Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LCCS1
MCID: LTH007
MIFTS: 53

Lethal Congenital Contracture Syndrome 1 (LCCS1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Lethal Congenital Contracture Syndrome 1

About this section

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 1:

Name: Lethal Congenital Contracture Syndrome 1 57 12 20 73 29 13 6 44 15 71
Multiple Contracture Syndrome, Finnish Type 57 12 20 58
Lccs1 57 12 58 73
Lethal Autosomal Recessive Syndrome of Multiple Congenital Contractures 20
Contracture Syndrome, Lethal, Congenital, Type 1 39
Lethal Congenital Contracture Syndrome Type 1 58
Multiple Contracture Syndrome Finnish Type 73
Herva Disease 58
Lccs 57

Characteristics:

Orphanet epidemiological data:

58
lethal congenital contracture syndrome type 1
Inheritance: Autosomal recessive; Age of onset: Neonatal; Age of death: infantile;

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
neonatal death

Inheritance:
autosomal recessive


HPO:

31
lethal congenital contracture syndrome 1:
Onset and clinical course neonatal death
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Respiratory diseases Bone diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060559
OMIM® 57 253310
OMIM Phenotypic Series 57 PS253310
SNOMED-CT 67 715418007
MESH via Orphanet 45 C537194
ICD10 via Orphanet 33 Q68.8
UMLS via Orphanet 72 C1854664
Orphanet 58 ORPHA1486
MedGen 41 C1854664
UMLS 71 C1854664
Sources

Summaries for Lethal Congenital Contracture Syndrome 1

About this section
GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1486DefinitionLethal 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Lethal Congenital Contracture Syndrome 1, also known as multiple contracture syndrome, finnish type, is related to lethal congenital contracture syndrome and anterior horn cell disease. 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 Innate Immune System. The drugs Sodium citrate and Letrozole have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and spinal cord, and related phenotypes are hypertelorism and short stature

Disease Ontology : 12 A lethal congenital contracture syndrome that has material basis in homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34.

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 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Lethal congenital contracture syndrome 1: 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.

Sources

Related Diseases for Lethal Congenital Contracture Syndrome 1

About this section

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 13)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 31.2 SON RAE1 NXF1 NUP155 IPPK GLE1
2 anterior horn cell disease 28.4 SON RAE1 NXT1 NUP88 NUP214 NUP155
3 congenital arthrogryposis with anterior horn cell disease 11.3
4 lethal congenital contracture syndrome 3 10.9
5 lethal congenital contracture syndrome 7 10.9
6 lethal congenital contracture syndrome 8 10.9
7 congenital contractures 10.1
8 distal arthrogryposis 9.9
9 spinal muscular atrophy 9.9
10 muscular atrophy 9.9
11 congenital amyoplasia 9.9
12 lethal congenital contracture syndrome 2 9.8 SON GLE1 ERBB3
13 achalasia-addisonianism-alacrima syndrome 8.7 NUP85 NUP62 NUP35 NUP160 NUP155 GLE1

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



Diseases related to Lethal Congenital Contracture Syndrome 1
Sources

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 1

About this section

Human phenotypes related to Lethal Congenital Contracture Syndrome 1:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 abnormality of the hip bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003272
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 pulmonary hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002089
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 abnormal cortical bone morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003103
9 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
10 slender long bone 58 31 frequent (33%) Frequent (79-30%) HP:0003100
11 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
12 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
13 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
14 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
15 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
16 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
17 amniotic constriction ring 58 31 frequent (33%) Frequent (79-30%) HP:0009775
18 abnormal form of the vertebral bodies 58 31 occasional (7.5%) Occasional (29-5%) HP:0003312
19 arthrogryposis multiplex congenita 31 HP:0002804
20 edema 31 HP:0000969
21 hypoplasia of the musculature 31 HP:0009004
22 abnormality of the amniotic fluid 31 HP:0001560
23 paucity of anterior horn motor neurons 31 HP:0007277
24 abnormal thorax morphology 31 HP:0000765
25 widening of cervical spinal canal 31 HP:0004571

