Nail Disorder, Nonsyndromic Congenital, 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NDNC3 MCID: NLD012 MIFTS: 30	Nail Disorder, Nonsyndromic Congenital, 3 (NDNC3) Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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 ⁵⁸

Leukonychia Totalis ⁶⁰ ⁷⁶ ⁷⁴

Nail Disorder, Nonsyndromic Congenital, 3, ⁵⁸ ¹³

Leukonychia Totalis and/or Partialis ⁵⁸ ⁷⁶

Leukonychia Punctata ⁷⁶ ⁷⁴

Leukonychia Striatus ⁷⁶ ⁷⁴

Porcelain Nails ⁵⁸ ⁷⁶

Ndnc3 ⁵⁸ ⁷⁶

Nail Disorder, Non-Syndromic Congenital, 3 ⁷⁶

Nonsyndromic Congenital Nail Disorder 3 ¹²

Leukonychia Partialis ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive
autosomal dominant

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

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of integument

Congenital leukonychia

Orphanet: ⁶⁰

Rare skin diseases

External Ids:

Disease Ontology ¹² DOID:0080081

OMIM ⁵⁸ 151600

MeSH ⁴⁵ D009260

MESH via Orphanet ⁴⁶ C535889

ICD10 via Orphanet ³⁵ Q84.4

UMLS via Orphanet ⁷⁵ C0544855

Orphanet ⁶⁰ ORPHA2387

MedGen ⁴³ C0263532 C0544855 C3276977

SNOMED-CT via HPO ⁷⁰ 111202002 258211005 263681008 more

UMLS ⁷⁴ C0263532 C0544855 C3276977

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Summaries for Nail Disorder, Nonsyndromic Congenital, 3

OMIM : ⁵⁸ 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 bone, and related phenotypes are nephrolithiasis and type ii diabetes mellitus

UniProtKB/Swiss-Prot : ⁷⁶ 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).

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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	Nail Disorder, Nonsyndromic Congenital, 10

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

(show all 18)

#	Related Disease	Score
1	leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	12.4
2	palmoplantar keratoderma and congenital alopecia 1	11.8
3	basaran yilmaz syndrome	11.7
4	flotch syndrome	11.7
5	leukonychia totalis	11.4
6	hypotrichosis	10.3
7	alopecia	10.2
8	alopecia areata	10.2
9	acanthosis nigricans	10.1
10	epiphyseal dysplasia, microcephaly, and nystagmus	10.1
11	gallbladder disease 1	10.1
12	reflex sympathetic dystrophy	10.1
13	multiple epiphyseal dysplasia	10.1
14	algoneurodystrophy	10.1
15	keratosis	10.1
16	duodenal ulcer	10.1
17	congenital nystagmus	10.1
18	pathologic nystagmus	10.1

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

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Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 3

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

⁶⁰ ³³ (show all 10)

#	Description	Orphanet Frequency	HPO Source Accession
1	nephrolithiasis ⁶⁰ ³³	Very frequent (99-80%)	HP:0000787
2	type ii diabetes mellitus ⁶⁰	Occasional (29-5%)
3	photophobia ⁶⁰	Frequent (79-30%)
4	abnormality of the fingernails ⁶⁰	Very frequent (99-80%)
5	abnormality of the eyelashes ⁶⁰	Frequent (79-30%)
6	blepharitis ⁶⁰	Frequent (79-30%)
7	adenoma sebaceum ⁶⁰	Very frequent (99-80%)
8	abnormal toenail morphology ⁶⁰	Very frequent (99-80%)
9	concave nail ³³		HP:0001598
10	leukonychia ³³		HP:0001820

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Clinical features from OMIM:

151600

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Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 3

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

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Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 3

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Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 3

