U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Myofibromatosis, infantile, 1

Myofibromatosis, infantile, 1

Synonyms
Myofibromatosis, juvenile

Summary

A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life. [from NCI]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT, PDGFRB
    Summary: platelet derived growth factor receptor beta

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.