Preferred Label : Epstein syndrome;
Obsolete resource : true;
Moved to : 155100;
Symbol : EPSTNS;
CISMeF acronym : EPSTNS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Macrothrombocytopenia, nephritis, and deafness;
Description : 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.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene(myh9, 160775.0006);
Laboratory abnormalities : Microscopic hematuria; Proteinuria; Severe thrombocytopenia (30-60 x 10(9)/l); Normal-prolonged bleeding time; Reduced platelet aggregation response to adp, collagen, epinephrine;
Prefixed ID : 153650;
Origin ID : 153650;
UMLS CUI : C0398641;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
