Details of Disease

General Information of Disease (ID: DIS7CJCY)

Disease Name Myofibromatosis, infantile, 1
Synonyms
fibromatosis, congenital generalised; myofibromatosis, juvenile; fibromatosis, congenital generalized; IMF1; myofibromatosis caused by mutation in PDGFRB; myofibromatosis, infantile, type 1; PDGFRB myofibromatosis; myofibromatosis, infantile, 1
Definition Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.
Disease Hierarchy
DISXT8Z7: Infantile myofibromatosis
DIS7CJCY: Myofibromatosis, infantile, 1
Disease Identifiers
MONDO ID
MONDO_0009227
UMLS CUI
C4551572
OMIM ID
228550
MedGen ID
1632352

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDGFRB TTI7421 Strong CausalMutation [1]
PDGFRB TTI7421 Definitive Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDGFRB OTYSNK9Q Definitive Autosomal dominant [2]
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References

1 Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.BMC Cancer. 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x.
2 Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet. 2013 Jun 6;92(6):1001-7. doi: 10.1016/j.ajhg.2013.04.024. Epub 2013 May 23.