LCCS
MCID: LTH003
MIFTS: 39

Lethal Congenital Contracture Syndrome (LCCS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Lethal Congenital Contracture Syndrome

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome:

Name: Lethal Congenital Contracture Syndrome 11 19 58 75 28 5 14
Lccs 19 58
Lethal Congenital Contracture Syndrome 1 71

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060558
ICD10 31 Q68.8
ICD10 via Orphanet 32 Q68.8
Orphanet 58 ORPHA294965
UMLS 71 C1854664

Summaries for Lethal Congenital Contracture Syndrome

GARD: 19 A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.

MalaCards based summary: Lethal Congenital Contracture Syndrome, also known as lccs, is related to lethal congenital contracture syndrome 3 and lethal congenital contracture syndrome 4. An important gene associated with Lethal Congenital Contracture Syndrome is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and HCMV Infection. Affiliated tissues include skeletal muscle, cardiac myocytes and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Nuclear 60S biogenesis defects

Orphanet: 58 A group of rare arthrogryposis syndromes characterized by fetal akinesia, multiple congenital contractures, anterior horn cell degeneration, skeletal muscle atrophy, and other features, depending on the subtype. All types are lethal in the fetal or neonatal period.

Disease Ontology: 11 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.

Wikipedia: 75 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 37)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 3 33.2 PIP5K1C MYBPC1
2 lethal congenital contracture syndrome 4 32.9 MYBPC1 ADGRG6
3 lethal congenital contracture syndrome 2 32.5 ZBTB42 PIP5K1C NEK9 MYBPC1 GLE1 GLDN
4 lethal congenital contracture syndrome 1 31.0 ZBTB42 RAE1 PIP5K1C NXT1 NXF1 NUP88
5 polyhydramnios 30.3 ZBTB42 NUP88 GLDN CNTNAP1
6 distal arthrogryposis 30.2 ZBTB42 PIP5K1C MYBPC1 GLE1 GLDN DNM2
7 anterior horn cell disease 28.8 RAE1 NXT1 NXF1 NUP88 NUP42 NUP155
8 lethal congenital contracture syndrome 11 11.9
9 lethal congenital contracture syndrome 7 11.8
10 lethal congenital contracture syndrome 8 11.8
11 lethal congenital contracture syndrome 6 11.8
12 lethal congenital contracture syndrome 9 11.8
13 lethal congenital contracture syndrome 5 11.8
14 lethal congenital contracture syndrome 10 11.7
15 congenital arthrogryposis with anterior horn cell disease 11.2
16 congenital contractures 10.6
17 arthrogryposis, distal, type 1a 10.3
18 hypomyelination neuropathy-arthrogryposis syndrome 10.2 CNTNAP1 ADCY6
19 hydrops fetalis, nonimmune 10.2
20 myopathy 10.2
21 arthrogryposis, distal, type 10 10.2 ZBTB42 MYBPC1 GLE1
22 polyradiculopathy 10.2 GLDN CNTNAP1
23 arthrogryposis, distal, type 7 10.2 ZBTB42 MYBPC1 GLE1
24 myasthenic syndrome, congenital, 4b, fast-channel 10.2 MYBPC1 GLE1
25 autoimmune neuropathy 10.1 GLDN CNTNAP1
26 demyelinating polyneuropathy 10.1 GLDN CNTNAP1 ADGRG6
27 cranioectodermal dysplasia 4 10.0 NUP88 GLE1
28 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.0
29 ceroid lipofuscinosis, neuronal, 5 10.0
30 ataxia with vitamin e deficiency 10.0
31 spinal muscular atrophy 10.0
32 motor neuron disease 10.0
33 muscular atrophy 10.0
34 chronic inflammatory demyelinating polyradiculoneuropathy 10.0 GLDN CNTNAP1
35 multiple pterygium syndrome, escobar variant 9.9 PIP5K1C MYBPC1 GLDN ERCC6
36 fetal akinesia deformation sequence 1 9.9 NUP88 GLE1 GLDN CNTNAP1
37 arthrogryposis, distal, type 5 9.8 ZBTB42 PIP5K1C MYBPC1 GLE1 GLDN CNTNAP1

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:

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 ADCY6 ADGRG6 CNTNAP1 DDX19B DNM2 ERBB3
2 no effect GR00402-S-2 10.11 ADCY6 ADGRG6 DNM2 ERBB3 ERCC6 GLDN
3 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.98 PIP5K1C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.98 PIP5K1C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.98 ERBB3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.98 PIP5K1C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.98 PIP5K1C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.98 DNM2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.98 DNM2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.98 GLE1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-188 9.98 PIP5K1C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.98 DNM2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-31 9.98 GLE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.98 GLE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.98 PIP5K1C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.98 GLE1 PIP5K1C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.98 ERBB3
18 Increased shRNA abundance (Z-score > 2) GR00366-A-69 9.98 PIP5K1C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-84 9.98 DNM2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.98 ERBB3 GLE1 PIP5K1C
21 Nuclear 60S biogenesis defects GR00209-A-3 9.33 GLE1 NUP88 RAE1
22 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.26 NUP155 NUP88

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.77 ADGRG6 CNTNAP1 DDX19B DNM2 ERBB3 ERCC6
2 muscle MP:0005369 9.76 ADCY6 ADGRG6 CNTNAP1 DNM2 ERBB3 ERCC6
3 mortality/aging MP:0010768 9.5 ADGRG6 CNTNAP1 DDX19B DNM2 ERBB3 ERCC6

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

Genetic tests related to Lethal Congenital Contracture Syndrome:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 28

Anatomical Context for Lethal Congenital Contracture Syndrome

Organs/tissues related to Lethal Congenital Contracture Syndrome:

MalaCards : Skeletal Muscle, Cardiac Myocytes, Lung, Colon, Smooth Muscle, Heart, Lymph Node

Publications for Lethal Congenital Contracture Syndrome

Articles related to Lethal Congenital Contracture Syndrome:

(show top 50) (show all 368)
# Title Authors PMID Year
1
Using an experimental tobacco marketplace to pilot test the substitutability of JUUL e-cigarettes and other alternative nicotine and tobacco products for conventional cigarettes among vulnerable populations. 62
35787842 2022
2
Epidemiology of tick-borne pathogens of cattle and tick control practices in coastal Kenya. 62
36272258 2022
3
Application, planning, and techno-economic analysis of the multi-renewable energy complementary system in rural economic development zones: an empirical study in China. 62
36454529 2022
4
Structural evolution of lignin after selective oxidation of lignin-carbohydrate complex by chlorine dioxide. 62
36347375 2022
5
Tobacco Whack-A-Mole: A Consumption Taxonomy of Cigar & Other Combustible Tobacco Products among a Nationally Representative Sample of Young Adults. 62
36429968 2022
6
Themes in TikTok Videos Featuring Little Cigars and Cigarillos: Content Analysis. 62
36383406 2022
7
Respiratory and cardiometabolic comorbidities and Stage I-III non-small cell lung cancer (NSCLC) survival: A pooled analysis from the International Lung Cancer Consortium (ILCCO). 62
36396063 2022
8
Seismic design of setback irregular steel structures based on life cycle cost. 62
36202984 2022
9
Recovery of Chinese low-cost carriers after the outbreak of COVID-19 pandemic. 62
35975184 2022
10
Single-use, co-use, and polysubstance use of alcohol, tobacco, and cannabis in sexual minority and heterosexual females. 62
36250728 2022
11
Lignin-carbohydrate complexes suppress SCA3 neurodegeneration via upregulating proteasomal activities. 62
35872311 2022
12
A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. 62
36210633 2022
13
Steam explosion of Aucoumea klaineana sapwood: Membrane separation of acetylated hemicelluloses. 62
35728390 2022
14
Correction: Condorelli et al. Nano-Hybrid [email protected] Systems Displaying Anti-Inflammatory Activity. Materials 2022, 15, 3701. 62
36079564 2022
15
Origins of covalent linkages within the lignin-carbohydrate network of biomass. 62
35993292 2022
16
The Impact of Low-Carbon City (LCC) on Elderly People's Health: Evidence from a Natural Experiment in China. 62
35954783 2022
17
The Critical View of Safety in Laparoscopic Cholecystectomy: User Trends Among Residents and Consultants. 62
35881992 2022
18
Validity of a little cigars/cigarillos purchase task in dual users of cigars and cigarettes. 62
35255241 2022
19
Changes in Little Cigar and Cigarillo Use during the COVID-19 Pandemic: A Cross-Sectional Analysis of a Nationally Representative Sample of Young Adult Users. 62
35897303 2022
20
Direct Conversion of Human Endothelial Cells Into Liver Cancer-Forming Cells Using Nonintegrative Episomal Vectors. 62
35220676 2022
21
Identification and quantification of immune infiltration landscape on therapy and prognosis in left- and right-sided colon cancer. 62
34657172 2022
22
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review. 62
35806855 2022
23
Nano-Hybrid [email protected] Systems Displaying Anti-Inflammatory Activity. 62
35629727 2022
24
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. 62
35740734 2022
25
Life-Cycle Cost Analysis of Long-Span CFRP Cable-Stayed Bridges. 62
35566910 2022
26
Lignin-carbohydrate complexes, their fractionation, and application to healthcare materials: A review. 62
35093431 2022
27
L-type Ca2+ channel recovery from inactivation in rabbit atrial myocytes. 62
35274829 2022
28
A biological sub-sequences detection using integrated BA-PSO based on infection propagation mechanism: Case study COVID-19. 62
34690450 2022
29
[Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7]. 62
35076918 2022
30
Pulmonary large cell carcinoma with neuroendocrine morphology shows genetic similarity to large cell neuroendocrine carcinoma. 62
35144629 2022
31
Chlorine dioxide oxidation of hemicellulose from alkaline hydrolysate bagasse to remove lignin unit in lignin-carbohydrate complex. 62
34893234 2022
32
Cigar Harm Beliefs and Associations with Cigar Use among Young Adults. 62
35786154 2022
33
Identification and Validation in a Novel Quantification System of Ferroptosis Patterns for the Prediction of Prognosis and Immunotherapy Response in Left- and Right-Sided Colon Cancer. 62
35444656 2022
34
Automatic Grading of Disc Herniation, Central Canal Stenosis and Nerve Roots Compression in Lumbar Magnetic Resonance Image Diagnosis. 62
35733770 2022
35
Association between screen time and hyperactive behaviors in children under 3 years in China. 62
36440411 2022
36
SOX11 is a sensitive and specific marker for pulmonary high-grade neuroendocrine tumors. 62
34996493 2022
37
Transitions in Frequent to Daily Tobacco and Nicotine Use among Youth and Young Adults. 62
35938747 2022
38
A Transcriptome Sequencing Study on Genome-Wide Gene Expression Differences of Lung Cancer Cells Modulated by Fucoidan. 62
35299642 2022
39
Regulation of Soil Microbial Community Structure and Biomass to Mitigate Soil Greenhouse Gas Emission. 62
35547151 2022
40
Clinical study on the effectiveness and safety of loose combined cutting seton in the treatment of high perianal abscess: a randomized controlled trial protocol. 62
35282049 2022
41
Surgical decompression via the unilateral intervertebral foraminal approach with local anesthesia for treating elderly patients with lumbar central canal stenosis. 62
34852321 2021
42
Structural changes of lignin-carbohydrate complexes (LCCs) from Chinese quince fruits during the sequential fractionation of pectic and hemicellulosic polysaccharides. 62
34673104 2021
43
Prevalence of current large cigar versus little cigar/cigarillo smoking among U.S. adults, 2018-2019. 62
34976610 2021
44
Do tumor localization, microsatellite instability and mismatch repair deficiency have an impact on the prognosis of colorectal cancer? 62
34889790 2021
45
Impact of Service Quality of Low-Cost Carriers on Airline Image and Consumers' Satisfaction and Loyalty during the COVID-19 Outbreak. 62
35010341 2021
46
Protective effects of flavonoids from the leaves of Carya cathayensis Sarg. against H2O2-induced oxidative damage and apoptosis in vitro. 62
34721685 2021
47
Structural Characterization of Lignin-Carbohydrate Complexes (LCCs) and Their Biotransformation by Intestinal Microbiota In Vitro. 62
34634902 2021
48
Impact of California's tobacco and cannabis policies on the retail availability of little cigars/cigarillos and blunt wraps. 62
34600261 2021
49
Protective Effects of Lignin-Carbohydrate Complexes from Wheat Stalk against Bisphenol a Neurotoxicity in Zebrafish via Oxidative Stress. 62
34679774 2021
50
Structural characterization of the lignin-carbohydrate complex in biomass pretreated with Fenton oxidation and hydrothermal treatment and consequences on enzymatic hydrolysis efficiency. 62
34364619 2021

