KEGG   DISEASE: H00642Help
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
Developmental disorder
BRITE hierarchy
Pathway
MAPK signaling pathway
Endocytosis
Regulation of actin cytoskeleton
Gene
FGF10 [HSA:2255] [KO:K04358]
FGFR2 [HSA:2263] [KO:K05093]
FGFR3 [HSA:2261] [KO:K05094]
Other DBs
MeSH: 
OMIM: 
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)
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)
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)
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)

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