MCID: LTH003
MIFTS: 27

Lethal Congenital Contracture Syndrome

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 12 76 53 6 15
Lethal Congenital Contracture Syndrome 1 73
Lccs 53

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 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 Fc gamma R-mediated phagocytosis and Arf6 trafficking events. Related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish... more...

Related Diseases for Lethal Congenital Contracture Syndrome

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.7 GLE1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.7 PIP5K1C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.7 PIP5K1C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.7 DNM2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.7 DNM2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.7 DNM2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.7 GLE1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.7 DNM2 GLE1 PIP5K1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.7 DNM2
10 Increased viability with SS1P at EC90 GR00376-A-1 8.62 DNM2 ZBTB42

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:

(show all 11)
# Title Authors Year
1
A homozygous TTN gene variant associated with lethal congenital contracture syndrome. ( 29575618 )
2018
2
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
3
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )
2012
4
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )
2012
5
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
6
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )
2006
7
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )
2004
8
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
9
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. ( 9125342 )
1996
10
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ( 7897624 )
1995
11
Lethal congenital contracture syndrome: further delineation and genetic aspects. ( 7966188 )
1994

Variations for Lethal Congenital Contracture Syndrome

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome:

6
(show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLE1 NM_001003722.1(GLE1): c.1641T> C (p.Tyr547=) single nucleotide variant Uncertain significance rs77053118 GRCh37 Chromosome 9, 131296225: 131296225
2 GLE1 NM_001003722.1(GLE1): c.1641T> C (p.Tyr547=) single nucleotide variant Uncertain significance rs77053118 GRCh38 Chromosome 9, 128533946: 128533946
3 GLE1 NM_001003722.1(GLE1): c.727A> G (p.Ile243Val) single nucleotide variant Benign rs2275260 GRCh37 Chromosome 9, 131285955: 131285955
4 GLE1 NM_001003722.1(GLE1): c.727A> G (p.Ile243Val) single nucleotide variant Benign rs2275260 GRCh38 Chromosome 9, 128523676: 128523676
5 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Uncertain significance rs146800850 GRCh37 Chromosome 9, 131286051: 131286051
6 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Uncertain significance rs146800850 GRCh38 Chromosome 9, 128523772: 128523772
7 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Likely benign rs138310419 GRCh38 Chromosome 9, 128525294: 128525294
8 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Likely benign rs138310419 GRCh37 Chromosome 9, 131287573: 131287573
9 GLE1 NM_001003722.1(GLE1): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs146025848 GRCh37 Chromosome 9, 131285907: 131285907
10 GLE1 NM_001003722.1(GLE1): c.679C> T (p.Arg227Cys) single nucleotide variant Uncertain significance rs146025848 GRCh38 Chromosome 9, 128523628: 128523628
11 GLE1 NM_001003722.1(GLE1): c.5C> G (p.Pro2Arg) single nucleotide variant Uncertain significance rs150246404 GRCh37 Chromosome 9, 131267089: 131267089
12 GLE1 NM_001003722.1(GLE1): c.5C> G (p.Pro2Arg) single nucleotide variant Uncertain significance rs150246404 GRCh38 Chromosome 9, 128504810: 128504810
13 GLE1 NM_001003722.1(GLE1): c.1393T> A (p.Ser465Thr) single nucleotide variant Uncertain significance rs141709685 GRCh37 Chromosome 9, 131295872: 131295872
14 GLE1 NM_001003722.1(GLE1): c.1393T> A (p.Ser465Thr) single nucleotide variant Uncertain significance rs141709685 GRCh38 Chromosome 9, 128533593: 128533593
15 GLE1 NM_001003722.1(GLE1): c.-51G> A single nucleotide variant Uncertain significance rs527886091 GRCh37 Chromosome 9, 131267034: 131267034
16 GLE1 NM_001003722.1(GLE1): c.-51G> A single nucleotide variant Uncertain significance rs527886091 GRCh38 Chromosome 9, 128504755: 128504755
17 GLE1 NM_001003722.1(GLE1): c.-45T> C single nucleotide variant Uncertain significance rs372008961 GRCh37 Chromosome 9, 131267040: 131267040
18 GLE1 NM_001003722.1(GLE1): c.-45T> C single nucleotide variant Uncertain significance rs372008961 GRCh38 Chromosome 9, 128504761: 128504761
19 GLE1 NM_001003722.1(GLE1): c.433-15A> C single nucleotide variant Uncertain significance rs752897261 GRCh37 Chromosome 9, 131284932: 131284932