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 FOXO1 nuclear localization GR00247-A-1 9.8 DDX19B NUP62 SON
2 FOXO1 nuclear localization GR00247-A-2 9.8 DDX19B NUP62 SON
3 Increased caspase activity GR00400-S-1 9.8 NUP42 NUP62 NUP85
4 Increased caspase activity GR00400-S-2 9.8 DDX19B NUP42 NUP62 NUP85
5 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.67 NUP88
6 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.67 DDX19B NUP214 NUP88
7 Nuclear 60S biogenesis defects GR00209-A-3 9.35 GLE1 NUP160 NUP214 NUP88 RAE1
8 Increased number of mitotic cells GR00098-A-3 9.33 NXF1 NXT1 SON
9 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.02 NUP155 NUP160 NUP214 NUP62 NUP88
Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 1

About this section

Drugs for Lethal Congenital Contracture Syndrome 1 (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 1

Cochrane evidence based reviews: lethal congenital contracture syndrome 1

Sources

Genetic Tests for Lethal Congenital Contracture Syndrome 1

About this section

Genetic tests related to Lethal Congenital Contracture Syndrome 1:

# Genetic test Affiliating Genes
1 Lethal Congenital Contracture Syndrome 1 29 GLE1
Sources

Anatomical Context for Lethal Congenital Contracture Syndrome 1

About this section

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 1:

40
Skeletal Muscle, Bone, Spinal Cord
Sources

Publications for Lethal Congenital Contracture Syndrome 1

About this section

Articles related to Lethal Congenital Contracture Syndrome 1:

(show all 18)
# Title Authors PMID Year
1
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 6 57 61
18204449 2008
2
Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease. 61 6
24243016 2013
3
Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. 6
28884921 2017
4
Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. 57
22610851 2012
5
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. 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. 57
9683599 1998
7
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. 57
7897624 1995
8
Lethal congenital contracture syndrome: further delineation and genetic aspects. 57
7966188 1994
9
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. 57
3344776 1988
10
A lethal autosomal recessive syndrome of multiple congenital contractures. 57
3993672 1985
11
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. 57
6875715 1983
12
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy. 61
32537934 2020
13
A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. 61
28657126 2018
14
Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. 61
27684565 2017
15
Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo. 61
26921650 2016
16
Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. 61
25343993 2015
17
Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. 61
24275432 2014
18
A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. 61
22357925 2012
Sources

