KEGG   DISEASE: Odontoonychodermal dysplasia
Entry
H00646                      Disease                                
Name
Odontoonychodermal dysplasia
Description
Odontoonychodermal dysplasia (OODD) 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 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
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06505  WNT signaling
   H00646  Odontoonychodermal dysplasia
Pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04310  Wnt signaling pathway
hsa04916  Melanogenesis
hsa04390  Hippo signaling pathway
Network
nt06505 WNT signaling
Gene
WNT10A [HSA:80326] [KO:K01357]
Other DBs
ICD-11: LD27.0Y
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
PMID:17847007 (WNT10A)
  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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