KEGG   DISEASE: Lacrimo-auriculo-dento-digital syndrome (LADD)Help
Entry
H00642                      Disease                                

Name
Lacrimo-auriculo-dento-digital syndrome (LADD);
Levy-Hollister syndrome
Description
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterizd by hypoplasia or aplasia of the lacrimal and salivary glands, cup shaped pinnae with sensorineural deafness, dental abnormalities with small teeth, and radial ray abnormalities in hands.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00642  Lacrimo-auriculo-dento-digital syndrome (LADD)
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04144  Endocytosis
hsa04810  Regulation of actin cytoskeleton
Gene
FGF10 [HSA:2255] [KO:K04358]
FGFR2 [HSA:2263] [KO:K05093]
FGFR3 [HSA:2261] [KO:K05094]
Other DBs
ICD-10: Q87.8
MeSH: C538132
OMIM: 149730
Reference
PMID:16501574 (gene)
  Authors
Rohmann E, Brunner HG, Kayserili H, Uyguner O, Nurnberg G, Lew ED, Dobbie A, Eswarakumar VP, Uzumcu A, Ulubil-Emeroglu M, Leroy JG, Li Y, Becker C, Lehnerdt K, Cremers CW, Yuksel-Apak M, Nurnberg P, Kubisch C, Schlessinger J, van Bokhoven H, Wollnik B
  Title
Mutations in different components of FGF signaling in LADD syndrome.
  Journal
Nat Genet 38:414-7 (2006)
DOI:10.1038/ng1757
Reference
PMID:17682060 (gene)
  Authors
Shams I, Rohmann E, Eswarakumar VP, Lew ED, Yuzawa S, Wollnik B, Schlessinger J, Lax I
  Title
Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.
  Journal
Mol Cell Biol 27:6903-12 (2007)
DOI:10.1128/MCB.00544-07
Reference
PMID:8411061 (description)
  Authors
Lacombe D, Serville F, Marchand D, Battin J
  Title
Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.
  Journal
J Med Genet 30:700-3 (1993)
DOI:10.1136/jmg.30.8.700
Reference
PMID:12070241 (description)
  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

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