hereditary desmoid disease

Summary
Synonym
  • FIF
  • familial infiltrative fibromatosis
Definition
A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2.
Super Class
autosomal genetic disease syndrome
Disease Ontology
DOID:0111349
MeSH
UMLS
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
324 APC APC regulator of WNT signaling pathway
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P25054 Adenomatous polyposis coli protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025