LCCS
MCID: LTH003
MIFTS: 41

Lethal Congenital Contracture Syndrome (LCCS)

Categories: Bone diseases, Fetal diseases, Genetic 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 20 58 29 6 15
Lccs 20 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 8 and lethal congenital contracture syndrome 3. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways are RNA transport and mRNA surveillance pathway. The drugs Sodium citrate and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include heart, colon 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 25)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 8 32.9 TEX49 ADCY6
2 lethal congenital contracture syndrome 3 32.9 PIP5K1C MYBPC1
3 lethal congenital contracture syndrome 4 32.8 MYBPC1 ADGRG6
4 lethal congenital contracture syndrome 2 32.7 SON PIP5K1C GLE1 ERBB3
5 lethal congenital contracture syndrome 1 30.8 SON RAE1 NXF1 NUP155 IPPK GLE1
6 distal arthrogryposis 30.1 TTN MYBPC1 GLE1 GLDN CNTNAP1 ADGRG6
7 anterior horn cell disease 29.2 SON RAE1 NUP155 GLE1 DDX19B
8 lethal congenital contracture syndrome 11 11.9
9 lethal congenital contracture syndrome 7 11.8
10 lethal congenital contracture syndrome 5 11.8
11 lethal congenital contracture syndrome 6 11.8
12 lethal congenital contracture syndrome 9 11.8
13 lethal congenital contracture syndrome 10 11.8
14 congenital arthrogryposis with anterior horn cell disease 11.2
15 congenital contractures 10.5
16 congenital amyoplasia 10.4
17 hypomyelination neuropathy-arthrogryposis syndrome 10.2 CNTNAP1 ADCY6
18 myopathy 10.2
19 autoimmune neuropathy 10.1 GLDN CNTNAP1
20 polyhydramnios 10.0 ZBTB42 GLDN CNTNAP1
21 hydrops fetalis, nonimmune 10.0
22 spinal muscular atrophy, x-linked 2 10.0
23 autosomal recessive disease 10.0
24 spinal muscular atrophy 10.0
25 muscular atrophy 10.0

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 18)
# 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 9.62 ERBB3 NEK9 PIP5K1C TTN
15 Decreased influenza A H1N1 (A/WSN/33) virus numbers GR00195-A-2 9.43 NEK9 NXF1 SON
16 Increased viability GR00342-S-2 8.96 ERBB3
17 Increased viability GR00342-S-3 8.96 ERBB3
18 Increased viability with SS1P at EC90 GR00376-A-1 8.8 DNM2 SON ZBTB42

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.77 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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational 68-04-2
2
Letrozole Approved, Investigational 112809-51-5 3902
3
Acyclovir Approved 59277-89-3 2022
4
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
5
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
6
Enclomiphene Investigational 15690-57-0
7 Hormone Antagonists
8 Estrogen Receptor Antagonists
9 Estrogens
10 Hormones
11 Aromatase Inhibitors
12 Citrate
13 Clomiphene
14 Estrogen Antagonists
15 Zuclomiphene
16 Anti-Infective Agents
17 Antiviral Agents
18 Anesthetics
19 Anesthetics, General
20 Diphosphonates

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 LCC-CARIS-01: A Pilot Feasibility Study to Assess the Use of Molecular Profiling to Determine Choice of Treatment for Patients With Gynecological Cancer Unknown status NCT02668913 Phase 1, Phase 2
2 Addictive Potential of Little Cigars/Cigarillos in Dual Users: Effect by Flavor and Gender Completed NCT03496077
3 Coats Plus Syndrome and LCC Syndrome: Series of 10 Pediatric Cases. Review of Literature and Natural History Completed NCT04089995
4 Letrozole and CC Alone in an IUI Program in Women With Surgically Treated Minimal to Mild Endometriosis Completed NCT01334762 Letrozole/IUI;CC/IUI
5 An Exploratory Study to Evaluate Dermal Open Flow Microperfusion's (dOFM) Ability to Assess Bioequivalence and Non-bioequivalence of Topical Acyclovir Formulations in Healthy Volunteers Completed NCT02711267 5% Zovirax® cream;5% Aciclostad cream;5% Aciclovir cream 1A Pharma;5% Zovirax Cold Sore Cream;5% Zovirax® cream (Austria)
6 Investigating the Effects of Evening Light Exposure on Melatonin Suppression, Alertness and Nocturnal Sleep. Completed NCT01586039
7 A Randomized Controlled, Evaluator-blinded, Multi-center Trial Investigating Telerehabilitation as an add-on to Face-to-face Speech and Language Therapy in Post-stroke Aphasia. Recruiting NCT03228264
8 Long-term Tablet-computer Based Casual Puzzle Video Game Intervention in Healthy Older and Cognitively Impaired Persons Enrolling by invitation NCT03139799
9 Multiple Myeloma Spinal Disease Study; A Multi-centre, Prospective, Single Blinded, Randomized, Controlled Study to Compare Conservative Management Alone Vs. Balloon Kyphoplasty With the Treatment of VCFs in Patients With Multiple Myeloma Terminated NCT02732925

