MCID: NLD008
MIFTS: 19

Nail Disorder, Nonsyndromic Congenital, 3,

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 3,

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 3,:

Name: Nail Disorder, Nonsyndromic Congenital, 3, 54 13
Leukonychia Totalis 56 71 69
Leukonychia Punctata 71 69
Leukonychia Striatus 71 69
Nail Disorder, Non-Syndromic Congenital, 3 71
Nonsyndromic Congenital Nail Disorder 3 12
Leukonychia Totalis and/or Partialis 71
Leukonychia Partialis 71
Porcelain Nails 71
Ndnc3 71

Characteristics:

OMIM:

54
Miscellaneous:
nails may be intermittently involved
variable number of nails involved

Inheritance:
autosomal recessive
autosomal dominant


HPO:

32
nail disorder, nonsyndromic congenital, 3,:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 151600
Disease Ontology 12 DOID:0080081
Orphanet 56 ORPHA2387
MESH via Orphanet 43 C535889
UMLS via Orphanet 70 C0544855
ICD10 via Orphanet 34 Q84.4
MeSH 42 D009260

Summaries for Nail Disorder, Nonsyndromic Congenital, 3,

OMIM : 54
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)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 3,, also known as leukonychia totalis, is related to leukonychia totalis, and has symptoms including nephrolithiasis, photophobia and blepharitis. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 3, is PLCD1 (Phospholipase C Delta 1). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 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).

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 3,

Diseases in the Nail Disease family:

Nail Disorder, Nonsyndromic Congenital, 3, Nail Disorder, Nonsyndromic Congenital, 10,
Nail Disorder, Nonsyndromic Congenital, 7 Nail Disorder, Nonsyndromic Congenital, 9
Nail Disorder, Nonsyndromic Congenital, 1 Nonsyndromic Congenital Nail Disorder 2
Nonsyndromic Congenital Nail Disorder 5 Nonsyndromic Congenital Nail Disorder 6

Diseases related to Nail Disorder, Nonsyndromic Congenital, 3, via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 leukonychia totalis 11.1

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 3,

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
leukonychia punctata
leukonychia striata
leukonychia totalis
leukonychia partialis


Clinical features from OMIM:

151600

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 3,:

56 32 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 56 32 Very frequent (99-80%) HP:0000787
2 photophobia 56 Frequent (79-30%)
3 blepharitis 56 Frequent (79-30%)
4 leukonychia 32 HP:0001820
5 type ii diabetes mellitus 56 Occasional (29-5%)
6 abnormality of the fingernails 56 Very frequent (99-80%)
7 abnormality of the eyelashes 56 Frequent (79-30%)
8 adenoma sebaceum 56 Very frequent (99-80%)
9 abnormality of the toenails 56 Very frequent (99-80%)
10 concave nail 32 HP:0001598

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 3,

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 3,

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 3,

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 3,

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 3,:

39
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 3,

Variations for Nail Disorder, Nonsyndromic Congenital, 3,

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 3,:

71
id Symbol AA change Variation ID SNP ID
1 PLCD1 p.Thr209Arg VAR_066399
2 PLCD1 p.Ile574Thr VAR_066400

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 3,:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PLCD1 NM_006225.3(PLCD1): c.1246C> T (p.Arg416Ter) single nucleotide variant Pathogenic rs397514470 GRCh38 Chromosome 3, 38009945: 38009945
2 PLCD1 PLCD1, 10-BP DEL, NT1792 deletion Pathogenic
3 PLCD1 NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr) single nucleotide variant Pathogenic rs375683615 GRCh37 Chromosome 3, 38050599: 38050599
4 PLCD1 NM_006225.3(PLCD1): c.562T> C (p.Cys188Arg) single nucleotide variant Pathogenic rs397514471 GRCh37 Chromosome 3, 38052933: 38052933

Expression for Nail Disorder, Nonsyndromic Congenital, 3,

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 3,.

Pathways for Nail Disorder, Nonsyndromic Congenital, 3,

GO Terms for Nail Disorder, Nonsyndromic Congenital, 3,

Sources for Nail Disorder, Nonsyndromic Congenital, 3,

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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