LCCS
MCID: LTH003
MIFTS: 40

Lethal Congenital Contracture Syndrome (LCCS)

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

Aliases & Classifications for Lethal Congenital Contracture Syndrome

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 12 74 52 58 29 6 15
Lccs 52 58
Lethal Congenital Contracture Syndrome 1 71

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060558
ICD10 32 Q68.8
ICD10 via Orphanet 33 Q68.8
Orphanet 58 ORPHA294965
UMLS 71 C1854664

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 lccs, is related to lethal congenital contracture syndrome 2 and lethal congenital contracture syndrome 3. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1 RNA Export Mediator). The drugs Calcium carbonate and Antacids have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and cardiac myocytes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 74 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 50)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 2 34.8 PIP5K1C GLE1 ERBB3
2 lethal congenital contracture syndrome 3 34.7 PIP5K1C MYBPC1
3 lethal congenital contracture syndrome 4 34.7 MYBPC1 ADGRG6
4 lethal congenital contracture syndrome 8 34.6 TEX49 ADCY6
5 lethal congenital contracture syndrome 1 32.4 RAE1 NXF1 NUP155 IPPK GLE1 ERBB3
6 anterior horn cell disease 29.3 RAE1 NUP155 GLE1 DDX19B
7 lethal congenital contracture syndrome 11 12.9
8 lethal congenital contracture syndrome 6 12.9
9 lethal congenital contracture syndrome 5 12.8
10 lethal congenital contracture syndrome 7 12.8
11 lethal congenital contracture syndrome 9 12.7
12 lethal congenital contracture syndrome 10 12.7
13 leukoencephalopathy, brain calcifications, and cysts 12.0
14 cerebroretinal microangiopathy with calcifications and cysts 1 11.5
15 hepatocellular carcinoma 11.5
16 lung large cell carcinoma 11.4
17 congenital arthrogryposis with anterior horn cell disease 11.3
18 leukoencephalopathy, cerebral calcifications, and cysts 11.2
19 congenital contractures 10.4
20 alkuraya-kucinskas syndrome 10.4
21 congenital amyoplasia 10.4
22 distal arthrogryposis 10.3
23 hypomyelination neuropathy-arthrogryposis syndrome 10.3 CNTNAP1 ADCY6
24 autoimmune neuropathy 10.3 GLDN CNTNAP1
25 polyhydramnios 10.1 ZBTB42 GLDN CNTNAP1
26 autosomal recessive disease 10.1
27 lung cancer 10.1
28 ataxia and polyneuropathy, adult-onset 10.1
29 branchiootic syndrome 1 10.1
30 lung cancer susceptibility 3 10.1
31 squamous cell carcinoma 10.1
32 lung benign neoplasm 10.1
33 dystonia 10.1
34 compartment syndrome 10.1
35 intracranial hypertension 10.1
36 spasticity 10.1
37 myopathy, congenital 10.0 TTN MYBPC1 DNM2
38 arthrogryposis, distal, type 1a 10.0 MYBPC1 CNTNAP1 ADGRG6
39 charcot-marie-tooth disease and deafness 10.0 GLDN DNM2 CNTNAP1
40 hydrops fetalis, nonimmune 9.9
41 multiple pterygium syndrome, escobar variant 9.9
42 restrictive dermopathy, lethal 9.9
43 spinal muscular atrophy, x-linked 2 9.9
44 spinal muscular atrophy 9.9
45 myopathy 9.9
46 muscular atrophy 9.9
47 cerebro-oculo-facio-skeletal syndrome 9.9
48 erythrokeratoderma ''en cocardes'' 9.9
49 cardiomyopathy, familial hypertrophic, 4 9.8 TTN MYBPC1
50 charcot-marie-tooth disease 9.5 GLDN ERBB3 DNM2 CNTNAP1 ADGRG6

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 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.06 GLE1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.06 DNM2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.06 DNM2 ERBB3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 10.06 DNM2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-13 10.06 DNM2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-151 10.06 GLE1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.06 ERBB3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.06 PIP5K1C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-169 10.06 PIP5K1C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 10.06 ERBB3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.06 DNM2 ERBB3
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10.06 PIP5K1C
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.06 DNM2 ERBB3
14 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.65 ERBB3 NEK9 NRK PIP5K1C TTN
15 Increased viability GR00342-S-2 8.96 ERBB3
16 Increased viability GR00342-S-3 8.96 ERBB3
17 Nucleoplasmic pre-40S maturation defects GR00209-A-1 8.32 NUP155

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.8 ADGRG6 CNTNAP1 DNM2 ERBB3 GLDN GLE1
2 muscle MP:0005369 9.17 ADCY6 ADGRG6 CNTNAP1 DNM2 ERBB3 RAE1

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved, Investigational Phase 1 471-34-1
2 Antacids Phase 1
3 Anti-Ulcer Agents Phase 1
4 Gastrointestinal Agents Phase 1
5 Calcium Supplement Phase 1
6 Calcium, Dietary Phase 1
7
Calcium Nutraceutical Phase 1 7440-70-2 271
8
Menthol Approved 2216-51-5 16666
9 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Human Crossover Study to Compare the Bioavailability of Calcium From AlgaeCal® Versus a Proprietary Calcium Dietary Supplement Completed NCT01609413 Phase 1
2 Assessing Tobacco Product Choice When the Cost of Menthol Cigarettes Increases Recruiting NCT03612349
3 Addictive Potential of Little Cigars/Cigarillos in Dual Users: Effect by Flavor and Gender Suspended NCT03496077

Search NIH Clinical Center for Lethal Congenital Contracture Syndrome

Genetic Tests for Lethal Congenital Contracture Syndrome

Genetic tests related to Lethal Congenital Contracture Syndrome:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 29

Anatomical Context for Lethal Congenital Contracture Syndrome

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome:

40
Lung, Heart, Cardiac Myocytes, Colon, Bone, Liver, Smooth Muscle

Publications for Lethal Congenital Contracture Syndrome

Articles related to Lethal Congenital Contracture Syndrome:

(show top 50) (show all 287)
# Title Authors PMID Year
1
Validity of the Genourob arthrometer in the evaluation of total thickness tears of anterior cruciate ligament. 61
32425418 2020
2
Synchronous metastatic colon cancer and the importance of primary tumor laterality - A National Cancer Database analysis of right- versus left-sided colon cancer. 61
31864521 2020
3
Lignin Carbohydrate Complexes structure preserved throughout downstream processes for their valorization after recovery from industrial process water. 61
31805329 2020
4
Structural characterization and antioxidant activity of water-soluble lignin-carbohydrate complexes (LCCs) isolated from wheat straw. 61
32531357 2020
5
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. 61
32537934 2020
6
Age-Dependent Progression in Lung Pathophysiology can be Prevented by Restoring Fatty Acid and Ceramide Imbalance in Cystic Fibrosis. 61
32306138 2020
7
Impact of bagasse lignin-carbohydrate complexes structural changes on cellulase adsorption behavior. 61
32535209 2020
8
Treatment of Allergic Asthma with Fenretinide Formulation (LAU-7b) Downregulates ORMDL Sphingolipid Biosynthesis Regulator 3 (Ormdl3) Expression and Normalizes Ceramide Imbalance. 61
32273303 2020
9
Spatiotemporal scale and integrative methods matter for quantifying the driving forces of land cover change. 61
32535458 2020
10
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2020
11
Knockdown of Dinoflagellate Condensin CcSMC4 Subunit Leads to S-Phase Impediment and Decompaction of Liquid Crystalline Chromosomes. 61
32295294 2020
12
Responses of landscape structure to the ecological restoration programs in the farming-pastoral ecotone of Northern China. 61
31927287 2020
13
Longitudinal associations between marijuana and cigar use in young adults. 61
32251920 2020
14
Predominant regional biophysical cooling from recent land cover changes in Europe. 61
32103013 2020
15
Associations Between Screen Exposure in Early Life and Myopia amongst Chinese Preschoolers. 61
32046062 2020
16
Compartmentalized β1-Adrenergic Signaling Synchronizes Excitation-contraction Coupling Without Modulating Individual Ca2+ Sparks in Healthy and Hypertrophied Cardiomyocytes. 61
32031586 2020
17
Analysis of Land Cover Changes in Afromontane Vegetation of Image Forest Reserve, Southern Highlands of Tanzania. 61
32508539 2020
18
Influence of the tubular network on the characteristics of calcium transients in cardiac myocytes. 61
32302318 2020
19
Clinical validity of two different grading systems for lumbar central canal stenosis: Schizas and Lee classification systems. 61
32459814 2020
20
Remodeling Promotes Proarrhythmic Disruption of Calcium Homeostasis in Failing Atrial Myocytes. 61
31889516 2020
21
Neighborhood Disparities in the Availability, Advertising, Promotion, and Youth Appeal of Little Cigars and Cigarillos, United States, 2015. 61
31917833 2020
22
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. 61
32328110 2020
23
Molecular Pathway Analysis Indicates a Distinct Metabolic Phenotype in Women With Right-Sided Colon Cancer. 61
31760268 2020
24
Point-of-sale marketing of little cigars and cigarillos on and near California Tribal lands. 61
30385648 2020
25
The diagnostic utility of zinc E-box 1 (ZEB1) transcription factor for identification of pulmonary sarcomatoid carcinoma in cytologic and surgical specimens. 61
31677963 2020
26
Long non-coding RNA MEG3 regulates migration and invasion of lung cancer stem cells via miR-650/SLC34A2 axis. 61
31585300 2019
27
Purification of hemicellulose from sugarcane bagasse alkaline hydrolysate using an aromatic-selective adsorption resin. 61
31521307 2019
28
Three-dimensional versus two-dimensional high-definition laparoscopy in cholecystectomy: a prospective randomized controlled study. 61
30710315 2019
29
New insights on structure of lignin-carbohydrate complex from hot water pretreatment liquor. 61
31472842 2019
30
Analysis on the Live Coral Cover around Weizhou Island Using MODIS Data. 61
31590299 2019
31
Nativity of lignin carbohydrate bonds substantiated by biomimetic synthesis. 61
31294799 2019
32
Percutaneous Unilateral Biportal Endoscopic Spine Surgery Using a 30-Degree Arthroscope in Patients With Severe Lumbar Spinal Stenosis: A Technical Note. 61
31464695 2019
33
Preparation of nanocellulose and lignin-carbohydrate complex composite biological carriers and culture of heart coronary artery endothelial cells. 61
31295490 2019
34
Comparison of clinicopathological and survival features of right and left colon cancers. 61
31786846 2019
35
Dataset on structure-antioxidant activity relationship of active oxygen catalytic lignin and lignin-carbohydrate complex. 61
31516933 2019
36
Correlates of cigarette and alternative tobacco product use among young tobacco users experiencing homelessness. 61
30921625 2019
37
DNA Damage Response Pathways in Dinoflagellates. 61
31284474 2019
38
COSCEB: Comprehensive search for column-coherent evolution biclusters and its application to hub gene identification. 61
31180061 2019
39
Use of other combustible tobacco products among priority populations of smokers: Implications for U.S. tobacco regulatory policy. 61
30735829 2019
40
Disparities in retail marketing for little cigars and cigarillos in Los Angeles, California. 61
31193771 2019
41
Affect Predicts Small Cigar Use in a National Sample of US Young Adults. 61
31656828 2019
42
Spatial remodelling of calcium release units may impair cardiac electro-mechanical function: A simulation study. 61
31005798 2019
43
Enzyme kinetics of fungal glucuronoyl esterases on natural lignin-carbohydrate complexes. 61
30949809 2019
44
Expression and characterization of two glucuronoyl esterases from Thielavia terrestris and their application in enzymatic hydrolysis of corn bran. 61
30762074 2019
45
A Multi-Institutional Study to Evaluate Automated Whole Slide Scoring of Immunohistochemistry for Assessment of Programmed Death-Ligand 1 (PD-L1) Expression in Non-Small Cell Lung Cancer. 61
30640753 2019
46
Step-by-Step Sublaminar Approach With a Newly-Designed Spinal Endoscope for Unilateral-Approach Bilateral Decompression in Spinal Stenosis. 61
30943706 2019
47
Differences among cigarette-only smokers compared to dual users of cigarettes and little cigars/cigarillos in the criminal justice population. 61
30458372 2019
48
Evaluation of the most optimal multiparametric magnetic resonance imaging sequence for determining pathological length of capsular contact. 61
30777210 2019
49
Review of Airline-within-Airline strategy: Case studies of the Singapore Airlines Group and Qantas Group. 61
32501419 2019
50
Atomic Scale Imaging of Reversible Ring Cyclization in Graphene Nanoconstrictions. 61
30673212 2019

