myofibromatosis, infantile, 1
Findings
No curated finding names myofibromatosis, infantile, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.
Definition from the Mondo Disease Ontology (MONDO:0009227), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- FibromaHPOHP:0010614
- MyofibromatosisHPOHP:0020135
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDGFRBHGNC:8804
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: myofibromatosis, infantile, 1
- Also called
- myofibromatosis caused by mutation in PDGFRBmyofibromatosis, infantile, type 1PDGFRB myofibromatosis