LCCS1
MCID: LTH007
MIFTS: 53

Lethal Congenital Contracture Syndrome 1 (LCCS1)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 1

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 1:

Name: Lethal Congenital Contracture Syndrome 1 57 11 19 73 28 12 5 43 14 71
Multiple Contracture Syndrome, Finnish Type 57 11 19 58
Lccs1 57 11 58 73
Lethal Autosomal Recessive Syndrome of Multiple Congenital Contractures 19
Contracture Syndrome, Lethal, Congenital, Type 1 38
Lethal Congenital Contracture Syndrome Type 1 58
Multiple Contracture Syndrome Finnish Type 73
Herva Disease 58
Lccs 57

Characteristics:


Inheritance:

Lethal Congenital Contracture Syndrome 1: Autosomal recessive 57
Lethal Congenital Contracture Syndrome Type 1: Autosomal recessive 58

Prevelance:

Lethal Congenital Contracture Syndrome Type 1: 1-9/100000 (Finland) 58

Age Of Onset:

Lethal Congenital Contracture Syndrome Type 1: Antenatal,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
neonatal death


Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0060559
OMIM® 57 253310
OMIM Phenotypic Series 57 PS253310
SNOMED-CT 68 715418007
MESH via Orphanet 44 C537194
ICD10 via Orphanet 32 Q68.8
UMLS via Orphanet 72 C1854664
Orphanet 58 ORPHA1486
MedGen 40 C1854664
UMLS 71 C1854664

Summaries for Lethal Congenital Contracture Syndrome 1

GARD: 19 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

MalaCards based summary: Lethal Congenital Contracture Syndrome 1, also known as multiple contracture syndrome, finnish type, is related to lethal congenital contracture syndrome 3 and lethal congenital contracture syndrome 2. An important gene associated with Lethal Congenital Contracture Syndrome 1 is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways are Metabolism and Transport of the SLBP independent Mature mRNA. Affiliated tissues include skeletal muscle, spinal cord and bone, and related phenotypes are hypertelorism and short stature

Orphanet: 58 Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.

UniProtKB/Swiss-Prot: 73 A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non- progressive joint contractures (arthrogryposis). 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. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death.

OMIM®: 57 Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder 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 (summary by Markus et al., 2012). (253310) (Updated 08-Dec-2022)

Disease Ontology: 11 A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.

Related Diseases for Lethal Congenital Contracture Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 3 31.4 PIP5K1C MYBPC1
2 lethal congenital contracture syndrome 2 30.8 ZBTB42 SON PIP5K1C MYBPC1 GLE1
3 lethal congenital contracture syndrome 29.5 ZBTB42 THOC2 SON RAE1 PIP5K1C NXT1
4 distal arthrogryposis 29.4 ZBTB42 PIP5K1C MYBPC1 GLE1
5 anterior horn cell disease 26.9 THOC2 SON RAE1 NXT1 NXF1 NUP98
6 congenital arthrogryposis with anterior horn cell disease 11.4
7 lethal congenital contracture syndrome 7 10.9
8 lethal congenital contracture syndrome 8 10.9
9 hydrops fetalis, nonimmune 10.3
10 congenital contractures 10.1
11 cranioectodermal dysplasia 4 10.1 NUP88 GLE1
12 myasthenic syndrome, congenital, 4b, fast-channel 9.9 MYBPC1 GLE1
13 arthrogryposis, distal, type 1a 9.9
14 ceroid lipofuscinosis, neuronal, 5 9.9
15 spinal muscular atrophy 9.9
16 motor neuron disease 9.9
17 muscular atrophy 9.9
18 arthrogryposis, distal, type 10 9.9 ZBTB42 MYBPC1 GLE1
19 arthrogryposis, distal, type 7 9.9 ZBTB42 MYBPC1 GLE1
20 acute basophilic leukemia 9.8 U2AF1 NUP214
21 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 9.8 MYBPC1 GLE1
22 arthrogryposis, distal, type 5 9.8 ZBTB42 PIP5K1C MYBPC1 GLE1
23 childhood acute myeloid leukemia 9.7 U2AF1 NUP98 NUP214

