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MCID: LTH003
MIFTS: 31

Lethal Congenital Contracture Syndrome

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Lethal Congenital Contracture Syndrome

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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 12 77 54 6 15
Lethal Congenital Contracture Syndrome 1 74
Lccs 54

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Respiratory diseases Neuronal diseases Bone diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 34


External Ids:

Disease Ontology 12 DOID:0060558
ICD10 34 Q68.8
UMLS 74 C1854664
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Summaries for Lethal Congenital Contracture Syndrome

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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 3 and lethal congenital contracture syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways is AKT Signaling Pathway. The drugs Gliclazide and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and bone, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 77 Lethal congenital contracture syndrome 1 (LCCS1), also called Multiple contracture syndrome, Finnish... more...

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Related Diseases for Lethal Congenital Contracture Syndrome

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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 24)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 3 33.7 MYBPC1 PIP5K1C
2 lethal congenital contracture syndrome 2 33.4 ERBB3 GLE1 PIP5K1C
3 lethal congenital contracture syndrome 1 33.3 ERBB3 GLE1 PIP5K1C
4 lethal congenital contracture syndrome 4 12.8
5 lethal congenital contracture syndrome 11 12.8
6 lethal congenital contracture syndrome 6 12.7
7 lethal congenital contracture syndrome 5 12.7
8 lethal congenital contracture syndrome 7 12.6
9 lethal congenital contracture syndrome 8 12.6
10 lethal congenital contracture syndrome 9 12.6
11 lethal congenital contracture syndrome 10 12.6
12 leukoencephalopathy, brain calcifications, and cysts 12.0
13 leukoencephalopathy, cerebral calcifications, and cysts 11.5
14 hepatocellular carcinoma 11.3
15 lung large cell carcinoma 11.3
16 congenital arthrogryposis with anterior horn cell disease 11.2
17 cerebroretinal microangiopathy with calcifications and cysts 1 11.1
18 congenital contractures 10.4
19 leber congenital amaurosis 10.2
20 lung cancer 10.0
21 spinal muscular atrophy 10.0
22 anterior horn cell disease 10.0
23 proximal spinal muscular atrophy 10.0
24 neurogenic bladder 9.4 ERBB3 PIP5K1C

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



Diseases related to Lethal Congenital Contracture Syndrome
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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:

27 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.61 GLE1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.61 PIP5K1C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.61 PIP5K1C
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.61 ERBB3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 9.61 GLE1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.61 ERBB3 GLE1 PIP5K1C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.61 ERBB3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.58 PIP5K1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.58 ERBB3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.58 ERBB3
11 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.58 PIP5K1C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.58 GLE1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.58 ERBB3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.58 PIP5K1C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.58 PIP5K1C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.58 GLE1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.58 PIP5K1C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.58 ERBB3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.58 GLE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.58 PIP5K1C
21 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.58 PIP5K1C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.58 PIP5K1C
23 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.58 ERBB3 GLE1 PIP5K1C
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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome

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Drugs for Lethal Congenital Contracture Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gliclazide Approved 21187-98-4 3475
2
Perindopril Approved 107133-36-8, 82834-16-0 107807
3
Indapamide Approved 26807-65-8 3702
4 Antihypertensive Agents
5 Hypoglycemic Agents
6 Indapamide, perindopril drug combination

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Action in Diabetes and Vascular Disease Preterax and Diamicron MR Controlled Evaluation Post Trial Observational Study Completed NCT00949286
2 Study of Families With Melanoma Recruiting NCT00445783
3 Surefire Catheter Versus Standard End-hole Microcatheter: A Pilot Study Suspended NCT02446925 Not Applicable

Search 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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MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome:

42
Lung, Brain, Bone
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Publications for Lethal Congenital Contracture Syndrome

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Articles related to Lethal Congenital Contracture Syndrome:

# Title Authors Year
1
A homozygous TTN gene variant associated with lethal congenital contracture syndrome. ( 29575618 )
2018
2
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). ( 28726266 )
2017
3
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6). ( 25055871 )
2014
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 contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ( 16892327 )
2006
6
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
7
Myosin heavy chain expression in muscles of two cases of lethal congenital contracture syndrome. ( 9125342 )
1996
8
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ( 7897624 )
1995
9
Lethal congenital contracture syndrome: further delineation and genetic aspects. ( 7966188 )
1994
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Variations for Lethal Congenital Contracture Syndrome

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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 Conflicting interpretations of pathogenicity rs146800850 GRCh37 Chromosome 9, 131286051: 131286051
6 GLE1 NM_001003722.1(GLE1): c.823G> A (p.Asp275Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs146800850 GRCh38 Chromosome 9, 128523772: 128523772
7 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Benign/Likely benign rs138310419 GRCh38 Chromosome 9, 128525294: 128525294
8 GLE1 NM_001003722.1(GLE1): c.1000G> A (p.Glu334Lys) single nucleotide variant Benign/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

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

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

# Super pathways Score Top Affiliating Genes
1
AKT Signaling Pathway 68
10.78 ERBB3 PIP5K1C
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GO Terms for Lethal Congenital Contracture Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 8.32 PIP5K1C
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Sources for Lethal Congenital Contracture Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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