KEGG DISEASE: ADULT syndrome

DISEASE: ADULT syndrome

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 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

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:

ICD-10:

MeSH:

OMIM:

Reference

PMID:12070241

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

PMID:12357472

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

PMID:19504607

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

PMID:11528512

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

» Japanese version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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