SDS
MCID: OBS665
MIFTS: 15

Obsolete: Shy-Drager Syndrome (SDS)

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 59
Multiple System Atrophy-Urinary Dysfunction Syndrome 59
Msa-Urinary Dysfunction Syndrome 59
Sds 59

Classifications:



External Ids:

Orphanet 59 ORPHA98932

Summaries for Obsolete: Shy-Drager Syndrome

MalaCards based summary : Obsolete: Shy-Drager Syndrome, also known as multiple system atrophy-urinary dysfunction syndrome, is related to shwachman-diamond syndrome 1 and salla disease. An important gene associated with Obsolete: Shy-Drager Syndrome is COQ2 (Coenzyme Q2, Polyprenyltransferase).

Related Diseases for Obsolete: Shy-Drager Syndrome

Diseases related to Obsolete: Shy-Drager Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 544)
# Related Disease Score Top Affiliating Genes
1 shwachman-diamond syndrome 1 12.2
2 salla disease 11.9
3 trichohepatoenteric syndrome 1 11.9
4 semantic dementia 11.7
5 seborrheic dermatitis 11.7
6 microcephaly 11.4
7 sandhoff disease 11.3
8 deafness, autosomal dominant 69 11.3
9 breast abscess 11.3
10 microcephaly 1, primary, autosomal recessive 11.2
11 desbuquois dysplasia 1 11.2
12 sialuria 11.2
13 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 11.2
14 macrocephaly/autism syndrome 11.2
15 multiple system atrophy 1 11.2
16 sickle cell - hemoglobin d disease 11.2
17 microcephaly, autosomal dominant 11.1
18 isolated growth hormone deficiency, type ia 11.1
19 short stature, idiopathic, x-linked 11.1
20 mental retardation and microcephaly with pontine and cerebellar hypoplasia 11.1
21 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.1
22 microcephaly 5, primary, autosomal recessive 11.1
23 isolated growth hormone deficiency, type ib 11.1
24 lissencephaly 4 11.1
25 microcephaly 10, primary, autosomal recessive 11.1
26 desbuquois dysplasia 2 11.1
27 acid-labile subunit deficiency 11.1
28 nanophthalmos 4 11.1
29 macular dystrophy, vitelliform, 4 11.1
30 macular dystrophy, vitelliform, 5 11.1
31 short stature with nonspecific skeletal abnormalities 11.1
32 microcephaly 17, primary, autosomal recessive 11.1
33 leukodystrophy, hypomyelinating, 17 11.1
34 isolated growth hormone deficiency, type iv 11.1
35 macular degeneration, age-related, 1 10.4
36 argyria 10.4
37 gallbladder cancer 10.4
38 macular retinal edema 10.4
39 myopia 10.3
40 intraocular pressure quantitative trait locus 10.3
41 neural tube defects 10.3
42 alcoholic hepatitis 10.3
43 hydrops, lactic acidosis, and sideroblastic anemia 10.3
44 retinal detachment 10.2
45 microvascular complications of diabetes 5 10.2
46 helix syndrome 10.2
47 open-angle glaucoma 10.2
48 diabetic macular edema 10.2
49 rapidly involuting congenital hemangioma 10.2
50 malaria 10.2

Graphical network of the top 20 diseases related to Obsolete: Shy-Drager Syndrome:



Diseases related to 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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COQ2 NM_015697.8(COQ2): c.382A> G (p.Met128Val) single nucleotide variant Pathogenic,risk factor rs778094136 4:84205686-84205686 4:83284533-83284533
2 COQ2 NM_015697.8(COQ2): c.1159C> T (p.Arg387Ter) single nucleotide variant Pathogenic,risk factor rs751185256 4:84185459-84185459 4:83264306-83264306
3 COQ2 NM_015697.8(COQ2): c.1160G> A (p.Arg387Gln) single nucleotide variant risk factor rs763562410 4:84185458-84185458 4:83264305-83264305
4 COQ2 NM_015697.8(COQ2): c.1028T> C (p.Val343Ala) single nucleotide variant risk factor rs397514727 4:84188812-84188812 4:83267659-83267659
5 MAPT NM_016835.4(MAPT): c.664C> A (p.Arg222Ser) single nucleotide variant Uncertain significance 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....