KEGG   DISEASE: Odontoonychodermal dysplasiaHelp
Entry
H00646                      Disease                                

Name
Odontoonychodermal dysplasia
Description
Odontoonychodermal dysplasia is a rare autosomal recessive ectodermal dysplasia that presents dry hair, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma of palms and soles.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00646  Odontoonychodermal dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00646  Odontoonychodermal dysplasia
BRITE hierarchy
Pathway
hsa04310  Wnt signaling pathway
hsa04340  Hedgehog signaling pathway
hsa04916  Melanogenesis
hsa05200  Pathways in cancer
Gene
WNT10A (nonsense mutation) [HSA:80326] [KO:K01357]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q82.4
MeSH: C537742
OMIM: 257980
Reference
PMID:6837628
  Authors
Fadhil M, Ghabra TA, Deeb M, Der Kaloustian VM
  Title
Odontoonychodermal dysplasia: a previously apparently undescribed ectodermal dysplasia.
  Journal
Am J Med Genet 14:335-46 (1983)
DOI:10.1002/ajmg.1320140213
Reference
  Authors
Priolo M
  Title
Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.
  Journal
Am J Med Genet A 149A:2003-13 (2009)
DOI:10.1002/ajmg.a.32804
Reference
  Authors
Adams BB
  Title
Odonto-onycho-dermal dysplasia syndrome.
  Journal
J Am Acad Dermatol 57:732-3 (2007)
DOI:10.1016/j.jaad.2007.04.015
Reference
  Authors
Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A
  Title
Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
  Journal
Am J Hum Genet 81:821-8 (2007)
DOI:10.1086/520064

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