Variations for Lethal Congenital Contracture Syndrome 1

About this section

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 1:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLE1 NM_001499.2(GLE1):c.1706G>A (p.Arg569His) SNV Pathogenic 6463 rs121434407 9:131298693-131298693 9:128536414-128536414
2 GLE1 NM_001499.2(GLE1):c.433-10A>G SNV Pathogenic 6462 rs386833693 9:131284937-131284937 9:128522658-128522658
3 GLE1 NM_001499.2(GLE1):c.-45T>C SNV Uncertain significance 365130 rs372008961 9:131267040-131267040 9:128504761-128504761
4 GLE1 NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly) SNV Uncertain significance 913573 9:131267160-131267160 9:128504881-128504881
5 GLE1 NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln) SNV Uncertain significance 912488 9:131287520-131287520 9:128525241-128525241
6 GLE1 NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys) SNV Uncertain significance 912487 9:131287501-131287501 9:128525222-128525222
7 GLE1 NM_001499.2(GLE1):c.5C>G (p.Pro2Arg) SNV Uncertain significance 285426 rs150246404 9:131267089-131267089 9:128504810-128504810
8 GLE1 NM_001003722.1(GLE1):c.*782C>G SNV Uncertain significance 365144 rs886063494 9:131304231-131304231 9:128541952-128541952
9 GLE1 NM_001499.2(GLE1):c.-81C>T SNV Uncertain significance 365128 rs56214514 9:131267004-131267004 9:128504725-128504725
10 GLE1 NM_001499.2(GLE1):c.5C>G (p.Pro2Arg) SNV Uncertain significance 285426 rs150246404 9:131267089-131267089 9:128504810-128504810
11 GLE1 NM_001003722.1(GLE1):c.*111T>C SNV Uncertain significance 365137 rs567740764 9:131303560-131303560 9:128541281-128541281
12 GLE1 NM_001003722.1(GLE1):c.2028+15G>A SNV Uncertain significance 365135 rs886063490 9:131302632-131302632 9:128540353-128540353
13 GLE1 NM_001499.2(GLE1):c.749C>T (p.Ala250Val) SNV Uncertain significance 365134 rs886063489 9:131285977-131285977 9:128523698-128523698
14 GLE1 NM_001003722.1(GLE1):c.*390C>T SNV Uncertain significance 365140 rs886063491 9:131303839-131303839 9:128541560-128541560
15 GLE1 NM_001499.2(GLE1):c.321+13T>G SNV Uncertain significance 365132 rs752458769 9:131271389-131271389 9:128509110-128509110
16 GLE1 NM_001003722.1(GLE1):c.*933A>C SNV Uncertain significance 365146 rs537244282 9:131304382-131304382 9:128542103-128542103
17 GLE1 NM_001499.2(GLE1):c.-51G>A SNV Uncertain significance 365129 rs527886091 9:131267034-131267034 9:128504755-128504755
18 GLE1 NM_001003722.1(GLE1):c.*640C>T SNV Uncertain significance 365142 rs575049150 9:131304089-131304089 9:128541810-128541810
19 GLE1 NM_001499.2(GLE1):c.-84A>C SNV Uncertain significance 365127 rs886063488 9:131267001-131267001 9:128504722-128504722
20 GLE1 NM_001003722.1(GLE1):c.*708T>C SNV Uncertain significance 365143 rs886063493 9:131304157-131304157 9:128541878-128541878
21 GLE1 NM_001499.2(GLE1):c.54C>G (p.Asp18Glu) SNV Uncertain significance 365131 rs549769200 9:131267138-131267138 9:128504859-128504859
22 GLE1 NM_001499.2(GLE1):c.-108C>A SNV Uncertain significance 365126 rs545478697 9:131266977-131266977 9:128504698-128504698
23 GLE1 NM_001499.2(GLE1):c.679C>T (p.Arg227Cys) SNV Uncertain significance 284416 rs146025848 9:131285907-131285907 9:128523628-128523628
24 ERBB3 NM_001982.3(ERBB3):c.3567_3569AGA[2] (p.Glu1191del) Microsatellite Uncertain significance 522965 rs780883720 12:56495375-56495377 12:56101591-56101593
25 GLE1 NM_001003722.2(GLE1):c.-34G>A SNV Uncertain significance 912454 9:131267051-131267051 9:128504772-128504772
26 GLE1 NM_001003722.2(GLE1):c.*381C>T SNV Uncertain significance 912543 9:131303830-131303830 9:128541551-128541551
27 GLE1 NM_001003722.2(GLE1):c.*962C>T SNV Uncertain significance 912589 9:131304411-131304411 9:128542132-128542132
28 GLE1 NM_001003722.2(GLE1):c.*1002G>C SNV Uncertain significance 912590 9:131304451-131304451 9:128542172-128542172
29 GLE1 NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu) SNV Uncertain significance 913605 9:131287682-131287682 9:128525403-128525403
30 GLE1 NM_001003722.2(GLE1):c.1130-15T>C SNV Uncertain significance 913606 9:131289443-131289443 9:128527164-128527164
31 GLE1 NM_001003722.2(GLE1):c.1243-5G>A SNV Uncertain significance 706479 rs372835667 9:131289730-131289730 9:128527451-128527451
32 GLE1 NM_001003722.2(GLE1):c.*425A>G SNV Uncertain significance 913645 9:131303874-131303874 9:128541595-128541595
33 GLE1 NM_001003722.2(GLE1):c.*525C>T SNV Uncertain significance 913646 9:131303974-131303974 9:128541695-128541695
34 GLE1 NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly) SNV Uncertain significance 915198 9:131285947-131285947 9:128523668-128523668
35 GLE1 NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln) SNV Uncertain significance 915199 9:131285965-131285965 9:128523686-128523686
36 GLE1 NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu) SNV Uncertain significance 914007 9:131296138-131296138 9:128533859-128533859
37 GLE1 NM_001003722.2(GLE1):c.1882-8C>G SNV Uncertain significance 915237 9:131301887-131301887 9:128539608-128539608
38 GLE1 NM_001003722.2(GLE1):c.1964+8G>T SNV Uncertain significance 915238 9:131301985-131301985 9:128539706-128539706
39 GLE1 NM_001499.2(GLE1):c.823G>A (p.Asp275Asn) SNV Uncertain significance 256860 rs146800850 9:131286051-131286051 9:128523772-128523772
40 GLE1 NM_001003722.2(GLE1):c.643-4A>G SNV Uncertain significance 706615 rs369804957 9:131285867-131285867 9:128523588-128523588
41 GLE1 NM_001003722.2(GLE1):c.*907G>A SNV Uncertain significance 914557 9:131304356-131304356 9:128542077-128542077
42 GLE1 NM_001003722.2(GLE1):c.*618T>C SNV Uncertain significance 914050 9:131304067-131304067 9:128541788-128541788
43 GLE1 NM_001003722.2(GLE1):c.*599G>A SNV Uncertain significance 914049 9:131304048-131304048 9:128541769-128541769
44 GLE1 NM_001003722.2(GLE1):c.*536G>A SNV Uncertain significance 914048 9:131303985-131303985 9:128541706-128541706
45 GLE1 NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly) SNV Uncertain significance 914006 9:131296077-131296077 9:128533798-128533798
46 GLE1 NM_001003722.2(GLE1):c.1431A>G (p.Gln477=) SNV Uncertain significance 914005 9:131295910-131295910 9:128533631-128533631
47 GLE1 NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile) SNV Uncertain significance 914004 9:131295875-131295875 9:128533596-128533596
48 GLE1 NM_001003722.2(GLE1):c.573G>C (p.Met191Ile) SNV Uncertain significance 913957 9:131285087-131285087 9:128522808-128522808
49 GLE1 NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu) SNV Uncertain significance 913956 9:131284999-131284999 9:128522720-128522720
50 GLE1 NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr) SNV Likely benign 702330 rs138871311 9:131271171-131271171 9:128508892-128508892