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
Heart, Colon, Cardiac Myocytes, Lung, Liver, Smooth Muscle, Lymph Node

Publications for Lethal Congenital Contracture Syndrome

Articles related to Lethal Congenital Contracture Syndrome:

(show top 50) (show all 302)
# Title Authors PMID Year
1
Exposure to cigar Point-of-Sale marketing and use of cigars and cigarettes among young adults. 61
33482429 2021
2
The coordinated action of glucuronoyl esterase and α-glucuronidase promotes the disassembly of lignin-carbohydrate complexes. 61
33277689 2021
3
The impact of menthol flavoring in combusted tobacco on alternative product purchasing: A pilot study using the Experimental Tobacco Marketplace. 61
33213974 2021
4
LncRNA CBR3-AS1 potentiates Wnt/β-catenin signaling to regulate lung adenocarcinoma cells proliferation, migration and invasion. 61
33422081 2021
5
Neighborhood Disparities in the Availability, Advertising, Promotion, and Youth Appeal of Little Cigars and Cigarillos, United States, 2015. 61
31917833 2020
6
Does the Surgeon's Caseload Affect the Outcome in Laparoscopic Cholecystectomy for Acute Cholecystitis? 61
32658122 2020
7
The function of medial temporal lobe and posterior middle temporal gyrus in forming creative associations. 61
32830903 2020
8
Top-down lignomics analysis of the French pine lignin by atmospheric pressure photoionization quadrupole time-of-flight tandem mass spectrometry: Identification of a novel series of lignin-carbohydrate complexes. 61
32761650 2020
9
Analyzing COVID-19 virus based on enhanced fragmented biological Local Aligner using improved Ions Motion Optimization algorithm. 61
32901204 2020
10
Impact of bagasse lignin-carbohydrate complexes structural changes on cellulase adsorption behavior. 61
32535209 2020
11
Validity of the Genourob arthrometer in the evaluation of total thickness tears of anterior cruciate ligament. 61
32425418 2020
12
Compartmentalized β1-adrenergic signalling synchronizes excitation-contraction coupling without modulating individual Ca2+ sparks in healthy and hypertrophied cardiomyocytes. 61
32031586 2020
13
Arctic Clouds and Precipitation in the Community Earth System Model Version 2. 61
33381360 2020
14
A CNTNAP1 Missense Variant Is Associated with Canine Laryngeal Paralysis and Polyneuropathy. 61
33261176 2020
15
Loose combined cutting seton for patients with high intersphincteric fistula: a retrospective study. 61
33178768 2020
16
Reinterpreting the role of primary and secondary airports in low-cost carrier expansion in Europe. 61
32863620 2020
17
Spatiotemporal scale and integrative methods matter for quantifying the driving forces of land cover change. 61
32535458 2020
18
Structural characterization and antioxidant activity of water-soluble lignin-carbohydrate complexes (LCCs) isolated from wheat straw. 61
32531357 2020
19
Anharmonicity and Universal Response of Linear Carbon Chain Mechanical Properties under Hydrostatic Pressure. 61
32955330 2020
20
Lignin Carbohydrate Complexes structure preserved throughout downstream processes for their valorization after recovery from industrial process water. 61
31805329 2020
21
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. 61
32537934 2020
22
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
23
Age-Dependent Progression in Lung Pathophysiology can be Prevented by Restoring Fatty Acid and Ceramide Imbalance in Cystic Fibrosis. 61
32306138 2020
24
Treatment of Allergic Asthma with Fenretinide Formulation (LAU-7b) Downregulates ORMDL Sphingolipid Biosynthesis Regulator 3 (Ormdl3) Expression and Normalizes Ceramide Imbalance. 61
32273303 2020
25
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6. 61
31846058 2020
26
Knockdown of Dinoflagellate Condensin CcSMC4 Subunit Leads to S-Phase Impediment and Decompaction of Liquid Crystalline Chromosomes. 61
32295294 2020
27
Age Verification and Online Sales of Little Cigars and Cigarillos to Minors. 61
32789154 2020
28
