Nail disorder, nonsyndromic congenital, 1

Preferred Label : Nail disorder, nonsyndromic congenital, 1;

Symbol : NDNC1;

CISMeF acronym : NDNC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Twenty-nail dystrophy; Onychodystrophy totalis, isolated; NDNC10; Onychauxis, hyponychia, and onycholysis; Claw-shaped nails; Nail disorder, nonsyndromic congenital, 10;

Included titles and symbols : Nail growth;

Description : Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NCNC1). - Other Nonsyndromic Congenital Nail Disorders Other nonsyndromic congenital nail disorders include koilonychia (NDNC2; 149300); leukonychia (NDNC3; 151600) caused by mutation in the PLCD1 gene (602142) on chromosome 3p22-p21.3; anonychia/hyponychia (NDNC4; 206800) caused by mutation in the RSPO4 gene (610673) on chromosome 20p13; partial onycholysis with scleronychia (NDNC5; 164800); anonychia of thumbs with onychodystrophy of other nails (NDNC6; 107000); onychodystrophy mapping to chromosome 17p13 (NDNC7; 605779); toenail dystrophy (NDNC8; 607523) caused by mutation in the COL7A1 gene (120120) on chromosome 3p21.3; onychodystrophy mapping to chromosome 17q25.1-q25.3 (NDNC9; 614149); and onychodystrophy (NDNC10; 614157) caused by mutation in the FZD6 gene (603409) on chromosome 8q22.3-q23.1.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the homolog of Drosophila frizzled-6 gene (FZD6, 603409.0001);

Prefixed ID : #161050;

Details

Origin ID

161050;

UMLS CUI

C0406443;

Automatic exact mappings (from CISMeF team)
- FZD6 wt Allele [NCIt concept]
- Growth of nails, function (observable entity) [SNOMED CT concept]
- Idiopathic trachyonychia [ORDO Disease]
- nonsyndromic congenital nail disorder 10 [DO Concept]
Currated CISMeF NLP mapping
- nonsyndromic congenital nail disorder 1 [DO Concept]
DO Cross reference
- nonsyndromic congenital nail disorder 1 [DO Concept]
Genes related to phenotype
- Frizzled class receptor 6 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Nail dysplasia [HPO term]
- Onychogryposis [HPO term]
- Onycholysis [HPO term]
- Slowly progressive [HPO term]
- Thin nail [HPO term]
- Trachyonychia [HPO term]
ORDO concept(s)
- Autosomal recessive nail dysplasia [ORDO Disease]
- Idiopathic trachyonychia [ORDO Disease]
See also inter- (CISMeF)
- Idiopathic trachyonychia [ORDO Disease]
- Twenty nail dystrophy (disorder) [SNOMED CT concept]
- Twenty-Nail dystrophy [MeSH concept]
- Twenty-Nail dystrophy [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Idiopathic trachyonychia [ORDO Disease]
- Twenty nail dystrophy (disorder) [SNOMED CT concept]
- Twenty-Nail dystrophy [MeSH Supplementary Concept]
- Twenty-Nail dystrophy [MeSH concept]
- nonsyndromic congenital nail disorder 1 [DO Concept]

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