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NDNC3
MCID: NLD012
MIFTS: 32
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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:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive autosomal dominant
Miscellaneous:
variable number of nails involved nails may be intermittently involved HPO:31
nail disorder, nonsyndromic congenital, 3:
Inheritance autosomal dominant inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Bone diseases
ICD10:
33
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 05-Mar-2021)
MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 3, also known as leukonychia totalis, is related to palmoplantar keratoderma and congenital alopecia 1 and basaran yilmaz syndrome. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 3 is PLCD1 (Phospholipase C Delta 1). Related phenotypes are abnormal fingernail morphology and nephrolithiasis Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. GARD : 20 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 mutations in the PLCD1 gene and generally involve the entire plate of all 20 nails. In some cases, leukonychia totalis has been associated with various other abnormalities or syndromes. Treatment may focus on the underlying cause when it is associated with another condition. UniProtKB/Swiss-Prot : 73 Nail disorder, non-syndromic congenital, 3: 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). |
Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 3:58 31 (show all 11)
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Articles related to Nail Disorder, Nonsyndromic Congenital, 3:(show top 50) (show all 53)
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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, 3:6
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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