NDNC1
MCID: NLD009
MIFTS: 50

Nail Disorder, Nonsyndromic Congenital, 1 (NDNC1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 1

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

Name: Nail Disorder, Nonsyndromic Congenital, 1 57 38
Nonsyndromic Congenital Nail Disorder 1 11 28 5 14
Nail Disorder, Nonsyndromic Congenital, 10 42 28 71
Twenty-Nail Dystrophy 57 11 19
Claw-Shaped Nails 57 42 73
Onycholysis 71 31 33
Nonsyndromic Congenital Nail Disorder 10 11 42
Onychauxis, Hyponychia, and Onycholysis 57 42
Idiopathic Trachyonychia 19 58
Twenty Nail Dystrophy 19 71
Ndnc10 42 73
Ndnc1 57 73
Nail Disorder, Nonsyndromic Congenital, 10, Formerly 57
Nail Disorder, Nonsyndromic Congenital, Type 10 38
Nail Disorder, Non-Syndromic Congenital, 10 73
Nail Disorder, Non-Syndromic Congenital, 1 73
Nail Disorder, Nonsyndromic Congenital 1 19
Onychauxis Hyponychia and Onycholysis 73
Autosomal Recessive Nail Dysplasia 58
Onychodystrophy Totalis, Isolated 57
Autosomal Dominant Nail Dysplasia 19
Separation of Nail Plate 33
Onychodystrophy Totalis 19
Detachment of Nail 33
Ndnc10, Formerly 57
Sandpaper Nails 19
Trachyonychia 19

Characteristics:


Inheritance:

Nail Disorder, Nonsyndromic Congenital, 1: Autosomal recessive 57
Autosomal Recessive Nail Dysplasia: Autosomal recessive 58
Idiopathic Trachyonychia: Autosomal dominant 58

Prevelance:

Autosomal Recessive Nail Dysplasia: <1/1000000 (Worldwide) 58

Age Of Onset:

Idiopathic Trachyonychia: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive
present at birth or onset in early childhood
sparing of some nails (in some patients)
no abnormalities of skin, hair, teeth, or bones


HPO:

30
nail disorder, nonsyndromic congenital, 1:
Onset and clinical course slowly progressive


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 11 DOID:0080079
OMIM® 57 161050
OMIM Phenotypic Series 57 PS161050
MeSH 43 D054039
ICD10 31 L60.1
ICD10 via Orphanet 32 L60.3 Q84.6
UMLS via Orphanet 72 C0406443
ICD11 33 93998748
UMLS 71 C0085661 C0406443 C3279974

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 (NDNC1). (161050) (Updated 08-Dec-2022)

MalaCards based summary: Nail Disorder, Nonsyndromic Congenital, 1, also known as nonsyndromic congenital nail disorder 1, is related to nail disease and ameloonychohypohidrotic syndrome, and has symptoms including nail bed hemorrhage and onychomadesis. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 1 is FZD6 (Frizzled Class Receptor 6). The drugs Miconazole and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and lung, and related phenotypes are nail dystrophy and fingernail dysplasia

Orphanet 58 Autosomal recessive nail dysplasia: Autosomal recessive nail dysplasia is a rare, isolated nail anomaly characterized by claw-shaped, thick, hyperplastic, hard and hyperpigmented nails, subungual hyperkeratosis, onycholysis and slow nail growth. Variable degree of disease severity has been reported.

Idiopathic trachyonychia: A rare isolated nail anomaly characterized by brittle, thin, rough, opaque appearing nails with excessive longitudinal ridging. In a less severe form, the nails retain their luster and present with superficial ridging and multiple small geometric pits. In both varieties, superficial scaling of the nail plate and hyperkeratosis of the cuticles, as well as koilonychia and onychoschizia are observed. Any number of nails may be affected, and fingernails are more often affected than toenails. Spontaneous improvement of the condition may occur.

MedlinePlus Genetics: 42 Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia).In affected individuals, the nails are often abnormal from birth. However, the abnormalities may not be noticeable until later in childhood because the nails tend to grow more slowly than normal.Individuals with nonsyndromic congenital nail disorder 10 do not have any other health problems related to the condition.

GARD: 19 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.

UniProtKB/Swiss-Prot: 73 An autosomal recessive nail disorder characterized by a variable degree of onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals. No other anomalies of ectodermal tissues, including hair, teeth, sweat glands, or skin, are noted, and individuals with dysplastic nails have normal hearing and normal psychomotor development.

Disease Ontology: 11 A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance.

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 Nonsyndromic Congenital Nail Disorder

Diseases related to Nail Disorder, Nonsyndromic Congenital, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 nail disease 29.9 FZD6 CCR6
2 ameloonychohypohidrotic syndrome 11.3
3 witkop syndrome 11.3
4 corneodermatoosseous syndrome 11.2
5 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.0
6 periodontitis, aggressive, 1 11.0
7 nail disorder, nonsyndromic congenital, 6 10.9
8 nail disorder, nonsyndromic congenital, 2 10.9
9 nail disorder, nonsyndromic congenital, 3 10.9
10 yellow nail syndrome 10.9
11 nail disorder, nonsyndromic congenital, 5 10.9
12 nail disorder, nonsyndromic congenital, 4 10.9
13 nail disorder, nonsyndromic congenital, 7 10.9
14 nail disorder, nonsyndromic congenital, 8 10.9
15 nail disorder, nonsyndromic congenital, 9 10.9
16 psoriatic juvenile idiopathic arthritis 10.9
17 primary essential cutis verticis gyrata 10.9
18 lichen planus 10.6
19 alopecia 10.5
20 alopecia areata 10.5
21 vitiligo-associated multiple autoimmune disease susceptibility 6 10.3
22 vitiligo-associated multiple autoimmune disease susceptibility 1 10.3
23 photoparoxysmal response 1 10.3
24 dermatitis 10.3
25 alopecia universalis congenita 10.2
26 graves disease 1 10.2
27 hypothyroidism 10.2
28 hyperthyroidism 10.2
29 psoriasis 1 10.1
30 psoriasis 2 10.1
31 psoriasis 7 10.1
32 psoriasis 11 10.1
33 psoriasis 13 10.1
34 ichthyosis vulgaris 10.1
35 ichthyosis 10.1
36 dermatitis, atopic 10.1
37 psoriasis 10.1
38 nail-patella syndrome 10.0
39 erythrokeratoderma ''en cocardes'' 10.0
40 isolated nail anomaly 10.0
41 spondyloarthropathy 1 10.0
42 breast cancer 10.0
43 psoriatic arthritis 10.0
44 kawasaki disease 10.0
45 porphyria 10.0
46 contact dermatitis 10.0
47 allergic contact dermatitis 10.0
48 acne 10.0
49 sarcoidosis 1 10.0
50 sarcoidosis 2 10.0

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

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

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nail dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008404
2 fingernail dysplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0100798
3 concave nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001598
4 thin nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001816
5 nail pits 58 30 Frequent (33%) Frequent (79-30%)
HP:0001803
6 ridged nail 58 30 Frequent (33%) Frequent (79-30%)
HP:0001807
7 fragile nails 58 30 Frequent (33%) Frequent (79-30%)
HP:0001808
8 toenail dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100797
9 circumungual hyperkeratosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008399
10 patchy alopecia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002232
11 onychogryposis 30 Occasional (7.5%) HP:0001805
12 ichthyosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0008064
13 vitiligo 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001045
14 autoimmune thrombocytopenia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001973
15 amyloidosis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011034
16 atopic dermatitis 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001047
17 onycholysis 30 HP:0001806
18 pain 58 Excluded (0%)
19 onychauxis 30 HP:0012542
20 abnormality of the periungual region 58 Frequent (79-30%)
21 trachyonychia 30 HP:0030804

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin Nails Hair Nails:
onychauxis (thick nails)
onycholysis (detachment of nail from the nail bed)
hyponychia
cracked nails
discolored nails (at birth)
more

Clinical features from OMIM®:

161050 (Updated 08-Dec-2022)

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


nail bed hemorrhage; onychomadesis

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.92 CCR6 FZD6 PROS1 TP63

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 1

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
2
Clotrimazole Approved, Vet_approved Phase 1 23593-75-1 2812
3
Terbinafine Approved, Investigational, Vet_approved Phase 1 91161-71-6 1549008
4 Anti-Infective Agents Phase 1
5 Antifungal Agents Phase 1
6
Dimenhydrinate Approved 523-87-5 10660
7
Docetaxel Approved, Investigational 114977-28-5 148124
8 Pharmaceutical Solutions

