Aliases & Classifications for Leukonychia Totalis

MalaCards integrated aliases for Leukonychia Totalis:

Name: Leukonychia Totalis 54 30 6 41 74
Nail Disorder, Nonsyndromic Congenital, 3 54
Hereditary White Nails 54
Total Leukonychia 54
Porcelain Nails 54
Ndnc3 54

Classifications:



Summaries for Leukonychia Totalis

NIH Rare Diseases : 54 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.

MalaCards based summary : Leukonychia Totalis, also known as nail disorder, nonsyndromic congenital, 3, is related to nail disorder, nonsyndromic congenital, 3 and leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome. An important gene associated with Leukonychia Totalis is PLCD1 (Phospholipase C Delta 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Myometrial Relaxation and Contraction Pathways. Related phenotypes are nephrolithiasis and adenoma sebaceum

Related Diseases for Leukonychia Totalis

Graphical network of the top 20 diseases related to Leukonychia Totalis:



Diseases related to Leukonychia Totalis

Symptoms & Phenotypes for Leukonychia Totalis

Human phenotypes related to Leukonychia Totalis:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 33 hallmark (90%) HP:0000787
2 adenoma sebaceum 33 hallmark (90%) HP:0009720
3 abnormal toenail morphology 33 hallmark (90%) HP:0008388
4 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
5 photophobia 33 frequent (33%) HP:0000613
6 blepharitis 33 frequent (33%) HP:0000498
7 abnormal eyelash morphology 33 frequent (33%) HP:0000499
8 type ii diabetes mellitus 33 occasional (7.5%) HP:0005978

Drugs & Therapeutics for Leukonychia Totalis

Search Clinical Trials , NIH Clinical Center for Leukonychia Totalis

Genetic Tests for Leukonychia Totalis

Genetic tests related to Leukonychia Totalis:

# Genetic test Affiliating Genes
1 Leukonychia Totalis 30 PLCD1

Anatomical Context for Leukonychia Totalis

Publications for Leukonychia Totalis

Articles related to Leukonychia Totalis:

(show all 34)
# 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. ( 25168385 )
2015
4
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )
2015
5
Idiopathic acquired leukonychia totalis of the fingernails in a child treated successfully with zinc and amino acid supplementation. ( 25733323 )
2015
6
An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. ( 27172289 )
2015
7
Idiopathic acquired true leukonychia totalis. ( 22937758 )
2014
8
Idiopathic acquired true leukonychia totalis and partialis. ( 24882988 )
2014
9
Idiopathic congenital true leukonychia totalis. ( 25506576 )
2014
10
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? ( 21659070 )
2011
11
A case of hereditary leukonychia totalis and partialis. ( 21244395 )
2011
12
Congenital isolated leukonychia totalis in three Egyptian sibs. ( 21412976 )
2011
13
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. ( 21665001 )
2011
14
A family with leukonychia totalis. ( 20418990 )
2010
15
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? ( 19401242 )
2009
16
Hereditary leukonychia totalis. ( 17921625 )
2007
17
Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. ( 17958875 )
2007
18
Images in clinical medicine. Acquired leukonychia totalis. ( 16837673 )
2006
19
Idiopathic leukonychia totalis and partialis in a 12-year-old patient. ( 11174421 )
2001
20
Congenital leukonychia totalis in two brothers. ( 9534904 )
1998
21
Familial leukonychia totalis. ( 9833061 )
1998
22
A syndrome of leukonychia totalis and multiple sebaceous cysts. ( 9220192 )
1997
23
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ( 7747786 )
1995
24
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? ( 7577599 )
1995
25
Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. ( 8340192 )
1993
26
Leukonychia totalis in two sibs. ( 8256820 )
1993
27
Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. ( 3760284 )
1986
28
Leukonychia totalis. ( 3794502 )
1986
29
Idiopathic leukonychia totalis and partialis. ( 4031150 )
1985
30
Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. ( 6961300 )
1982
31
Leukonychia partialis. A phase of leukonychia totalis. ( 6177474 )
1982
32
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. ( 1147634 )
1975
33
Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome. ( 1218212 )
1975
34
Leukonychia totalis; review and report of a case. ( 18153875 )
1949

Variations for Leukonychia Totalis

ClinVar genetic disease variations for Leukonychia Totalis:

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

Expression for Leukonychia Totalis

Search GEO for disease gene expression data for Leukonychia Totalis.

Pathways for Leukonychia Totalis

Pathways related to Leukonychia Totalis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.82 GJA1 PLCD1
2
Show member pathways
11.11 GJA1 PLCD1

GO Terms for Leukonychia Totalis

Sources for Leukonychia Totalis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....