Preferred Label : Dupuytren contracture;
CISMeF acronym : DUPC1;
Type : Phenotype or locus, molecular basis unknown;
Included titles and symbols : Dupuytren contracture 1; Plantar fibromas; Plantar fibromatosis, familial; DUPC1;
Description : Dupuytren contracture is the most common heritable disorder of connective tissue.
It is a disease of the soft tissues of the palm and fingers characterized by a progressive
thickening and shortening of the fascial structures that normally provide support
to the glabrous skin of the palm. Although it can also be a sporadic disorder, the
inherited form is most frequently observed among people of Nordic descent. There is
a male: female ratio of greater than 3:1 (Hu et al., 2005). Dupuytren contracture
has been associated with multiple fibroproliferative conditions, including Peyronie
disease (171000), knuckle pads (149100), congenital generalized fibromatosis (228550),
juvenile fibromatosis (228600), and frozen shoulder, suggesting a common underlying
defect in wound repair (Hu et al., 2005).;
Inheritance : Autosomal dominant;
Prefixed ID : %126900;
Origin ID : 126900;
UMLS CUI : C0013312;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)