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

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...

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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 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:

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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:

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

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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

Genetic tests related to Lethal Congenital Contracture Syndrome:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome ²⁸

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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

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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	Nighbor TD...Higgins ST	35787842	2022
2	Epidemiology of tick-borne pathogens of cattle and tick control practices in coastal Kenya. ⁶²	Oundo JW...Kalayou S	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	Zhang C...Xu Y	36454529	2022
4	Structural evolution of lignin after selective oxidation of lignin-carbohydrate complex by chlorine dioxide. ⁶²	Zhao J...Liang C	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	Sterling KL...Gunzler D	36429968	2022
6	Themes in TikTok Videos Featuring Little Cigars and Cigarillos: Content Analysis. ⁶²	Vassey J...Allem JP	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	Garcia-Pardo M...Liu G	36396063	2022
8	Seismic design of setback irregular steel structures based on life cycle cost. ⁶²	Jebelli ST...Tehrani P	36202984	2022
9	Recovery of Chinese low-cost carriers after the outbreak of COVID-19 pandemic. ⁶²	Liao M...Yan H	35975184	2022
10	Single-use, co-use, and polysubstance use of alcohol, tobacco, and cannabis in sexual minority and heterosexual females. ⁶²	Ehlke SJ...Cohn AM	36250728	2022
11	Lignin-carbohydrate complexes suppress SCA3 neurodegeneration via upregulating proteasomal activities. ⁶²	Chen ZS...Chan HYE	35872311	2022
12	A novel biallelic variant c.2219T > A p.(Leu740*) in ADGRG6 as a cause of lethal congenital contracture syndrome 9. ⁶²	Shravya MS...Nayak SS	36210633	2022
13	Steam explosion of Aucoumea klaineana sapwood: Membrane separation of acetylated hemicelluloses. ⁶²	Moukagni EM...Brosse N	35728390	2022
14	Correction: Condorelli et al. Nano-Hybrid [email protected] Systems Displaying Anti-Inflammatory Activity. Materials 2022, 15, 3701. ⁶²	Condorelli M...Saija A	36079564	2022
15	Origins of covalent linkages within the lignin-carbohydrate network of biomass. ⁶²	Beck S...Mushrif SH	35993292	2022
16	The Impact of Low-Carbon City (LCC) on Elderly People's Health: Evidence from a Natural Experiment in China. ⁶²	Mu S...Mohiuddin M	35954783	2022
17	The Critical View of Safety in Laparoscopic Cholecystectomy: User Trends Among Residents and Consultants. ⁶²	Terho P...Mentula P	35881992	2022
18	Validity of a little cigars/cigarillos purchase task in dual users of cigars and cigarettes. ⁶²	Mead-Morse EL...Litt M	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	Lee E...Sterling KL	35897303	2022
20	Direct Conversion of Human Endothelial Cells Into Liver Cancer-Forming Cells Using Nonintegrative Episomal Vectors. ⁶²	Goya T...Suzuki A	35220676	2022
21	Identification and quantification of immune infiltration landscape on therapy and prognosis in left- and right-sided colon cancer. ⁶²	Guo JN...Liu YL	34657172	2022
22	Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review. ⁶²	Potrony M...Rodriguez-Revenga L	35806855	2022
23	Nano-Hybrid [email protected] Systems Displaying Anti-Inflammatory Activity. ⁶²	Condorelli M...Saija A	35629727	2022
24	Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants. ⁶²	Eurich B...Stichtenoth G	35740734	2022
25	Life-Cycle Cost Analysis of Long-Span CFRP Cable-Stayed Bridges. ⁶²	Liu Y...Tafsirojjaman T	35566910	2022
26	Lignin-carbohydrate complexes, their fractionation, and application to healthcare materials: A review. ⁶²	Chen W...Li X	35093431	2022
27	L-type Ca2+ channel recovery from inactivation in rabbit atrial myocytes. ⁶²	Martinez-Hernandez E...Kanaporis G	35274829	2022
28	A biological sub-sequences detection using integrated BA-PSO based on infection propagation mechanism: Case study COVID-19. ⁶²	Issa M...Abd Elaziz M	34690450	2022
29	[Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7]. ⁶²	Zhang Y...Hou Q	35076918	2022
30	Pulmonary large cell carcinoma with neuroendocrine morphology shows genetic similarity to large cell neuroendocrine carcinoma. ⁶²	Liang Z...Jiang L	35144629	2022
31	Chlorine dioxide oxidation of hemicellulose from alkaline hydrolysate bagasse to remove lignin unit in lignin-carbohydrate complex. ⁶²	Han J...Zhao J	34893234	2022
32	Cigar Harm Beliefs and Associations with Cigar Use among Young Adults. ⁶²	Cornacchione Ross J...Sutfin EL	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	Zhang HC...Liu YL	35444656	2022
34	Automatic Grading of Disc Herniation, Central Canal Stenosis and Nerve Roots Compression in Lumbar Magnetic Resonance Image Diagnosis. ⁶²	Su ZH...Lu H	35733770	2022
35	Association between screen time and hyperactive behaviors in children under 3 years in China. ⁶²	Wu JB...Jing J	36440411	2022
36	SOX11 is a sensitive and specific marker for pulmonary high-grade neuroendocrine tumors. ⁶²	Yu L...Duan Y	34996493	2022
37	Transitions in Frequent to Daily Tobacco and Nicotine Use among Youth and Young Adults. ⁶²	Do EK...Hair EC	35938747	2022
38	A Transcriptome Sequencing Study on Genome-Wide Gene Expression Differences of Lung Cancer Cells Modulated by Fucoidan. ⁶²	Zhao Y...Zhou Q	35299642	2022
39	Regulation of Soil Microbial Community Structure and Biomass to Mitigate Soil Greenhouse Gas Emission. ⁶²	Muhammad I...Zhou XB	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	Shi Y...Zhang Y	35282049	2022
41	Surgical decompression via the unilateral intervertebral foraminal approach with local anesthesia for treating elderly patients with lumbar central canal stenosis. ⁶²	Pan W...Ruan B	34852321	2021
42	Structural changes of lignin-carbohydrate complexes (LCCs) from Chinese quince fruits during the sequential fractionation of pectic and hemicellulosic polysaccharides. ⁶²	Wei YN...Wang XD	34673104	2021
43	Prevalence of current large cigar versus little cigar/cigarillo smoking among U.S. adults, 2018-2019. ⁶²	Phan L...Choi K	34976610	2021
44	Do tumor localization, microsatellite instability and mismatch repair deficiency have an impact on the prognosis of colorectal cancer? ⁶²	Acar T...Dilek ON	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	Hassan TH...Salem AE	35010341	2021
46	Protective effects of flavonoids from the leaves of Carya cathayensis Sarg. against H2O2-induced oxidative damage and apoptosis in vitro. ⁶²	Zhou FM...Fang JJ	34721685	2021
47	Structural Characterization of Lignin-Carbohydrate Complexes (LCCs) and Their Biotransformation by Intestinal Microbiota In Vitro. ⁶²	Zhang R...Yu H	34634902	2021
48	Impact of California's tobacco and cannabis policies on the retail availability of little cigars/cigarillos and blunt wraps. ⁶²	Timberlake DS...Andersen-Rodgers E	34600261	2021
49	Protective Effects of Lignin-Carbohydrate Complexes from Wheat Stalk against Bisphenol a Neurotoxicity in Zebrafish via Oxidative Stress. ⁶²	Gu J...Ji G	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	Jeong SY...Lee JW	34364619	2021

