MCID: LTH003
MIFTS: 26

Lethal Congenital Contracture Syndrome 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 46
Lethal Congenital Contracture Syndrome 1 66
 
Lccs 46

Classifications:



Summaries for Lethal Congenital Contracture Syndrome

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Wikipedia:69 Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish... more...

MalaCards based summary: Lethal Congenital Contracture Syndrome, also known as lethal congenital contracture syndrome 1, is related to arthrogryposis, lethal, with anterior horn cell disease and lethal congenital contracture syndrome 1. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1, RNA Export Mediator), and among its related pathways are Arf6 trafficking events and Endocrine and other factor-regulated calcium reabsorption. Related mouse phenotype muscle.

Related Diseases for Lethal Congenital Contracture Syndrome

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Diseases in the Lethal Congenital Contracture Syndrome family:

Lethal Congenital Contracture Syndrome 9 Lethal Congenital Contracture Syndrome 1
Lethal Congenital Contracture Syndrome 8 Lethal Congenital Contracture Syndrome 4
Lethal Congenital Contracture Syndrome 6 Lethal Congenital Contracture Syndrome 7
Lethal Congenital Contracture Syndrome 5

Diseases related to Lethal Congenital Contracture Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, lethal, with anterior horn cell disease30.1GLE1, PIP5K1C
2lethal congenital contracture syndrome 112.5
3lethal congenital contractural syndrome 212.4
4lethal congenital contracture syndrome 412.4
5lethal congenital contractural syndrome 312.4
6lethal congenital contracture syndrome 512.3
7lethal congenital contracture syndrome 612.3
8lethal congenital contracture syndrome 812.3
9lethal congenital contracture syndrome 712.3
10lethal congenital contracture syndrome 912.3
11hepatocellular carcinoma10.9
12leukoencephalopathy, cerebral calcifications, and cysts10.9
13congenital contractures10.4
14lung large cell carcinoma10.1
15boucher-neuhauser syndrome10.0MYBPC1, PIP5K1C
16hereditary night blindness10.0CNTNAP1, ZBTB42
17anterior horn cell disease9.9
18ectodermal dysplasia 9, hair/nail type9.9ERBB3, GLE1, PIP5K1C
19vulvovaginal rhabdomyosarcoma9.8ADCY6, CNTNAP1
20detrusor sphincter dyssynergia9.8ERBB3, PIP5K1C
21ledderhose disease6.7ADCY6, ADGRG6, CNTNAP1, DNM2, ERBB3, GLE1

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome:



Diseases related to lethal congenital contracture syndrome

Symptoms for Lethal Congenital Contracture Syndrome

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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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Animal Models for Lethal Congenital Contracture Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0ADCY6, ADGRG6, CNTNAP1, DNM2, ERBB3

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

idSuper pathwaysScoreTop Affiliating Genes
19.6DNM2, PIP5K1C
29.5ADCY6, DNM2
39.2DNM2, ERBB3, PIP5K1C
4
Show member pathways
9.1ADCY6, DNM2, PIP5K1C

GO Terms for genes affiliated with Lethal Congenital Contracture Syndrome

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Cellular components related to Lethal Congenital Contracture Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phagocytic cupGO:00018919.6DNM2, PIP5K1C
2ruffle membraneGO:00325879.3DNM2, PIP5K1C

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

idNameGO IDScoreTop Affiliating Genes
1regulation of phosphatidylinositol 3-kinase signalingGO:001406610.0ERBB3, PIP5K1C
2phagocytosisGO:00069099.5DNM2, PIP5K1C
3neuron projection morphogenesisGO:00488129.5CNTNAP1, DNM2
4cAMP-mediated signalingGO:00199339.2ADCY6, ADGRG6

Sources for Lethal Congenital Contracture Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet