MCID: NLD009
MIFTS: 28

Nail Disorder, Nonsyndromic Congenital, 1

Categories: Rare diseases, Skin diseases, Genetic diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 1

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 1:

Name: Nail Disorder, Nonsyndromic Congenital, 1 54
Twenty-Nail Dystrophy 12 50 56
Nonsyndromic Congenital Nail Disorder 1 12 14
Autosomal Dominant Nail Dysplasia 50 56
Onychodystrophy Totalis 50 56
Onychodystrophy Totalis, Isolated 50
Twenty Nail Dystrophy 69

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant nail dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
no abnormalities of skin, hair, teeth, or bones
not all nails are affected in some patients


HPO:

32
nail disorder, nonsyndromic congenital, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 56  
Rare skin diseases


External Ids:

OMIM 54 161050
Disease Ontology 12 DOID:0080079
Orphanet 56 ORPHA79153
UMLS via Orphanet 70 C0406443
ICD10 via Orphanet 34 L60.3
SNOMED-CT via HPO 65 263681008 52897009 63829008

Summaries for Nail Disorder, Nonsyndromic Congenital, 1

NIH Rare Diseases : 50 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

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 nail dysplasia, 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/superpathways is Primary immunodeficiency. Affiliated tissues include skin and bone, and related phenotypes are no phenotypic analysis and normal

OMIM : 54
Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NCNC1). (161050)

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 1

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

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Nails:
rough, sandpaper-like fingernails and toenails
longitudinal ridging, excessive (trachyonychia)
superficial pitting (in some patients)
thin nails
thickened nails (in some patients)
more

Clinical features from OMIM:

161050

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

32
id Description HPO Frequency HPO Source Accession
1 nail dysplasia 32 HP:0002164
2 thick nail 32 occasional (7.5%) HP:0001805
3 thin nail 32 HP:0001816

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


thin nail

MGI Mouse Phenotypes related to Nail Disorder, Nonsyndromic Congenital, 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.26 AIRE CD79A PROS1 TP63
2 normal MP:0002873 9.1 AIRE CD79A FZD6 PROS1 TBX22 TP63

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 1

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

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 1

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 1

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

39
Skin, Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 1

Variations for Nail Disorder, Nonsyndromic Congenital, 1

Expression for Nail Disorder, Nonsyndromic Congenital, 1

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

Pathways for Nail Disorder, Nonsyndromic Congenital, 1

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

id Super pathways Score Top Affiliating Genes
1 10.19 AIRE CD79A

GO Terms for Nail Disorder, Nonsyndromic Congenital, 1

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

id Name GO ID Score Top Affiliating Genes
1 protein homotetramerization GO:0051289 8.96 CD79A TP63
2 hair follicle development GO:0001942 8.62 FZD6 TP63

Sources for Nail Disorder, Nonsyndromic Congenital, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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