MCID: EPS006
MIFTS: 33

Epstein Syndrome

Categories: Genetic diseases, Blood diseases, Ear diseases

Aliases & Classifications for Epstein Syndrome

MalaCards integrated aliases for Epstein Syndrome:

Name: Epstein Syndrome 53 71 71 36 28 13 69
Epstns 53 71
Macrothrombocytopenia, Nephritis, and Deafness 53
Macrothrombocytopathy, Nephritis and Deafness 71
Alport Syndrome, with Macrothrombocytopenia 71
Macrothrombocytopathy-Nephritis-Deafness 71
Sebastian Syndrome 69
Epsteins Syndrome 51
Apsm 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
bleeding episodes occur early in life and may disappear with age


HPO:

31
epstein syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epstein Syndrome

OMIM : 53 Epstein syndrome is an autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness (Epstein et al., 1972). There are several other disorders caused by mutation in the MYH9 gene that share overlapping features with Epstein syndrome. May-Hegglin anomaly (155100) is characterized by the triad of thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood leukocytes. These leukocyte inclusions are not found on classic staining of peripheral blood in Epstein syndrome. Fechtner syndrome (153640) has the platelet defect accompanied by nephritis, hearing loss, and eye abnormalities, mostly cataracts. The findings of nephritis, hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent of Alport syndrome (see 301050). Sebastian syndrome (605249) is similar to May-Hegglin anomaly, but has a different ultrastructural appearance of the leukocyte inclusions. Seri et al. (2003) suggested that these 4 disorders, May-Hegglin, Sebastian, Epstein, and Fechtner syndromes, are not distinct entities, but rather represent a single disorder with a continuous clinical spectrum, for which they proposed the term 'MYH9-related disease.' However, other disorders, e.g., macrothrombocytopenia and progressive sensorineural deafness (600208) and a form of nonsyndromic deafness (DFNA17; 603622), are also caused by mutation in the MYH9 gene. (153650)

MalaCards based summary : Epstein Syndrome, also known as epstns, is related to may-hegglin anomaly and fechtner syndrome, and has symptoms including hypertension, cataract and proteinuria. An important gene associated with Epstein Syndrome is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are Tight junction and Regulation of actin cytoskeleton. Affiliated tissues include eye and kidney.

UniProtKB/Swiss-Prot : 71 Alport syndrome, with macrothrombocytopenia: An autosomal dominant disorder characterized by the association of ocular lesions, sensorineural hearing loss and nephritis (Alport syndrome) with platelet defects. Epstein syndrome: An autosomal dominant disorder characterized by the association of macrothrombocytopathy, sensorineural hearing loss and nephritis.

Related Diseases for Epstein Syndrome

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

# Related Disease Score Top Affiliating Genes
1 may-hegglin anomaly 11.3
2 fechtner syndrome 11.3
3 sebastian syndrome 11.3
4 myh9 related thrombocytopenia 11.0
5 thrombocytopenia 9.6
6 radin blood group antigen 9.5
7 alport syndrome, x-linked 9.5
8 branchiootic syndrome 1 9.5
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.5
10 sensorineural hearing loss 9.5

Graphical network of the top 20 diseases related to Epstein Syndrome:



Diseases related to Epstein Syndrome

Symptoms & Phenotypes for Epstein Syndrome

Symptoms via clinical synopsis from OMIM:

53
Laboratory Abnormalities:
proteinuria
microscopic hematuria
severe thrombocytopenia (30-60 x 10(9)/l)
normal-prolonged bleeding time
reduced platelet aggregation response to adp, collagen, epinephrine

Genitourinary Kidneys:
nephritis
end stage renal disease (33% of patients)
hypertension, moderate

Head And Neck Eyes:
cataract (alport syndrome with macrothrombocytopenia)
no cataract (epstein syndrome)

Hematology:
thrombocytopenia
giant platelets
mild bleeding episodes (epistaxis, gi bleeding, menorrhagia)
no leukocyte inclusion bodies on giemsa staining
myh9-positive inclusions on immunohistochemical staining

Head And Neck Ears:
deafness, bilateral sensorineural, high frequency (100% of patients)

Cardiovascular Vascular:
hypertension, moderate, secondary to renal disease


Clinical features from OMIM:

