KEGG   DISEASE: H00865Help
Entry
H00865                      Disease                                

Name
Lethal congenital contractural syndrome (LCCS)
Description
Lethal congenital contractural syndrome (LCCS) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures with a severe form of arthrogryposis. LCCS is inherited in an autosomal recessive manner. It has a worldwide incidence, but it is more common in isolated populations, such as Finland and the Bedouin community in Israel. Mutations in GLE1, ERBB3, and PIP5K1C are associated with LCCS.
Category
Musculoskeletal disease
BRITE hierarchy
Pathway
Inositol phosphate metabolism
ErbB signaling pathway
Calcium signaling pathway
Phosphatidylinositol signaling system
Endocytosis
Focal adhesion
Regulation of actin cytoskeleton
Gene
(LCCS1) GLE1 [HSA:2733]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
Other DBs
Reference
PMID:18204449 (gene)
  Authors
Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
  Title
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
  Journal
Nat Genet 40:155-7 (2008)
Reference
PMID:17701904 (gene)
  Authors
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
  Title
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
  Journal
Am J Hum Genet 81:589-95 (2007)
Reference
PMID:17701898 (description, gene)
  Authors
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS
  Title
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
  Journal
Am J Hum Genet 81:530-9 (2007)

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