NDNC3
MCID: NLD012
MIFTS: 32

Nail Disorder, Nonsyndromic Congenital, 3 (NDNC3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin 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 20 29 13
Leukonychia Totalis 20 58 73 29 6 39 71
Porcelain Nails 57 20 73
Ndnc3 57 20 73
Leukonychia Totalis and/or Partialis 57 73
Leukonychia Punctata 73 71
Leukonychia Striatus 73 71
Nail Disorder, Non-Syndromic Congenital, 3 73
Nonsyndromic Congenital Nail Disorder 3 12
Hereditary White Nails 20
Leukonychia Partialis 73
Total Leukonychia 20

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:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080081
OMIM® 57 151600
OMIM Phenotypic Series 57 PS161050
MeSH 44 D009260
MESH via Orphanet 45 C535889
ICD10 via Orphanet 33 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 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).

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 29)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma and congenital alopecia 1 11.5
2 basaran yilmaz syndrome 11.2
3 flotch syndrome 11.2
4 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 11.2
5 keratosis 10.3
6 hypotrichosis 10.3
7 immune deficiency disease 10.1
8 kawasaki disease 10.1
9 alopecia areata 10.0
10 acanthosis nigricans 10.0
11 knuckle pads 10.0
12 bart-pumphrey syndrome 10.0
13 steatocystoma multiplex 10.0
14 lowry-wood syndrome 10.0
15 renal glucosuria 10.0
16 alopecia, congenital 10.0
17 gallbladder disease 1 10.0
18 branchiootic syndrome 1 10.0
19 reflex sympathetic dystrophy 10.0
20 sensorineural hearing loss 10.0
21 multiple epiphyseal dysplasia 10.0
22 algoneurodystrophy 10.0
23 duodenal ulcer 10.0
24 ectodermal dysplasia 10.0
25 palmoplantar keratosis 10.0
26 congenital nystagmus 10.0
27 pathologic nystagmus 10.0
28 alopecia 10.0
29 nail disease 10.0

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 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal fingernail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001231
2 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
3 adenoma sebaceum 58 31 hallmark (90%) Very frequent (99-80%) HP:0009720
4 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
5 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
6 blepharitis 58 31 frequent (33%) Frequent (79-30%) HP:0000498
7 abnormal eyelash morphology 31 frequent (33%) HP:0000499
8 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
9 abnormality of the eyelashes 58 Frequent (79-30%)
10 concave nail 31 HP:0001598
11 leukonychia 31 HP:0001820

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin Nails Hair Nails:
leukonychia totalis
leukonychia partialis
leukonychia striata
leukonychia punctata

Clinical features from OMIM®:

151600 (Updated 05-Mar-2021)

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 29 PLCD1
2 Nail Disorder, Nonsyndromic Congenital, 3, (leukonychia) 29

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 3

Publications for Nail Disorder, Nonsyndromic Congenital, 3

Articles related to Nail Disorder, Nonsyndromic Congenital, 3:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. 6 57
21665001 2011
2
Familial leukonychia totalis. 57 61
9833061 1998
3
Congenital leukonychia totalis in two brothers. 61 57
9534904 1998
4
Leukonychia totalis in two sibs. 57 61
8256820 1993
5
Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. 61 57
3760284 1986
6
Leukonychia partialis. A phase of leukonychia totalis. 61 57
6177474 1982
7
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. 57 61
1147634 1975
8
Congenital leukonychia. 57
9738798 1998
9
Leukonychia. Review and classification. 57
2242939 1990
10
Congenital leukonychia striata. 57
2438090 1987
11
[The FLOTCH syndrome. Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity]. 57
3813407 1986
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. 61
33534174 2021
19
Idiopathic Acquired True Leukonychia Totalis and Partialis: Two Case Reports. 61
33344374 2020
20
Hereditary Leukonychia Totalis: A Case Report and Review of the Literature. 61
29805369 2018
21
Terry's Nails: A Sign of Systemic Disease. 61
28584375 2017
22
[Leukonychia totalis]. 61
26676417 2016
23
Idiopathic Acquired True Leukonychia Totalis. 61
26955163 2016
24
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 61
26370416 2015
25
Idiopathic acquired leukonychia totalis of the fingernails in a child treated successfully with zinc and amino acid supplementation. 61
25733323 2015
26
An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. 61
27172289 2015
27
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 61
25168385 2015
28
Idiopathic congenital true leukonychia totalis. 61
25506576 2014
29
Idiopathic acquired true leukonychia totalis. 61
22937758 2014
30
Idiopathic acquired true leukonychia totalis and partialis. 61
24882988 2014
31
Pathological fractures as an initial presentation of Wilson's disease. 61
23576656 2013
32
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? 61
21659070 2011
33
Congenital isolated leukonychia totalis in three Egyptian sibs. 61
21412976 2011
34
A case of hereditary leukonychia totalis and partialis. 61
21244395 2011
35
A family with leukonychia totalis. 61
20418990 2010
36
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? 61
19401242 2009
37
Idiopathic acquired leukonychia in a 34-year-old patient. 61
19707480 2009
38
Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. 61
17958875 2007
39
Hereditary leukonychia totalis. 61
17921625 2007
40
Images in clinical medicine. Acquired leukonychia totalis. 61
16837673 2006
41
Idiopathic leukonychia totalis and partialis in a 12-year-old patient. 61
11174421 2001
42
Leuconychia totalis. 61
20877113 2000
43
A syndrome of leukonychia totalis and multiple sebaceous cysts. 61
9220192 1997
44
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? 61
7577599 1995
45
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? 61
7747786 1995
46
Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. 61
8340192 1993
47
Leukonychia totalis. 61
3794502 1986
48
Idiopathic leukonychia totalis and partialis. 61
4031150 1985
49
[Leukonychia totalis and ectodermal dysplasia. Report of 2 cases]. 61
6229210 1983
50
Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. 61
6961300 1982

Variations for Nail Disorder, Nonsyndromic Congenital, 3

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

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLCD1 NM_006225.4(PLCD1):c.1724-5_1728del Deletion Pathogenic 30240 rs1210583991 3:38050123-38050132 3:38008632-38008641
2 PLCD1 NM_006225.4(PLCD1):c.1246C>T (p.Arg416Ter) SNV Pathogenic 30239 rs397514470 3:38051436-38051436 3:38009945-38009945
3 PLCD1 NM_006225.4(PLCD1):c.1657G>A (p.Ala553Thr) SNV Pathogenic 30241 rs375683615 3:38050599-38050599 3:38009108-38009108
4 PLCD1 NM_006225.4(PLCD1):c.562T>C (p.Cys188Arg) SNV Pathogenic 30242 rs397514471 3:38052933-38052933 3:38011442-38011442

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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