MCID: LTH003
MIFTS: 33

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 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 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 Endocytic Trafficking of EGFR and Phospholipase D signaling pathway. Related mouse phenotypes are Increased viability with SS1P at EC90 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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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 29)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, lethal, with anterior horn cell disease30.1FUS, GLE1, MBP, PIP5K1C, SON, TARDBP
2lethal congenital contracture syndrome 112.5
3lethal congenital contractural syndrome 212.4
4lethal congenital contractural syndrome 312.4
5lethal congenital contracture syndrome 412.4
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
11lung large cell carcinoma11.0
12hepatocellular carcinoma10.8
13cerebroretinal microangiopathy with calcifications and cysts10.8
14vulvovaginal rhabdomyosarcoma10.5ADCY6, CNTNAP1
15boucher-neuhauser syndrome10.4MYBPC1, PIP5K1C
16congenital contractures10.3
17subdural empyema10.1FUS, TARDBP
18brachial plexus neuropathy10.0DNM2, NOTCH1
19congenital hypoplastic anemia9.9MBP, TARDBP
20ectodermal dysplasia 9, hair/nail type9.8EGF, ERBB3, GLE1, NTRK1, PIP5K1C
21anterior horn cell disease9.8
22breast adenoid cystic carcinoma9.8FUS, GLE1, SON, TARDBP
23zimmermann-laband syndrome 29.8EGF, ERBB3, NOTCH1
24osteogenesis imperfecta, type vi9.7FUS, TARDBP
25nasal cavity inverting papilloma9.7FUS, MBP, TARDBP
26chondromalacia9.6EGF, MBP, NOTCH1
27angiomyolipoma9.4FUS, MBP, TARDBP
28chronic intestinal vascular insufficiency9.4FUS, MBP, PAX6, TARDBP
29ledderhose disease9.2ADCY6, 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 & 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
1GR00376-A-110.3DNM2, SON, ZBTB42
2GR00366-A-589.3DNM2, ERBB3, GLE1, NTRK1, PIP5K1C

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.7CNTNAP1, DNM2, EGF, ISL1, MBP, NOTCH1
2MP:00028737.6DNM2, EGF, ERBB3, ISL1, MBP, NOTCH1
3MP:00053697.6ADCY6, ADGRG6, CNTNAP1, DNM2, ERBB3, ISL1
4MP:00053867.4ADCY6, ADGRG6, CNTNAP1, ERBB3, ISL1, MBP
5MP:00053847.1ADGRG6, DNM2, ERBB3, ISL1, LCN2, MBP
6MP:00053786.9ADGRG6, CNTNAP1, DNM2, EGF, ERBB3, ISL1
7MP:00053876.8EGF, ERBB3, ISL1, LCN2, MBP, NOTCH1
8MP:00036316.6ADGRG6, CNTNAP1, DNM2, ERBB3, ISL1, MBP
9MP:00107686.1ADGRG6, CNTNAP1, DNM2, ERBB3, GLE1, ISL1

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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Clinvar genetic disease variations for Lethal Congenital Contracture Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GLE1NM_001003722.1(GLE1): c.433-10A> GSNVPathogenicrs386833693GRCh37Chr 9, 131284937: 131284937
2GLE1NM_001003722.1(GLE1): c.1706G> A (p.Arg569His)SNVPathogenicrs121434407GRCh37Chr 9, 131298693: 131298693

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

idNameGO IDScoreTop Affiliating Genes
1phagocytic cupGO:000189110.6DNM2, PIP5K1C
2receptor complexGO:00432358.9EGF, ERBB3, NOTCH1, NTRK1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of secretionGO:005104810.6EGF, ERBB3
2innervationGO:006038410.4ISL1, NTRK1
3phosphatidylinositol phosphorylationGO:004685410.3EGF, ERBB3, PIP5K1C
4endocardial cushion developmentGO:000319710.3ERBB3, NOTCH1
5endocardial cushion morphogenesisGO:000320310.2ISL1, NOTCH1
6astrocyte differentiationGO:004870810.2NOTCH1, PAX6
7negative regulation of neurogenesisGO:005076810.1NOTCH1, PAX6
8phosphatidylinositol-mediated signalingGO:004801510.1EGF, ERBB3, NTRK1
9negative regulation of neuron differentiationGO:00456659.8ISL1, NOTCH1, PAX6
10neuron fate commitmentGO:00486639.8ISL1, NOTCH1, PAX6
11regulation of phosphatidylinositol 3-kinase signalingGO:00140669.7EGF, ERBB3, PIP5K1C

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

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00055154.4ADCY6, CNTNAP1, DNM2, EGF, ERBB3, FUS

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