Graphical network of the top 20 diseases related to Lethal Congenital Contracture Syndrome 1:



Diseases related to Lethal Congenital Contracture Syndrome 1

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 1

Human phenotypes related to Lethal Congenital Contracture Syndrome 1:

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000316
2 short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004322
3 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
4 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
5 pulmonary hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002089
6 abnormal hip bone morphology 30 Hallmark (90%) HP:0003272
7 short neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000470
8 abnormal cortical bone morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0003103
9 webbed neck 58 30 Frequent (33%) Frequent (79-30%)
HP:0000465
10 slender long bone 58 30 Frequent (33%) Frequent (79-30%)
HP:0003100
11 low-set, posteriorly rotated ears 58 30 Frequent (33%) Frequent (79-30%)
HP:0000368
12 polyhydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001561
13 recurrent fractures 58 30 Frequent (33%) Frequent (79-30%)
HP:0002757
14 abnormality of the elbow 58 30 Frequent (33%) Frequent (79-30%)
HP:0009811
15 limitation of joint mobility 58 30 Frequent (33%) Frequent (79-30%)
HP:0001376
16 amniotic constriction ring 58 30 Frequent (33%) Frequent (79-30%)
HP:0009775
17 abnormal rib morphology 30 Frequent (33%) HP:0000772
18 abnormal form of the vertebral bodies 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003312
19 abnormality of the hip bone 58 Very frequent (99-80%)
20 abnormality of the ribs 58 Frequent (79-30%)
21 arthrogryposis multiplex congenita 30 HP:0002804
22 hypoplasia of the musculature 30 HP:0009004
23 edema 30 HP:0000969
24 abnormality of the amniotic fluid 30 HP:0001560
25 paucity of anterior horn motor neurons 30 HP:0007277
26 abnormal thorax morphology 30 HP:0000765
27 widening of cervical spinal canal 30 HP:0004571

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Face:
micrognathia

Neurologic Central Nervous System:
paucity of anterior horn motor neurons

Chest Ribs Sternum Clavicles And Scapulae:
thin fishbone-like ribs

Prenatal Manifestations Amniotic Fluid:
marked fetal hydrops

Respiratory Lung:
pulmonary hypoplasia

Muscle Soft Tissue:
muscle atrophy
muscle hypoplasia

Skeletal Limbs:
multiple congenital contractures
generalized thinning of tubular bones

Clinical features from OMIM®:

253310 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.36 NUP98 NXF1 SON U2AF1
2 Decreased viability GR00240-S-1 10.36 NUP98 NXF1 SON
3 Decreased viability GR00249-S 10.36 NUP98 NXF1 SON
4 Decreased viability GR00381-A-1 10.36 NXF1
5 Decreased viability GR00386-A-1 10.36 NUP98 NXF1 SON
6 Decreased viability GR00402-S-2 10.36 NUP98 NXF1 SON U2AF1
7 Increased number of mitotic cells GR00098-A-3 9.73 NXF1 NXT1 SON U2AF1
8 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.56 NUP155 NUP214 NUP88 NUP98
9 Decreased influenza A H1N1 (A/WSN/33) virus numbers GR00195-A-2 9.54 NUP98 NXF1 SON
10 Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers GR00195-A-3 9.5 NUP98 NXF1 SON
11 Nuclear 40S maturation defects GR00209-A-2 9.46 NUP214 NUP88 NUP98 RAE1
12 Nuclear 60S biogenesis defects GR00209-A-3 9.35 GLE1 NUP214 NUP88 NUP98 RAE1
13 Increased SMN2 exon 7 inclusion GR00254-A 8.62 SON U2AF1

MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.4 DDX19B DDX39B GLE1 IPPK MYBPC1 NUP155

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 1

Search Clinical Trials, NIH Clinical Center for Lethal Congenital Contracture Syndrome 1

Cochrane evidence based reviews: lethal congenital contracture syndrome 1

Genetic Tests for Lethal Congenital Contracture Syndrome 1

Genetic tests related to Lethal Congenital Contracture Syndrome 1:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 1 28 GLE1

Anatomical Context for Lethal Congenital Contracture Syndrome 1

Organs/tissues related to Lethal Congenital Contracture Syndrome 1:

MalaCards : Skeletal Muscle, Spinal Cord, Bone, Lung, Cardiac Myocytes, Colon, Smooth Muscle
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Lethal Congenital Contracture Syndrome 1

Articles related to Lethal Congenital Contracture Syndrome 1:

(show top 50) (show all 355)
# Title Authors PMID Year
1
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 62 57 5
18204449 2008
2
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 62 5
28884921 2017
3
Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease. 62 5
24243016 2013
4
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. 62 57
22610851 2012
5
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. 62 57
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. 62 57
9683599 1998
7
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. 62 57
7897624 1995
8
Lethal congenital contracture syndrome: further delineation and genetic aspects. 62 57
7966188 1994
9
A lethal autosomal recessive syndrome of multiple congenital contractures. 62 57
3993672 1985
10
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. 57
3344776 1988
11
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. 57
6875715 1983
12
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
13
Epidemiology of tick-borne pathogens of cattle and tick control practices in coastal Kenya. 62
36272258 2022
14
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
15
Tobacco Whack-A-Mole: A Consumption Taxonomy of Cigar & Other Combustible Tobacco Products among a Nationally Representative Sample of Young Adults. 62
36429968 2022
16
Structural evolution of lignin after selective oxidation of lignin-carbohydrate complex by chlorine dioxide. 62
36347375 2022
17
Themes in TikTok Videos Featuring Little Cigars and Cigarillos: Content Analysis. 62
36383406 2022
18
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
19
Lignin-carbohydrate complexes suppress SCA3 neurodegeneration via upregulating proteasomal activities. 62
35872311 2022
20
Seismic design of setback irregular steel structures based on life cycle cost. 62
36202984 2022
21
Single-use, co-use, and polysubstance use of alcohol, tobacco, and cannabis in sexual minority and heterosexual females. 62
36250728 2022
22
Recovery of Chinese low-cost carriers after the outbreak of COVID-19 pandemic. 62
35975184 2022
23
Steam explosion of Aucoumea klaineana sapwood: Membrane separation of acetylated hemicelluloses. 62
35728390 2022
24
Correction: Condorelli et al. Nano-Hybrid [email protected] Systems Displaying Anti-Inflammatory Activity. Materials 2022, 15, 3701. 62
36079564 2022
25
Origins of covalent linkages within the lignin-carbohydrate network of biomass. 62
35993292 2022
26
The Impact of Low-Carbon City (LCC) on Elderly People's Health: Evidence from a Natural Experiment in China. 62
35954783 2022
27
The Critical View of Safety in Laparoscopic Cholecystectomy: User Trends Among Residents and Consultants. 62
35881992 2022
28
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
29
Validity of a little cigars/cigarillos purchase task in dual users of cigars and cigarettes. 62
35255241 2022
30
Direct Conversion of Human Endothelial Cells Into Liver Cancer-Forming Cells Using Nonintegrative Episomal Vectors. 62
35220676 2022
31
Identification and quantification of immune infiltration landscape on therapy and prognosis in left- and right-sided colon cancer. 62
34657172 2022
32
Nano-Hybrid [email protected] Systems Displaying Anti-Inflammatory Activity. 62
35629727 2022
33
Lignin-carbohydrate complexes, their fractionation, and application to healthcare materials: A review. 62
35093431 2022
34
Life-Cycle Cost Analysis of Long-Span CFRP Cable-Stayed Bridges. 62
35566910 2022
35
A biological sub-sequences detection using integrated BA-PSO based on infection propagation mechanism: Case study COVID-19. 62
34690450 2022
36
L-type Ca2+ channel recovery from inactivation in rabbit atrial myocytes. 62
35274829 2022
37
Chlorine dioxide oxidation of hemicellulose from alkaline hydrolysate bagasse to remove lignin unit in lignin-carbohydrate complex. 62
34893234 2022
38
Pulmonary large cell carcinoma with neuroendocrine morphology shows genetic similarity to large cell neuroendocrine carcinoma. 62
35144629 2022
39
Cigar Harm Beliefs and Associations with Cigar Use among Young Adults. 62
35786154 2022
40
Association between screen time and hyperactive behaviors in children under 3 years in China. 62
36440411 2022
41
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
42
Automatic Grading of Disc Herniation, Central Canal Stenosis and Nerve Roots Compression in Lumbar Magnetic Resonance Image Diagnosis. 62
35733770 2022
43
Transitions in Frequent to Daily Tobacco and Nicotine Use among Youth and Young Adults. 62
35938747 2022
44
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
45
SOX11 is a sensitive and specific marker for pulmonary high-grade neuroendocrine tumors. 62
34996493 2022
46
A Transcriptome Sequencing Study on Genome-Wide Gene Expression Differences of Lung Cancer Cells Modulated by Fucoidan. 62
35299642 2022
47
Regulation of Soil Microbial Community Structure and Biomass to Mitigate Soil Greenhouse Gas Emission. 62
35547151 2022
48
Surgical decompression via the unilateral intervertebral foraminal approach with local anesthesia for treating elderly patients with lumbar central canal stenosis. 62
34852321 2021
49
Structural changes of lignin-carbohydrate complexes (LCCs) from Chinese quince fruits during the sequential fractionation of pectic and hemicellulosic polysaccharides. 62
34673104 2021
50
Prevalence of current large cigar versus little cigar/cigarillo smoking among U.S. adults, 2018-2019. 62
34976610 2021

Variations for Lethal Congenital Contracture Syndrome 1

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 1:

5 (show top 50) (show all 62)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLE1 NM_001003722.2(GLE1):c.1706G>A (p.Arg569His) SNV Pathogenic
6463 rs121434407 GRCh37: 9:131298693-131298693
GRCh38: 9:128536414-128536414
2 GLE1 NM_001003722.2(GLE1):c.433-10A>G SNV Pathogenic
6462 rs386833693 GRCh37: 9:131284937-131284937
GRCh38: 9:128522658-128522658
3 ERBB3 NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del) MICROSAT Uncertain Significance
522965 rs780883720 GRCh37: 12:56495375-56495377
GRCh38: 12:56101591-56101593
4 GLE1 NM_001003722.2(GLE1):c.1243-5G>A SNV Uncertain Significance
706479 rs372835667 GRCh37: 9:131289730-131289730
GRCh38: 9:128527451-128527451
5 GLE1 NM_001003722.2(GLE1):c.643-4A>G SNV Uncertain Significance
706615 rs369804957 GRCh37: 9:131285867-131285867
GRCh38: 9:128523588-128523588
6 GLE1 NM_001003722.2(GLE1):c.1882-8C>G SNV Uncertain Significance
915237 rs757998854 GRCh37: 9:131301887-131301887
GRCh38: 9:128539608-128539608
7 GLE1 NM_001003722.2(GLE1):c.1964+8G>T SNV Uncertain Significance
915238 rs1847831145 GRCh37: 9:131301985-131301985
GRCh38: 9:128539706-128539706
8 GLE1 NM_001499.2(GLE1):c.-108C>A SNV Uncertain Significance
365126 rs545478697 GRCh37: 9:131266977-131266977
GRCh38: 9:128504698-128504698
9 GLE1 NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) SNV Uncertain Significance
256860 rs146800850 GRCh37: 9:131286051-131286051
GRCh38: 9:128523772-128523772
10 GLE1 NM_001003722.2(GLE1):c.*782C>G SNV Uncertain Significance
365144 rs886063494 GRCh37: 9:131304231-131304231
GRCh38: 9:128541952-128541952
11 GLE1 NM_001003722.2(GLE1):c.-81C>T SNV Uncertain Significance
365128 rs56214514 GRCh37: 9:131267004-131267004
GRCh38: 9:128504725-128504725
12 GLE1 NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) SNV Uncertain Significance
Uncertain Significance
285426 rs150246404 GRCh37: 9:131267089-131267089
GRCh38: 9:128504810-128504810
13 GLE1 NM_001003722.2(GLE1):c.*111T>C SNV Uncertain Significance
365137 rs567740764 GRCh37: 9:131303560-131303560
GRCh38: 9:128541281-128541281
14 GLE1 NM_001003722.2(GLE1):c.2028+15G>A SNV Uncertain Significance
365135 rs886063490 GRCh37: 9:131302632-131302632
GRCh38: 9:128540353-128540353
15 GLE1 NM_001003722.2(GLE1):c.749C>T (p.Ala250Val) SNV Uncertain Significance
365134 rs886063489 GRCh37: 9:131285977-131285977
GRCh38: 9:128523698-128523698
16 GLE1 NM_001003722.2(GLE1):c.*390C>T SNV Uncertain Significance
365140 rs886063491 GRCh37: 9:131303839-131303839
GRCh38: 9:128541560-128541560
17 GLE1 NM_001003722.2(GLE1):c.321+13T>G SNV Uncertain Significance
365132 rs752458769 GRCh37: 9:131271389-131271389
GRCh38: 9:128509110-128509110
18 GLE1 NM_001003722.2(GLE1):c.*933A>C SNV Uncertain Significance
365146 rs537244282 GRCh37: 9:131304382-131304382
GRCh38: 9:128542103-128542103
19 GLE1 NM_001003722.2(GLE1):c.-51G>A SNV Uncertain Significance
365129 rs527886091 GRCh37: 9:131267034-131267034
GRCh38: 9:128504755-128504755
20 GLE1 NM_001003722.2(GLE1):c.*640C>T SNV Uncertain Significance
365142 rs575049150 GRCh37: 9:131304089-131304089
GRCh38: 9:128541810-128541810
21 GLE1 NM_001003722.2(GLE1):c.-84A>C SNV Uncertain Significance
365127 rs886063488 GRCh37: 9:131267001-131267001
GRCh38: 9:128504722-128504722
22 GLE1 NM_001003722.2(GLE1):c.*708T>C SNV Uncertain Significance
365143 rs886063493 GRCh37: 9:131304157-131304157
GRCh38: 9:128541878-128541878
23 GLE1 NM_001003722.2(GLE1):c.-45T>C SNV Uncertain Significance
365130 rs372008961 GRCh37: 9:131267040-131267040
GRCh38: 9:128504761-128504761
24 GLE1 NM_001003722.2(GLE1):c.54C>G (p.Asp18Glu) SNV Uncertain Significance
365131 rs549769200 GRCh37: 9:131267138-131267138
GRCh38: 9:128504859-128504859
25 GLE1 NM_001003722.2(GLE1):c.679C>T (p.Arg227Cys) SNV Uncertain Significance
284416 rs146025848 GRCh37: 9:131285907-131285907
GRCh38: 9:128523628-128523628
26 GLE1 NM_001003722.2(GLE1):c.-34G>A SNV Uncertain Significance
912454 rs746646699 GRCh37: 9:131267051-131267051
GRCh38: 9:128504772-128504772
27 GLE1 NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys) SNV Uncertain Significance
912487 rs1399822902 GRCh37: 9:131287501-131287501
GRCh38: 9:128525222-128525222
28 GLE1 NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln) SNV Uncertain Significance
912488 rs147943229 GRCh37: 9:131287520-131287520
GRCh38: 9:128525241-128525241
29 GLE1 NM_001003722.2(GLE1):c.*381C>T SNV Uncertain Significance
912543 rs1406484784 GRCh37: 9:131303830-131303830
GRCh38: 9:128541551-128541551
30 GLE1 NM_001003722.2(GLE1):c.*962C>T SNV Uncertain Significance
912589 rs1429188870 GRCh37: 9:131304411-131304411
GRCh38: 9:128542132-128542132
31 GLE1 NM_001003722.2(GLE1):c.*1002G>C SNV Uncertain Significance
912590 rs1019748251 GRCh37: 9:131304451-131304451
GRCh38: 9:128542172-128542172
32 GLE1 NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly) SNV Uncertain Significance
913573 rs998518976 GRCh37: 9:131267160-131267160
GRCh38: 9:128504881-128504881
33 GLE1 NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu) SNV Uncertain Significance
913605 rs147123899 GRCh37: 9:131287682-131287682
GRCh38: 9:128525403-128525403
34 GLE1 NM_001003722.2(GLE1):c.1130-15T>C SNV Uncertain Significance