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Genes for Lethal Congenital Contracture Syndrome

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

(show all 23)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	GLE1	GLE1 RNA Export Mediator	Protein Coding	36.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name (show sections)
2	ZBTB42	Zinc Finger And BTB Domain Containing 42	Protein Coding	35.16	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
3	GLDN	Gliomedin	Protein Coding	34.71	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
4	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	22.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Gene name (show sections)
5	ADCY6	Adenylate Cyclase 6	Protein Coding	22.91	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
6	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	15.46	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
7	MYBPC1	Myosin Binding Protein C1	Protein Coding	15.37	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
8	CNTNAP1	Contactin Associated Protein 1	Protein Coding	14.74	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
9	DNM2	Dynamin 2	Protein Coding	14.5	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
10	ADGRG6	Adhesion G Protein-Coupled Receptor G6	Protein Coding	14.33	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
11	NEK9	NIMA Related Kinase 9	Protein Coding	13.64	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
12	RAE1	Ribonucleic Acid Export 1	Protein Coding	6.86	DISEASES inferred ¹⁴
13	NUP155	Nucleoporin 155	Protein Coding	6.79	DISEASES inferred ¹⁴
14	DDX19B	DEAD-Box Helicase 19B	Protein Coding	6.49	DISEASES inferred ¹⁴
15	NXF1	Nuclear RNA Export Factor 1	Protein Coding	6.11	DISEASES inferred ¹⁴
16	NXT1	Nuclear Transport Factor 2 Like Export Factor 1	Protein Coding	6.09	DISEASES inferred ¹⁴
17	NUP42	Nucleoporin 42	Protein Coding	5.98	DISEASES inferred ¹⁴
18	IPPK	Inositol-Pentakisphosphate 2-Kinase	Protein Coding	5.88	DISEASES inferred ¹⁴
19	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	5.73	DISEASES inferred ¹⁴ ¹⁴
20	NUP88	Nucleoporin 88	Protein Coding	5.66	DISEASES inferred ¹⁴
21	SON	SON DNA And RNA Binding Protein	Protein Coding	5.64	DISEASES inferred ¹⁴
22	THOC2	THO Complex Subunit 2	Protein Coding	5.6	DISEASES inferred ¹⁴
23	NUP214	Nucleoporin 214	Protein Coding	5.46	DISEASES inferred ¹⁴

