MCID: LTH003
MIFTS: 26

Lethal Congenital Contracture Syndrome malady

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome

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Aliases & Descriptions for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 45
Lethal Congenital Contracture Syndrome 1 65
 
Lccs 45

Classifications:



External Ids:

UMLS65 C1854664

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 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 ZBTB42 (Zinc Finger And BTB Domain Containing 42), and among its related pathways are Arf6 trafficking events and Endocrine and other factor-regulated calcium reabsorption. Affiliated tissues include tongue, monocytes and lung, and 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 34)
idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contracture syndrome 112.8
2lethal congenital contractural syndrome 212.8
3lethal congenital contractural syndrome 312.8
4lethal congenital contracture syndrome 412.8
5lethal congenital contracture syndrome 512.7
6lethal congenital contracture syndrome 612.7
7lethal congenital contracture syndrome 812.7
8lethal congenital contracture syndrome 712.7
9lethal congenital contracture syndrome 912.7
10hepatocellular carcinoma11.3
11leukoencephalopathy, cerebral calcifications, and cysts11.3
12lung large cell carcinoma10.5
13arthrogryposis, lethal, with anterior horn cell disease10.4
14generalized anxiety disorder10.4
15anxiety disorder10.4
16cerebroretinal microangiopathy with calcifications and cysts10.3
17atherosclerosis10.2
18myasthenia gravis10.2
19pemphigus foliaceus10.2
20cardiac arrest10.2
21borderline personality disorder10.2
22prostatitis10.2
23personality disorder10.2
24gingival overgrowth10.2
25gingivitis10.2
26pemphigus10.2
27cardiogenic shock10.2
28vulvovaginal rhabdomyosarcoma10.0ADCY6, CNTNAP1
29low compliance bladder10.0ERBB3, PIP5K1C
30spastic paraplegia 39, autosomal recessive10.0MYBPC1, PIP5K1C
31rheumatoid lung disease9.8CNTNAP1, ZBTB42
32arthrogryposis, distal, type 2b9.6ADGRG6, MYBPC1
33atelosteogenesis9.6ADGRG6, MYBPC1
34lethal short limb skeletal dysplasia al gazali type7.9ADCY6, 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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MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome:

33
Tongue, Monocytes, Lung

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:00053698.0ADCY6, ADGRG6, CNTNAP1, DNM2, ERBB3

Publications for Lethal Congenital Contracture Syndrome

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Articles related to Lethal Congenital Contracture Syndrome:

idTitleAuthorsYear
1
Mitotane Inhibits Sterol-O-Acyl Transferase 1 Triggering Lipid-Mediated Endoplasmic Reticulum Stress and Apoptosis in Adrenocortical Carcinoma Cells. (26305886)
2015
2
Hepatic sinusoidal obstruction syndrome during chemotherapy for childhood medulloblastoma: report of a case and review of the literature. (24276042)
2014
3
Overexpression of the TXNDC5 protein in non-small cell lung carcinoma. (21617212)
2011
4
Differential expression of CD150 (SLAM) on monocytes and macrophages in chronic inflammatory contexts: abundant in Crohn's disease, but not in multiple sclerosis. (15623499)
2005
5
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. (12771259)
2003
6
Expression of estrogen receptors alpha and beta in human tongue squamous cancer cell and influence of beta-estradiol on the proliferation of tongue cancer cell]. (21207861)
2003
7
Benefits of combination therapy in hypertensive patients with associated coronary artery disease: a subgroup with specific demands. (9605599)
1998
8
Scenario of chronic dermatophytosis: an Indian study. (9691500)
1997-1998
9
Blood alcohol concentrations after oral alcohol administration--effect of age and sex]. (9012221)
1996
10
Acyl-CoA binding proteins: multiplicity and function. (8882970)
1996

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol phosphorylationGO:00468549.7ERBB3, 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