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myofibromatosis, infantile, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myofibromatosis, infantile, 1

MONDO:0009227

Also known as:PDGFRB myofibromatosismyofibromatosis caused by mutation in PDGFRBmyofibromatosis, infantile, type 1

Overview

Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.

GeneticsAutosomal dominant · PDGFRB (chr 5)

Clinical Presentation

Features include: Myofibromatosis and Fibroma.

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Genetic Landscape

PDGFRB function has not been fully characterized.

Myofibromatosis, infantile, 1 is associated with mutations in the PDGFRB gene on chromosome 5.

Diagnosis

Genetic testing for PDGFRB is available. Testing is considered confirmatory for diagnosis.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myofibromatosis, infantile, 1.

11 publications have been identified in PubMed for myofibromatosis, infantile, 1. Research spans Case Report / Case Series (64%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Patient case studies	7	64%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:27 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:228550

Questions for Your Care Team

→Should I pursue genetic testing for PDGFRB, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myofibromatosis, infantile, 1

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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