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

Sources

Expression for Lethal Congenital Contracture Syndrome 1

About this section
Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 1.
Sources

Pathways for Lethal Congenital Contracture Syndrome 1

About this section

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

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.96 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
2
Innate Immune System 65
Show member pathways
 13.9 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
3
Gene Expression 65
Show member pathways
 13.74 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
4
Metabolism of proteins 65
Show member pathways
 13.68 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
5
HIV Life Cycle 65
Show member pathways
 13.65 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
6
Pathways of neurodegeneration - multiple diseases 36
Show member pathways
 13.44 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
7
Cell Cycle, Mitotic 65
Show member pathways
 13.39 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
8
Cytokine Signaling in Immune system 65
Show member pathways
 13.35 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
9
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.34 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
10
Transport of the SLBP independent Mature mRNA 65
Show member pathways
 13.23 RAE1 NXF1 NUP88 NUP85 NUP62 NUP42
11
Cellular Senescence (REACTOME) 65
Show member pathways
 13.15 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
12
mRNA Splicing - Major Pathway 65
Show member pathways
 13.14 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
13
Glycosaminoglycan metabolism 65
Show member pathways
 12.9 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
14
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.78 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
15
Mitotic Prophase 65
Show member pathways
 12.73 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
16
SUMOylation 65
Show member pathways
 12.59 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
17
Interferon gamma signaling 65
Show member pathways
 12.51 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
18
tRNA processing 65
Show member pathways
 12.35 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
19
Cellular response to heat stress 65
Show member pathways
 12.14 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
20
Transport of Mature Transcript to Cytoplasm 65
Show member pathways
 11.91 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
21
mRNA surveillance pathway 36
11.88 NXT1 NXF1 GLE1 DDX19B
22
Hexose transport 65
Show member pathways
 11.81 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
23
RNA transport 36
11.71 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
Sources

