Fechtner Syndrome malady

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

OMIM: 153640

fechtner syndrome 7 16 33 32 macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions 16 alport syndrome with leukocyte inclusions and macrothrombocytopenia 16

fechtner syndrome (disorder) 43 alport syndrome 43

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

(show all 28)

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	hearing loss	7.7
12	nephritis	7.7
13	may-hegglin anomaly	7.6
14	elliptocytosis	7.3
15	esophagitis	7.3
16	leiomyomatosis, esophageal and vulval, with nephropathy	7.3
17	nephropathy	7.3
18	end stage renal failure	6.8
19	epstein syndrome	6.2
20	glomerulonephritis	6.2
21	macrothrombocytopenia	6.2
22	myh9 related thrombocytopenia	6.2
23	sebastian syndrome	6.2
24	smooth muscle tumor	5.9
25	twinning	5.9
26	fibrosis	5.9
27	intellectual disability	5.9
28	nephrocalcinosis	5.9

Clinical features from OMIM: 153640

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to fechtner syndrome:

²²

Articles related to fechtner syndrome:

(show all 11)

id	Title	Authors	Year	Affiliating Genes
1	Patients with Epstein-Fechtner syndromes owing to MYH 9 R702 mutations develop progressive proteinuric renal disease. (20200500)	Sekine T.... Kunishima S.	2010	MYH9
2	Expression and function of non-muscle myosin-IIA in Fechtner syndrome (18718080)	Yang H.Y.... Ruan C.G.	2008	MYH9
3	Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome). (17655694)	Selleng K.... Warkentin T.E.	2007	MYH9
4	Clinical and molecular study on Fechtner syndrome--case report and literature review (17649707)	Yang H.Y.... Ruan C.G.	2007	MYH9
5	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
6	Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. (12649151)	Deutsch S.... Beris P.	2003	MYH9
7	Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). (12500226)	Ghiggeri G.M.... Balduini C.L.	2003	MYH9
8	Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function. (12237319)	Hu A.... Sellers J.R.	2002	MYH9
9	Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. (11752022)	Arrondel C.... Heidet L.	2002	MYH9
10	Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. (11071640)	Toren A.... Greinacher A.	2000	MYH9
11	Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13. (11093280)	Cusano R.... Seri M.	2000	MYH9

Genes related to fechtner syndrome according to GeneCards:

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