Nail disorder, nonsyndromic congenital, 8

Preferred Label : Nail disorder, nonsyndromic congenital, 8;

Symbol : NDNC8;

CISMeF acronym : NDNC8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Toenail dystrophy, isolated;

Description : This form of isolated toenail dystrophy has been found to segregate as an autosomal dominant trait in families in which another member has the autosomal recessive skin disorder dystrophic epidermolysis bullosa (226600) or transient bullous dermolysis of the newborn (131705), the features of which include dystrophic nails. The nail changes in isolated toenail dystrophy are most severe in the great toes and consist of the nail plate being buried in the nail bed with a deformed and narrow free edge (summary by Sato-Matsumura et al., 2002). This form of toenail dystrophy is referred to here as nonsyndromic congenital nail disorder-8 (NDNC8). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1 type VII collagen gene (COL7A1, 120120.0014);

Prefixed ID : #607523;

Détails

Origin ID

607523;

UMLS CUI

C1843761;

Automatic exact mappings (from CISMeF team)
- COL7A1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- nonsyndromic congenital nail disorder 8 [DO Concept]
- toenail dystrophy, isolated [MeSH concept]
- toenail dystrophy, isolated [MeSH Supplementary Concept]
DO Cross reference
- nonsyndromic congenital nail disorder 8 [DO Concept]
Genes related to phenotype
- Collagen, type VII, alpha-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Dystrophic toenail [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- nonsyndromic congenital nail disorder 8 [DO Concept]
- toenail dystrophy, isolated [MeSH Supplementary Concept]
- toenail dystrophy, isolated [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients