KEGG DISEASE: Nonsyndromic congenital nail disorder

KEGG

DISEASE: Nonsyndromic congenital nail disorder

Entry

H01307                      Disease

Name

Nonsyndromic congenital nail disorder

Subgroup

Anonychia congenita [DS:H00683]

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC22  Genetic defects of nails or nail growth
    H01307  Nonsyndromic congenital nail disorder
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H01307  Nonsyndromic congenital nail disorder
  nt06528  Calcium signaling
   H01307  Nonsyndromic congenital nail disorder

Pathway

Wnt signaling pathway

Calcium signaling pathway

Network

nt06505 WNT signaling
nt06528 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]

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:

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

Reference

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

Reference

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

Reference

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

LinkDB

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