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double-Blind, Randomized, Parallel Design Study To Assess the Safety and Pharmacokinetics of Terbinafine Hydrogen Cloride (HCl) Nail Lacquer Applied for 28 Days in Patients With Onychomycosis Completed NCT00691184 Phase 1 Placebo;Terbinafine Hydrochloride;Terbinafine
2 A Prospective Randomized Controlled Trial of Evonail® Solution for Prevention or Treatment of Onycholysis in Breast Cancer Patients Who Received Neoadjuvant/Adjuvant Docetaxel Chemotherapy Completed NCT02670603 EVONAIL® solution

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

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 1

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 1:

# Genetic test Affiliating Genes
1 Nonsyndromic Congenital Nail Disorder 1 28 FZD6
2 Nail Disorder, Nonsyndromic Congenital, 10, (claw-Shaped Nails) 28

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 1

Organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 1:

MalaCards : Skin, Breast, Lung, Thyroid, Prostate, Myeloid, Liver

Publications for Nail Disorder, Nonsyndromic Congenital, 1

Articles related to Nail Disorder, Nonsyndromic Congenital, 1:

(show top 50) (show all 845)
# Title Authors PMID Year
1
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita. 62 57 5
23374899 2013
2
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. 62 57 5
22211385 2012
3
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. 62 57 5
21665003 2011
4
Twenty nail dystrophy trachyonychia: an overview. 62 57
17535400 2007
5
Twenty-nail dystrophy in monozygotic twins. 62 57
10343962 1999
6
Idiopathic trachyonychia (twenty-nail dystrophy): a pathological study of 23 patients. 62 57
7857841 1994
7
Twenty nail dystrophy in identical twins. 62 57
3412992 1988
8
Hereditary twenty-nail dystrophy in a Sicilian family. 62 57
7143386 1982
9
Familial severe twenty-nail dystrophy. 62 57
7130495 1982
10
Twenty-nail dystrophy of childhood. 62 57
831628 1977
11
Lyonization pattern of normal human nails. 57
18429815 2008
12
Optimal diagnosis and management of common nail disorders. 62
35238267 2022
13
Dermoscopy of glomus tumour: a cross-sectional study of 86 cases. 62
35841303 2022
14
Insights on the etiopathogenesis of onychomycosis by dermatophyte, yeast and non-dermatophyte mould in ex vivo model. 62
35818750 2022
15
Nail Loss in Mild to Moderate Pemphigus Vulgaris. 62
36407650 2022
16
Untargeted metabolomics profiling identifies onycholysis-specific signature in psoriasis. 62
35577049 2022
17
The effect of COVID-19 on development of hair and nail disorders: a Turkish multicenter, controlled study. 62
36281828 2022
18
Trachyonychia successfully treated with low-dose acitretin in a paediatric patient. 62
36457691 2022
19
Thiamethoxam-Induced Subclinical Onychomadesis. 62
36161079 2022
20
Dermoscopic Features of Nail Psoriasis: Revisited. 62
36161089 2022
21
Progressive Acral Lentiginous Melanoma diagnosed via histopathology and surgically eradicated in a fingernail in a 69-year-old male - A Case Report. 62
36380543 2022
22
Idiopathic/Simple Onycholysis: Response to Combination Topical Therapy. 62
36304660 2022
23
The impact of nail psoriasis on disease activity, quality of life, and clinical variables in patients with psoriatic arthritis: A cross-sectional multicenter study. 62
36165674 2022
24
Docetaxel induced hemorrhagic onycholysis. 62
35536595 2022
25
Onycholysis associated with Kawasaki disease: A comment on "Characteristic nail lesions in Kawasaki disease: Case series and literature review". 62
35307858 2022
26
Author reply to "Onycholysis associated with Kawasaki disease: A comment on characteristic nail lesions in Kawasaki disease: Case series and literature review". 62
35460100 2022
27
Nail Changes Associated With Thyroid Disease. 62
36219640 2022
28
Contact eczema induced by hybrid manicure. The role of acrylates as a causative factor. 62
36090720 2022
29
Onychopathy Induced by Nivolumab: A Targeted Immunotherapy. 62
35989738 2022
30
Bazex Syndrome Associated with Squamous Cell Carcinoma of the Lip: A Rare Paraneoplastic Acrokeratosis with Nail Dystrophy. 62
35983469 2022
31
Multiple Clinical Manifestations of Lichenoid Spectrum: A Patient with Frontal Fibrosing Alopecia, Lichen Planus Pigmentosus, and Nail Lichen Planus. 62
35983468 2022
32
The role of dermoscopy in the diagnosis of subungual glomus tumors. 62
35073425 2022
33
A randomised controlled trial of interventions for taxane-induced nail toxicity in women with early breast cancer. 62
35798751 2022
34
Polydactylous Photo-Onycholysis in a Patient of Breast Carcinoma. 62
36262568 2022
35
Idiopathic Trachyonychia (Twenty-Nail-Dystrophy). 62
34488466 2022
36
Unequal relevance between different subtypes of fingernail psoriasis and psoriatic arthritis. 62
35182271 2022
37
Surgical repair for deformities of the nail unit. 62
35770304 2022
38
Tetracyclines-An Important Therapeutic Tool for Dermatologists. 62
35742496 2022
39
Hair and Nail Conditions: Nail Conditions. 62
35679470 2022
40
Nail Psoriasis. 62
35697407 2022
41
The impact of psoriasis on the clinical characteristics, disease burden and treatment patterns of peripheral spondyloarthritis. 62
35451472 2022
42
Onychomycosis: Recommendations for Diagnosis, Assessment of Treatment Efficacy, and Specialist Referral. The CONSONANCE Consensus Project. 62
35262878 2022
43
Efinaconazole in Onychomycosis. 62
34902110 2022
44
Nails Involvement in Winiwarter-Buerger Disease. 62
35415181 2022
45
Clinical and onychoscopic features of histopathologically proven onychopapillomas and literature update. 62
34396563 2022
46
Application of Topical Lidocaine for Pain Relief in the Setting of Targeted Therapy-Induced Onycholysis: A Case Report. 62
34551277 2022
47
Fungal Infections and Nail Psoriasis: An Update. 62
35205908 2022
48
The influence of docetaxel schedule on treatment tolerability and efficacy in patients with metastatic breast cancer: a systematic review and meta-analysis of randomized controlled trials. 62
35078455 2022
49
Severe Acute Systemic Reaction After the First Injections of Ixekizumab. 62
35180068 2022
50
New Insights on Juvenile Psoriatic Arthritis. 62
35722498 2022

