Preferred Label : Myofibromatosis, infantile, 1;
Symbol : IMF1;
CISMeF acronym : CGF; IMF1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : CGF; Fibromatosis, congenital generalized; Myofibromatosis, juvenile;
Description : Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset
of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs.
Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and
trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be
solitary or multicentric, and they may be present at birth or become apparent in early
infancy or occasionally in adult life (summary by Arcangeli and Calista, 2006). -
Genetic Heterogeneity of Infantile Myofibromatosis See also IMF2 (615293), caused
by mutation in the NOTCH3 gene (600276).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the platelet-derived growth factor receptor, beta, gene (PDGFRB,
173410.0003);
Prefixed ID : #228550;
Origin ID : 228550;
UMLS CUI : C4551572;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Narrower ORDO disease(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
