MCID: EPS006
MIFTS: 30

Epstein Syndrome malady

Genetic diseases (common) category

Summaries for Epstein Syndrome

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OMIM:47 Epstein syndrome is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and... (153650) more...

MalaCards based summary: Epstein Syndrome, also known as epsteins syndrome, is related to may-hegglin anomaly and fechtner syndrome, and has symptoms including high-frequency sensorineural hearing impairment, bilateral sensorineural hearing impairment and autosomal dominant inheritance. An important gene associated with Epstein Syndrome is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include eye and kidney.

Aliases & Classifications for Epstein Syndrome

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Sources:
47OMIM, 11diseasecard, 22GeneTests, 45Novoseek, 24GTR
See all sources

Epstein Syndrome, Aliases & Descriptions:

Name: Epstein Syndrome 47 11 22
 
Epsteins Syndrome 45 24


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM47 153650

Related Diseases for Epstein Syndrome

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Diseases related to Epstein Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1may-hegglin anomaly10.2
2fechtner syndrome10.2
3sebastian syndrome10.2
4myh9 related thrombocytopenia10.1
5proteinuria10.1
6alport syndrome9.9
7thrombocytopenia9.9

Graphical network of diseases related to Epstein Syndrome:



Diseases related to epstein syndrome

Symptoms for Epstein Syndrome

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Symptoms by clinical synopsis from OMIM:

153650

Clinical features from OMIM:

153650

HPO human phenotypes related to Epstein Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 high-frequency sensorineural hearing impairment obligate (100%) HP:0001757
2 bilateral sensorineural hearing impairment obligate (100%) HP:0008619
3 autosomal dominant inheritance HP:0000006
4 proteinuria HP:0000093
5 nephritis HP:0000123
6 epistaxis HP:0000421
7 cataract HP:0000518
8 hypertension HP:0000822
9 thrombocytopenia HP:0001873
10 giant platelets HP:0001902
11 gastrointestinal hemorrhage HP:0002239
12 microscopic hematuria HP:0002907
13 stage 5 chronic kidney disease HP:0003774

Drugs & Therapeutics for Epstein Syndrome

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Drug clinical trials:

Search ClinicalTrials for Epstein Syndrome

Search NIH Clinical Center for Epstein Syndrome

Genetic Tests for Epstein Syndrome

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Genetic tests related to Epstein Syndrome:

id Genetic test Affiliating Genes
1 Epstein Syndrome22 24 MYH9

Anatomical Context for Epstein Syndrome

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MalaCards organs/tissues related to Epstein Syndrome:

33
Eye, Kidney

Animal Models for Epstein Syndrome or affiliated genes

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Publications for Epstein Syndrome

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Articles related to Epstein Syndrome:

idTitleAuthorsYear
1
Thrombocytopenia and proteinuria. Nonmuscle myosin heavy-chain-9-related disease ( MYH9 RD) or Epstein syndrome (ES). (18781340)
2009
2
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). (18503011)
2008
3
MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. (12792306)
2003
4
Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. (11943476)
2002
5
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. (11935325)
2002
6
Familial hematuric syndromes--Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes. (11688406)
2001

Variations for Epstein Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Epstein Syndrome:

64
id Symbol AA change Variation ID SNP ID
1MYH9p.Arg702CysVAR_010792
2MYH9p.Glu1841LysVAR_010797
3MYH9p.Ser96LeuVAR_018309
4MYH9p.Arg702HisVAR_018311
5MYH9p.Ser1114ProVAR_018312
6MYH9p.Ile1816ValVAR_030385

Clinvar genetic disease variations for Epstein Syndrome:

7
id Gene Variation Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
2MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
3MYH9NM_002473.4(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995

Expression for genes affiliated with Epstein Syndrome

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Search GEO for disease gene expression data for Epstein Syndrome.

Pathways for genes affiliated with Epstein Syndrome

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Compounds for genes affiliated with Epstein Syndrome

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GO Terms for genes affiliated with Epstein Syndrome

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Products for genes affiliated with Epstein Syndrome

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Sources for Epstein Syndrome

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet