KEGG   DISEASE: ADULT syndromeHelp
Entry
H00641                      Disease                                

Name
ADULT syndrome
Description
ADULT syndrome is an acronym for acro-dermato-ungual-lacrimal-tooth syndrome. It is a rare autosomal dominant disorder characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of lacrimal ducts, and hypodontia. ADULT syndrome differs from EEC syndrome, an allelic disorder, by the absence of facial clefting.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00641  ADULT syndrome
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
    H00641  ADULT syndrome
BRITE hierarchy
Gene
TP63 (gain of function) [HSA:8626] [KO:K10149]
Comment
For EEC syndrome and EEC-related limb-mammary syndrome, see H00638 and H00640 respectively.
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.2
MeSH: C538052
OMIM: 103285
Reference
  Authors
Brunner HG, Hamel BC, Van Bokhoven H
  Title
The p63 gene in EEC and other syndromes.
  Journal
J Med Genet 39:377-81 (2002)
DOI:10.1136/jmg.39.6.377
Reference
  Authors
Brunner HG, Hamel BC, Bokhoven Hv H
  Title
P63 gene mutations and human developmental syndromes.
  Journal
Am J Med Genet 112:284-90 (2002)
DOI:10.1002/ajmg.10778
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
Amiel J, Bougeard G, Francannet C, Raclin V, Munnich A, Lyonnet S, Frebourg T
  Title
TP63 gene mutation in ADULT syndrome.
  Journal
Eur J Hum Genet 9:642-5 (2001)
DOI:10.1038/sj.ejhg.5200676

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