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GENATLAS PHENOTYPE

last update : 06-11-2017

Symbol	ECDMM2
Location	12p11.22
Name	enchondromatosis, multiple 2
Corresponding gene	PTHLH
Main clinical features	enchondromas skeletal deformity and potential malignant change to osteosarcoma these cartilaginous lesions have an asymmetric distribution, but important variability is seen in the age of onset of the disease and the size, number, location and evolution of the enchondromas absence of platyspondyly or skull deformity
Genetic determination	autosomal dominant
Function/system disorder	osteo-articular
Type	disease

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