913606 rs758765842 GRCh37: 9:131289443-131289443
GRCh38: 9:128527164-128527164
35 GLE1 NM_001003722.2(GLE1):c.*425A>G SNV Uncertain Significance
913645 rs577169921 GRCh37: 9:131303874-131303874
GRCh38: 9:128541595-128541595
36 GLE1 NM_001003722.2(GLE1):c.*525C>T SNV Uncertain Significance
913646 rs565110597 GRCh37: 9:131303974-131303974
GRCh38: 9:128541695-128541695
37 GLE1 NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu) SNV Uncertain Significance
913956 rs150781935 GRCh37: 9:131284999-131284999
GRCh38: 9:128522720-128522720
38 GLE1 NM_001003722.2(GLE1):c.573G>C (p.Met191Ile) SNV Uncertain Significance
913957 rs201267934 GRCh37: 9:131285087-131285087
GRCh38: 9:128522808-128522808
39 GLE1 NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile) SNV Uncertain Significance
914004 rs72756895 GRCh37: 9:131295875-131295875
GRCh38: 9:128533596-128533596
40 GLE1 NM_001003722.2(GLE1):c.1431A>G (p.Gln477=) SNV Uncertain Significance
914005 rs149283351 GRCh37: 9:131295910-131295910
GRCh38: 9:128533631-128533631
41 GLE1 NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly) SNV Uncertain Significance
914006 rs1847604014 GRCh37: 9:131296077-131296077
GRCh38: 9:128533798-128533798
42 GLE1 NM_001003722.2(GLE1):c.*536G>A SNV Uncertain Significance
914048 rs371069460 GRCh37: 9:131303985-131303985
GRCh38: 9:128541706-128541706
43 GLE1 NM_001003722.2(GLE1):c.*599G>A SNV Uncertain Significance
914049 rs1847888254 GRCh37: 9:131304048-131304048
GRCh38: 9:128541769-128541769
44 GLE1 NM_001003722.2(GLE1):c.*618T>C SNV Uncertain Significance
914050 rs973004617 GRCh37: 9:131304067-131304067
GRCh38: 9:128541788-128541788
45 GLE1 NM_001003722.2(GLE1):c.*907G>A SNV Uncertain Significance
914557 rs55823126 GRCh37: 9:131304356-131304356
GRCh38: 9:128542077-128542077
46 GLE1 NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly) SNV Uncertain Significance
915198 rs751057699 GRCh37: 9:131285947-131285947
GRCh38: 9:128523668-128523668
47 GLE1 NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln) SNV Uncertain Significance
915199 rs778870141 GRCh37: 9:131285965-131285965
GRCh38: 9:128523686-128523686
48 GLE1 NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu) SNV Uncertain Significance
914007 rs1345583590 GRCh37: 9:131296138-131296138
GRCh38: 9:128533859-128533859
49 GLE1 NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) SNV Likely Benign
702330 rs138871311 GRCh37: 9:131271171-131271171
GRCh38: 9:128508892-128508892
50 GLE1 NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) SNV Likely Benign
289027 rs141709685 GRCh37: 9:131295872-131295872
GRCh38: 9:128533593-128533593