GO Terms for Lethal Congenital Contracture Syndrome 1

About this section

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.24 SON RAE1 NXT1 NXF1 NUP88 NUP85
2 nucleoplasm GO:0005654 10.14 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
3 host cell GO:0043657 9.81 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
4 nuclear membrane GO:0031965 9.73 NUP85 NUP62 NUP42 NUP35 NUP155 GLE1
5 nuclear envelope GO:0005635 9.7 RAE1 NXF1 NUP85 NUP62 NUP42 NUP35
6 nuclear pore central transport channel GO:0044613 9.5 NXT1 NUP62 NUP35
7 nuclear pore outer ring GO:0031080 9.46 NUP85 NUP160
8 nuclear pore GO:0005643 9.44 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62
9 nuclear pore cytoplasmic filaments GO:0044614 9.43 NUP214 GLE1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.22 NXT1 NXF1 NUP88 NUP85 NUP62 NUP42
2 viral process GO:0016032 10.21 RAE1 NXF1 NUP88 NUP85 NUP62 NUP42
3 regulation of cellular response to heat GO:1900034 10.11 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
4 intracellular transport of virus GO:0075733 10.09 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
5 regulation of gene silencing by miRNA GO:0060964 10.06 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
6 viral transcription GO:0019083 10.02 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
7 protein import into nucleus GO:0006606 10.01 NXT1 NUP88 NUP85 NUP62 NUP214 NUP155
8 RNA export from nucleus GO:0006405 10 RAE1 NXT1 NXF1 NUP62 NUP214 NUP155
9 nucleocytoplasmic transport GO:0006913 9.97 NXT1 NUP88 NUP85 NUP62 NUP35 NUP155
10 protein sumoylation GO:0016925 9.97 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
11 tRNA export from nucleus GO:0006409 9.91 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
12 poly(A)+ mRNA export from nucleus GO:0016973 9.85 NXF1 NUP214 GLE1 DDX19B
13 regulation of glycolytic process GO:0006110 9.81 RAE1 NUP88 NUP85 NUP62 NUP42 NUP35
14 mitotic cell cycle GO:0000278 9.78 NUP88 NUP62 NUP214
15 protein export from nucleus GO:0006611 9.73 NXT1 NUP42 NUP214
16 mRNA transport GO:0051028 9.65 NXF1 NUP88 NUP85 NUP62 NUP42 NUP35
17 regulation of mitotic spindle organization GO:0060236 9.6 RAE1 NUP62
18 nephron development GO:0072006 9.59 NUP85 NUP160
19 ribosomal small subunit export from nucleus GO:0000056 9.58 NUP88 NUP214
20 ribosomal large subunit export from nucleus GO:0000055 9.58 NUP88 NUP214
21 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.57 RAE1 NUP155
22 mRNA export from nucleus GO:0006406 9.44 RAE1 NXT1 NXF1 NUP88 NUP85 NUP62

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.06 SON RAE1 NXT1 NXF1 NUP88 NUP85
2 phospholipid binding GO:0005543 9.43 NUP62 NUP35 GLE1
3 structural constituent of nuclear pore GO:0017056 9.17 NUP88 NUP85 NUP62 NUP35 NUP214 NUP160
4 nuclear export signal receptor activity GO:0005049 8.96 NUP42 NUP214
Sources

Sources for Lethal Congenital Contracture Syndrome 1

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....