KEGG   DISEASE: H01307Help
H01307                      Disease                                

Nonsyndromic congenital nail disorder (NDNC)
Nonsyndromic congenital nail disorder 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.
Developmental disorder
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H01307  Nonsyndromic congenital nail disorder (NDNC)
Human diseases in ICD-10 classification [BR:br08403]
 12. Diseases of the skin and subcutaneous tissue (L00-L99)
  L60-L75  Disorders of skin appendages
   L60  Nail disorders
    H01307  Nonsyndromic congenital nail disorder (NDNC)
BRITE hierarchy
Calcium signaling pathway
Phosphatidylinositol signaling system
Wnt signaling pathway
PLCD1 [HSA:5333] [KO:K05857]
RSPO4 [HSA:343637]
COL7A1 [HSA:1294] [KO:K16628]
FZD6 [HSA:8323] [KO:K02376]
Defects in RSPO4 are the cause of Anonychia congenita. [DS:H00683]
Dominant dystrophic epidermolysis bullosa is described in H00587. [DS:H00587]
Other DBs
Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail  dysplasia.
Br J Dermatol 166:1088-94 (2012)
Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
Am J Hum Genet 88:839-44 (2011)
Blaydon DC, Ishii Y, O'Toole EA, Unsworth HC, Teh MT, Ruschendorf F, Sinclair C, Hopsu-Havu VK, Tidman N, Moss C, Watson R, de Berker D, Wajid M, Christiano AM, Kelsell DP
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
Nat Genet 38:1245-7 (2006)
Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
J Dermatol Sci 34:195-200 (2004)

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