NDNC3
MCID: NLD012
MIFTS: 35

Nail Disorder, Nonsyndromic Congenital, 3 (NDNC3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 3

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

Name: Nail Disorder, Nonsyndromic Congenital, 3 57 19 28 38
Leukonychia Totalis 19 58 73 28 5 71
Porcelain Nails 57 19 73
Ndnc3 57 19 73
Nonsyndromic Congenital Nail Disorder 3 11 5
Leukonychia Totalis and/or Partialis 57 73
Leukonychia Punctata 73 71
Leukonychia Striatus 73 71
Nail Disorder, Non-Syndromic Congenital, 3 73
Hereditary White Nails 19
Leukonychia Partialis 73
Total Leukonychia 19

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:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0080081
OMIM® 57 151600
OMIM Phenotypic Series 57 PS161050
MeSH 43 D009260
MESH via Orphanet 44 C535889
ICD10 via Orphanet 32 Q84.4
UMLS via Orphanet 72 C0544855
Orphanet 58 ORPHA2387
UMLS 71 C0263532 C0544855 C3276977

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) (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.

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 3

Diseases in the Nail Disease family:

Nail Disorder, Nonsyndromic Congenital, 6 Nail Disorder, Nonsyndromic Congenital, 2
Nail Disorder, Nonsyndromic Congenital, 3 Nail Disorder, Nonsyndromic Congenital, 1
Nail Disorder, Nonsyndromic Congenital, 5 Nail Disorder, Nonsyndromic Congenital, 4
Nail Disorder, Nonsyndromic Congenital, 7 Nail Disorder, Nonsyndromic Congenital, 8
Nail Disorder, Nonsyndromic Congenital, 9 Nonsyndromic Congenital Nail Disorder

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 11.6
2 palmoplantar keratoderma and congenital alopecia 1 11.5
3 basaran yilmaz syndrome 11.3
4 flotch syndrome 11.3
5 steatocystoma multiplex 10.3
6 hypotrichosis 7 10.3
7 hypotrichosis 10.3
8 nephrolithiasis, calcium oxalate 10.2
9 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
10 keratosis 10.2
11 immune deficiency disease 10.1
12 kawasaki disease 10.1
13 alopecia areata 10.1
14 acanthosis nigricans 10.0
15 knuckle pads 10.0
16 bart-pumphrey syndrome 10.0
17 corpus callosum, agenesis of 10.0
18 lowry-wood syndrome 10.0
19 renal glucosuria 10.0
20 ataxia with vitamin e deficiency 10.0
21 alopecia, congenital 10.0
22 gallbladder disease 1 10.0
23 reflex sympathetic dystrophy 10.0
24 sensorineural hearing loss 10.0
25 multiple epiphyseal dysplasia 10.0
26 duodenal ulcer 10.0
27 ectodermal dysplasia 10.0
28 complex regional pain syndrome 10.0
29 palmoplantar keratosis 10.0
30 congenital nystagmus 10.0
31 pathologic nystagmus 10.0
32 alopecia 10.0
33 pigmentation anomaly of the skin 10.0
34 nail disease 10.0
35 viral infectious disease 9.9

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 3:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 3

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 3

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

58 30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal fingernail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001231
2 nephrolithiasis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000787
3 adenoma sebaceum 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009720
4 abnormal toenail morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008388
5 photophobia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000613
6 abnormal eyelash morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0000499
7 blepharitis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000498
8 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
9 concave nail 30 HP:0001598
10 leukonychia 30 HP:0001820

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skin Nails Hair Nails:
leukonychia totalis
leukonychia partialis
leukonychia striata
leukonychia punctata

Clinical features from OMIM®:

151600 (Updated 24-Oct-2022)

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

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 3:

# Genetic test Affiliating Genes
1 Leukonychia Totalis 28
2 Nail Disorder, Nonsyndromic Congenital, 3, (leukonychia) 28

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 3

Organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 3:

