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GENATLAS PHENOTYPE

last update : 03-12-2011

Symbol	ECDM2
Location	12q24.1
Name	metachondromatosis 2
Other name(s)	Upington disease enchondromata ecchondromata
Corresponding gene	PTPN11
Main clinical features	dyschondroplasia, with combined exostosis and enchondromatosis tumor syndrome
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

Remark(s)

. heterozygous loss-of-function mutations in PTPN11 are a frequent cause of metachondromatosis