MCID: NLD009
MIFTS: 38

Nail Disorder, Nonsyndromic Congenital, 1

Categories: Rare diseases, Skin diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 1

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

Name: Nail Disorder, Nonsyndromic Congenital, 1 53
Twenty-Nail Dystrophy 53 12 49 55
Nonsyndromic Congenital Nail Disorder 1 12 14
Autosomal Dominant Nail Dysplasia 49 55
Onychodystrophy Totalis 49 55
Twenty Nail Dystrophy 49 69
Nail Disorder, Nonsyndromic Congenital 1 49
Onychodystrophy Totalis, Isolated 53
Sandpaper Nails 49
Trachyonychia 49
Ndnc1 53

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant nail dysplasia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
nail disorder, nonsyndromic congenital, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 55  
Rare skin diseases


External Ids:

OMIM 53 161050
Disease Ontology 12 DOID:0080079
Orphanet 55 ORPHA79153
UMLS via Orphanet 70 C0406443
ICD10 via Orphanet 33 L60.3
MedGen 39 C0406443
SNOMED-CT via HPO 65 263681008 52897009 63829008
UMLS 69 C0406443

Summaries for Nail Disorder, Nonsyndromic Congenital, 1

NIH Rare Diseases : 49 Twenty-nail dystrophy is a condition that affects the nails of the fingers and toes. The nails become rough, thin, and brittle. They appear similar to sandpaper. It was once thought that all 20 nails will be affected, but any number of nails can become rough and brittle. This condition most commonly occurs in childhood, but it can occur at any age. The exact cause is often unknown, but sometimes appears with other skin conditions such as lichen planus, psoriasis and alopecia areata. In some people, the symptoms of twenty-nail dystrophy improve or disappear over time, but in other people they persist for a long time. Last updated: 10/2/2017

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 1, also known as twenty-nail dystrophy, is related to alopecia universalis congenita and alopecia, and has symptoms including thin nail, nail dysplasia and thick 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. The drugs Mugwort and Wormwood have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are no phenotypic analysis and normal

OMIM : 53 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

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita 29.9 AIRE MBTPS2
2 alopecia 29.5 AIRE MBTPS2 TP63
3 nail disorder, nonsyndromic congenital, 6 10.8
4 nail disorder, nonsyndromic congenital, 2 10.8
5 nail disorder, nonsyndromic congenital, 3 10.8
6 nail disorder, nonsyndromic congenital, 5 10.8
7 nail disorder, nonsyndromic congenital, 4 10.8
8 nail disorder, nonsyndromic congenital, 7 10.8
9 nail disorder, nonsyndromic congenital, 8 10.8
10 nail disorder, nonsyndromic congenital, 9 10.8
11 nail disorder, nonsyndromic congenital, 10 10.8
12 lichen planus 10.3
13 vitiligo-associated multiple autoimmune disease susceptibility 1 10.2
14 rapp-hodgkin syndrome 10.1 TBX22 TP63
15 ichthyosis vulgaris 10.1
16 ichthyosis 10.1
17 alopecia areata 10.1
18 ulcerative stomatitis 10.0 CD79A TP63
19 pulmonary hemosiderosis 10.0 CD79A TP63
20 opportunistic mycosis 9.9 AIRE CD79A
21 darier-white disease 9.9
22 pachyonychia congenita 1 9.9
23 incontinentia pigmenti 9.9
24 immunoglobulin alpha deficiency 9.9
25 hypersensitivity reaction disease 9.9 AIRE CD79A
26 cleft palate, isolated 9.9 TBX22 TP63
27 candidiasis 9.8 AIRE CD79A
28 purpura 9.8 CD79A PROS1
29 orofacial cleft 9.7 TBX22 TP63

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:

53
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:

31
# Description HPO Frequency HPO Source Accession
1 thin nail 31 HP:0001816
2 nail dysplasia 31 HP:0002164
3 thick nail 31 occasional (7.5%) HP:0001805

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

43
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.26 CD79A PROS1 TP63 AIRE
2 normal MP:0002873 9.1 AIRE CD79A FZD6 PROS1 TBX22 TP63

