Familial Multiple Pilomatricomas

Preferred Label : Familial Multiple Pilomatricomas;

NCIt synonyms : Multiple Familial Pilomatricomas;

NCIt definition : A rare inherited disorder caused by germline mutation of the PLCD1 gene. It is characterized by the development of multiple pilomatricomas and is frequently associated with myotonic dystrophy and familial adenomatous polyposis.;

NCI Metathesaurus CUI : CL1928213;

Details

Origin ID

C205923;

disease_has_associated_disease
- Pilomatricoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- PLCD1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- PLCD1 Gene [NCIt concept]
disease_may_have_associated_disease
- Familial Adenomatous Polyposis [NCIt concept]
- Myotonic Dystrophy [NCIt concept]
pathogenesis_of_disease_involves_gene
- PLCD1 Gene [NCIt concept]
- PLCD1 wt Allele [NCIt concept]

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