Longitudinal associations between marijuana and cigar use in young adults. 61
32251920 2020
29
Responses of landscape structure to the ecological restoration programs in the farming-pastoral ecotone of Northern China. 61
31927287 2020
30
Predominant regional biophysical cooling from recent land cover changes in Europe. 61
32103013 2020
31
Associations Between Screen Exposure in Early Life and Myopia amongst Chinese Preschoolers. 61
32046062 2020
32
Analysis of Land Cover Changes in Afromontane Vegetation of Image Forest Reserve, Southern Highlands of Tanzania. 61
32508539 2020
33
Influence of the tubular network on the characteristics of calcium transients in cardiac myocytes. 61
32302318 2020
34
Clinical validity of two different grading systems for lumbar central canal stenosis: Schizas and Lee classification systems. 61
32459814 2020
35
Molecular Pathway Analysis Indicates a Distinct Metabolic Phenotype in Women With Right-Sided Colon Cancer. 61
31760268 2020
36
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review. 61
32328110 2020
37
Point-of-sale marketing of little cigars and cigarillos on and near California Tribal lands. 61
30385648 2020
38
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
39
Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview. 61
32670090 2020
40
Remodeling Promotes Proarrhythmic Disruption of Calcium Homeostasis in Failing Atrial Myocytes. 61
31889516 2020
41
Long non-coding RNA MEG3 regulates migration and invasion of lung cancer stem cells via miR-650/SLC34A2 axis. 61
31585300 2019
42
Purification of hemicellulose from sugarcane bagasse alkaline hydrolysate using an aromatic-selective adsorption resin. 61
31521307 2019
43
New insights on structure of lignin-carbohydrate complex from hot water pretreatment liquor. 61
31472842 2019
44
Three-dimensional versus two-dimensional high-definition laparoscopy in cholecystectomy: a prospective randomized controlled study. 61
30710315 2019
45
Analysis on the Live Coral Cover around Weizhou Island Using MODIS Data. 61
31590299 2019
46
Percutaneous Unilateral Biportal Endoscopic Spine Surgery Using a 30-Degree Arthroscope in Patients With Severe Lumbar Spinal Stenosis: A Technical Note. 61
31464695 2019
47
Nativity of lignin carbohydrate bonds substantiated by biomimetic synthesis. 61
31294799 2019
48
Preparation of nanocellulose and lignin-carbohydrate complex composite biological carriers and culture of heart coronary artery endothelial cells. 61
31295490 2019
49
Comparison of clinicopathological and survival features of right and left colon cancers. 61
31786846 2019
50
Dataset on structure-antioxidant activity relationship of active oxygen catalytic lignin and lignin-carbohydrate complex. 61
31516933 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_001003722.1(GLE1):c.*540G>A SNV 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

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

# Super pathways Score Top Affiliating Genes
1 11.29 RAE1 NXF1 NUP155 GLE1 DDX19B
2 11.12 NXF1 GLE1 DDX19B

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 9.35 RAE1 NXF1 NUP155 GLE1 DDX19B
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 9.83 TTN PIP5K1C NEK9 IPPK ERBB3
2 mRNA transport GO:0051028 9.54 NXF1 NUP155 GLE1
3 RNA export from nucleus GO:0006405 9.43 RAE1 NXF1 NUP155
4 myelination in peripheral nervous system GO:0022011 9.4 CNTNAP1 ADGRG6
5 Schwann cell differentiation GO:0014037 9.32 ERBB3 ADGRG6
6 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.16 RAE1 NUP155
7 poly(A)+ mRNA export from nucleus GO:0016973 9.13 NXF1 GLE1 DDX19B
8 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 9.55 TTN PIP5K1C NEK9 IPPK ERBB3
2 ATP binding GO:0005524 9.5 TTN PIP5K1C NEK9 IPPK ERBB3 DDX19B
3 nucleotide binding GO:0000166 9.23 TTN PIP5K1C NEK9 IPPK ERBB3 DNM2

Sources for Lethal Congenital Contracture Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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