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 1

Drugs for Nail Disorder, Nonsyndromic Congenital, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Mugwort Nutraceutical Phase 3
2 Wormwood Nutraceutical Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of Efficacy of Nail Gel in Finger Nail Surface Abnormality Unknown status NCT02582762 Phase 3 Nail gel

Search 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:

38
Skin, Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 1

Articles related to Nail Disorder, Nonsyndromic Congenital, 1:

(show all 42)
# Title Authors Year
1
Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings. ( 28839389 )
2017
2
Twenty-Nail Dystrophy and Darier's (Darier-White) Disease. ( 26861433 )
2015
3
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. ( 23374899 )
2013
4
Twenty nail dystrophy in association with zosteriform lichen planus. ( 22837581 )
2012
5
Clinical study of twenty-nail dystrophy in Korea. ( 21913910 )
2012
6
Alopecia universalis with twenty-nail dystrophy (trachyonychia). ( 18627760 )
2008
7
Segmental vitiligo and twenty-nail dystrophy: an unusual association. ( 19172003 )
2008
8
Twenty nail dystrophy trachyonychia: an overview. ( 17535400 )
2007
9
Twenty nail dystrophy in vitiligo. ( 17291300 )
2007
10
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with gold allergy. ( 15888190 )
2005
11
Twenty-nail dystrophy originating from lichen planus. ( 15654171 )
2005
12
Twenty-nail dystrophy in a girl with incontinentia pigmenti. ( 12581087 )
2003
13
Twenty-nail dystrophy in a mother and her 7-year-old daughter associated with balanced translocation 46, XX, t(6q13;10p13). ( 12072794 )
2002
14
An association of twenty-nail dystrophy with vitiligo. ( 11280463 )
2001
15
Twenty-nail dystrophy in monozygotic twins. ( 10343962 )
1999
16
Twenty-nail dystrophy and vitiligo: a rare association. ( 10071326 )
1999
17
A case report of twenty-nail dystrophy. ( 9046745 )
1997
18
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with alopecia universalis and ichthyosis vulgaris. ( 7593807 )
1995
19
Idiopathic trachyonychia (twenty-nail dystrophy): a pathological study of 23 patients. ( 7857841 )
1994
20
Twenty-nail dystrophy due to lichen planus in a patient with alopecia areata. ( 8348737 )
1993
21
Twenty-nail dystrophy of childhood with koilonychia. ( 2007303 )
1991
22
Twenty-nail dystrophy associated with hematologic abnormalities. ( 1755311 )
1991
23
Twenty-nail dystrophy treated with topical PUVA. ( 1981426 )
1990
24
Twenty-nail dystrophy. A clinical manifestation of spongiotic inflammation of the nail matrix. ( 2383032 )
1990
25
Twenty nail dystrophy in identical twins. ( 3412992 )
1988
26
Twenty-nail dystrophy of childhood: a misnamed syndrome. ( 3608573 )
1987
27
Twenty-nail dystrophy of childhood: a reappraisal. ( 3881224 )
1985
28
Twenty-nail dystrophy: report of a case and review of the literature. ( 6203314 )
1984
29
Twenty-nail dystrophy of childhood--two cases in one family. ( 6499277 )
1984
30
Twenty-nail dystrophy: a hypothesis. ( 6703749 )
1984
31
Twenty-nail dystrophy of childhood: a sign of localized lichen planus. ( 6494064 )
1984
32
IgA in twenty-nail dystrophy. ( 6886924 )
1983
33
Hereditary twenty-nail dystrophy in a Sicilian family. ( 7143386 )
1982
34
Twenty-nail dystrophy (trachyonychia) associated with selective IgA deficiency. ( 7062176 )
1982
35
Familial severe twenty-nail dystrophy. ( 7130495 )
1982
36
Twenty-nail dystrophy and ichthyosis vulgaris. ( 7247418 )
1981
37
Twenty-nail dystrophy of alopecia areata. ( 7377792 )
1980
38
Twenty-nail dystrophy of childhood. Case report and histopathological findings. ( 427021 )
1979
39
Twenty-nail dystrophy. ( 434859 )
1979
40
Twenty-nail dystrophy: a variant of lichen planus. ( 646381 )
1978
41
Twenty-nail dystrophy of childhood. ( 831628 )
1977
42
Twenty-nail dystrophy. ( 911187 )
1977

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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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