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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

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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:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Processing of Capped Intron-Containing Pre-mRNA ⁶⁶ Show member pathways Metabolism of RNA ⁶⁶ mRNA processing ⁷⁴ mRNA Splicing ⁶⁶ mRNA Splicing - Major Pathway ⁶⁶	13.19	RAE1 NXT1 NXF1 NUP88 NUP42 NUP155
2	HCMV Infection ⁶⁶ Show member pathways HCMV Early Events ⁶⁶ HCMV Late Events ⁶⁶	12.41	RAE1 NUP88 NUP42 NUP155
3	Gene Silencing by RNA ⁶⁶ Show member pathways Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁶ MASTL Facilitates Mitotic Progression ⁶⁶ Mitotic Prophase ⁶⁶ RNAi Pathway ⁶⁴ Small interfering RNA (siRNA) biogenesis ⁶⁶ Transcriptional regulation by small RNAs ⁶⁶ tRNA-derived small RNA (tsRNA or tRNA-related fragment, tRF) biogenesis ⁶⁶	12.35	RAE1 NUP88 NUP42 NUP155 NEK9
4	Interferon gamma signaling ⁶⁶ Show member pathways Interferon Signaling ⁶⁶ Regulation of IFNG signaling ⁶⁶	12.26	RAE1 NUP88 NUP42 NUP155
5	Influenza Infection ⁶⁶ Show member pathways Influenza Viral RNA Transcription and Replication ⁶⁶ Influenza Virus Induced Apoptosis ⁶⁶ vRNP Assembly ⁶⁶	12.21	RAE1 NUP88 NUP42 NUP155
6	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.14	RAE1 NUP88 NUP42 NUP155
7	tRNA processing ⁶⁶ Show member pathways Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁶ tRNA modification in the mitochondrion ⁶⁶ tRNA modification in the nucleus and cytosol ⁶⁶ tRNA processing in the mitochondrion ⁶⁶ tRNA processing in the nucleus ⁶⁶ tRNA splicing II ⁶¹	12.04	NUP155 NUP42 NUP88 RAE1
8	Glycolysis (REACTOME) ⁶⁶ Show member pathways Glucose metabolism ⁶⁶ Regulation of glycolysis by fructose 2,6-bisphosphate metabolism ⁶⁶	11.8	RAE1 NUP88 NUP42 NUP155
9	Cellular response to heat stress ⁶⁶ Show member pathways HSF1 activation ⁶⁶ Regulation of HSF1-mediated heat shock response ⁶⁶	11.69	RAE1 NUP88 NUP42 NUP155
10	Antiviral mechanism by IFN-stimulated genes ⁶⁶ Show member pathways ISG15 antiviral mechanism ⁶⁶ OAS antiviral response ⁶⁶	11.46	RAE1 NUP88 NUP42 NUP155
11	Transport of Mature Transcript to Cytoplasm ⁶⁶ Show member pathways Transport of Mature mRNA derived from an Intron-Containing Transcript ⁶⁶	11.37	RAE1 NXT1 NXF1 NUP88 NUP42 NUP155

Sources

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

Sources for Lethal Congenital Contracture Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

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: [email protected]
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Lethal Congenital Contracture Syndrome (LCCS)

Aliases & Classifications for Lethal Congenital Contracture Syndrome

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome:

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Summaries for Lethal Congenital Contracture Syndrome

Related Diseases for Lethal Congenital Contracture Syndrome

Diseases in the Lethal Congenital Contracture Syndrome family:

Diseases related to Lethal Congenital Contracture Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome

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Anatomical Context for Lethal Congenital Contracture Syndrome

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Genes for Lethal Congenital Contracture Syndrome

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Variations for Lethal Congenital Contracture Syndrome

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome:

Expression for Lethal Congenital Contracture Syndrome

Pathways for Lethal Congenital Contracture Syndrome

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GO Terms for Lethal Congenital Contracture Syndrome

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

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