MCID: LTH003
MIFTS: 28

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 lung, tongue and prostate, 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 22)
idRelated DiseaseScoreTop Affiliating Genes
1lethal congenital contracture syndrome 112.5
2lethal congenital contractural syndrome 212.4
3lethal congenital contractural syndrome 312.4
4lethal congenital contracture syndrome 412.4
5lethal congenital contracture syndrome 512.3
6lethal congenital contracture syndrome 612.3
7lethal congenital contracture syndrome 812.3
8lethal congenital contracture syndrome 712.3
9lethal congenital contracture syndrome 912.3
10hepatocellular carcinoma10.9
11leukoencephalopathy, cerebral calcifications, and cysts10.9
12congenital contractures10.4
13lung large cell carcinoma10.1
14arthrogryposis, lethal, with anterior horn cell disease10.0
15vulvovaginal rhabdomyosarcoma10.0ADCY6, CNTNAP1
16low compliance bladder10.0ERBB3, PIP5K1C
17spastic paraplegia 39, autosomal recessive9.9MYBPC1, PIP5K1C
18anterior horn cell disease9.9
19rheumatoid lung disease9.7CNTNAP1, ZBTB42
20arthrogryposis, distal, type 2b9.4ADGRG6, MYBPC1
21atelosteogenesis9.4ADGRG6, MYBPC1
22lethal short limb skeletal dysplasia al gazali type6.8ADCY6, 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
Lung, Tongue, Prostate, Monocytes

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
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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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