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 56 52
Leukonychia Totalis 52 58 73 29 6 39 71
Nail Disorder, Nonsyndromic Congenital, 3, 56 29 13
Porcelain Nails 56 52 73
Ndnc3 56 52 73
Leukonychia Totalis and/or Partialis 56 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 52
Leukonychia Partialis 73
Total Leukonychia 52

Characteristics:

OMIM:

56
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 56 151600
OMIM Phenotypic Series 56 PS161050
MeSH 43 D009260
MESH via Orphanet 44 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 : 56 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-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 related phenotypes are nephrolithiasis and adenoma sebaceum

Disease Ontology : 12 A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails.

NIH Rare Diseases : 52 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 32)
# Related Disease Score Top Affiliating Genes
1 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 12.5
2 palmoplantar keratoderma and congenital alopecia 1 12.0
3 basaran yilmaz syndrome 11.8
4 flotch syndrome 11.8
5 keratosis 10.5
6 hypotrichosis 10.4
7 pustulosis of palm and sole 10.2
8 psoriasis 10.2
9 alopecia areata 10.2
10 kawasaki disease 10.2
11 acanthosis nigricans 10.2
12 knuckle pads 10.2
13 bart-pumphrey syndrome 10.2
14 steatocystoma multiplex 10.2
15 epiphyseal dysplasia, microcephaly, and nystagmus 10.2
16 renal glucosuria 10.2
17 alopecia, congenital 10.2
18 gallbladder disease 1 10.2
19 branchiootic syndrome 1 10.2
20 reflex sympathetic dystrophy 10.2
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
22 sensorineural hearing loss 10.2
23 multiple epiphyseal dysplasia 10.2
24 algoneurodystrophy 10.2
25 duodenal ulcer 10.2
26 ectodermal dysplasia 10.2
27 palmoplantar keratosis 10.2
28 congenital nystagmus 10.2
29 pathologic nystagmus 10.2
30 alopecia 10.2
31 immune deficiency disease 10.1
32 nail 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 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nephrolithiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000787
2 adenoma sebaceum 58 31 hallmark (90%) Very frequent (99-80%) HP:0009720
3 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
4 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
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 fingernails 58 Very frequent (99-80%)
10 abnormality of the eyelashes 58 Frequent (79-30%)
11 concave nail 31 HP:0001598
12 leukonychia 31 HP:0001820

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Nails:
leukonychia totalis
leukonychia partialis
leukonychia striata
leukonychia punctata

Clinical features from OMIM:

151600

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

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

40
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 3

Articles related to Nail Disorder, Nonsyndromic Congenital, 3:

(show top 50) (show all 51)
# Title Authors PMID Year
1
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. 6 56
21665001 2011
2
Familial leukonychia totalis. 61 56
9833061 1998
3
Congenital leukonychia totalis in two brothers. 61 56
9534904 1998
4
Leukonychia totalis in two sibs. 56 61
8256820 1993
5
Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. 61 56
3760284 1986
6
Leukonychia partialis. A phase of leukonychia totalis. 56 61
6177474 1982
7
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. 56 61
1147634 1975
8
Congenital leukonychia. 56
9738798 1998
9
Leukonychia. Review and classification. 56
2242939 1990
10
Congenital leukonychia striata. 56
2438090 1987
11
[The FLOTCH syndrome. Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity]. 56
3813407 1986
12
Leukonychia striata longitudinalis. 56
5093172 1971
13
LEUKONYCHIA. TOTAL AND PARTIAL LEUKONYCHIA IN A SINGLE FAMILY WITH A REVIEW OF THE LITERATURE. 56
14184483 1964
14
WHITE FINGERNAILS. 56
14160126 1964
15
Hereditary leukonychia. 56
13957988 1963
16
A clinical study of leukonychia. 56
13032322 1953
17
Hereditary leuconychia totalis. 56
14880728 1951
18
Hereditary Leukonychia Totalis: A Case Report and Review of the Literature. 61
29805369 2018
19
Terry's Nails: A Sign of Systemic Disease. 61
28584375 2017
20
[Leukonychia totalis]. 61
26676417 2016
21
Idiopathic Acquired True Leukonychia Totalis. 61
26955163 2016
22
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 61
26370416 2015
23
Idiopathic acquired leukonychia totalis of the fingernails in a child treated successfully with zinc and amino acid supplementation. 61
25733323 2015
24
An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. 61
27172289 2015
25
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. 61
25168385 2015
26
Idiopathic congenital true leukonychia totalis. 61
25506576 2014
27
Idiopathic acquired true leukonychia totalis. 61
22937758 2014
28
Idiopathic acquired true leukonychia totalis and partialis. 61
24882988 2014
29
Pathological fractures as an initial presentation of Wilson's disease. 61
23576656 2013
30
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? 61
21659070 2011
31
Congenital isolated leukonychia totalis in three Egyptian sibs. 61
21412976 2011
32
A case of hereditary leukonychia totalis and partialis. 61
21244395 2011
33
A family with leukonychia totalis. 61
20418990 2010
34
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? 61
19401242 2009
35
Idiopathic acquired leukonychia in a 34-year-old patient. 61
19707480 2009
36
Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. 61
17958875 2007
37
Hereditary leukonychia totalis. 61
17921625 2007
38
Images in clinical medicine. Acquired leukonychia totalis. 61
16837673 2006
39
Idiopathic leukonychia totalis and partialis in a 12-year-old patient. 61
11174421 2001
40
Leuconychia totalis. 61
20877113 2000
41
A syndrome of leukonychia totalis and multiple sebaceous cysts. 61
9220192 1997
42
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? 61
7577599 1995
43
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? 61
7747786 1995
44
Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. 61
8340192 1993
45
Leukonychia totalis. 61
3794502 1986
46
Idiopathic leukonychia totalis and partialis. 61
4031150 1985
47
[Leukonychia totalis and ectodermal dysplasia. Report of 2 cases]. 61
6229210 1983
48
Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. 61
6961300 1982
49
Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome. 61
1218212 1975
50
[Leukonychia. A review with special discussion of leukonychia totalis hereditaria]. 61
4881648 1968

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.1246C>T (p.Arg416Ter)SNV Pathogenic 30239 rs397514470 3:38051436-38051436 3:38009945-38009945
2 PLCD1 NM_006225.4(PLCD1):c.1724-5_1728deldeletion Pathogenic 30240 rs1210583991 3:38050123-38050132 3:38008632-38008641
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

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