Variations for Nail Disorder, Nonsyndromic Congenital, 1

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 1:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FZD6 NM_003506.4(FZD6):c.1525C>T (p.Arg509Ter) SNV Pathogenic
827757 rs766284226 GRCh37: 8:104340628-104340628
GRCh38: 8:103328400-103328400
2 FZD6 NM_003506.4(FZD6):c.286C>T (p.Arg96Cys) SNV Pathogenic
499653 rs981045005 GRCh37: 8:104330926-104330926
GRCh38: 8:103318698-103318698
3 FZD6 NM_003506.4(FZD6):c.1312G>A (p.Glu438Lys) SNV Pathogenic
827759 rs1371244150 GRCh37: 8:104337646-104337646
GRCh38: 8:103325418-103325418
4 FZD6 NM_003506.4(FZD6):c.1750G>T (p.Glu584Ter) SNV Pathogenic
30355 rs151339002 GRCh37: 8:104342091-104342091
GRCh38: 8:103329863-103329863
5 FZD6 NM_003506.4(FZD6):c.1531C>T (p.Arg511Cys) SNV Pathogenic
30356 rs151339003 GRCh37: 8:104340634-104340634
GRCh38: 8:103328406-103328406
6 FZD6 NM_003506.4(FZD6):c.1393-2A>G SNV Likely Pathogenic
993016 rs1815013208 GRCh37: 8:104340494-104340494
GRCh38: 8:103328266-103328266
7 FZD6 NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) SNV Uncertain Significance
190461 rs786205672 GRCh37: 8:104337203-104337203
GRCh38: 8:103324975-103324975
8 FZD6 NM_003506.4(FZD6):c.97A>G (p.Met33Val) SNV Benign
1285287 GRCh37: 8:104312432-104312432
GRCh38: 8:103300204-103300204
9 FZD6 NM_003506.4(FZD6):c.1214G>A (p.Arg405Gln) SNV Benign
802432 rs150760762 GRCh37: 8:104337548-104337548
GRCh38: 8:103325320-103325320

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 1:

73
# Symbol AA change Variation ID SNP ID
1 FZD6 p.Arg511Cys VAR_066398 rs151339003

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

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 hair follicle development GO:0001942 9.13 TP63 FZD6
2 establishment of planar polarity GO:0001736 8.8 TP63 FZD6

Sources for Nail Disorder, Nonsyndromic Congenital, 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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