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MCID: NNS071
MIFTS: 11
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Nonsyndromic Congenital Nail Disorder
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Nonsyndromic Congenital Nail Disorder:Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Skin diseases Bone diseases External Ids:
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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. |
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MalaCards organs/tissues related to Nonsyndromic Congenital Nail Disorder:40
Skin
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Search
GEO
for disease gene expression data for Nonsyndromic Congenital Nail Disorder.
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