KEGG   DISEASE: Nonsyndromic congenital nail disorderHelp
Entry
H01307                      Disease                                

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 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.
Category
Skin disease
Brite
Human diseases [BR:br08402]
 Skin diseases
  Skin and soft tissue diseases
   H01307  Nonsyndromic congenital nail disorder
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   Genetic syndromes affecting the skin
    EC22  Genetic defects of nails or nail growth
     H01307  Nonsyndromic congenital nail disorder
BRITE hierarchy
Pathway
hsa04020  Calcium signaling pathway
hsa04070  Phosphatidylinositol signaling system
hsa04310  Wnt signaling pathway
Gene
PLCD1 [HSA:5333] [KO:K05857]
RSPO4 [HSA:343637] [KO:K23099]
COL7A1 [HSA:1294] [KO:K16628]
FZD6 [HSA:8323] [KO:K02376]
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 614157 161200
Reference
  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
  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
  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
  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

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