MCID: NLD012
MIFTS: 26

Nail Disorder, Nonsyndromic Congenital, 3

Categories: Genetic diseases, Skin diseases, Rare diseases, Fetal diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 3

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

Name: Nail Disorder, Nonsyndromic Congenital, 3 57
Leukonychia Totalis 59 75 73
Nail Disorder, Nonsyndromic Congenital, 3, 57 13
Leukonychia Totalis and/or Partialis 57 75
Leukonychia Punctata 75 73
Leukonychia Striatus 75 73
Porcelain Nails 57 75
Ndnc3 57 75
Nail Disorder, Non-Syndromic Congenital, 3 75
Nonsyndromic Congenital Nail Disorder 3 12
Leukonychia Partialis 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

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


HPO:

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


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 151600
Disease Ontology 12 DOID:0080081
Orphanet 59 ORPHA2387
MESH via Orphanet 45 C535889
UMLS via Orphanet 74 C0544855
ICD10 via Orphanet 34 Q84.4
MeSH 44 D009260

Summaries for Nail Disorder, Nonsyndromic Congenital, 3

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)

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

UniProtKB/Swiss-Prot : 75 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

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 3

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
leukonychia totalis
leukonychia partialis
leukonychia striata
leukonychia punctata


Clinical features from OMIM:

151600

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

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 59 32 Very frequent (99-80%) HP:0000787
2 blepharitis 59 Frequent (79-30%)
3 abnormality of the eyelashes 59 Frequent (79-30%)
4 photophobia 59 Frequent (79-30%)
5 abnormality of the fingernails 59 Very frequent (99-80%)
6 type ii diabetes mellitus 59 Occasional (29-5%)
7 abnormality of the toenails 59 Very frequent (99-80%)
8 adenoma sebaceum 59 Very frequent (99-80%)
9 concave nail 32 HP:0001598
10 leukonychia 32 HP:0001820

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:

41
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 3

Articles related to Nail Disorder, Nonsyndromic Congenital, 3:

(show all 33)
# Title Authors Year
1
Hereditary Leukonychia Totalis: A Case Report and Review of the Literature. ( 29805369 )
2018
2
Idiopathic Acquired True Leukonychia Totalis. ( 26955163 )
2016
3
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )
2015
4
Idiopathic Acquired Leukonychia Totalis of the Fingernails in a Child Treated Successfully with Zinc and Amino Acid Supplementation. ( 25733323 )
2015
5
An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. ( 27172289 )
2015
6
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 25168385 )
2014
7
Idiopathic congenital true leukonychia totalis. ( 25506576 )
2014
8
Idiopathic acquired true leukonychia totalis and partialis. ( 24882988 )
2014
9
Idiopathic Acquired True Leukonychia Totalis. ( 22937758 )
2012
10
A case of hereditary leukonychia totalis and partialis. ( 21244395 )
2011
11
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? ( 21659070 )
2011
12
Congenital isolated leukonychia totalis in three Egyptian sibs. ( 21412976 )
2011
13
A family with leukonychia totalis. ( 20418990 )
2010
14
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? ( 19401242 )
2009
15
Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. ( 17958875 )
2007
16
Hereditary leukonychia totalis. ( 17921625 )
2007
17
Images in clinical medicine. Acquired leukonychia totalis. ( 16837673 )
2006
18
Idiopathic leukonychia totalis and partialis in a 12-year-old patient. ( 11174421 )
2001
19
Congenital leukonychia totalis in two brothers. ( 9534904 )
1998
20
Familial leukonychia totalis. ( 9833061 )
1998
21
A syndrome of leukonychia totalis and multiple sebaceous cysts. ( 9220192 )
1997
22
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ( 7747786 )
1995
23
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? ( 7577599 )
1995
24
Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. ( 8340192 )
1993
25
Leukonychia totalis in two sibs. ( 8256820 )
1993
26
Leukonychia totalis. ( 3794502 )
1986
27
Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. ( 3760284 )
1986
28
Idiopathic leukonychia totalis and partialis. ( 4031150 )
1985
29
Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. ( 6961300 )
1982
30
Leukonychia partialis. A phase of leukonychia totalis. ( 6177474 )
1982
31
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. ( 1147634 )
1975
32
Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome. ( 1218212 )
1975
33
Leukonychia totalis; review and report of a case. ( 18153875 )
1949

Variations for Nail Disorder, Nonsyndromic Congenital, 3

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 PLCD1 NM_006225.3(PLCD1): c.1246C> T (p.Arg416Ter) single nucleotide variant Pathogenic rs397514470 GRCh37 Chromosome 3, 38051436: 38051436
2 PLCD1 NM_006225.3(PLCD1): c.1246C> T (p.Arg416Ter) single nucleotide variant Pathogenic rs397514470 GRCh38 Chromosome 3, 38009945: 38009945
3 PLCD1 PLCD1, 10-BP DEL, NT1792 deletion Pathogenic
4 PLCD1 NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr) single nucleotide variant Pathogenic rs375683615 GRCh37 Chromosome 3, 38050599: 38050599
5 PLCD1 NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr) single nucleotide variant Pathogenic rs375683615 GRCh38 Chromosome 3, 38009108: 38009108
6 PLCD1 NM_006225.3(PLCD1): c.562T> C (p.Cys188Arg) single nucleotide variant Pathogenic rs397514471 GRCh37 Chromosome 3, 38052933: 38052933
7 PLCD1 NM_006225.3(PLCD1): c.562T> C (p.Cys188Arg) single nucleotide variant Pathogenic rs397514471 GRCh38 Chromosome 3, 38011442: 38011442

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
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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