Preferred Label : Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural
hearing loss;
Symbol : MATINS;
CISMeF acronym : APSM; BDPLT6; EPSTNS; FTNS; MATINS; MHA; SBS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Bleeding disorder, platelet-type, 6; BDPLT6; Dohle leukocyte inclusions with giant platelets; Macrothrombocytopenia with leukocyte inclusions; EPSTNS; May-hegglin anomaly; Giant platelet syndrome with thrombocytopenia; Sebastian syndrome; Sebastian platelet syndrome; Macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions; Epstein syndrome; Macrothrombocytopenia, nephritis, and deafness; SBS; Macrothrombocytopenia with dispersed leukocytic inclusions; APSM; Macrothrombocytopenia and progressive sensorineural deafness; FTNS; Fechtner syndrome; MHA; Alport syndrome with macrothrombocytopenia;
Description : May-Hegglin anomaly is an autosomal dominant disorder characterized by the triad of
thrombocytopenia, giant platelets, and Dohle body-like inclusions in peripheral blood
leukocytes. About 25 to 50% of affected individuals have mild to moderate episodic
bleeding (summary by Kelley et al., 2000). There are several other disorders caused
by mutation in the MYH9 gene that share overlapping features with May-Hegglin anomaly.
Fechtner syndrome (153640) has the platelet defect accompanied by nephritis, hearing
loss, and eye abnormalities, mostly cataracts. Epstein syndrome (153650) has the platelet
defect, deafness, and nephritis, but does not have cataract and lacks leukocyte inclusion
bodies on classic staining of peripheral blood smears. The findings of nephritis,
hearing loss, and occasional cataracts in Fechtner and Epstein syndromes are reminiscent
of Alport syndrome (301050). Sebastian syndrome (605249) is the most similar to May-Hegglin
anomaly, but has a different ultrastructural appearance of the leukocyte inclusions.
In MHA, the inclusions are composed of clusters of ribosomes oriented along parallel
microfilaments, whereas in Sebastian syndrome, the leukocyte inclusions are composed
of highly dispersed filaments and few ribosomes. Seri et al. (2003) suggested that
these 4 disorders, May-Hegglin, Fechtner, Sebastian, and Epstein 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.';
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, 160775.0001);
Laboratory abnormalities : Median mean platelet volume (MPV) 12.5fL; Prolonged bleeding time; Thrombocytopenia, mild-moderate (60-100 x 10(9)/L); Normal platelet aggregation response to epinephrine, ADP, collagen, and ristocetin;
Prefixed ID : #155100;
Origin ID : 155100;
UMLS CUI : C5200934;
Automatic exact mappings (from CISMeF team)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to BTNT
