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GENATLAS PHENOTYPE

last update : 15-07-2013

Symbol	IMF1
Location	5q32
Name	infantile myofibromatosis-1
Corresponding gene	PDGFRB
Main clinical features	characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life multiple fibroblastic tumors involving skin, striated muscles, bones, and viscera at histology, well-circumscribed nodules, formed by a central hemagiopericytoma-like vascular proliferation, surrounded by sweeping fascicles of fibroblastic and myofibroblastic cells
Genetic determination	autosomal recessive
	autosomal dominant
Function/system disorder	neuromuscular
	dermatology
Type	disease

Remark(s)

recurrent germline mutation, c.1681C>T (p.Arg561Cys), in PDGFRB is responsible for the autosomal-dominant familial but not for the simplex form of infantile myofibromatosis (PMID: 23731537))