20 GLE1 NM_001003722.1(GLE1): c.433-15A> C single nucleotide variant Uncertain significance rs752897261 GRCh38 Chromosome 9, 128522653: 128522653
21 GLE1 NM_001003722.1(GLE1): c.*387C> G single nucleotide variant Likely benign rs78624767 GRCh37 Chromosome 9, 131303836: 131303836
22 GLE1 NM_001003722.1(GLE1): c.*387C> G single nucleotide variant Likely benign rs78624767 GRCh38 Chromosome 9, 128541557: 128541557
23 GLE1 NM_001003722.1(GLE1): c.*390C> T single nucleotide variant Uncertain significance rs886063491 GRCh37 Chromosome 9, 131303839: 131303839
24 GLE1 NM_001003722.1(GLE1): c.*390C> T single nucleotide variant Uncertain significance rs886063491 GRCh38 Chromosome 9, 128541560: 128541560
25 GLE1 NM_001003722.1(GLE1): c.*933A> C single nucleotide variant Uncertain significance rs537244282 GRCh37 Chromosome 9, 131304382: 131304382
26 GLE1 NM_001003722.1(GLE1): c.*933A> C single nucleotide variant Uncertain significance rs537244282 GRCh38 Chromosome 9, 128542103: 128542103
27 GLE1 NM_001003722.1(GLE1): c.-108C> A single nucleotide variant Uncertain significance rs545478697 GRCh37 Chromosome 9, 131266977: 131266977
28 GLE1 NM_001003722.1(GLE1): c.-108C> A single nucleotide variant Uncertain significance rs545478697 GRCh38 Chromosome 9, 128504698: 128504698
29 GLE1 NM_001003722.1(GLE1): c.749C> T (p.Ala250Val) single nucleotide variant Uncertain significance rs886063489 GRCh37 Chromosome 9, 131285977: 131285977
30 GLE1 NM_001003722.1(GLE1): c.749C> T (p.Ala250Val) single nucleotide variant Uncertain significance rs886063489 GRCh38 Chromosome 9, 128523698: 128523698
31 GLE1 NM_001003722.1(GLE1): c.2028+15G> A single nucleotide variant Uncertain significance rs886063490 GRCh37 Chromosome 9, 131302632: 131302632
32 GLE1 NM_001003722.1(GLE1): c.2028+15G> A single nucleotide variant Uncertain significance rs886063490 GRCh38 Chromosome 9, 128540353: 128540353
33 GLE1 NM_001003722.1(GLE1): c.*640C> T single nucleotide variant Uncertain significance rs575049150 GRCh37 Chromosome 9, 131304089: 131304089
34 GLE1 NM_001003722.1(GLE1): c.*640C> T single nucleotide variant Uncertain significance rs575049150 GRCh38 Chromosome 9, 128541810: 128541810
35 GLE1 NM_001003722.1(GLE1): c.-81C> T single nucleotide variant Uncertain significance rs56214514 GRCh37 Chromosome 9, 131267004: 131267004
36 GLE1 NM_001003722.1(GLE1): c.-81C> T single nucleotide variant Uncertain significance rs56214514 GRCh38 Chromosome 9, 128504725: 128504725
37 GLE1 NM_001003722.1(GLE1): c.54C> G (p.Asp18Glu) single nucleotide variant Uncertain significance rs549769200 GRCh37 Chromosome 9, 131267138: 131267138
38 GLE1 NM_001003722.1(GLE1): c.54C> G (p.Asp18Glu) single nucleotide variant Uncertain significance rs549769200 GRCh38 Chromosome 9, 128504859: 128504859
39 GLE1 NM_001003722.1(GLE1): c.*111T> C single nucleotide variant Uncertain significance rs567740764 GRCh37 Chromosome 9, 131303560: 131303560
40 GLE1 NM_001003722.1(GLE1): c.*111T> C single nucleotide variant Uncertain significance rs567740764 GRCh38 Chromosome 9, 128541281: 128541281
41 GLE1 NM_001003722.1(GLE1): c.-84A> C single nucleotide variant Uncertain significance rs886063488 GRCh37 Chromosome 9, 131267001: 131267001
42 GLE1 NM_001003722.1(GLE1): c.-84A> C single nucleotide variant Uncertain significance rs886063488 GRCh38 Chromosome 9, 128504722: 128504722
43 GLE1 NM_001003722.1(GLE1): c.321+13T> G single nucleotide variant Uncertain significance rs752458769 GRCh37 Chromosome 9, 131271389: 131271389
44 GLE1 NM_001003722.1(GLE1): c.321+13T> G single nucleotide variant Uncertain significance rs752458769 GRCh38 Chromosome 9, 128509110: 128509110
45 GLE1 NM_001003722.1(GLE1): c.*73G> A single nucleotide variant Benign rs10760563 GRCh37 Chromosome 9, 131303522: 131303522
46 GLE1 NM_001003722.1(GLE1): c.*73G> A single nucleotide variant Benign rs10760563 GRCh38 Chromosome 9, 128541243: 128541243
47 GLE1 NM_001003722.1(GLE1): c.*181C> A single nucleotide variant Likely benign rs10513496 GRCh37 Chromosome 9, 131303630: 131303630
48 GLE1 NM_001003722.1(GLE1): c.*181C> A single nucleotide variant Likely benign rs10513496 GRCh38 Chromosome 9, 128541351: 128541351
49 GLE1 NM_001003722.1(GLE1): c.*540G> A single nucleotide variant Uncertain significance rs886063492 GRCh37 Chromosome 9, 131303989: 131303989
50 GLE1 NM_001003722.1(GLE1): c.*540G> A single nucleotide variant Uncertain significance rs886063492 GRCh38 Chromosome 9, 128541710: 128541710

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 10.91 DNM2 PIP5K1C
2 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 membrane organization GO:0061024 8.96 DNM2 PIP5K1C
2 phagocytosis GO:0006909 8.62 DNM2 PIP5K1C

Sources for Lethal Congenital Contracture Syndrome

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