Epstein Syndrome malady

MalaCards: Epstein Syndrome, also known as macrothrombocytopathy, nephritis, and deafness, is related to alport syndrome and autosomal recessive alport syndrome. An important gene associated with Epstein Syndrome is MYH9 (myosin, heavy chain 9, non-muscle).

OMIM: 153650

epstein syndrome 7 16 33 macrothrombocytopathy, nephritis, and deafness 16 alport syndrome with macrothrombocytopenia 16

epstein syndrome (disorder) 43 epsteins syndrome 32 alport syndrome 43

Diseases related to epstein syndrome by text searches and GeneDecks gene sharing:

(show all 19)

id	Related Disease	Score	Top Affiliating Genes
1	alport syndrome	12.8
2	autosomal recessive alport syndrome	10.0
3	autosomal dominant alport syndrome	9.6
4	leiomyomatosis	9.6
5	collagen iv-related nephropathies (alport syndrome and thin basement membrane nephropathy)	8.2
6	col4a5 alport syndrome	8.0
7	hematuria	8.0
8	alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis	7.7
9	col4a3 alport syndrome and thin basement membrane nephropathy	7.7
10	col4a4 alport syndrome and thin basement membrane nephropathy	7.7
11	elliptocytosis	7.3
12	leiomyomatosis, esophageal and vulval, with nephropathy	7.3
13	intellectual disability	5.9
14	nephrocalcinosis	5.9
15	fechtner syndrome	5.4
16	faulk epstein jones syndrome	5.4
17	may-hegglin anomaly	5.4
18	myh9 related thrombocytopenia	5.4
19	sebastian syndrome	5.4

Clinical features from OMIM: 153650

Approved drugs:

Drug clinical trials:

Articles related to epstein syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Thrombocytopenia and proteinuria. Nonmuscle myosin he avy-chain-9-related disease ( MYH9 RD) or Epstein syndrome (ES). (18781340)	Bhatt A.... Omoloja A.	2009	MYH9
2	Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). (18503011)	Pecci A.... Balduini C.L.	2008	MYH9
3	MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. (12792306)	Seri M.... Savoia A.	2003	MYH9
4	Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. (11935325)	Seri M.... Savoia A.	2002	MYH9
5	Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes. (11943476)	D'Apolito M.... Savoia A.	2002	MYH9

Genes related to epstein syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	MYH9	myosin, heavy chain 9, non-muscle	11.1	Publications, Disorders, Summaries