Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 25/02/2009

Symbol	ATSDL
Location	Xq22.3
Name	Alport syndrome with diffuse leiomyomatosis
Other name(s)	diffuse leiomyomatosis, esophageal and vulval, with nephropathy
Corresponding gene	COL4A6 , COL4A5
Main clinical features	a syndrome of disseminated smooth muscle tumors, involving the esophagus, large airways tractus, female reproductive tract, contiguous gene syndrome associated with Alport syndrome
Genetic determination	sex linked
Related entries	AMME
Function/system disorder	kidney and urinary tract
	connective tissue
Type	disease

Remark(s)

partial deletion of COL4A5 and COL4A6, with the breakpoint in intron 2 of COL4A6, and in LINE1 repetitive element of COL4A5 and a putative disruption of another as yet unidentified gene