Variations for Lethal Congenital Contracture Syndrome

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLE1 NM_001499.2(GLE1):c.-51G>ASNV Uncertain significance 365129 rs527886091 9:131267034-131267034 9:128504755-128504755
2 GLE1 NM_001499.2(GLE1):c.-108C>ASNV Uncertain significance 365126 rs545478697 9:131266977-131266977 9:128504698-128504698
3 GLE1 NM_001499.2(GLE1):c.-81C>TSNV Uncertain significance 365128 rs56214514 9:131267004-131267004 9:128504725-128504725
4 GLE1 NM_001499.2(GLE1):c.-84A>CSNV Uncertain significance 365127 rs886063488 9:131267001-131267001 9:128504722-128504722
5 GLE1 NM_001003722.1(GLE1):c.*540G>ASNV Uncertain significance 365141 rs886063492 9:131303989-131303989 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

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 nuclear envelope GO:0005635 9.26 RAE1 NXF1 NUP155 GLE1
2 nuclear pore GO:0005643 9.02 RAE1 NXF1 NUP155 GLE1 DDX19B

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.8 TTN PIP5K1C NRK NEK9 IPPK ERBB3
2 neuron projection morphogenesis GO:0048812 9.61 NRK DNM2 CNTNAP1
3 RNA export from nucleus GO:0006405 9.54 RAE1 NXF1 NUP155
4 myelination in peripheral nervous system GO:0022011 9.46 CNTNAP1 ADGRG6
5 mRNA transport GO:0051028 9.46 NXF1 NUP155 GLE1 DDX19B
6 Schwann cell differentiation GO:0014037 9.4 ERBB3 ADGRG6
7 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.26 RAE1 NUP155
8 poly(A)+ mRNA export from nucleus GO:0016973 9.13 NXF1 GLE1 DDX19B
9 mRNA export from nucleus GO:0006406 9.02 RAE1 NXF1 NUP155 GLE1 DDX19B

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

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.63 TTN PIP5K1C NRK NEK9 IPPK ERBB3
2 ATP binding GO:0005524 9.56 TTN PIP5K1C NRK NEK9 IPPK ERBB3
3 nucleotide binding GO:0000166 9.28 TTN PIP5K1C NRK NEK9 IPPK ERBB3

Sources for Lethal Congenital Contracture Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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