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

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]

PMID:22211385

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)

PMID:21665001

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)

PMID:17041604

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)

PMID:15113589

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)