Lethal Congenital Contracture Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital musculoskeletal deformities

Other specified congenital musculoskeletal deformities

Orphanet: ⁵⁸

Rare respiratory diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:0060559

OMIM ⁵⁶ 253310

OMIM Phenotypic Series ⁵⁶ PS253310

MeSH ⁴³ C537194 D001176

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

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 Calcium 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.

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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 31)

#	Related Disease	Score	Top Affiliating Genes
1	lethal congenital contracture syndrome	32.3	RAE1 NUP155 IPPK GLE1 ERBB3 DDX19B
2	anterior horn cell disease	28.5	RAE1 NUP88 NUP85 NUP155 GLE1 DDX19B
3	leukoencephalopathy, brain calcifications, and cysts	12.0
4	cerebroretinal microangiopathy with calcifications and cysts 1	11.5
5	hepatocellular carcinoma	11.4
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	10.2
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	lethal congenital contracture syndrome 2	10.0	GLE1 ERBB3
28	congenital contractures	10.0
29	achalasia-addisonianism-alacrima syndrome	9.5	NUP35 NUP160
30	genetic steroid-resistant nephrotic syndrome	9.2	NUP93 NUP85 NUP160
31	nephrotic syndrome	9.2	NUP93 NUP85 NUP160

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

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 1

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	micrognathia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000347
4	skeletal muscle atrophy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003202
5	abnormality of the hip bone ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003272
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	polyhydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001561
10	limitation of joint mobility ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001376
11	webbed neck ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000465
12	slender long bone ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003100
13	low-set, posteriorly rotated ears ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000368
14	abnormality of the ribs ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000772
15	recurrent fractures ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002757
16	abnormality of the elbow ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009811
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	abnormality of the thorax ³¹			HP:0000765
22	hypoplasia of the musculature ³¹			HP:0009004
23	abnormality of the amniotic fluid ³¹			HP:0001560
24	widening of cervical spinal canal ³¹			HP:0004571
25	paucity of anterior horn motor neurons ³¹			HP:0007277

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

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)	GR00196-A-1	9.8	DDX19B GLE1 NUP214 NUP88 NUP93 NXF1
2	Increased caspase activity	GR00400-S-1	9.73	NUP42 NUP85
3	Increased caspase activity	GR00400-S-2	9.73	DDX19B NUP42 NUP85 NUP93
4	Decreased p24 protein expression	GR00163-A-1	9.58	NUP155 NUP160 NUP85
5	Nuclear 40S maturation defects	GR00209-A-2	9.55	NUP160 NUP214 NUP88 NUP93 RAE1
6	Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)	GR00196-A-2	9.54	DDX19B NUP214 NUP88
7	Nuclear 60S biogenesis defects	GR00209-A-3	9.43	GLE1 NUP160 NUP214 NUP88 NUP93 RAE1
8	Nucleoplasmic pre-40S maturation defects	GR00209-A-1	9.23	GLE1 NUP155 NUP160 NUP214 NUP85 NUP88

Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 1

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

(show all 11)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Calcium carbonate

Approved, Investigational

Phase 1

471-34-1

2

Calcium

Approved, Nutraceutical

Phase 1

7440-70-2

271

Synonyms:

Blood coagulation factor XIII

Ca

Ca(2+)

Ca2+

Calcio

Calcium

Calcium element

CALCIUM ion

Calcium, doubly charged positive ion

Calcium, elemental

Coagulation factor XIII

Elemental calcium

Factor XIII

Factor XIII a chain

Factor XIII a-chain

Factor XIII transamidase

Factor XIII, coagulation

Fibrin stabilizing factor

Fibrinase

Kalzium

Laki lorand factor

Laki-lorand factor

Stabilizing factor, fibrin

Transamidase, factor XIII

XIII, coagulation factor

3

Gastrointestinal Agents

Phase 1

4

Anti-Ulcer Agents

Phase 1

5

Calcium, Dietary

Phase 1

6

Antacids

Phase 1

7

Hormones

Phase 1

8

Calcium Supplement

Phase 1

9

Menthol

Approved

2216-51-5

16666

Synonyms:

(&#8722

(−)-(1R,3R,4S)-menthol

(-)-(1R,3R,4S)-Menthol

(-)-menthol

(−)-menthol

()-Menthol

(-)-Menthol

(-)-Menthyl alcohol

(-)-p-Menthan-3-ol

(-)-trans-p-Menthan-cis-ol

(-)-trans-P-Menthan-cis-ol

(+-)-(1R*,3R*,4S*)-Menthol

(+-)-Menthol

(+)-Neo-menthol

(+)-p-Menthan-3-ol

(+/-)-Menthol

(+/-)-p-Menthan-3-ol

(1a,2b,5a)-5-Methyl-2(1-methylethyl)cyclohexanol

(1alpha,2beta,5alpha)-5-methyl-2(1-methylethyl)cyclohexanol

(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol

(1R-(1-a,2-b,5-a))-5-Methyl-2-(1-methylethyl)cyclohexanol

(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol

(1R-(1-α,2-β,5-α))-5-methyl-2-(1-methylethyl)cyclohexanol

(1R)-(-)-Menthol

(1r,2s,5r)-(-)-menthol

(1R,2S,5R)-(-)-Menthol

(1R,2S,5R)-Menthol

(1R,3R,4S)-(−)-menthol

(1R,3R,4S)-(-)-Menthol

(1R,3R,4S)-(-)-MENTHOL

(1S, 2S, 5R)-(+)-Neomenthol

(1S,2R,5R)-(+)-Isomenthol

(1S,2R,5S)-(+)-Menthol

(1S,2R,5S)-Menthol

(1α,2β,5α)-5-methyl-2(1-methylethyl)cyclohexanol

(L)-MENTHOL

(R)-(-)-Menthol

)-Menthol

1490-04-6

15356-60-2

15356-70-4

15785_RIEDEL

15785_SIAL

19863P

1-Menthol

20747-49-3

2216-51-5

2-Isopropyl-5-methylcyclohexanol

3-p-Menthol

491-02-1

4-Isopropyl-1-methylcyclohexan-3-ol

551376_ALDRICH

551376_FLUKA

588733_ALDRICH

5-Methyl-2-(1-methylethyl)cyclohexanol

5-Methyl-2-(1-methylethyl)-cyclohexanol

5-methyl-2-(propan-2-yl)cyclohexanol

5-methyl-2-propan-2-ylcyclohexan-1-ol

5-Methyl-2-propan-2-ylcyclohexan-1-ol

613290_ALDRICH

613290_FLUKA

63660_FLUKA

63670_ALDRICH

63670_FLUKA

63975-60-0

6C6A4A8C-A054-468C-A1F0-F29E39838CF2

89-78-1

98167-53-4

AC1L1B2E

AC1L28FR

AC1Q1NQ2

AC1Q2QQM

AI3-08161

AI3-52408

AKOS000119740

AR-1J3337

BB_NC-0057

BRN 1902288

BRN 3194263

BSPBio_003062

C00400

C10H20O

Caswell No. 540

CCRIS 3728

CCRIS 375

CCRIS 4666

CCRIS 9231

CHEBI:15409

CHEBI:545611

CHEMBL256087

CHEMBL470670

CID1254

CID16666

cis-1 ,3-trans-1,4-(+-)-menthol

cis-1,3-trans-1,4-(+-)-menthol

D-(-)-Menthol

d,l-Menthol

D00064

D008610

D04849

D04918

DB00825

DivK1c_000820

dl-3-p-Menthanol

dl-Menthol

dl-Menthol (JP15)

d-Menthol

d-Neomenthol

D-p-Menthan-3-ol

EINECS 201-939-0

EINECS 207-724-8

EINECS 216-074-4

EINECS 218-690-9

EINECS 239-387-8

EINECS 239-388-3

EPA Pesticide Chemical Code 051601

FEMA No. 2665

Fisherman's friend lozenges

Fisherman's friend lozenges (TN)

Headache crystals

Hexahydrothymol

HMS1922G13

HMS2092L14

HMS502I22

HSDB 5662

HSDB 593

I06-1216

I14-7371

IDI1_000820

KBio1_000820

KBio2_000785

KBio2_003353

KBio2_005921

KBio3_002562

KBioSS_000785

Kerasal

l-(-)-Menthol

L-(-)-Menthol

Levomenthol

Lévomenthol

Levomenthol [INN:BAN]

Levomentholum

Levomentholum [INN-Latin]

Levomentol

l-Menthol

L-menthol

L-Menthol

l-Menthol (JP15)

l-Menthol (natural)

l-Menthol (TN)

LMPR0102090001

LS-2353

LS-57201

LS-886

LS-89531

LS-89533

M0321

M0545

M2772_SIAL

Menthacamphor

MENTHOL

--MENTHOL

Menthol (USP)

Menthol (VAN)

Menthol natural

Menthol natural, brazilian

Menthol racemic

Menthol racemique

Menthol racemique [French]

Menthol solution

Menthol, (1alpha,2beta,5alpha)-isomer

Menthol, (1alpha,2beta,5alpha)-Isomer

Menthomenthol

Menthyl alcohol

Mentol

MLS002207256

MolPort-000-849-729

MolPort-001-793-392

NCGC00159382-02

NCGC00159382-03

NCGC00164247-01

NCGC00164247-02

nchembio862-comp1

NCI-C50000

Neoisomenthol

NINDS_000820

NOOLISFMXDJSKH-KXUCPTDWBX

NSC 2603

NSC 62788

NSC2603

NSC62788

Peppermint camphor

p-Menthan-3-ol

P-Menthan-3-ol

Racementhol

Racementhol [INN:BAN]

Racementholum

Racementholum [INN-Latin]

Racementol

Racementol [INN-Spanish]

Racemic menthol

RACEMIC MENTHOL U.S.P.

rac-Menthol

Robitussin Cough Drops

SDCCGMLS-0066659.P001

SMR001306785

SPBio_000869

Spectrum_000305

SPECTRUM1503134

Spectrum2_000855

Spectrum3_001561

Spectrum5_001060

STK802468

Tra-kill tracheal mite killer

U.S.p. menthol

U.S.P. Menthol

UNII-BZ1R15MTK7

UNII-L7T10EIP3A

UNII-YS08XHA860

W266507_ALDRICH

W266523_ALDRICH

W266590_ALDRICH

WLN: L6TJ AY1&1 BQ D1

WLN: L6TJ AY1&1 DQ D1 -L

ZINC01482164

10

Dermatologic Agents

11

Antipruritics

Interventional clinical trials:

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

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

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

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

⁴⁰

Skeletal Muscle, Bone, Spinal Cord, Lung, Brain

Sources

Publications for Lethal Congenital Contracture Syndrome 1

Articles related to Lethal Congenital Contracture Syndrome 1:

(show all 17)

#	Title	Authors	PMID	Year
1	Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. ⁶¹ ⁵⁶ ⁶	Nousiainen HO...Peltonen L	18204449	2008
2	Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease. ⁶¹ ⁶	Folkmann AW...Wente SR	24243016	2013
3	Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. ⁶	Said E...Lessel D	28884921	2017
4	Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. ⁵⁶	Markus B...Birk OS	22610851	2012
5	Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland--an epidemiological study. ⁵⁶	Pakkasjarvi N...Ignatius J	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	Makela-Bengs P...Peltonen L	9683599	1998
7	Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus. ⁵⁶	Vuopala K...Peltonen L	7897624	1995
8	Lethal congenital contracture syndrome: further delineation and genetic aspects. ⁵⁶	Vuopala K...Herva R	7966188	1994
9	A syndrome of multiple congenital contractures: neuropathological analysis on five fetal cases. ⁵⁶	Herva R...Sourander P	3344776	1988
10	A lethal autosomal recessive syndrome of multiple congenital contractures. ⁵⁶	Herva R...Seppanen U	3993672	1985
11	Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy. ⁵⁶	Moerman P...Lauweryns JM	6875715	1983
12	A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss. ⁶¹	Paakkola T...Uusimaa J	28657126	2018
13	Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum. ⁶¹	Smith C...Bernier FP	27684565	2017
14	Deficiency in the mRNA export mediator Gle1 impairs Schwann cell development in the zebrafish embryo. ⁶¹	Seytanoglu A...Azzouz M	26921650	2016
15	Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. ⁶¹	Kaneb HM...Dion PA	25343993	2015
16	Insights into mRNA export-linked molecular mechanisms of human disease through a Gle1 structure-function analysis. ⁶¹	Folkmann AW...Wente SR	24275432	2014
17	A zebrafish model of lethal congenital contracture syndrome 1 reveals Gle1 function in spinal neural precursor survival and motor axon arborization. ⁶¹	Jao LE...Wente SR	22357925	2012

Sources

Genes for Lethal Congenital Contracture Syndrome 1

Genes related to Lethal Congenital Contracture Syndrome 1 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GLE1	GLE1 RNA Export Mediator	Protein Coding	1696.8	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Gene name Variants (show sections)	28884921 24243016 18204449
2	ERBB3	Erb-B2 Receptor Tyrosine Kinase 3	Protein Coding	7.73	GeneCards inferred via : Variants (show sections)
3	RAE1	Ribonucleic Acid Export 1	Protein Coding	7.51	DISEASES inferred ¹⁵
4	NUP155	Nucleoporin 155	Protein Coding	7.1	DISEASES inferred ¹⁵
5	IPPK	Inositol-Pentakisphosphate 2-Kinase	Protein Coding	7.06	DISEASES inferred ¹⁵
6	DDX19B	DEAD-Box Helicase 19B	Protein Coding	7.06	DISEASES inferred ¹⁵
7	NXF1	Nuclear RNA Export Factor 1	Protein Coding	6.58	DISEASES inferred ¹⁵
8	NUP42	Nucleoporin 42	Protein Coding	6.45	DISEASES inferred ¹⁵
9	NUP85	Nucleoporin 85	Protein Coding	6.18	DISEASES inferred ¹⁵
10	NUP214	Nucleoporin 214	Protein Coding	6.14	DISEASES inferred ¹⁵
11	NUP160	Nucleoporin 160	Protein Coding	6.08	DISEASES inferred ¹⁵
12	NUP88	Nucleoporin 88	Protein Coding	6.08	DISEASES inferred ¹⁵
13	NUP93	Nucleoporin 93	Protein Coding	5.98	DISEASES inferred ¹⁵
14	NUP35	Nucleoporin 35	Protein Coding	5.93	DISEASES inferred ¹⁵

Sources

Variations for Lethal Congenital Contracture Syndrome 1

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 1:

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	GLE1	NM_001499.2(GLE1):c.433-10A>G	SNV	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.5C>G (p.Pro2Arg)	SNV	Uncertain significance	285426	rs150246404	9:131267089-131267089	9:128504810-128504810
4	ERBB3	NM_001982.3(ERBB3):c.3567_3569AGA[2] (p.Glu1191del)	short repeat	Uncertain significance	522965	rs780883720	12:56495375-56495377	12:56101591-56101593

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

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

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Pathways for Lethal Congenital Contracture Syndrome 1

