MCID: NNS071
MIFTS: 18

Nonsyndromic Congenital Nail Disorder

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

MalaCards integrated aliases for Nonsyndromic Congenital Nail Disorder:

Name: Nonsyndromic Congenital Nail Disorder 11 14
Nail Disorder, Nonsyndromic Congenital 5

Classifications:



External Ids:

Disease Ontology 11 DOID:0080683

Summaries for Nonsyndromic Congenital Nail Disorder

Disease Ontology: 11 A nail disease that is characterized by underdevelopment of nails.

MalaCards based summary: Nonsyndromic Congenital Nail Disorder, also known as nail disorder, nonsyndromic congenital, is related to nail disorder, nonsyndromic congenital, 4 and nail disorder, nonsyndromic congenital, 1. An important gene associated with Nonsyndromic Congenital Nail Disorder is SLC25A16 (Solute Carrier Family 25 Member 16), and among its related pathways/superpathways is Regulation of FZD by ubiquitination.

Related Diseases for Nonsyndromic Congenital Nail Disorder

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 Nonsyndromic Congenital Nail Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 27)
# Related Disease Score Top Affiliating Genes
1 nail disorder, nonsyndromic congenital, 4 29.2 ZNF519 SEH1L RSPO4 PDIK1L LYZL1 KRT81
2 nail disorder, nonsyndromic congenital, 1 11.9
3 nail disorder, nonsyndromic congenital, 8 11.8
4 nail disorder, nonsyndromic congenital, 3 11.6
5 nail disorder, nonsyndromic congenital, 6 11.6
6 nail disorder, nonsyndromic congenital, 2 11.6
7 nail disorder, nonsyndromic congenital, 5 11.6
8 nail disorder, nonsyndromic congenital, 7 11.6
9 nail disorder, nonsyndromic congenital, 9 11.6
10 epidermolysis bullosa dystrophica, autosomal recessive 11.2
11 ocular tuberculosis 10.2 RSPO4 PLCD1
12 mucinoses 10.1 KRT74 KRT71
13 woolly hair, autosomal dominant 10.1 KRT74 KRT71
14 hypotrichosis 3 10.1 KRT74 KRT71
15 hypotrichosis 4 10.1 KRT74 KRT71
16 hypotrichosis 13 10.1 KRT74 KRT71
17 hypotrichosis 8 10.1 KRT74 KRT71
18 nail disease 10.0 RSPO4 FZD6
19 epidermolysis bullosa simplex 1a, generalized severe 10.0 KRT74 COL7A1
20 hypotrichosis 6 10.0 KRT81 KRT74 KRT71
21 familial woolly hair syndrome 9.9 KRT81 KRT74 KRT71
22 monilethrix 9.9 KRT81 KRT74 KRT71
23 pachyonychia congenita 1 9.8 KRT74 COL7A1
24 hypotrichosis 9.7 KRT74 KRT71 EDARADD
25 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 9.6 RSPO4 KRT74 KRT71 EDARADD
26 ectodermal dysplasia 4, hair/nail type 9.6 KRT81 KRT74 KRT71 EDARADD
27 hair disease 9.5 KRT81 KRT74 KRT71 EDARADD

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



Diseases related to Nonsyndromic Congenital Nail Disorder

Symptoms & Phenotypes for Nonsyndromic Congenital Nail Disorder

Drugs & Therapeutics for Nonsyndromic Congenital Nail Disorder

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

Genetic Tests for Nonsyndromic Congenital Nail Disorder

Anatomical Context for Nonsyndromic Congenital Nail Disorder

Publications for Nonsyndromic Congenital Nail Disorder

Articles related to Nonsyndromic Congenital Nail Disorder:

# Title Authors PMID Year
1
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred. 62
28545862 2017
2
Genetics of human isolated hereditary nail disorders. 62
26149975 2015

Variations for Nonsyndromic Congenital Nail Disorder

ClinVar genetic disease variations for Nonsyndromic Congenital Nail Disorder:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A16 NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) SNV Pathogenic
545498 rs771745123 GRCh37: 10:70287041-70287041
GRCh38: 10:68527284-68527284

Expression for Nonsyndromic Congenital Nail Disorder

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

Pathways for Nonsyndromic Congenital Nail Disorder

Pathways related to Nonsyndromic Congenital Nail Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.09 RSPO4 FZD6

GO Terms for Nonsyndromic Congenital Nail Disorder

Cellular components related to Nonsyndromic Congenital Nail Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratin filament GO:0045095 9.43 KRT81 KRT74 KRT71
2 intermediate filament GO:0005882 9.02 KRT81 KRT74 KRT71 IFFO2

Biological processes related to Nonsyndromic Congenital Nail Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT81 KRT74 KRT71
2 intermediate filament organization GO:0045109 9.1 KRT81 KRT74 KRT71

Molecular functions related to Nonsyndromic Congenital Nail Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of skin epidermis GO:0030280 9.1 KRT81 KRT74 KRT71

Sources for Nonsyndromic Congenital Nail Disorder

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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