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H00865                      Disease                                

Lethal congenital contractural syndrome (LCCS)
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.
Musculoskeletal disease
Human diseases [BR:br08402]
 Musculoskeletal diseases
  Muscular diseases
   H00865  Lethal congenital contractural syndrome (LCCS)
BRITE hierarchy
Inositol phosphate metabolism
ErbB signaling pathway
Calcium signaling pathway
Phosphatidylinositol signaling system
Focal adhesion
Regulation of actin cytoskeleton
(LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
Other DBs
PMID:18204449 (gene)
Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nat Genet 40:155-7 (2008)
PMID:17701904 (gene)
Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway.
Am J Hum Genet 81:589-95 (2007)
PMID:17701898 (description, gene)
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
Am J Hum Genet 81:530-9 (2007)

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