KEGG   DISEASE: 非症候性先天性爪疾患
エントリ  
H01307                                                             
名称    
非症候性先天性爪疾患
  下位グループ
先天性無爪 [DS:H00683]
概要    
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.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC22  爪または爪伸長の遺伝子異常
    H01307  非症候性先天性爪疾患
パスウェイに基づく疾患分類 [BR:jp08402]
 シグナル伝達
  nt06505  WNT シグナリング
   H01307  非症候性先天性爪疾患
  nt06528  カルシウムシグナリング
   H01307  非症候性先天性爪疾患
パスウェイ 
hsa04310  Wnt signaling pathway
hsa04020  Calcium signaling pathway
ネットワーク
nt06505 WNT signaling
nt06528 Calcium signaling
病因遺伝子 
(NDNC1) FZD6 [HSA:8323] [KO:K02376]
(NDNC3) PLCD1 [HSA:5333] [KO:K05857]
(NDNC4) RSPO4 [HSA:343637] [KO:K23099]
(NDNC8) COL7A1 [HSA:1294] [KO:K16628]
コメント  
Defects in RSPO4 are the cause of Anonychia congenita. [DS:H00683]
Dominant dystrophic epidermolysis bullosa is described in H00587. [DS:H00587]
リンク   
ICD-11: EC22.0
MeSH: C562907
OMIM: 161050 151600 607523
文献    
PMID:22211385 (NDNC1)
  著者
Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC
  タイトル
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
  雑誌
Br J Dermatol 166:1088-94 (2012)
DOI:10.1111/j.1365-2133.2011.10800.x
文献    
PMID:21665001 (NDNC3)
  著者
Kiuru M, Kurban M, Itoh M, Petukhova L, Shimomura Y, Wajid M, Christiano AM
  タイトル
Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1.
  雑誌
Am J Hum Genet 88:839-44 (2011)
DOI:10.1016/j.ajhg.2011.05.014
文献    
PMID:17041604 (NDNC4)
  著者
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
  タイトル
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.
  雑誌
Nat Genet 38:1245-7 (2006)
DOI:10.1038/ng1883
文献    
PMID:15113589 (NDNC8)
  著者
Nakamura H, Sawamura D, Goto M, Sato-Matsumura KC, LaDuca J, Lee JY, Masunaga T, Shimizu H
  タイトル
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
  雑誌
J Dermatol Sci 34:195-200 (2004)
DOI:10.1016/j.jdermsci.2004.02.005
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