Disorder "Infantile myofibromatosis"
Found 1 record
Disorder information
Disorder name:
Infantile myofibromatosis
Disoder ID:
OMIM entry:
Synonyms:
infantile hemangiopericytoma, multicentric myofibromatosis, myofibromatosis, infantile myofibromatosis
Definition:
A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| PTPRG | PTPRG:rs139041779 | Penetrance | Altered incidence | Gene expression studies | the mutation in PTPRG may explain the full phenotypic penetrancemore | more |
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