MCID: LTH003
MIFTS: 28

Lethal Congenital Contracture Syndrome

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 12 72 49 14
Lethal Congenital Contracture Syndrome 1 69
Lccs 49

Classifications:



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Disease Ontology 12 DOID:0060558
ICD10 32 Q68.8

Summaries for Lethal Congenital Contracture Syndrome

Disease Ontology : 12 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 lethal congenital contracture syndrome 2 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/superpathways are Clathrin-mediated endocytosis and Fc gamma R-mediated phagocytosis. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 72 Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish... more...

Related Diseases for Lethal Congenital Contracture Syndrome

Diseases in the Lethal Congenital Contracture Syndrome family:

Lethal Congenital Contracture Syndrome 1 Lethal Congenital Contracture Syndrome 2
Lethal Congenital Contracture Syndrome 3 Lethal Congenital Contracture Syndrome 4
Lethal Congenital Contracture Syndrome 5 Lethal Congenital Contracture Syndrome 6
Lethal Congenital Contracture Syndrome 7 Lethal Congenital Contracture Syndrome 8
Lethal Congenital Contracture Syndrome 9 Lethal Congenital Contracture Syndrome 10
Lethal Congenital Contracture Syndrome 11

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

(show all 16)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 2 33.3 GLE1 PIP5K1C
2 lethal congenital contracture syndrome 1 33.1 GLE1 PIP5K1C
3 lethal congenital contracture syndrome 4 12.6
4 lethal congenital contracture syndrome 6 12.5
5 lethal congenital contracture syndrome 3 12.5
6 lethal congenital contracture syndrome 11 12.5
7 lethal congenital contracture syndrome 5 12.4
8 lethal congenital contracture syndrome 7 12.4
9 lethal congenital contracture syndrome 8 12.4
10 lethal congenital contracture syndrome 9 12.4
11 lethal congenital contracture syndrome 10 12.4
12 lethal arthrogryposis with anterior horn cell disease 11.0
13 congenital contractures 10.4
14 leukoencephalopathy, brain calcifications, and cysts 10.0
15 leukoencephalopathy, cerebral calcifications, and cysts 10.0
16 anterior horn cell disease 9.8

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

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

25 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.73 GLE1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.73 PIP5K1C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.73 DNM2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.73 PIP5K1C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.73 DNM2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.73 DNM2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.73 DNM2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.73 GLE1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.73 DNM2 GLE1 PIP5K1C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.73 DNM2
11 Increased viability with SS1P at EC90 GR00376-A-1 8.62 ZBTB42 DNM2

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome

Genetic Tests for Lethal Congenital Contracture Syndrome

Anatomical Context for Lethal Congenital Contracture Syndrome

Publications for Lethal Congenital Contracture Syndrome

Articles related to Lethal Congenital Contracture Syndrome:

# Title Authors Year
1
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
2
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )
2012
3
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
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

Expression for Lethal Congenital Contracture Syndrome

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome.

Pathways for Lethal Congenital Contracture Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 DNM2 PIP5K1C
2 10.91 DNM2 PIP5K1C
3 10.27 DNM2 PIP5K1C

GO Terms for Lethal Congenital Contracture Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.33 DNM2 GLDN PIP5K1C
2 ruffle membrane GO:0032587 8.96 DNM2 PIP5K1C
3 phagocytic cup GO:0001891 8.62 DNM2 PIP5K1C

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

# Name GO ID Score Top Affiliating Genes
1 endocytosis GO:0006897 9.16 DNM2 PIP5K1C
2 membrane organization GO:0061024 8.96 DNM2 PIP5K1C
3 phagocytosis GO:0006909 8.62 DNM2 PIP5K1C

Sources for Lethal Congenital Contracture Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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31 HPO
32 ICD10
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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