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

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.95	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
2	Innate Immune System ⁶⁵ Show member pathways Immune System ⁶⁵ Neutrophil degranulation ⁶⁵	13.88	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
3	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.71	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
4	Metabolism of proteins ⁶⁵ Show member pathways Post-translational protein modification ⁶⁵	13.66	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
5	HIV Life Cycle ⁶⁵ Show member pathways 2-LTR circle formation ⁶⁵ APOBEC3G mediated resistance to HIV-1 infection ⁶⁵ Assembly Of The HIV Virion ⁶⁵ Binding and entry of HIV virion ⁶⁵ Disease ⁶⁵ Diseases of signal transduction ⁶⁵ Early Phase of HIV Life Cycle ⁶⁵ HIV Infection ⁶⁵ Host Interactions of HIV factors ⁶⁵ Infectious disease ⁶⁵ Integration of provirus ⁶⁵ Late Phase of HIV Life Cycle ⁶⁵	13.63	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
6	Cell Cycle, Mitotic ⁶⁵ Show member pathways Cell Cycle ⁶⁵ M Phase ⁶⁵	13.37	RAE1 NUP93 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 Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	13.33	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
8	Cytokine Signaling in Immune system ⁶⁵ Show member pathways Signaling by Interleukins ⁶⁵	13.33	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
9	Transport of the SLBP independent Mature mRNA ⁶⁵ Show member pathways Activation of NIMA Kinases NEK9, NEK6, NEK7 ⁶⁵ Antiviral mechanism by IFN-stimulated genes ⁶⁵ Depolymerisation of the Nuclear Lamina ⁶⁵ Export of Viral Ribonucleoproteins from Nucleus ⁶⁵ Host Interactions with Influenza Factors ⁶⁵ Influenza Virus Induced Apoptosis ⁶⁵ Interactions of Rev with host cellular proteins ⁶⁵ Interactions of Vpr with host cellular proteins ⁶⁵ ISG15 antiviral mechanism ⁶⁵ Metabolism of non-coding RNA ⁶⁵ NEP/NS2 Interacts with the Cellular Export Machinery ⁶⁵ NS1 Mediated Effects on Host Pathways ⁶⁵ Nuclear Envelope Breakdown ⁶⁵ Nuclear import of Rev protein ⁶⁵ Nuclear Pore Complex (NPC) Disassembly ⁶⁵ Regulation of Glucokinase by Glucokinase Regulatory Protein ⁶⁵ Rev-mediated nuclear export of HIV RNA ⁶⁵ snRNP Assembly ⁶⁵ SUMOylation of DNA replication proteins ⁶⁵ SUMOylation of RNA binding proteins ⁶⁵ Transport of Mature mRNA Derived from an Intronless Transcript ⁶⁵ Transport of Mature mRNAs Derived from Intronless Transcripts ⁶⁵ Transport of Ribonucleoproteins into the Host Nucleus ⁶⁵ Transport of the SLBP Dependant Mature mRNA ⁶⁵ Viral Messenger RNA Synthesis ⁶⁵ Vpr-mediated nuclear import of PICs ⁶⁵	13.23	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
10	mRNA Splicing - Major Pathway ⁶⁵ Show member pathways mRNA Processing ¹ mRNA Splicing ⁶⁵ Processing of Capped Intron-Containing Pre-mRNA ⁶⁵ Spliceosome ³⁶	13.15	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
11	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular responses to stress ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵ Senescence-Associated Secretory Phenotype (SASP) ⁶⁵	13.14	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
12	Glycosaminoglycan metabolism ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	12.88	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
13	Influenza Viral RNA Transcription and Replication ⁶⁵ Show member pathways Influenza Infection ⁶⁵ Influenza Life Cycle ⁶⁵ vRNP Assembly ⁶⁵	12.76	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
14	Mitotic Prophase ⁶⁵ Show member pathways Gene Silencing by RNA ⁶⁵ Golgi Cisternae Pericentriolar Stack Reorganization ⁶⁵ MASTL Facilitates Mitotic Progression ⁶⁵ Small interfering RNA (siRNA) biogenesis ⁶⁵ Transcriptional regulation by small RNAs ⁶⁵	12.71	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
15	SUMOylation ⁶⁵ Show member pathways Processing and activation of SUMO ⁶⁵ SUMO E3 ligases SUMOylate target proteins ⁶⁵ SUMO is conjugated to E1 (UBA2-SAE1) ⁶⁵ SUMO is proteolytically processed ⁶⁵ SUMO is transferred from E1 to E2 (UBE2I, UBC9) ⁶⁵ SUMOylation of chromatin organization proteins ⁶⁵ SUMOylation of DNA damage response and repair proteins ⁶⁵ SUMOylation of transcription factors ⁶⁵	12.59	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
16	Interferon gamma signaling ⁶⁵ Show member pathways Interferon Signaling ⁶⁵ Regulation of IFNG signaling ⁶⁵	12.51	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
17	tRNA processing ⁶⁵ Show member pathways 7-(3-amino-3-carboxypropyl)-wyosine biosynthesis ¹ Synthesis of wybutosine at G37 of tRNA(Phe) ⁶⁵ tRNA modification in the mitochondrion ⁶⁵ tRNA modification in the nucleus and cytosol ⁶⁵ tRNA processing in the mitochondrion ⁶⁵ tRNA processing in the nucleus ⁶⁵ wybutosine biosynthesis ¹	12.35	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
18	Cellular response to heat stress ⁶⁵ Show member pathways HSF1 activation ⁶⁵ Regulation of HSF1-mediated heat shock response ⁶⁵	12.04	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
19	Hexose transport ⁶⁵ Show member pathways Glucose transport ⁶⁵	11.91	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
20	Transport of Mature Transcript to Cytoplasm ⁶⁵ Show member pathways Transport of Mature mRNA derived from an Intron-Containing Transcript ⁶⁵	11.87	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
21	RNA transport ³⁶	11.54	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42

