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LCCS1
MCID: LTH007
MIFTS: 53

Lethal Congenital Contracture Syndrome 1 (LCCS1)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Lethal Congenital Contracture Syndrome 1

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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 1:

Name: Lethal Congenital Contracture Syndrome 1 56 12 52 73 29 13 6 43 15 71
Multiple Contracture Syndrome, Finnish Type 56 12 52 58
Lccs1 56 12 58 73
Lethal Autosomal Recessive Syndrome of Multiple Congenital Contractures 52
Contracture Syndrome, Lethal, Congenital, Type 1 39
Lethal Congenital Contracture Syndrome Type 1 58
Multiple Contracture Syndrome Finnish Type 73
Herva Disease 58
Lccs 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Miscellaneous:
neonatal death

Inheritance:
autosomal recessive


HPO:

31
lethal congenital contracture syndrome 1:
Clinical modifier neonatal death
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Respiratory diseases Bone diseases Neuronal diseases Nephrological 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 56 253310
OMIM Phenotypic Series 56 PS253310
SNOMED-CT 67 715418007
MESH via Orphanet 44 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

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NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1486 Definition 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. 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 Calcium carbonate and Antacids 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 : 56 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)

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

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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 30)
# Related Disease Score Top Affiliating Genes
1 lethal congenital contracture syndrome 32.0 RAE1 NXF1 NUP155 IPPK GLE1 ERBB3
2 anterior horn cell disease 28.5 RAE1 NXT1 NUP88 NUP214 NUP155 GLE1
3 leukoencephalopathy, brain calcifications, and cysts 12.0
4 cerebroretinal microangiopathy with calcifications and cysts 1 11.5
5 hepatocellular carcinoma 11.5
6 congenital arthrogryposis with anterior horn cell disease 11.4
7 lung large cell carcinoma 11.4
8 leukoencephalopathy, cerebral calcifications, and cysts 11.2
9 lethal congenital contracture syndrome 3 11.2
10 lethal congenital contracture syndrome 7 11.2
11 lethal congenital contracture syndrome 8 11.2
12 lung cancer 10.1
13 ataxia and polyneuropathy, adult-onset 10.1
14 branchiootic syndrome 1 10.1
15 lung cancer susceptibility 3 10.1
16 alkuraya-kucinskas syndrome 10.1
17 distal arthrogryposis 10.1
18 spinal muscular atrophy 10.1
19 squamous cell carcinoma 10.1
20 lung benign neoplasm 10.1
21 dystonia 10.1
22 compartment syndrome 10.1
23 muscular atrophy 10.1
24 intracranial hypertension 10.1
25 spasticity 10.1
26 congenital amyoplasia 10.1
27 congenital contractures 10.0
28 lethal congenital contracture syndrome 2 9.8 SON GLE1 ERBB3
29 genetic steroid-resistant nephrotic syndrome 9.4 NUP85 NUP160
30 achalasia-addisonianism-alacrima syndrome 9.1 NUP35 NUP160 NUP155

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



Diseases related to Lethal Congenital Contracture Syndrome 1
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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 1

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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 edema 31 HP:0000969
20 abnormality of the thorax 31 HP:0000765
21 arthrogryposis multiplex congenita 31 HP:0002804
22 hypoplasia of the musculature 31 HP:0009004
23 abnormality of the amniotic fluid 31 HP:0001560
24 paucity of anterior horn motor neurons 31 HP:0007277
25 widening of cervical spinal canal 31 HP:0004571

Symptoms via clinical synopsis from OMIM:

56
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

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.16 ERBB3 NUP98 NXF1 SON
2 Decreased viability GR00221-A-2 10.16 ERBB3
3 Decreased viability GR00221-A-4 10.16 ERBB3
4 Decreased viability GR00240-S-1 10.16 NUP98 NXF1 SON
5 Decreased viability GR00249-S 10.16 NUP98 NXF1 SON
6 Decreased viability GR00301-A 10.16 ERBB3
7 Decreased viability GR00381-A-1 10.16 NXF1
8 Decreased viability GR00386-A-1 10.16 NUP98 NXF1 SON
9 Decreased viability GR00402-S-2 10.16 NUP98 NXF1 SON
10 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 9.56 NUP88
11 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 9.56 DDX19B NUP214 NUP88
12 Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers GR00195-A-3 9.54 NUP98 NXF1 SON
13 Decreased influenza A H1N1 (A/WSN/33) virus numbers GR00195-A-2 9.5 NUP98 NXF1 SON
14 Nuclear 60S biogenesis defects GR00209-A-3 9.43 GLE1 NUP160 NUP214 NUP88 NUP98 RAE1
15 Nucleoplasmic pre-40S maturation defects GR00209-A-1 9.02 NUP155 NUP160 NUP214 NUP88 NUP98
Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 1

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Drugs for Lethal Congenital Contracture Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium carbonate Approved, Investigational Phase 1 471-34-1
2 Antacids Phase 1
3 Anti-Ulcer Agents Phase 1
4 Gastrointestinal Agents Phase 1
5 Calcium Supplement Phase 1
6 Calcium, Dietary Phase 1
7
Calcium Nutraceutical Phase 1 7440-70-2 271
8
Menthol Approved 2216-51-5 16666
9 Dermatologic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Human Crossover Study to Compare the Bioavailability of Calcium From AlgaeCal® Versus a Proprietary Calcium Dietary Supplement Completed NCT01609413 Phase 1
2 Assessing Tobacco Product Choice When the Cost of Menthol Cigarettes Increases Recruiting NCT03612349
3 Addictive Potential of Little Cigars/Cigarillos in Dual Users: Effect by Flavor and Gender Suspended NCT03496077

Search NIH Clinical Center for Lethal Congenital Contracture Syndrome 1

Cochrane evidence based reviews: lethal congenital contracture syndrome 1

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Genetic Tests for Lethal Congenital Contracture Syndrome 1

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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

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

40
Skeletal Muscle, Bone, Spinal Cord
Sources

Publications for Lethal Congenital Contracture Syndrome 1

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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. 61 56 6
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. 56
22610851 2012
5
Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. 56
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. 56
9683599 1998
7
Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. 56
7897624 1995
8
Lethal congenital contracture syndrome: further delineation and genetic aspects. 56
7966188 1994
9
A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. 56
3344776 1988
10
A lethal autosomal recessive syndrome of multiple congenital contractures. 56
3993672 1985
11
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. 56
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

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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 1:

6 (show top 50) (show all 55) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GLE1 NM_001499.2(GLE1):c.433-10A>GSNV Pathogenic 6462 rs386833693 9:131284937-131284937 9:128522658-128522658
2 GLE1 NM_001499.2(GLE1):c.1706G>A (p.Arg569His)SNV Likely pathogenic 6463 rs121434407 9:131298693-131298693 9:128536414-128536414
3 GLE1 NM_001499.2(GLE1):c.1641T>C (p.Tyr547=)SNV Conflicting interpretations of pathogenicity 193820 rs77053118 9:131296225-131296225 9:128533946-128533946
4 GLE1 NM_001499.2(GLE1):c.823G>A (p.Asp275Asn)SNV Conflicting interpretations of pathogenicity 256860 rs146800850 9:131286051-131286051 9:128523772-128523772
5 GLE1 NM_001003722.2(GLE1):c.643-4A>GSNV Conflicting interpretations of pathogenicity 706615 9:131285867-131285867 9:128523588-128523588
6 GLE1 NM_001003722.2(GLE1):c.1243-5G>ASNV Conflicting interpretations of pathogenicity 706479 9:131289730-131289730 9:128527451-128527451
7 GLE1 NM_001499.2(GLE1):c.1393T>A (p.Ser465Thr)SNV Conflicting interpretations of pathogenicity 289027 rs141709685 9:131295872-131295872 9:128533593-128533593
8 GLE1 NM_001499.2(GLE1):c.-45T>CSNV Uncertain significance 365130 rs372008961 9:131267040-131267040 9:128504761-128504761
9 GLE1 NM_001003722.1(GLE1):c.*708T>CSNV Uncertain significance 365143 rs886063493 9:131304157-131304157 9:128541878-128541878
10 GLE1 NM_001003722.1(GLE1):c.*782C>GSNV Uncertain significance 365144 rs886063494 9:131304231-131304231 9:128541952-128541952
11 GLE1 NM_001499.2(GLE1):c.679C>T (p.Arg227Cys)SNV Uncertain significance 284416 rs146025848 9:131285907-131285907 9:128523628-128523628
12 GLE1 NM_001499.2(GLE1):c.5C>G (p.Pro2Arg)SNV Uncertain significance 285426 rs150246404 9:131267089-131267089 9:128504810-128504810
13 GLE1 NM_001003722.2(GLE1):c.-34G>ASNV Uncertain significance 912454 9:131267051-131267051 9:128504772-128504772
14 GLE1 NM_001003722.2(GLE1):c.76C>G (p.Arg26Gly)SNV Uncertain significance 913573 9:131267160-131267160 9:128504881-128504881
15 GLE1 NM_001003722.2(GLE1):c.485C>T (p.Ser162Leu)SNV Uncertain significance 913956 9:131284999-131284999 9:128522720-128522720
16 GLE1 NM_001003722.2(GLE1):c.573G>C (p.Met191Ile)SNV Uncertain significance 913957 9:131285087-131285087 9:128522808-128522808
17 GLE1 NM_001003722.2(GLE1):c.719A>G (p.Glu240Gly)SNV Uncertain significance 915198 9:131285947-131285947 9:128523668-128523668
18 GLE1 NM_001003722.2(GLE1):c.737G>A (p.Arg246Gln)SNV Uncertain significance 915199 9:131285965-131285965 9:128523686-128523686
19 GLE1 NM_001003722.2(GLE1):c.928G>A (p.Glu310Lys)SNV Uncertain significance 912487 9:131287501-131287501 9:128525222-128525222
20 GLE1 NM_001003722.2(GLE1):c.947G>A (p.Arg316Gln)SNV Uncertain significance 912488 9:131287520-131287520 9:128525241-128525241
21 GLE1 NM_001003722.2(GLE1):c.1109C>T (p.Pro370Leu)SNV Uncertain significance 913605 9:131287682-131287682 9:128525403-128525403
22 GLE1 NM_001003722.2(GLE1):c.1396G>A (p.Val466Ile)SNV Uncertain significance 914004 9:131295875-131295875 9:128533596-128533596
23 GLE1 NM_001003722.2(GLE1):c.1431A>G (p.Gln477=)SNV Uncertain significance 914005 9:131295910-131295910 9:128533631-128533631
24 GLE1 NM_001003722.2(GLE1):c.1493C>G (p.Ala498Gly)SNV Uncertain significance 914006 9:131296077-131296077 9:128533798-128533798
25 GLE1 NM_001003722.2(GLE1):c.1554C>A (p.Asp518Glu)SNV Uncertain significance 914007 9:131296138-131296138 9:128533859-128533859
26 GLE1 NM_001003722.2(GLE1):c.*381C>TSNV Uncertain significance 912543 9:131303830-131303830 9:128541551-128541551
27 GLE1 NM_001003722.2(GLE1):c.*425A>GSNV Uncertain significance 913645 9:131303874-131303874 9:128541595-128541595
28 GLE1 NM_001003722.2(GLE1):c.*525C>TSNV Uncertain significance 913646 9:131303974-131303974 9:128541695-128541695
29 GLE1 NM_001003722.2(GLE1):c.*536G>ASNV Uncertain significance 914048 9:131303985-131303985 9:128541706-128541706
30 GLE1 NM_001003722.2(GLE1):c.*599G>ASNV Uncertain significance 914049 9:131304048-131304048 9:128541769-128541769
31 GLE1 NM_001003722.2(GLE1):c.*618T>CSNV Uncertain significance 914050 9:131304067-131304067 9:128541788-128541788
32 GLE1 NM_001003722.2(GLE1):c.*907G>ASNV Uncertain significance 914557 9:131304356-131304356 9:128542077-128542077
33 GLE1 NM_001003722.2(GLE1):c.*962C>TSNV Uncertain significance 912589 9:131304411-131304411 9:128542132-128542132
34 GLE1 NM_001003722.2(GLE1):c.*1002G>CSNV Uncertain significance 912590 9:131304451-131304451 9:128542172-128542172
35 GLE1 NM_001003722.2(GLE1):c.1130-15T>CSNV Uncertain significance 913606 9:131289443-131289443 9:128527164-128527164
36 GLE1 NM_001003722.2(GLE1):c.1882-8C>GSNV Uncertain significance 915237 9:131301887-131301887 9:128539608-128539608
37 GLE1 NM_001003722.2(GLE1):c.1964+8G>TSNV Uncertain significance 915238 9:131301985-131301985 9:128539706-128539706
38 ERBB3 NM_001982.3(ERBB3):c.3567_3569AGA[2] (p.Glu1191del)short repeat Uncertain significance 522965 rs780883720 12:56495375-56495377 12:56101591-56101593
39 GLE1 NM_001003722.1(GLE1):c.*390C>TSNV Uncertain significance 365140 rs886063491 9:131303839-131303839 9:128541560-128541560
40 GLE1 NM_001003722.1(GLE1):c.*933A>CSNV Uncertain significance 365146 rs537244282 9:131304382-131304382 9:128542103-128542103
41 GLE1 NM_001499.2(GLE1):c.749C>T (p.Ala250Val)SNV Uncertain significance 365134 rs886063489 9:131285977-131285977 9:128523698-128523698
42 GLE1 NM_001003722.1(GLE1):c.2028+15G>ASNV Uncertain significance 365135 rs886063490 9:131302632-131302632 9:128540353-128540353
43 GLE1 NM_001003722.1(GLE1):c.*640C>TSNV Uncertain significance 365142 rs575049150 9:131304089-131304089 9:128541810-128541810
44 GLE1 NM_001499.2(GLE1):c.54C>G (p.Asp18Glu)SNV Uncertain significance 365131 rs549769200 9:131267138-131267138 9:128504859-128504859
45 GLE1 NM_001003722.1(GLE1):c.*111T>CSNV Uncertain significance 365137 rs567740764 9:131303560-131303560 9:128541281-128541281
46 GLE1 NM_001499.2(GLE1):c.321+13T>GSNV Uncertain significance 365132 rs752458769 9:131271389-131271389 9:128509110-128509110
47 GLE1 NM_001003722.2(GLE1):c.116G>A (p.Cys39Tyr)SNV Likely benign 702330 9:131271171-131271171 9:128508892-128508892
48 GLE1 NM_001499.2(GLE1):c.1000G>A (p.Glu334Lys)SNV Benign 256855 rs138310419 9:131287573-131287573 9:128525294-128525294
49 GLE1 NM_001499.2(GLE1):c.727A>G (p.Ile243Val)SNV Benign 198109 rs2275260 9:131285955-131285955 9:128523676-128523676
50 GLE1 NM_001003722.1(GLE1):c.*73G>ASNV Benign 365136 rs10760563 9:131303522-131303522 9:128541243-128541243

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

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

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

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.95 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
2
Innate Immune System 65
Show member pathways
 13.88 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
3
Gene Expression 65
Show member pathways
 13.73 RAE1 NXT1 NXF1 NUP98 NUP88 NUP85
4
Metabolism of proteins 65
Show member pathways
 13.66 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
5
HIV Life Cycle 65
Show member pathways
 13.64 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
6
Cell Cycle, Mitotic 65
Show member pathways
 13.38 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
7
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.33 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
8
Cytokine Signaling in Immune system 65
Show member pathways
 13.33 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
9
Transport of the SLBP independent Mature mRNA 65
Show member pathways
 13.23 RAE1 NXF1 NUP98 NUP88 NUP85 NUP42
10
Cellular Senescence (REACTOME) 65
Show member pathways
 13.14 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
11
mRNA Splicing - Major Pathway 65
Show member pathways
 13.14 RAE1 NXT1 NXF1 NUP98 NUP88 NUP85
12
Glycosaminoglycan metabolism 65
Show member pathways
 12.9 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
13
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.78 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
14
Mitotic Prophase 65
Show member pathways
 12.73 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
15
Measles 36
Show member pathways
 12.61 RAE1 NXT1 NXF1 NUP98
16
SUMOylation 65
Show member pathways
 12.59 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
17
Interferon gamma signaling 65
Show member pathways
 12.51 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
18
tRNA processing 65
Show member pathways
 12.35 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
19
Cellular response to heat stress 65
Show member pathways
 12.14 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
20
Transport of Mature Transcript to Cytoplasm 65
Show member pathways
 11.91 RAE1 NXT1 NXF1 NUP98 NUP88 NUP85
21
Hexose transport 65
Show member pathways
 11.81 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
22
RNA transport 36
11.62 RAE1 NXT1 NXF1 NUP98 NUP88 NUP85
Sources

