Aliases & Classifications for Leukonychia Totalis

MalaCards integrated aliases for Leukonychia Totalis:

Name: Leukonychia Totalis 53 29 6 40 73
Nail Disorder, Nonsyndromic Congenital, 3 53
Hereditary White Nails 53
Total Leukonychia 53
Porcelain Nails 53
Ndnc3 53

Classifications:



Summaries for Leukonychia Totalis

NIH Rare Diseases : 53 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 blepharitis and abnormality of the eyelashes

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:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 blepharitis 32 frequent (33%) HP:0000498
2 abnormality of the eyelashes 32 frequent (33%) HP:0000499
3 photophobia 32 frequent (33%) HP:0000613
4 nephrolithiasis 32 hallmark (90%) HP:0000787
5 abnormality of the fingernails 32 hallmark (90%) HP:0001231
6 type ii diabetes mellitus 32 occasional (7.5%) HP:0005978
7 abnormal toenail morphology 32 hallmark (90%) HP:0008388
8 adenoma sebaceum 32 hallmark (90%) HP:0009720

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 29 PLCD1

Anatomical Context for Leukonychia Totalis

Publications for Leukonychia Totalis

Articles related to Leukonychia Totalis:

(show all 33)
# 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. ( 26370416 )
2015
4
Idiopathic Acquired Leukonychia Totalis of the Fingernails in a Child Treated Successfully with Zinc and Amino Acid Supplementation. ( 25733323 )
2015
5
An Idiopathic Leukonychia Totalis and Leukonychia Partialis Case Report and Review of the Literature. ( 27172289 )
2015
6
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 25168385 )
2014
7
Idiopathic congenital true leukonychia totalis. ( 25506576 )
2014
8
Idiopathic acquired true leukonychia totalis and partialis. ( 24882988 )
2014
9
Idiopathic Acquired True Leukonychia Totalis. ( 22937758 )
2012
10
A case of hereditary leukonychia totalis and partialis. ( 21244395 )
2011
11
Leukonychia totalis associated with multiple pilar cysts: report of a five-generation family: FLOTCH syndrome? ( 21659070 )
2011
12
Congenital isolated leukonychia totalis in three Egyptian sibs. ( 21412976 )
2011
13
A family with leukonychia totalis. ( 20418990 )
2010
14
Hereditary leukonychia totalis, acanthosis-nigricans-like lesions and hair dysplasia: a new syndrome? ( 19401242 )
2009
15
Unusual cases of acquired leukonychia totalis and partialis secondary to reflex sympathetic dystrophy. ( 17958875 )
2007
16
Hereditary leukonychia totalis. ( 17921625 )
2007
17
Images in clinical medicine. Acquired leukonychia totalis. ( 16837673 )
2006
18
Idiopathic leukonychia totalis and partialis in a 12-year-old patient. ( 11174421 )
2001
19
Congenital leukonychia totalis in two brothers. ( 9534904 )
1998
20
Familial leukonychia totalis. ( 9833061 )
1998
21
A syndrome of leukonychia totalis and multiple sebaceous cysts. ( 9220192 )
1997
22
Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome? ( 7747786 )
1995
23
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? ( 7577599 )
1995
24
Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. ( 8340192 )
1993
25
Leukonychia totalis in two sibs. ( 8256820 )
1993
26
Leukonychia totalis. ( 3794502 )
1986
27
Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. ( 3760284 )
1986
28
Idiopathic leukonychia totalis and partialis. ( 4031150 )
1985
29
Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. ( 6961300 )
1982
30
Leukonychia partialis. A phase of leukonychia totalis. ( 6177474 )
1982
31
Leukonychia totalis, multiple sebaceous cysts, and renal calculi. A syndrome. ( 1147634 )
1975
32
Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome. ( 1218212 )
1975
33
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 PLCD1, 10-BP DEL, NT1792 deletion Pathogenic
4 PLCD1 NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr) single nucleotide variant Pathogenic rs375683615 GRCh37 Chromosome 3, 38050599: 38050599
5 PLCD1 NM_006225.3(PLCD1): c.1657G> A (p.Ala553Thr) single nucleotide variant Pathogenic rs375683615 GRCh38 Chromosome 3, 38009108: 38009108
6 PLCD1 NM_006225.3(PLCD1): c.562T> C (p.Cys188Arg) single nucleotide variant Pathogenic rs397514471 GRCh37 Chromosome 3, 38052933: 38052933
7 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

Molecular functions related to Leukonychia Totalis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 obsolete signal transducer activity GO:0004871 8.62 GJA1 PLCD1

Sources for Leukonychia Totalis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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