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GENATLAS PHENOTYPE

last update : 13-10-2012

Symbol	WINCH2
Location	14q11.2
Name	Winchester syndrome 2
Corresponding gene	MMP14
Main clinical features	vanishing bone syndrome progressive bilateral and symmetric osteolysis of the carpals and tarsals, interphalangeal joint erosions mimicking rheumatoid arthritis, generalized osteoporosis, and eventual loss of function of the larger joints, including the shoulder, elbow, hip, and knee joints gum hypertrophy, corneal opacities, and electrocardiographical findings suggestive of myocardial damage
Genetic determination	autosomal recessive
Function/system disorder	eye
	osteo-articular
Type	disease

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