MCID: NLD009
MIFTS: 26

Nail Disorder, Nonsyndromic Congenital, 1 malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 1

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Aliases & Descriptions for Nail Disorder, Nonsyndromic Congenital, 1:

Name: Nail Disorder, Nonsyndromic Congenital, 1 52
Twenty-Nail Dystrophy 11 48 54
Nonsyndromic Congenital Nail Disorder 1 11 13
Autosomal Dominant Nail Dysplasia 48 54
 
Onychodystrophy Totalis 48 54
Onychodystrophy Totalis, Isolated 48
Twenty Nail Dystrophy 68

Characteristics:

Orphanet epidemiological data:

54
twenty-nail dystrophy:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
nail disorder, nonsyndromic congenital, 1:
Inheritance: autosomal dominant inheritance
Onset and clinical course: slow progression

Classifications:

Orphanet: 54 
Rare skin diseases


External Ids:

OMIM52 161050
Disease Ontology11 DOID:0080079
Orphanet54 ORPHA79153
ICD10 via Orphanet31 L60.3

Summaries for Nail Disorder, Nonsyndromic Congenital, 1

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OMIM:52 Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also... (161050) more...

MalaCards based summary: Nail Disorder, Nonsyndromic Congenital, 1, also known as twenty-nail dystrophy, is related to lichen planus and alopecia, and has symptoms including thin nail, thick nail and thin nail. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 1 is FZD6 (Frizzled Class Receptor 6), and among its related pathways is Primary immunodeficiency. Affiliated tissues include skin, and related mouse phenotypes are no phenotypic analysis and normal.

NIH Rare Diseases:48 Twenty-nail dystrophy is a condition that affects the nails of the fingers and toes.  the surface of all twenty nails develop ridges, splitting, and roughening (similar to sandpaper).  the nails may also be dull and brittle. this condition most commonly occurs in childhood, but it can occur at any age.  the exact cause is unknown; but in some cases, it appears to be associated with other skin conditions such as lichen planus, eczema, psoriasis and alopecia areata. many cases of twenty-nail dystrophy that begin gradually in early childhood tend to disappear naturally as the child ages. last updated: 7/4/2012

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 1

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Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 1:



Diseases related to nail disorder, nonsyndromic congenital, 1

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 1

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Symptoms by clinical synopsis from OMIM:

161050

Clinical features from OMIM:

161050

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 1:

 64
id Description HPO Frequency HPO Source Accession
1 thick nail64 HP:0001805
2 thin nail64 HP:0001816
3 nail dysplasia64 HP:0002164

UMLS symptoms related to Nail Disorder, Nonsyndromic Congenital, 1:


thin nail

MGI Mouse Phenotypes related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1AIRE, CD79A, PROS1, TP63
2MP:00028737.6AIRE, CD79A, FZD6, PROS1, TBX22, TP63

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 1

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 1

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Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 1

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MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 1:

36
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 1

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Variations for Nail Disorder, Nonsyndromic Congenital, 1

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Expression for genes affiliated with Nail Disorder, Nonsyndromic Congenital, 1

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Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 1.

Pathways for genes affiliated with Nail Disorder, Nonsyndromic Congenital, 1

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Pathways related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3AIRE, CD79A

GO Terms for genes affiliated with Nail Disorder, Nonsyndromic Congenital, 1

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Biological processes related to Nail Disorder, Nonsyndromic Congenital, 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hair follicle developmentGO:000194210.1FZD6, TP63
2protein homotetramerizationGO:00512899.5CD79A, TP63

Sources for Nail Disorder, Nonsyndromic Congenital, 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet