Epstein syndrome

The common cause of several autosomal dominant diseases is an altered myosin heavy chain, which is an essential constituent of the cytoskeleton. Depending on the type of mutation different pathological findings might be present. Nephropathy, resembling Alport syndrome, deafness, and haematological findings, such as leukocyte inclusions and thrombocytopenia with giant platelets, might be present.

Systematic

MYH9 related disorders
	Epstein syndrome
		MYH9
	Fechtner syndrome
	MYH9
	Sebastian syndrome

References:

1.	Heath KE et al. (2001) Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes.

2.	Seri M et al. (2002) Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.

3.	OMIM.ORG article Omim 153650

4.	Orphanet article Orphanet ID 1019

5.	Wikipedia article Wikipedia EN (May–Hegglin_anomaly)