MalaCards : Skin, Kidney
ODiseA: Kidney

Publications for Nail Disorder, Nonsyndromic Congenital, 3

Articles related to Nail Disorder, Nonsyndromic Congenital, 3:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. 62 57 5
21665001 2011
2
Familial leukonychia totalis. 62 57
9833061 1998
3
Congenital leukonychia totalis in two brothers. 62 57
9534904 1998
4
Leukonychia totalis in two sibs. 62 57
8256820 1993
5
Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. 62 57
3760284 1986
6
[The FLOTCH syndrome. Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity]. 62 57
3813407 1986
7
Leukonychia partialis. A phase of leukonychia totalis. 62 57
6177474 1982
8
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. 62 57
1147634 1975
9
Congenital leukonychia. 57
9738798 1998
10
Leukonychia. Review and classification. 57
2242939 1990
11
Congenital leukonychia striata. 57
2438090 1987
12
Leukonychia striata longitudinalis. 57
5093172 1971
13
LEUKONYCHIA. TOTAL AND PARTIAL LEUKONYCHIA IN A SINGLE FAMILY WITH A REVIEW OF THE LITERATURE. 57
14184483 1964
14
WHITE FINGERNAILS. 57
14160126 1964
15
Hereditary leukonychia. 57
13957988 1963
16
A clinical study of leukonychia. 57
13032322 1953
17
Hereditary leuconychia totalis. 57
14880728 1951
18
A case of idiopathic acquired leukonychia totalis in a 17-year-old boy. 62
33534174 2021
19
Idiopathic Acquired True Leukonychia Totalis and Partialis: Two Case Reports. 62
33344374 2020
20
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family. 62
30033443 2018
21
Allergic Contact Dermatitis Caused by Acrylates in Long-Lasting Nail Polish. 62
29108646 2018
22
Hereditary Leukonychia Totalis: A Case Report and Review of the Literature. 62
29805369 2018
23
Terry's Nails: A Sign of Systemic Disease. 62
28584375 2017
24
[Leukonychia totalis]. 62
26676417 2016
25
Idiopathic Acquired True Leukonychia Totalis. 62
26955163 2016
26
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 62
26370416 2015
27
Idiopathic acquired leukonychia totalis of the fingernails in a child treated successfully with zinc and amino acid supplementation. 62
25733323 2015
28
An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. 62
27172289 2015
29
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 62
25168385 2015
30
Idiopathic congenital true leukonychia totalis. 62
25506576 2014
31
Idiopathic acquired true leukonychia totalis. 62
22937758 2014
32
Idiopathic acquired true leukonychia totalis and partialis. 62
24882988 2014
33
Pathological fractures as an initial presentation of Wilson's disease. 62
23576656 2013
34
Acquired total leukonychia in a patient with human immunodeficiency virus infection. 62
23149050 2012
35
Acquired Total Leukonychia in a Patient With Human Immunodeficiency Virus Infection. 62
22749365 2012
36
Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia. 62
23149345 2012
37
Idiopathic acquired persistent true partial to total leukonychia. 62
22199074 2012
38
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? 62
21659070 2011
39
Congenital isolated leukonychia totalis in three Egyptian sibs. 62
21412976 2011
40
A case of hereditary leukonychia totalis and partialis. 62
21244395 2011
41
A family with leukonychia totalis. 62
20418990 2010
42
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? 62
19401242 2009
43
Idiopathic acquired leukonychia in a 34-year-old patient. 62
19707480 2009
44
Nail changes in chronic renal failure patients under haemodialysis. 62
18540986 2008
45
Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. 62
17958875 2007
46
Hereditary leukonychia totalis. 62
17921625 2007
47
Images in clinical medicine. Acquired leukonychia totalis. 62
16837673 2006
48
Occupational asthma due to acrylates in a graphic arts worker. 62
16540069 2006
49
Hereditary 'white nails': a genetic and structural study. 62
15270873 2004
50
[Sub-total hereditary leukonychia, histopathological and electron microscopy study of "milky" nails]. 62
12605159 2003

Variations for Nail Disorder, Nonsyndromic Congenital, 3

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLCD1 NM_006225.4(PLCD1):c.1246C>T (p.Arg416Ter) SNV Pathogenic
30239 rs397514470 GRCh37: 3:38051436-38051436
GRCh38: 3:38009945-38009945
2 PLCD1 NM_006225.4(PLCD1):c.1724-5_1728del DEL Pathogenic
30240 rs1210583991 GRCh37: 3:38050123-38050132
GRCh38: 3:38008632-38008641
3 PLCD1 NM_006225.4(PLCD1):c.1657G>A (p.Ala553Thr) SNV Pathogenic
30241 rs375683615 GRCh37: 3:38050599-38050599
GRCh38: 3:38009108-38009108
4 PLCD1 NM_006225.4(PLCD1):c.562T>C (p.Cys188Arg) SNV Pathogenic
30242 rs397514471 GRCh37: 3:38052933-38052933
GRCh38: 3:38011442-38011442
5 PLCD1 NM_006225.4(PLCD1):c.1016G>T (p.Cys339Phe) SNV Uncertain Significance
1333358 GRCh37: 3:38051743-38051743
GRCh38: 3:38010252-38010252

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

73
# Symbol AA change Variation ID SNP ID
1 PLCD1 p.Thr209Arg VAR_066399
2 PLCD1 p.Ile574Thr VAR_066400

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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