KEGG   DISEASE: Lacrimo-auriculo-dento-digital syndrome
Entry
H00642                      Disease                                
Name
Lacrimo-auriculo-dento-digital syndrome;
LADD syndrome;
Levy-Hollister syndrome
Description
Lacrimo-auriculo-dento-digital (LADD) syndrome is an autosomal dominant disorder characterized 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 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
    H00642  Lacrimo-auriculo-dento-digital syndrome
Pathway
hsa04020  Calcium signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04010  MAPK signaling pathway
hsa04810  Regulation of actin cytoskeleton
hsa04015  Rap1 signaling pathway
hsa04144  Endocytosis
hsa04550  Signaling pathways regulating pluripotency of stem cells
Gene
(LADD1) FGFR2 [HSA:2263] [KO:K05093]
(LADD2) FGFR3 [HSA:2261] [KO:K05094]
(LADD3) FGF10 [HSA:2255] [KO:K04358]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.8
MeSH: C538132
OMIM: 149730 620192 620193
Reference
PMID:8411061
  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:17682060 (FGF10, FGFR2)
  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:16501574 (FGF10, FGFR2, FGFR3)
  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
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