Familial Dupuytren contracture

General Information (adopted from Orphanet):

Synonyms, Signs: PLANTAR FIBROMAS, INCLUDED
PLANTAR FIBROMATOSIS, FAMILIAL, INCLUDED
DUPC1, INCLUDED
Number of Symptoms 19
OrphanetNr: 79142
OMIM Id: 126900
ICD-10: M72.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Other genetic epidermal disease
 -Rare genetic disease
Superficial fibromatosis
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0100624) Corpus cavernosum sclerosis Occasional [Orphanet] 1 / 7739
2
 (HPO:0000036) Abnormality of the penis Occasional [Orphanet] 8 / 7739
3
 (HPO:0100639) Erectile abnormalities Occasional [Orphanet] 15 / 7739
4
 (HPO:0000819) Diabetes mellitus Very frequent [Orphanet] 131 / 7739
5
 (HPO:0005679) Dupuytren contracture 3 / 7739
6
 (HPO:0009473) Joint contracture of the hand 84 / 7739
7
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
8
 (HPO:0001031) Subcutaneous lipoma Very frequent [Orphanet] 112 / 7739
9
 (HPO:0000987) Atypical scarring of skin Very frequent [Orphanet] 58 / 7739
10
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
11
 (HPO:0003829) Incomplete penetrance 85 / 7739
12
 (OMIM) Thickening of the fascial structures of the palm and fingers 1 / 7739
13
 (HPO:0003676) Progressive disorder 148 / 7739
14
 (OMIM) Stiff skin Very frequent [Orphanet] 31 / 7739
15
 (OMIM) Shortening of the fascial structures of the palm and fingers 1 / 7739
16
 (HPO:0003581) Adult onset 117 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Plantar fibromatosis 1 / 7739
19
 (OMIM) Contractures of the fingers 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Manson (1931) described affected father and 3 sons with contractures of fingers. Autosomal dominant inheritance with incomplete penetrance was likely.

Under the designation 'familial fibromatosis,' Young and Fortt (1981) described a family in which at least ...