MCID: NNS071
MIFTS: 11

Nonsyndromic Congenital Nail Disorder

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

Aliases & Classifications for Nonsyndromic Congenital Nail Disorder

MalaCards integrated aliases for Nonsyndromic Congenital Nail Disorder:

Name: Nonsyndromic Congenital Nail Disorder 12 36

Classifications:



External Ids:

Disease Ontology 12 DOID:0080683
KEGG 36 H01307

Summaries for Nonsyndromic Congenital Nail Disorder

KEGG : 36 Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is variable expression of nail phenotypes among individuals. It have identified that mutations in the RSPO4 and FZD6, components of the Wnt pathway, cause the hypoplastic nail disorders. Hereditary leukonychia is caused by mutations in PLCD1. Defects in COL7A1 can cause heterogeneous clinical phenotypes extending from simple toe nail dystrophy without skin fragility to typical dominant dystrophic epidermolysis bullosa.

MalaCards based summary : Nonsyndromic Congenital Nail Disorder is related to nail disorder, nonsyndromic congenital, 1 and nail disorder, nonsyndromic congenital, 4. An important gene associated with Nonsyndromic Congenital Nail Disorder is NDNC9 (Nail Disorder, Nonsyndromic Congenital, 9), and among its related pathways/superpathways are Calcium signaling pathway and Phosphatidylinositol signaling system. Affiliated tissues include skin.

Disease Ontology : 12 A nail disease that is characterized by underdevelopment of nails.

Related Diseases for Nonsyndromic Congenital Nail Disorder

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

MalaCards organs/tissues related to Nonsyndromic Congenital Nail Disorder:

40
Skin

Publications for Nonsyndromic Congenital Nail Disorder

Variations for Nonsyndromic Congenital Nail Disorder

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 KEGG:

36
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Phosphatidylinositol signaling system hsa04070
3 Wnt signaling pathway hsa04310

GO Terms for Nonsyndromic Congenital Nail Disorder

Sources for Nonsyndromic Congenital Nail Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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