EPSTEIN SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS
Number of Symptoms 23
OrphanetNr:
OMIM Id: 153650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
2
(HPO:0002907) Microscopic hematuria 27 / 7739
3
(HPO:0000123) Nephritis 18 / 7739
4
(HPO:0000093) Proteinuria 169 / 7739
5
(HPO:0000421) Epistaxis 85 / 7739
6
(HPO:0000518) Cataract 454 / 7739
7
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
8
(HPO:0008619) Bilateral sensorineural hearing impairment 100% [HPO:probinson] 23 / 7739
9
(HPO:0001757) High-frequency sensorineural hearing impairment 100% [HPO:probinson] 7 / 7739
10
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
11
(HPO:0000822) Hypertension 224 / 7739
12
(HPO:0001873) Thrombocytopenia 224 / 7739
13
(HPO:0001902) Giant platelets 11 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(OMIM) Mild bleeding episodes (epistaxis, GI bleeding, menorrhagia) 1 / 7739
16
(OMIM) Reduced platelet aggregation response to ADP, collagen, epinephrine 1 / 7739
17
(OMIM) Severe thrombocytopenia (30-60 x 10(9)/L) 1 / 7739
18
(OMIM) MYH9-positive inclusions on immunohistochemical staining 2 / 7739
19
(OMIM) Normal-prolonged bleeding time 1 / 7739
20
(OMIM) No leukocyte inclusion bodies on Giemsa staining 1 / 7739
21
(OMIM) Deafness, bilateral sensorineural, high frequency (100% of patients) 1 / 7739
22
(OMIM) Hypertension, moderate 1 / 7739
23
(OMIM) Hypertension, moderate, secondary to renal disease 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM Epstein et al. (1972) described 2 unrelated families, each with 2 members with macrothrombocytopathia, nephritis, and deafness. In 1 family, a third member, a young child, had the platelet disorder and a mild hearing loss. Except for the ...
Molecular genetics OMIM Heath et al. (2001) found that the original family reported by Epstein et al. (1972) had a missense mutation in the gene that encodes nonmuscle myosin heavy chain IIA (MYH9; 160775.0006), which is also the site of mutations ...