MCID: NLD009
MIFTS: 40

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 57
Twenty-Nail Dystrophy 57 12 53
Nonsyndromic Congenital Nail Disorder 1 12 15
Idiopathic Trachyonychia 53 59
Twenty Nail Dystrophy 53 73
Nail Disorder, Nonsyndromic Congenital 1 53
Onychodystrophy Totalis, Isolated 57
Autosomal Dominant Nail Dysplasia 53
Onychodystrophy Totalis 53
Sandpaper Nails 53
Trachyonychia 53
Ndnc1 57

Characteristics:

Orphanet epidemiological data:

59
idiopathic trachyonychia
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
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: 59  
Rare skin diseases


External Ids:

OMIM 57 161050
Disease Ontology 12 DOID:0080079
Orphanet 59 ORPHA79153
UMLS via Orphanet 74 C0406443
ICD10 via Orphanet 34 L60.3
MedGen 42 C0406443
SNOMED-CT via HPO 69 263681008 52897009 63829008
UMLS 73 C0406443

Summaries for Nail Disorder, Nonsyndromic Congenital, 1

OMIM : 57 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)

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 1, also known as twenty-nail dystrophy, is related to alopecia universalis congenita and alopecia. 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 thick nail and thin nail

NIH Rare Diseases : 53 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.

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 27)
# Related Disease Score Top Affiliating Genes
1 alopecia universalis congenita 29.6 AIRE MBTPS2
2 alopecia 29.0 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 rapp-hodgkin syndrome 10.1 TBX22 TP63
14 ichthyosis vulgaris 10.1
15 ichthyosis 10.1
16 alopecia areata 10.1
17 ulcerative stomatitis 10.0 CD79A TP63
18 pulmonary hemosiderosis 10.0 CD79A TP63
19 darier-white disease 9.9
20 pachyonychia congenita 1 9.9
21 incontinentia pigmenti 9.9
22 immunoglobulin alpha deficiency 9.9
23 opportunistic mycosis 9.8 AIRE CD79A
24 cleft lip/palate 9.8 TBX22 TP63
25 hypersensitivity reaction disease 9.8 AIRE CD79A
26 purpura 9.6 CD79A PROS1
27 candidiasis 9.3 AIRE CD79A

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:

57
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
# Description HPO Frequency HPO Source Accession
1 thick nail 32 occasional (7.5%) HP:0001805
2 thin nail 32 HP:0001816
3 nail dysplasia 32 HP:0002164

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

46
# 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

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:

41
Skin, Bone

Publications for Nail Disorder, Nonsyndromic Congenital, 1

Articles related to Nail Disorder, Nonsyndromic Congenital, 1:

(show all 43)
# 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
Clinical study of twenty-nail dystrophy in Korea. ( 21913910 )
2012
5
Twenty nail dystrophy in association with zosteriform lichen planus. ( 22837581 )
2012
6
Segmental vitiligo and twenty-nail dystrophy: an unusual association. ( 19172003 )
2008
7
Alopecia universalis with twenty-nail dystrophy (trachyonychia). ( 18627760 )
2008
8
Twenty nail dystrophy trachyonychia: an overview. ( 17535400 )
2007
9
Twenty nail dystrophy in vitiligo. ( 17291300 )
2007
10
Twenty-nail dystrophy originating from lichen planus. ( 15654171 )
2005
11
Twenty-nail dystrophy (trachyonychia) caused by lichen planus in a patient with gold allergy. ( 15888190 )
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 associated with hematologic abnormalities. ( 1755311 )
1991
22
Twenty-nail dystrophy of childhood with koilonychia. ( 2007303 )
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: a sign of localized lichen planus. ( 6494064 )
1984
30
Twenty-nail dystrophy: a hypothesis. ( 6703749 )
1984
31
Twenty-nail dystrophy of childhood--two cases in one family. ( 6499277 )
1984
32
IgA in twenty-nail dystrophy. ( 6886924 )
1983
33
Familial severe twenty-nail dystrophy. ( 7130495 )
1982
34
Twenty-nail dystrophy (trachyonychia) associated with selective IgA deficiency. ( 7062176 )
1982
35
Hereditary twenty-nail dystrophy in a Sicilian family. ( 7143386 )
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
[Vertical striated sand-papered twenty-nail dystrophy (author's transl)]. ( 686612 )
1978
41
Twenty-nail dystrophy: a variant of lichen planus. ( 646381 )
1978
42
Twenty-nail dystrophy of childhood. ( 831628 )
1977
43
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
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
46 MGI
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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