KEGG   DISEASE: Limb-mammary syndromeHelp
Entry
H00640                      Disease                                

Name
Limb-mammary syndrome
Description
Limb-mammary syndrome (LMS) is a condition characterized by ectrodactyly, cleft palate, and aplasia or hypoplasia of the mammary gland and nipple. Unlike its allelic disorder EEC syndrome, LMS patients do not have hair and skin defects.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00640  Limb-mammary 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
    H00640  Limb-mammary syndrome
BRITE hierarchy
Gene
TP63 [HSA:8626] [KO:K10149]
Comment
For EEC syndrome, see H00638.
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.2
MeSH: C535903
OMIM: 603543
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

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