NDNC10
MCID: NLD016
MIFTS: 28

Nail Disorder, Nonsyndromic Congenital, 10 (NDNC10)

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 10

MalaCards integrated aliases for Nail Disorder, Nonsyndromic Congenital, 10:

Name: Nail Disorder, Nonsyndromic Congenital, 10 58 26 30 6 74
Nonsyndromic Congenital Nail Disorder 10 12 26 15
Claw-Shaped Nails 58 26 76
Ndnc10 58 26 76
Nail Disorder, Nonsyndromic Congenital, 10, 58 13
Onychauxis, Hyponychia, and Onycholysis 58 26
Onycholysis 45 74
Nail Disorder, Nonsyndromic Congenital, Type 10, 41
Nail Disorder, Non-Syndromic Congenital, 10 76
Onychauxis Hyponychia and Onycholysis 76
Autosomal Recessive Nail Dysplasia 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive nail dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
nail disorder, nonsyndromic congenital, 10:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0080088
OMIM 58 614157
MeSH 45 D054039
ICD10 34 L60.1
ICD10 via Orphanet 35 Q84.6
Orphanet 60 ORPHA280654
MedGen 43 C3279974
SNOMED-CT via HPO 70 258211005 30654002 75789001

Summaries for Nail Disorder, Nonsyndromic Congenital, 10

UniProtKB/Swiss-Prot : 76 Nail disorder, non-syndromic congenital, 10: A 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.

MalaCards based summary : Nail Disorder, Nonsyndromic Congenital, 10, also known as nonsyndromic congenital nail disorder 10, is related to hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate and nail disorder, nonsyndromic congenital, 5, and has symptoms including onychomadesis and nail bed hemorrhage. An important gene associated with Nail Disorder, Nonsyndromic Congenital, 10 is FZD6 (Frizzled Class Receptor 6). Affiliated tissues include skin, and related phenotypes are onycholysis and onychauxis

Genetics Home Reference : 26 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).

OMIM : 58 Nonsyndromic congenital nail disorder-10 is characterized by onychauxis (thick nails), hyponychia, and onycholysis of all nails, with claw-shaped fingernails in some individuals (summary by Frojmark et al., 2011). For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (161050). (614157)

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 10

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 12.1
2 nail disorder, nonsyndromic congenital, 5 11.9
3 witkop syndrome 11.4
4 corneodermatoosseous syndrome 11.2
5 yellow nail syndrome 11.1
6 ameloonychohypohidrotic syndrome 11.1
7 nail disorder, nonsyndromic congenital, 9 10.4
8 paronychia 10.3
9 psoriatic arthritis 10.1
10 arthritis 10.1
11 hand, foot and mouth disease 10.0
12 hypothyroidism 10.0
13 mouth disease 10.0
14 psoriasis 10.0
15 porphyria cutanea tarda 9.9
16 protoporphyria, erythropoietic, 1 9.9
17 trichomegaly 9.9
18 chondrosarcoma 9.9
19 mycosis fungoides 9.9
20 kawasaki disease 9.9
21 aspergillosis 9.9
22 alopecia 9.9
23 ectodermal dysplasia 9.9
24 leukemia 9.9
25 invasive aspergillosis 9.9
26 tinea pedis 9.9
27 porphyria 9.9
28 acrodermatitis 9.9
29 dermatitis 9.9
30 contact dermatitis 9.9
31 allergic contact dermatitis 9.9
32 purpura 9.9
33 nail disease 9.9
34 pustulosis of palm and sole 9.9
35 hypotrichosis 9.9
36 hyperthyroidism 9.9
37 cleft lip 9.9
38 alopecia areata 9.9
39 pustular psoriasis 9.9
40 pustulosis palmaris et plantaris 9.9
41 pyogenic granuloma 9.9
42 cleft lip/palate 9.9
43 rapidly involuting congenital hemangioma 9.9

Graphical network of the top 20 diseases related to Nail Disorder, Nonsyndromic Congenital, 10:



Diseases related to Nail Disorder, Nonsyndromic Congenital, 10

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 10

Human phenotypes related to Nail Disorder, Nonsyndromic Congenital, 10:

33
# Description HPO Frequency HPO Source Accession
1 onycholysis 33 HP:0001806
2 onychauxis 33 HP:0012542

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
onycholysis
onychauxis (thickening)
hyponychia
claw-like appearance of fingernails

Clinical features from OMIM:

614157

UMLS symptoms related to Nail Disorder, Nonsyndromic Congenital, 10:


onychomadesis, nail bed hemorrhage

Drugs & Therapeutics for Nail Disorder, Nonsyndromic Congenital, 10

Search Clinical Trials , NIH Clinical Center for Nail Disorder, Nonsyndromic Congenital, 10

Cochrane evidence based reviews: onycholysis

Genetic Tests for Nail Disorder, Nonsyndromic Congenital, 10

Genetic tests related to Nail Disorder, Nonsyndromic Congenital, 10:

# Genetic test Affiliating Genes
1 Nail Disorder, Nonsyndromic Congenital, 10 30 FZD6

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 10

MalaCards organs/tissues related to Nail Disorder, Nonsyndromic Congenital, 10:

42
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 10

Articles related to Nail Disorder, Nonsyndromic Congenital, 10:

# Title Authors Year
1
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia. ( 30642273 )
2019
2
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. ( 22861124 )
2013
3
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. ( 22211385 )
2012
4
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia. ( 21665003 )
2011

Variations for Nail Disorder, Nonsyndromic Congenital, 10

UniProtKB/Swiss-Prot genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 10:

76
# Symbol AA change Variation ID SNP ID
1 FZD6 p.Arg511Cys VAR_066398 rs151339003

ClinVar genetic disease variations for Nail Disorder, Nonsyndromic Congenital, 10:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FZD6 NM_003506.3(FZD6): c.1750G> T (p.Glu584Ter) single nucleotide variant Pathogenic rs151339002 GRCh37 Chromosome 8, 104342091: 104342091
2 FZD6 NM_003506.3(FZD6): c.1750G> T (p.Glu584Ter) single nucleotide variant Pathogenic rs151339002 GRCh38 Chromosome 8, 103329863: 103329863
3 FZD6 NM_003506.3(FZD6): c.1531C> T (p.Arg511Cys) single nucleotide variant Pathogenic rs151339003 GRCh37 Chromosome 8, 104340634: 104340634
4 FZD6 NM_003506.3(FZD6): c.1531C> T (p.Arg511Cys) single nucleotide variant Pathogenic rs151339003 GRCh38 Chromosome 8, 103328406: 103328406

Expression for Nail Disorder, Nonsyndromic Congenital, 10

Search GEO for disease gene expression data for Nail Disorder, Nonsyndromic Congenital, 10.

Pathways for Nail Disorder, Nonsyndromic Congenital, 10

GO Terms for Nail Disorder, Nonsyndromic Congenital, 10

Sources for Nail Disorder, Nonsyndromic Congenital, 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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