H01307 | |
H number | H01307 |
Name | Nonsyndromic congenital nail disorder |
Description | Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is a variable expression of nail phenotypes among individuals. It has been identified that mutations in the RSPO4 and FZD6, components of the Wnt pathway, cause 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. |
Category | Skin disease |
Network | nt06505(H01307) WNT signaling nt06528(H01307) Calcium signaling |
Gene | (NDNC1) FZD6 [HSA:8323] [KO:K02376] (NDNC3) PLCD1 [HSA:5333] [KO:K05857] (NDNC4) RSPO4 [HSA:343637] [KO:K23099] (NDNC8) COL7A1 [HSA:1294] [KO:K16628] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Defects in RSPO4 are the cause of Anonychia congenita. [DS:H00683] Dominant dystrophic epidermolysis bullosa is described in H00587. [DS:H00587] |
Other DBs | ICD-11: EC22.0 ICD-10: L60.3 OMIM: 161050 151600 206800 607523 |
Reference | PMID:22211385 (NDNC1) AUTHORS Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC TITLE FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. JOURNAL Br J Dermatol 166:1088-94 (2012) DOI:10.1111/j.1365-2133.2011.10800.x PMID:21665001 (NDNC3) AUTHORS Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM TITLE Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. JOURNAL Am J Hum Genet 88:839-44 (2011) DOI:10.1016/j.ajhg.2011.05.014 PMID:17041604 (NDNC4) AUTHORS 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 TITLE The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. JOURNAL Nat Genet 38:1245-7 (2006) DOI:10.1038/ng1883 PMID:15113589 (NDNC8) AUTHORS Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H TITLE The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. JOURNAL J Dermatol Sci 34:195-200 (2004) DOI:10.1016/j.jdermsci.2004.02.005 |