| H00642 | |
| H number | H00642 |
| 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 |
| Network | - |
| Gene | (LADD1) FGFR2 [HSA:2263] [KO:K05093] (LADD2) FGFR3 [HSA:2261] [KO:K05094] (LADD3) FGF10 [HSA:2255] [KO:K04358] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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 |