MYH9 related disorders

Several organs can be affected by mutations of the MYH9 gene, with which several autosomal dominant diseases are associated. Their symptoms include hearing loss, haematological abnormalities, and hereditary nephritis.

Clinical Findings

Disorder	Macro-thrombo-cytopenia	Leukocyte inclusions	Nephritis	Sensorineural deafness	Cataract
May-Hegglin anomaly	+	Dohle bodies
Sebastian syndrome	+	+
Epstein syndrome	+		+	+
Fechtner syndrome	+	+	+	+	+
Nonsyndromic sensorineural deafness 17				+

Systematic

Glomerular basement membrane disorders
	Alport Syndrome
	HANAC syndrome
	Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
	MYH9 related disorders
		Epstein syndrome
			MYH9
		Fechtner syndrome
			MYH9
		MYH9
		Sebastian syndrome
			MYH9
	Nail-patella syndrome
	Nephropathy with pretibial epidermolysis bullosa and deafness
	PXDN
	Thin basement membrane nephropathy

Update:

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