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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-05-2017
Symbol HDD
Location 5q22.2
Name hereditary desmoid disease
Other name(s)
  • familial infiltrative fibromatosis
  • Gardner syndrome
  • Corresponding gene APC
    Other symbol(s) FIF
    Main clinical features
  • cilia-related disease
  • desmoid tumors are slowly growing fibrous tumors highly resistant to therapy and often fatal; they are usually a complication of familial adenomatous polyposis
  • desmoid tumors are usually intraabdominal and, although benign, can be locally aggressive and result in significant morbidity
  • Genetic determination autosomal dominant
    Related entries FAP
    Function/system disorder connective tissue
    Type susceptibility factor
  • expression of tumor-associated N-terminal APC fragments (APC-N, APC-N1, APC-N2, and APC-N3, which contain amino acids 1-1018, 1-448, 449-781, and 782-1018 respectively), resulted in primary cilia defects (PMID: 25150829))