153650

Human phenotypes related to Epstein Syndrome:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 cataract 31 HP:0000518
3 proteinuria 31 HP:0000093
4 thrombocytopenia 31 HP:0001873
5 gastrointestinal hemorrhage 31 HP:0002239
6 epistaxis 31 HP:0000421
7 stage 5 chronic kidney disease 31 HP:0003774
8 bilateral sensorineural hearing impairment 31 very rare (1%) HP:0008619
9 high-frequency sensorineural hearing impairment 31 very rare (1%) HP:0001757
10 microscopic hematuria 31 HP:0002907
11 nephritis 31 HP:0000123
12 giant platelets 31 HP:0001902

Drugs & Therapeutics for Epstein Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of Eltrombopag to Improve Thrombocytopenia of MYH9-related Disease Completed NCT01133860 Phase 2 eltrombopag
2 Eltrombopag for Inherited Thrombocytopenias Active, not recruiting NCT02422394 Phase 2 Eltrombopag
3 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search NIH Clinical Center for Epstein Syndrome

Genetic Tests for Epstein Syndrome

Genetic tests related to Epstein Syndrome:

# Genetic test Affiliating Genes
1 Epstein Syndrome 28 MYH9

Anatomical Context for Epstein Syndrome

MalaCards organs/tissues related to Epstein Syndrome:

38
Eye, Kidney

Publications for Epstein Syndrome

Articles related to Epstein Syndrome:

(show all 19)
# Title Authors Year
1
An unusual cause of renal failure; Epstein syndrome. ( 28197502 )
2016
2
Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure. ( 26387855 )
2015
3
Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies: A Case Report. ( 26518967 )
2015
4
A case of cochlear implantation in a patient with Epstein syndrome. ( 25293679 )
2015
5
Cochlear implantation in a patient with Epstein syndrome. ( 22854055 )
2013
6
ABO-incompatible renal transplantation in Epstein syndrome. ( 20590691 )
2010
7
Thrombocytopenia and proteinuria. Nonmuscle myosin heavy-chain-9-related disease ( MYH9 RD) or Epstein syndrome (ES). ( 18781340 )
2009
8
Epstein syndrome presenting as renal failure in young patients. ( 19839854 )
2009
9
Epstein syndrome with rapid progression to end stage renal disease. ( 19861875 )
2009
10
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). ( 18503011 )
2008
11
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
12
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
13
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. ( 11935325 )
2002
14
Familial hematuric syndromes--Alport syndrome, thin glomerular basement membrane disease and Fechtner/Epstein syndromes. ( 11688406 )
2001
15
Congenital macrothrombocytopenic thrombopathy and nephritis (Epstein syndrome--variant). ( 17322713 )
2000
16
Littoral cell angioma in a patient with Epstein syndrome. ( 9286309 )
1997
17
Epstein syndrome: oral lesions in a patient with nephropathy, deafness and thrombocytopenia. ( 1753355 )
1991
18
Renal transplantation in Epstein syndrome. ( 3541581 )
1987
19
Successful renal transplantation for Epstein syndrome. ( 3518415 )
1986

Variations for Epstein Syndrome

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

71
# Symbol AA change Variation ID SNP ID
1 MYH9 p.Arg702Cys VAR_010792 rs80338826
2 MYH9 p.Glu1841Lys VAR_010797 rs80338834
3 MYH9 p.Ser96Leu VAR_018309 rs121913657
4 MYH9 p.Arg702His VAR_018311 rs80338827
5 MYH9 p.Ser1114Pro VAR_018312 rs200901330
6 MYH9 p.Ile1816Val VAR_030385 rs762773112

ClinVar genetic disease variations for Epstein Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH9 NM_002473.5(MYH9): c.2104C> T (p.Arg702Cys) single nucleotide variant Pathogenic rs80338826 GRCh37 Chromosome 22, 36702031: 36702031
2 MYH9 NM_002473.5(MYH9): c.2105G> A (p.Arg702His) single nucleotide variant Pathogenic rs80338827 GRCh37 Chromosome 22, 36702030: 36702030
3 MYH9 NM_002473.5(MYH9): c.287C> T (p.Ser96Leu) single nucleotide variant Pathogenic rs121913657 GRCh37 Chromosome 22, 36744995: 36744995

Expression for Epstein Syndrome

Search GEO for disease gene expression data for Epstein Syndrome.

Pathways for Epstein Syndrome

Pathways related to Epstein Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Tight junction hsa04530
2 Regulation of actin cytoskeleton hsa04810

GO Terms for Epstein Syndrome

Sources for Epstein Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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