LCCS
MCID: LTH003
MIFTS: 23

Lethal Congenital Contracture Syndrome (LCCS) malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Lethal Congenital Contracture Syndrome

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Aliases & Descriptions for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 11 48 13
Lethal Congenital Contracture Syndrome 1 68
 
Lccs 48

Classifications:



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Disease Ontology11 DOID:0060558
ICD1030 Q68.8

Summaries for Lethal Congenital Contracture Syndrome

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Disease Ontology:11 A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.

MalaCards based summary: Lethal Congenital Contracture Syndrome, also known as lethal congenital contracture syndrome 1, is related to lethal congenital contracture syndrome 1 and lethal congenital contractural syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1, RNA Export Mediator). Related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance (Z-score < -2).

Wikipedia:71 Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish... more...

Related Diseases for Lethal Congenital Contracture Syndrome

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Graphical network of diseases related to Lethal Congenital Contracture Syndrome:



Diseases related to lethal congenital contracture syndrome

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome

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GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1928.6ERBB3, GLE1, PIP5K1C
2GR00366-A-848.3ERBB3, GLE1, PIP5K1C

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Lethal Congenital Contracture Syndrome

Genetic Tests for Lethal Congenital Contracture Syndrome

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Anatomical Context for Lethal Congenital Contracture Syndrome

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Publications for Lethal Congenital Contracture Syndrome

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Articles related to Lethal Congenital Contracture Syndrome:

idTitleAuthorsYear
1
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). (25055871)
2014
2
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. (22357925)
2012
3
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. (22610851)
2012
4
Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3- kinase/Akt pathway. (17701904)
2007
5
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. (16892327)
2006
6
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. (15378541)
2004
7
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. (9683599)
1998
8
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. (9125342)
1996
9
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. (7897624)
1995
10
Lethal congenital contracture syndrome: further delineation and genetic aspects. (7966188)
1994

Variations for Lethal Congenital Contracture Syndrome

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Expression for genes affiliated with Lethal Congenital Contracture Syndrome

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Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome.

Pathways for genes affiliated with Lethal Congenital Contracture Syndrome

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GO Terms for genes affiliated with Lethal Congenital Contracture Syndrome

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Biological processes related to Lethal Congenital Contracture Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol phosphorylationGO:00468549.5ERBB3, PIP5K1C
2regulation of phosphatidylinositol 3-kinase signalingGO:00140669.3ERBB3, PIP5K1C
3Schwann cell differentiationGO:00140379.1ADGRG6, ERBB3

Sources for Lethal Congenital Contracture Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet