Nail disorder, nonsyndromic congenital, 3

Preferred Label : Nail disorder, nonsyndromic congenital, 3;

Symbol : NDNC3;

CISMeF acronym : NDNC3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Leukonychia totalis and/or partialis; Porcelain nails;

Included titles and symbols : Leukonychia striatus; Leukonychia punctata;

Description : A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by Kiuru et al., 2011). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the delta-1 phospholipase C gene (PLCD1, 602142.0001);

Prefixed ID : #151600;

Details

Origin ID

151600;

UMLS CUI

C0544855;

Automatic exact mappings (from CISMeF team)
- Hereditary leukonychia [ICD-11 More detail]
- Leukonychia punctata (disorder) [SNOMED CT concept]
- leukonychia punctata [SNOMED Notion]
Currated CISMeF NLP mapping
- Leukonychia totalis [MeSH concept]
- Leukonychia totalis [ORDO Disease]
- leukonychia totalis [MeSH Supplementary Concept]
- nonsyndromic congenital nail disorder 3 [DO Concept]
DO Cross reference
- nonsyndromic congenital nail disorder 3 [DO Concept]
Genes related to phenotype
- Phospholipase C, delta-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Concave nail [HPO term]
- Leukonychia [HPO term]
- Nephrolithiasis [HPO term]
ORDO concept(s)
- Leukonychia totalis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Leukonychia totalis [ORDO Disease]
- Leukonychia totalis [MeSH concept]
- leukonychia totalis [MeSH Supplementary Concept]
- nonsyndromic congenital nail disorder 3 [DO Concept]
Validated automatic mappings to BTNT
- Leukonychia totalis (disorder) [SNOMED CT concept]

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