MCID: LTH003
MIFTS: 23

Lethal Congenital Contracture Syndrome malady

Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases categories

Aliases & Classifications for Lethal Congenital Contracture Syndrome

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Aliases & Descriptions for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 45
 
Lccs 45


Classifications:



Summaries for Lethal Congenital Contracture Syndrome

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Wikipedia:68 Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish... more...

MalaCards based summary: Lethal Congenital Contracture Syndrome, also known as lccs, 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), and among its related pathways are Arf6 trafficking events and Fc gamma R-mediated phagocytosis. 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 31)
idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contracture syndrome 110.8
2lethal congenital contractural syndrome 210.7
3lethal congenital contractural syndrome 310.7
4congenital contractures10.7
5lethal congenital contracture syndrome 410.7
6lethal congenital contracture syndrome 810.6
7lethal congenital contracture syndrome 710.6
8lethal congenital contracture syndrome 910.6
9lethal congenital contracture syndrome 610.6
10lethal congenital contracture syndrome 510.6
11arthrogryposis, lethal, with anterior horn cell disease10.2
12anterior horn cell disease10.2
13hepatocellular carcinoma10.0
14pick disease10.0
15cerebroretinal microangiopathy with calcifications and cysts10.0
16adjustment disorder10.0
17endocrine gland cancer10.0
18fallopian tube cancer10.0
19fallopian tube disease10.0
20female reproductive organ cancer10.0
21female reproductive system disease10.0
22gonadal disease10.0
23ovarian cancer10.0
24ovarian disease10.0
25peritoneum cancer10.0
26leukoencephalopathy, cerebral calcifications, and cysts10.0
27ovarian epithelial cancer10.0
28central pterygium10.0ERBB3, PIP5K1C
29vulvovaginal rhabdomyosarcoma9.9ADCY6, CNTNAP1
30spastic paraplegia 39, autosomal recessive9.7MYBPC1, PIP5K1C
31lethal short limb skeletal dysplasia al gazali type8.7ADCY6, CNTNAP1, DNM2, ERBB3, GLE1, MYBPC1

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4ADCY6, 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 pathways (with members indented)ScoreTop Affiliating Genes
19.4DNM2, PIP5K1C
29.4DNM2, PIP5K1C
39.3ADCY6, DNM2
49.0DNM2, ERBB3, PIP5K1C
5
Show member pathways
8.5CNTNAP1, DNM2, ERBB3, 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
1ruffle membraneGO:00325879.4DNM2, PIP5K1C
2phagocytic cupGO:00018919.1DNM2, PIP5K1C

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

idNameGO IDScoreTop Affiliating Genes
1neuron projection morphogenesisGO:00488129.4CNTNAP1, DNM2
2axon guidanceGO:00074119.1CNTNAP1, ERBB3, PIP5K1C

Sources for Lethal Congenital Contracture Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet