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GENATLAS PHENOTYPE

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
	neoplasia
Type	susceptibility factor

Remark(s)

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))