Shy-Drager Syndrome:

Name: Obsolete: Shy-Drager Syndrome 58
Multiple System Atrophy-Urinary Dysfunction Syndrome 58
Msa-Urinary Dysfunction Syndrome 58

Classifications:



External Ids:

Orphanet 58 ORPHA98932

Summaries for Obsolete: Shy-Drager Syndrome

MalaCards based summary : Obsolete: Shy-Drager Syndrome, is also known as multiple system atrophy-urinary dysfunction syndrome. An important gene associated with Obsolete: Shy-Drager Syndrome is COQ2 (Coenzyme Q2, Polyprenyltransferase).

Related Diseases for Obsolete: Shy-Drager Syndrome

Symptoms & Phenotypes for Obsolete: Shy-Drager Syndrome

Drugs & Therapeutics for Obsolete: Shy-Drager Syndrome

Search Clinical Trials , NIH Clinical Center for Obsolete: Shy-Drager Syndrome

Genetic Tests for Obsolete: Shy-Drager Syndrome

Anatomical Context for Obsolete: Shy-Drager Syndrome

Publications for Obsolete: Shy-Drager Syndrome

Variations for Obsolete: Shy-Drager Syndrome

ClinVar genetic disease variations for Obsolete: Shy-Drager Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2):c.382A>G (p.Met128Val)SNV Pathogenic,risk factor 60536 rs778094136 4:84205686-84205686 4:83284533-83284533
2 COQ2 NM_015697.8(COQ2):c.1159C>T (p.Arg387Ter)SNV Pathogenic,risk factor 60538 rs751185256 4:84185459-84185459 4:83264306-83264306
3 COQ2 NM_015697.8(COQ2):c.1160G>A (p.Arg387Gln)SNV risk factor 60539 rs763562410 4:84185458-84185458 4:83264305-83264305
4 COQ2 NM_015697.8(COQ2):c.1028T>C (p.Val343Ala)SNV risk factor 60537 rs397514727 4:84188812-84188812 4:83267659-83267659
5 MAPT NM_016835.4(MAPT):c.664C>A (p.Arg222Ser)SNV Uncertain significance 638372 17:44060834-44060834 17:45983468-45983468

Expression for Obsolete: Shy-Drager Syndrome

Search GEO for disease gene expression data for Obsolete: Shy-Drager Syndrome.

Pathways for Obsolete: Shy-Drager Syndrome

GO Terms for Obsolete: Shy-Drager Syndrome

Sources for Obsolete: Shy-Drager Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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