LCCS
MCID: LTH003
MIFTS: 23

Lethal Congenital Contracture Syndrome (LCCS) malady

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome

Aliases & Descriptions for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 12 50 14
Lethal Congenital Contracture Syndrome 1 69
Lccs 50

Classifications:



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Disease Ontology 12 DOID:0060558
ICD10 33 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 1 and lethal congenital contractural syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1, RNA Export Mediator). Related phenotype is 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

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 Lethal Congenital Contracture Syndrome 11

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

(show all 20)
id Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 1 12.5
2 lethal congenital contractural syndrome 2 12.4
3 lethal congenital contractural syndrome 3 12.4
4 lethal congenital contracture syndrome 4 12.4
5 lethal congenital contracture syndrome 11 12.4
6 lethal congenital contracture syndrome 8 12.3
7 lethal congenital contracture syndrome 7 12.3
8 lethal congenital contracture syndrome 6 12.3
9 lethal congenital contracture syndrome 5 12.3
10 lethal congenital contracture syndrome 9 12.3
11 lung large cell carcinoma 11.0
12 arthrogryposis, lethal, with anterior horn cell disease 10.9
13 hepatocellular carcinoma 10.8
14 congenital contractures 10.3
15 atrioventricular septal defect 10.0 ADGRG6 ZBTB42
16 keratoconus 6 9.9 GLE1 PIP5K1C
17 carney complex variant 9.8 ADGRG6 ZBTB42
18 anterior horn cell disease 9.8
19 muscular dystrophy, congenital, due to itga7 deficiency 9.6 ERBB3 GLE1 PIP5K1C
20 spinal disease 9.2 ADGRG6 ERBB3 GLE1 PIP5K1C ZBTB42

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:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.65 GLE1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.65 PIP5K1C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.65 ERBB3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.65 PIP5K1C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.65 ERBB3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.65 GLE1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.65 ERBB3 GLE1 PIP5K1C
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.65 ERBB3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.55 PIP5K1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.55 ERBB3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.55 PIP5K1C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.55 GLE1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.55 ERBB3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.55 PIP5K1C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.55 PIP5K1C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.55 GLE1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.55 PIP5K1C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.55 ERBB3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.55 GLE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.55 PIP5K1C
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.55 PIP5K1C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.55 PIP5K1C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.55 GLE1 PIP5K1C ERBB3

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:

id Title Authors Year
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

Expression for Lethal Congenital Contracture Syndrome

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

Pathways for Lethal Congenital Contracture Syndrome

GO Terms for Lethal Congenital Contracture Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.16 ERBB3 PIP5K1C
2 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 8.96 ERBB3 PIP5K1C
3 Schwann cell differentiation GO:0014037 8.62 ADGRG6 ERBB3

Sources for Lethal Congenital Contracture Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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48 NDF-RT
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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