MCID: FML226
MIFTS: 12

Familial Dupuytren Contracture

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Familial Dupuytren Contracture

MalaCards integrated aliases for Familial Dupuytren Contracture:

Name: Familial Dupuytren Contracture 50 56

Classifications:



Summaries for Familial Dupuytren Contracture

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79142disease definitionfamilial dupuyren contracture is a rare, genetic, epidermal disease characterized by a, usually unilateral, progressive thickening and shortening of the palmar fascia, leading to permanent flexion contracture of the digits in several members of a family. it most commonly affects the fourth digit, followed by the fifth and then the third (first and second digits are usually spared).visit the orphanet disease page for more resources. last updated: 6/19/2017

MalaCards based summary : Familial Dupuytren Contracture and has symptoms including diabetes mellitus, thickened skin and limitation of joint mobility. Affiliated tissues include skin.

Related Diseases for Familial Dupuytren Contracture

Diseases in the Dupuytren Contracture family:

Familial Dupuytren Contracture

Symptoms & Phenotypes for Familial Dupuytren Contracture

Human phenotypes related to Familial Dupuytren Contracture:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000819
2 thickened skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0001072
3 limitation of joint mobility 56 32 hallmark (90%) Very frequent (99-80%) HP:0001376
4 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%) HP:0001482
5 dupuytren contracture 56 32 hallmark (90%) Very frequent (99-80%) HP:0005679
6 camptodactyly of finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0100490

Drugs & Therapeutics for Familial Dupuytren Contracture

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Knee Stiffness in Fibrosis Diathesis Unknown status NCT02294890

Search NIH Clinical Center for Familial Dupuytren Contracture

Genetic Tests for Familial Dupuytren Contracture

Anatomical Context for Familial Dupuytren Contracture

MalaCards organs/tissues related to Familial Dupuytren Contracture:

39
Skin

Publications for Familial Dupuytren Contracture

Variations for Familial Dupuytren Contracture

Expression for Familial Dupuytren Contracture

Search GEO for disease gene expression data for Familial Dupuytren Contracture.

Pathways for Familial Dupuytren Contracture

GO Terms for Familial Dupuytren Contracture

Sources for Familial Dupuytren Contracture

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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