GO Terms for Lethal Congenital Contracture Syndrome 1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.24 SON RAE1 NXT1 NXF1 NUP98 NUP88
2 cytosol GO:0005829 10.22 NXT1 NXF1 NUP98 NUP88 NUP85 NUP42
3 nucleoplasm GO:0005654 10.16 NXT1 NXF1 NUP98 NUP88 NUP85 NUP42
4 host cell GO:0043657 9.81 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
5 nuclear membrane GO:0031965 9.8 NUP98 NUP85 NUP42 NUP35 NUP155 GLE1
6 kinetochore GO:0000776 9.69 NUP98 NUP85 NUP160
7 nuclear envelope GO:0005635 9.65 RAE1 NXF1 NUP98 NUP85 NUP42 NUP35
8 nuclear pore outer ring GO:0031080 9.58 NUP98 NUP85 NUP160
9 nuclear pore cytoplasmic filaments GO:0044614 9.5 NUP98 NUP214 GLE1
10 nuclear pore nuclear basket GO:0044615 9.49 NUP98 NUP35
11 nuclear inclusion body GO:0042405 9.48 NXF1 NUP98
12 nuclear pore GO:0005643 9.44 RAE1 NXT1 NXF1 NUP98 NUP88 NUP85
13 nuclear pore central transport channel GO:0044613 9.43 NXT1 NUP35

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 protein transport GO:0015031 10.26 NXT1 NXF1 NUP98 NUP88 NUP85 NUP42
2 viral process GO:0016032 10.21 RAE1 NXF1 NUP98 NUP88 NUP85 NUP42
3 regulation of cellular response to heat GO:1900034 10.11 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
4 intracellular transport of virus GO:0075733 10.09 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
5 regulation of gene silencing by miRNA GO:0060964 10.06 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
6 viral transcription GO:0019083 10.02 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
7 protein import into nucleus GO:0006606 10.01 NXT1 NUP98 NUP88 NUP85 NUP214 NUP155
8 RNA export from nucleus GO:0006405 10 RAE1 NXT1 NXF1 NUP98 NUP214 NUP155
9 nucleocytoplasmic transport GO:0006913 9.97 NXT1 NUP98 NUP88 NUP85 NUP35 NUP155
10 protein sumoylation GO:0016925 9.97 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
11 tRNA export from nucleus GO:0006409 9.91 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
12 protein export from nucleus GO:0006611 9.86 NXT1 NUP88 NUP42 NUP214
13 poly(A)+ mRNA export from nucleus GO:0016973 9.85 NXF1 NUP214 GLE1 DDX19B
14 regulation of glycolytic process GO:0006110 9.81 RAE1 NUP98 NUP88 NUP85 NUP42 NUP35
15 mRNA transport GO:0051028 9.7 NXF1 NUP98 NUP88 NUP85 NUP42 NUP35
16 nephron development GO:0072006 9.6 NUP85 NUP160
17 ribosomal large subunit export from nucleus GO:0000055 9.59 NUP88 NUP214
18 nuclear pore organization GO:0006999 9.58 NUP98 NUP35
19 ribosomal small subunit export from nucleus GO:0000056 9.58 NUP88 NUP214
20 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery GO:0000972 9.57 RAE1 NUP155
21 mRNA export from nucleus GO:0006406 9.44 RAE1 NXT1 NXF1 NUP98 NUP88 NUP85

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 9.86 SON RAE1 NXT1 NXF1 NUP98 NUP88
2 RNA binding GO:0003723 9.8 SON RAE1 NXF1 NUP98 NUP42 DDX19B
3 nuclear localization sequence binding GO:0008139 9.26 NUP98 NUP214
4 structural constituent of nuclear pore GO:0017056 9.17 NUP98 NUP88 NUP85 NUP35 NUP214 NUP160
5 nuclear export signal receptor activity GO:0005049 9.16 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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
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