MCID: NLD016
MIFTS: 25

Nail Disorder, Nonsyndromic Congenital, 10

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

Aliases & Classifications for Nail Disorder, Nonsyndromic Congenital, 10

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

Name: Nail Disorder, Nonsyndromic Congenital, 10 57 25 29 6 73
Nonsyndromic Congenital Nail Disorder 10 12 25 15
Claw-Shaped Nails 57 25 75
Ndnc10 57 25 75
Nail Disorder, Nonsyndromic Congenital, 10, 57 13
Onychauxis, Hyponychia, and Onycholysis 57 25
Onycholysis 44 73
Nail Disorder, Nonsyndromic Congenital, Type 10, 40
Nail Disorder, Non-Syndromic Congenital, 10 75
Onychauxis Hyponychia and Onycholysis 75
Autosomal Recessive Nail Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive nail dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
nail disorder, nonsyndromic congenital, 10:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 614157
Disease Ontology 12 DOID:0080088
Orphanet 59 ORPHA280654
ICD10 via Orphanet 34 Q84.6
MedGen 42 C3279974
MeSH 44 D054039
ICD10 33 L60.1
SNOMED-CT via HPO 69 258211005 75789001 30654002

Summaries for Nail Disorder, Nonsyndromic Congenital, 10

UniProtKB/Swiss-Prot : 75 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

OMIM : 57 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)

Genetics Home Reference : 25 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).

Related Diseases for Nail Disorder, Nonsyndromic Congenital, 10

Symptoms & Phenotypes for Nail Disorder, Nonsyndromic Congenital, 10

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Nails:
onychauxis (thickening)
onycholysis
hyponychia
claw-like appearance of fingernails


Clinical features from OMIM:

614157

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

32
# Description HPO Frequency HPO Source Accession
1 onycholysis 32 HP:0001806
2 onychauxis 32 HP:0012542

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 29 FZD6

Anatomical Context for Nail Disorder, Nonsyndromic Congenital, 10

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

41
Skin

Publications for Nail Disorder, Nonsyndromic Congenital, 10

Articles related to Nail Disorder, Nonsyndromic Congenital, 10:

# Title Authors Year
1
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia. ( 22861124 )
2013
2
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. ( 22211385 )
2012
3
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:

75
# 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 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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