Variations for Lethal Congenital Contracture Syndrome

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLE1 NM_001003722.2(GLE1):c.*540G>A SNV Uncertain Significance
365141 rs886063492 GRCh37: 9:131303989-131303989
GRCh38: 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 RAE1 NXT1 NXF1 NUP88 NUP42 NUP155
2
Show member pathways
12.41 RAE1 NUP88 NUP42 NUP155
3
Show member pathways
12.35 RAE1 NUP88 NUP42 NUP155 NEK9
4
Show member pathways
12.26 RAE1 NUP88 NUP42 NUP155
5
Show member pathways
12.21 RAE1 NUP88 NUP42 NUP155
6
Show member pathways
12.14 RAE1 NUP88 NUP42 NUP155
7
Show member pathways
12.04 NUP155 NUP42 NUP88 RAE1
8
Show member pathways
11.8 RAE1 NUP88 NUP42 NUP155
9
Show member pathways
11.69 RAE1 NUP88 NUP42 NUP155
10
Show member pathways
11.46 RAE1 NUP88 NUP42 NUP155
11
Show member pathways
11.37 RAE1 NXT1 NXF1 NUP88 NUP42 NUP155

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 9.73 RAE1 NXF1 NUP88 NUP42 NUP155 GLE1
2 nuclear pore GO:0005643 9.53 RAE1 NXT1 NXF1 NUP88 NUP42 NUP155
3 nuclear RNA export factor complex GO:0042272 9.46 NXT1 NXF1

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

# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.01 NXT1 NXF1 NUP88 NUP42 NUP155 GLE1
2 poly(A)+ mRNA export from nucleus GO:0016973 9.8 NXF1 GLE1 DDX19B
3 Schwann cell differentiation GO:0014037 9.73 ERBB3 ADGRG6
4 mRNA transport GO:0051028 9.73 NXF1 NUP88 NUP42 NUP155 GLE1
5 nucleocytoplasmic transport GO:0006913 9.73 RAE1 NXT1 NUP88 NUP42 NUP155 GLE1
6 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.67 RAE1 NUP155
7 RNA export from nucleus GO:0006405 9.63 NUP155 NXF1 NXT1 RAE1
8 mRNA export from nucleus GO:0006406 9.44 RAE1 NXT1 NXF1 NUP88 NUP155 GLE1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activator activity GO:0030296 9.26 ERCC6 ERBB3
2 nucleotide binding GO:0000166 9.23 PIP5K1C NEK9 IPPK ERCC6 ERBB3 DNM2

Sources for Lethal Congenital Contracture Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....