KEGG DISEASE: Lethal congenital contractural syndrome

DISEASE: Lethal congenital contractural syndrome

Entry

H00865                      Disease

Name

Lethal congenital contractural syndrome

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. Several mutations associated with LCCS have been reported.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD26  Syndromes with limb anomalies as a major feature
    H00865  Lethal congenital contractural syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00865  Lethal congenital contractural syndrome
  nt06546  IgSF CAM signaling
   H00865  Lethal congenital contractural syndrome

Pathway

hsa04820

Cytoskeleton in muscle cells

hsa04517

IGSF CAM signaling

Network

nt06539 Cytoskeleton in muscle cells
nt06546 IgSF CAM signaling

Gene

(LCCS1) GLE1 [HSA:2733] [KO:K18723]
(LCCS2) ERBB3 [HSA:2065] [KO:K05084]
(LCCS3) PIP5K1C [HSA:23396] [KO:K00889]
(LCCS4) MYBPC1 [HSA:4604] [KO:K12557]
(LCCS5) DNM2 [HSA:1785] [KO:K23484]
(LCCS6) ZBTB42 [HSA:100128927] [KO:K23196]
(LCCS7) CNTNAP1 [HSA:8506] [KO:K07379]
(LCCS8) ADCY6 [HSA:112] [KO:K08046]
(LCCS9) ADGRG6 [HSA:57211] [KO:K08463]
(LCCS10) NEK9 [HSA:91754] [KO:K20878]
(LCCS11) GLDN [HSA:342035] [KO:K16364]

Other DBs

ICD-11:

LD26.4Y

MeSH:

C537194 C564369 C566961

OMIM:

253310 607598 611369 614915 615368 616248 616286 616287 616503 617022 617194

Reference

PMID:18204449 (GLE1)

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)
DOI:10.1038/ng.2007.65

Reference

PMID:17701904 (ERBB3)

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)
DOI:10.1086/520770

Reference

PMID:17701898 (PIP5K1C)

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)
DOI:10.1086/520771

Reference

PMID:22610851 (MYBPC1)

Authors

Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS

Title

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Journal

Hum Mutat 33:1435-8 (2012)
DOI:10.1002/humu.22122

Reference

PMID:23092955 (DNM2)

Authors

Koutsopoulos OS, Kretz C, Weller CM, Roux A, Mojzisova H, Bohm J, Koch C, Toussaint A, Heckel E, Stemkens D, Ter Horst SA, Thibault C, Koch M, Mehdi SQ, Bijlsma EK, Mandel JL, Vermot J, Laporte J

Title

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

Journal

Eur J Hum Genet 21:637-42 (2013)
DOI:10.1038/ejhg.2012.226

Reference

PMID:25055871 (ZBTB42)

Authors

Patel N, Smith LL, Faqeih E, Mohamed J, Gupta VA, Alkuraya FS

Title

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

Journal

Hum Mol Genet 23:6584-93 (2014)
DOI:10.1093/hmg/ddu384

Reference

PMID:24319099 (CNTNAP1 ADCY6)

Authors

Laquerriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Heron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attie-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrere AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J

Title

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Journal

Hum Mol Genet 23:2279-89 (2014)
DOI:10.1093/hmg/ddt618

Reference

PMID:26004201 (ADGRG6)

Authors

Ravenscroft G, Nolent F, Rajagopalan S, Meireles AM, Paavola KJ, Gaillard D, Alanio E, Buckland M, Arbuckle S, Krivanek M, Maluenda J, Pannell S, Gooding R, Ong RW, Allcock RJ, Carvalho ED, Carvalho MD, Kok F, Talbot WS, Melki J, Laing NG

Title

Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.

Journal

Am J Hum Genet 96:955-61 (2015)
DOI:10.1016/j.ajhg.2015.04.014

Reference

PMID:26908619 (NEK9)

Authors

Casey JP, Brennan K, Scheidel N, McGettigan P, Lavin PT, Carter S, Ennis S, Dorkins H, Ghali N, Blacque OE, Mc Gee MM, Murphy H, Lynch SA

Title

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Journal

Hum Mol Genet 25:1824-35 (2016)
DOI:10.1093/hmg/ddw054

Reference

PMID:27616481 (GLDN)

Authors

Maluenda J, Manso C, Quevarec L, Vivanti A, Marguet F, Gonzales M, Guimiot F, Petit F, Toutain A, Whalen S, Grigorescu R, Coeslier AD, Gut M, Gut I, Laquerriere A, Devaux J, Melki J

Title

Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Journal

Am J Hum Genet 99:928-933 (2016)
DOI:10.1016/j.ajhg.2016.07.021

LinkDB

» Japanese version

DISEASE: Congenital hypomyelinating neuropathy

Entry

H02357                      Disease

Name

Congenital hypomyelinating neuropathy

Description

Congenital hypomyelinating neuropathy (CHN) is a rare congenital neuropathy, often accompanied by arthrogryposis, that is characterized by prenatal onset, areflexia, hypotonia, hypomyelination, and slowed nerve conduction velocities. Previous reports of genetic analyses of patients have described mutations in genes known to be important in myelination.