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

⁴²

Skin, Bone

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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 )	Pakornphadungsit K...Chayavichitsilp P	2018
2	Idiopathic Acquired True Leukonychia Totalis. ( 26955163 )	Das A...Podder I	2016
3	Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 25168385 )	Wang H...Yang Y	2015
4	Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )	Wang H...Yang Y	2015
5	Idiopathic acquired leukonychia totalis of the fingernails in a child treated successfully with zinc and amino acid supplementation. ( 25733323 )	D'Souza P...Chowdhry S	2015
6	An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. ( 27172289 )	Canavan T...Elewski B	2015
7	Idiopathic acquired true leukonychia totalis. ( 22937758 )	Bakry OA...Shehata WA	2014
8	Idiopathic acquired true leukonychia totalis and partialis. ( 24882988 )	Kim SW...Son SJ	2014
9	Idiopathic congenital true leukonychia totalis. ( 25506576 )	Ganesh A...Priyanka G	2014
10	Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? ( 21659070 )	Rodr?guez-Lojo R...P?rez-Varela L	2011
11	A case of hereditary leukonychia totalis and partialis. ( 21244395 )	Lee YB...Cho BK	2011
12	Congenital isolated leukonychia totalis in three Egyptian sibs. ( 21412976 )	Afifi HH...Zaki MS	2011
13	A family with leukonychia totalis. ( 20418990 )	Balighi K...Ahmadreza R	2010
14	Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? ( 19401242 )	Le Corre Y...Le Clech C	2009
15	Hereditary leukonychia totalis. ( 17921625 )	De D...Handa S	2007
16	Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. ( 17958875 )	Duman I...Dincer K	2007
17	Images in clinical medicine. Acquired leukonychia totalis. ( 16837673 )	Antonarakis ES	2006
18	Idiopathic leukonychia totalis and partialis in a 12-year-old patient. ( 11174421 )	Claudel CD...Boyd AS	2001
19	Congenital leukonychia totalis in two brothers. ( 9534904 )	K?hler LD...Ring J	1998
20	Familial leukonychia totalis. ( 9833061 )	Grosshans EM	1998
21	A syndrome of leukonychia totalis and multiple sebaceous cysts. ( 9220192 )	Slee JJ...Goldblatt J	1997
22	Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ( 7747786 )	Yamamoto T...Takahashi Y	1995
23	Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? ( 7577599 )	Ba?aran E...Yilmaz GG	1995
24	Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. ( 8340192 )	Galadari I...Mohsen S	1993
25	Leukonychia totalis in two sibs. ( 8256820 )	Frydman M...Cohen HA	1993
26	Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. ( 3760284 )	Bettoli V...Tosti A	1986
27	Leukonychia totalis. ( 3794502 )	Kates SL...Nagle DJ	1986
28	Idiopathic leukonychia totalis and partialis. ( 4031150 )	Stewart L...Lim HW	1985
29	Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. ( 6961300 )	Ingegno AP...Yatto RP	1982
30	Leukonychia partialis. A phase of leukonychia totalis. ( 6177474 )	Butterworth T	1982
31	Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. ( 1147634 )	Bushkell LL...Gorlin RJ	1975
32	Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome. ( 1218212 )	Gorlin RJ...Jensen G	1975
33	Leukonychia totalis; review and report of a case. ( 18153875 )	STUBENBORD JG	1949

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Genes for Nail Disorder, Nonsyndromic Congenital, 3

Genes related to Nail Disorder, Nonsyndromic Congenital, 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PLCD1	Phospholipase C Delta 1	Protein Coding	1550	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶

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Variations for Nail Disorder, Nonsyndromic Congenital, 3

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

⁷⁶

#	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	NM_006225.3(PLCD1): c.1724-5_1728del	deletion	Pathogenic		GRCh38	Chromosome 3, 38008632: 38008641
4	PLCD1	NM_006225.3(PLCD1): c.1724-5_1728del	deletion	Pathogenic		GRCh37	Chromosome 3, 38050123: 38050132
5	PLCD1	NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr)	single nucleotide variant	Pathogenic	rs375683615	GRCh37	Chromosome 3, 38050599: 38050599
6	PLCD1	NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr)	single nucleotide variant	Pathogenic	rs375683615	GRCh38	Chromosome 3, 38009108: 38009108
7	PLCD1	NM_006225.3(PLCD1): c.562T> C (p.Cys188Arg)	single nucleotide variant	Pathogenic	rs397514471	GRCh37	Chromosome 3, 38052933: 38052933
8	PLCD1	NM_006225.3(PLCD1): c.562T> C (p.Cys188Arg)	single nucleotide variant	Pathogenic	rs397514471	GRCh38	Chromosome 3, 38011442: 38011442

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Expression for Nail Disorder, Nonsyndromic Congenital, 3

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

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Pathways for Nail Disorder, Nonsyndromic Congenital, 3

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GO Terms for Nail Disorder, Nonsyndromic Congenital, 3

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Sources for Nail Disorder, Nonsyndromic Congenital, 3

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²¹ GeneAnalytics

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²⁴ GeneHancer via GeneCards

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²⁶ Genetics Home Reference

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³¹ HGMD

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³⁴ ICD10

³⁵ ICD10 via Orphanet

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³⁷ IUPHAR

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³⁹ LifeMap

⁴⁰ LncRNADisease

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⁴² MalaCards

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⁴⁵ MeSH

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Nail Disorder, Nonsyndromic Congenital, 3 (NDNC3)

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 3

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Nail Disorder, Nonsyndromic Congenital, 3

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 3

Diseases in the Nail Disease family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Nail Disorder, Nonsyndromic Congenital, 3

Articles related to Nail Disorder, Nonsyndromic Congenital, 3:

Genes for Nail Disorder, Nonsyndromic Congenital, 3

Genes related to Nail Disorder, Nonsyndromic Congenital, 3 (1 elite genes):

Variations for Nail Disorder, Nonsyndromic Congenital, 3

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

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

Expression 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