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NDNC3
MCID: NLD012
MIFTS: 35
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Nail Disorder, Nonsyndromic Congenital, 3 (NDNC3)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 3:
Characteristics:Inheritance:
Autosomal dominant 57
Age Of Onset:
Leukonychia Totalis:
Neonatal 58
Age Of Death:
Leukonychia Totalis:
normal life expectancy 58
OMIM®:57 (Updated 24-Oct-2022)
Miscellaneous:
variable number of nails involved nails may be intermittently involved Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Bone diseases
ICD10:
32
Orphanet: 58
Rare skin diseases External Ids:
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OMIM®: 57 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). (151600) (Updated 24-Oct-2022) MalaCards based summary: Nail Disorder, Nonsyndromic Congenital, 3, also known as leukonychia totalis, is related to leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome and palmoplantar keratoderma and congenital alopecia 1. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 3 is PLCD1 (Phospholipase C Delta 1). Affiliated tissues include skin and kidney, and related phenotypes are abnormal fingernail morphology and nephrolithiasis GARD: 19 Leukonychia totalis is a nail condition characterized by complete whitening of the entire nail plate. It is usually inherited in an autosomal dominant manner. Less commonly, it may be inherited in an autosomal recessive manner, or acquired (not inherited) during a person's lifetime. The inherited forms can be caused by genetic changes in the PLCD1 gene and usually involve all 20 nails. UniProtKB/Swiss-Prot: 73 A nail disorder characterized by a white appearance of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia). 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). Orphanet: 58 Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. Disease Ontology: 11 A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. |
Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 3:58 30 (show all 10)
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Organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 3:
MalaCards :
Skin,
Kidney
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Articles related to Nail Disorder, Nonsyndromic Congenital, 3:(show top 50) (show all 72)
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Genes related to Nail Disorder, Nonsyndromic Congenital, 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 3:5
UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 3:73
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Search
GEO
for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 3.
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