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 1:

73
# Symbol AA change Variation ID SNP ID
1 GLE1 p.Arg569His VAR_043875 rs121434407

Expression for Lethal Congenital Contracture Syndrome 1

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 1.

Pathways for Lethal Congenital Contracture Syndrome 1

Pathways related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 RAE1 PIP5K1C NUP98 NUP88 NUP42 NUP214
2
Show member pathways
13.27 RAE1 NXF1 NUP98 NUP88 NUP42 NUP214
3
Show member pathways
13.12 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
4
Show member pathways
13.04 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
5
Show member pathways
12.92 U2AF1 THOC2 RAE1 NXT1 NXF1 NUP98
6
Show member pathways
12.85 NUP155 NUP214 NUP42 NUP88 NUP98 RAE1
7
Show member pathways
12.76 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
8
Show member pathways
12.6 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
9
Show member pathways
12.57 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
10
Show member pathways
12.42 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
11
Show member pathways
12.38 NUP155 NUP214 NUP42 NUP88 NUP98 RAE1
12
Show member pathways
12.32 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
13
Show member pathways
12.22 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
14
Show member pathways
12.04 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
15
Show member pathways
11.96 RAE1 NUP98 NUP88 NUP42 NUP214 NUP155
16
Show member pathways
11.84 NUP155 NUP214 NUP42 NUP88 NUP98 RAE1
17
Show member pathways
11.6 U2AF1 THOC2 RAE1 NXT1 NXF1 NUP98

GO Terms for Lethal Congenital Contracture Syndrome 1

Cellular components related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.51 DDX19B DDX39B IPPK NUP214 NUP42 NUP88
2 nucleus GO:0005634 10.35 DDX19B DDX39B GLE1 IPPK NUP155 NUP214
3 nuclear speck GO:0016607 10.1 U2AF1 THOC2 SON NXT1 NXF1 DDX39B
4 nuclear membrane GO:0031965 10.06 NUP98 NUP42 NUP155 GLE1
5 nuclear envelope GO:0005635 9.86 DDX19B GLE1 NUP155 NUP214 NUP42 NUP88
6 nuclear inclusion body GO:0042405 9.73 NXF1 NUP98
7 nuclear RNA export factor complex GO:0042272 9.71 NXT1 NXF1
8 nuclear pore GO:0005643 9.62 RAE1 NXT1 NXF1 NUP98 NUP88 NUP42
9 transcription export complex GO:0000346 9.55 THOC2 NXF1 DDX39B

Biological processes related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 10.1 U2AF1 THOC2 SON DDX39B
2 protein import into nucleus GO:0006606 10.1 NUP155 NUP214 NUP88 NUP98 NXT1
3 protein transport GO:0015031 10.07 NXT1 NXF1 NUP98 NUP88 NUP42 NUP214
4 nucleocytoplasmic transport GO:0006913 10.06 RAE1 NXT1 NUP98 NUP88 NUP42 NUP214
5 RNA export from nucleus GO:0006405 9.96 DDX39B NUP155 NUP214 NXF1 NXT1 RAE1
6 poly(A)+ mRNA export from nucleus GO:0016973 9.92 THOC2 NXF1 GLE1 DDX19B
7 protein export from nucleus GO:0006611 9.91 NXT1 NUP42 NUP214
8 viral mRNA export from host cell nucleus GO:0046784 9.78 THOC2 DDX39B
9 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.76 RAE1 NUP155
10 mRNA transport GO:0051028 9.7 DDX39B GLE1 NUP155 NUP214 NUP42 NUP88
11 mRNA export from nucleus GO:0006406 9.6 THOC2 RAE1 NXT1 NXF1 NUP88 NUP214

Molecular functions related to Lethal Congenital Contracture Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 10.13 U2AF1 THOC2 SON RAE1 NXF1 NUP42
2 nuclear export signal receptor activity GO:0005049 9.46 NUP42 NUP214
3 nucleic acid binding GO:0003676 9.35 U2AF1 SON NXF1 DDX39B DDX19B
4 structural constituent of nuclear pore GO:0017056 9.23 NUP98 NUP88 NUP214 NUP155

Sources for Lethal Congenital Contracture Syndrome 1

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
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