Lethal Congenital Contracture Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LTH003 MIFTS: 27	Lethal Congenital Contracture Syndrome Categories: Rare diseases, Genetic diseases, Respiratory diseases, Fetal diseases, Neuronal diseases, Bone diseases
Genes Variations Related diseases Publications Pathways Download Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Respiratory diseases Neuronal diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital musculoskeletal deformities

Other specified congenital musculoskeletal deformities

External Ids:

Disease Ontology ¹² DOID:0060558

ICD10 ³³ Q68.8

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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...

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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 14)

#	Related Disease	Score	Top Affiliating Genes
1	lethal congenital contracture syndrome 2	33.4	GLE1 PIP5K1C
2	lethal congenital contracture syndrome 1	33.0	GLE1 PIP5K1C
3	lethal congenital contracture syndrome 3	32.6	MYBPC1 PIP5K1C
4	lethal congenital contracture syndrome 4	12.5
5	lethal congenital contracture syndrome 11	12.5
6	lethal congenital contracture syndrome 5	12.5
7	lethal congenital contracture syndrome 7	12.4
8	lethal congenital contracture syndrome 8	12.4
9	lethal congenital contracture syndrome 6	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	anterior horn cell disease	9.8

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome:

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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

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome

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

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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

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 )	Chervinsky E....Shalev S.	2018
2	ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )	Patel N....Alkuraya F.S.	2014
3	Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ( 22610851 )	Markus B....Birk O.S.	2012
4	A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ( 22357925 )	Jao L.E....Wente S.R.	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 )	Narkis G....Birk O.S.	2007
6	Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )	PakkasjAorvi N....Ignatius J.	2006
7	Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13. ( 15378541 )	Narkis G....Birk O.S.	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 )	MAokelAo-Bengs P....Peltonen L.	1998
9	Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. ( 9125342 )	Vuopala K....Thornell L.E.	1996
10	Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ( 7897624 )	Vuopala K....Peltonen L.	1995
11	Lethal congenital contracture syndrome: further delineation and genetic aspects. ( 7966188 )	Vuopala K....Herva R.	1994

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Genes for Lethal Congenital Contracture Syndrome

Genes related to Lethal Congenital Contracture Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GLE1	GLE1, RNA Export Mediator	Protein Coding	59.23	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)
2	ZBTB42	Zinc Finger And BTB Domain Containing 42	Protein Coding	56.25	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	GLDN	Gliomedin	Protein Coding	55.15	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	36.39	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
5	MYBPC1	Myosin Binding Protein C, Slow Type	Protein Coding	34.33	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
6	DNM2	Dynamin 2	Protein Coding	32.92	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)

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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

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Expression for Lethal Congenital Contracture Syndrome

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

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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	Fc gamma R-mediated phagocytosis ³⁷	10.91	DNM2 PIP5K1C
2	Arf6 trafficking events ¹	10.27	DNM2 PIP5K1C

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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

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Sources for Lethal Congenital Contracture Syndrome

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