Sources

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	nucleus	GO:0005634	10.13	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
2	nuclear envelope	GO:0005635	9.81	RAE1 NXF1 NUP93 NUP85 NUP42 NUP35
3	nuclear membrane	GO:0031965	9.8	NUP93 NUP85 NUP42 NUP35 NUP155 GLE1
4	host cell	GO:0043657	9.61	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
5	nuclear pore outer ring	GO:0031080	9.4	NUP85 NUP160
6	nuclear pore	GO:0005643	9.4	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
7	nuclear pore cytoplasmic filaments	GO:0044614	9.37	NUP214 GLE1

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

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	protein transport	GO:0015031	10.22	NXF1 NUP93 NUP88 NUP85 NUP42 NUP35
2	viral process	GO:0016032	10.19	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
3	regulation of cellular response to heat	GO:1900034	10.11	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
4	intracellular transport of virus	GO:0075733	10.09	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
5	regulation of gene silencing by miRNA	GO:0060964	10.06	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
6	viral transcription	GO:0019083	10.02	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
7	protein sumoylation	GO:0016925	9.97	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
8	protein import into nucleus	GO:0006606	9.93	NUP93 NUP88 NUP85 NUP214 NUP155
9	nucleocytoplasmic transport	GO:0006913	9.92	NUP93 NUP88 NUP85 NUP35 NUP155
10	poly(A)+ mRNA export from nucleus	GO:0016973	9.91	NXF1 NUP93 NUP214 GLE1 DDX19B
11	tRNA export from nucleus	GO:0006409	9.91	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
12	regulation of glycolytic process	GO:0006110	9.81	RAE1 NUP93 NUP88 NUP85 NUP42 NUP35
13	protein export from nucleus	GO:0006611	9.72	NUP88 NUP42 NUP214
14	mRNA transport	GO:0051028	9.7	NXF1 NUP93 NUP88 NUP85 NUP42 NUP35
15	nuclear envelope organization	GO:0006998	9.58	NUP93 NUP155
16	nephron development	GO:0072006	9.58	NUP85 NUP160
17	ribosomal small subunit export from nucleus	GO:0000056	9.57	NUP88 NUP214
18	transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	GO:0000972	9.56	RAE1 NUP155
19	mRNA export from nucleus	GO:0006406	9.4	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42

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	9.8	RAE1 NXF1 NUP93 NUP88 NUP85 NUP42
2	structural constituent of nuclear pore	GO:0017056	9.17	NUP93 NUP88 NUP85 NUP35 NUP214 NUP160
3	nuclear export signal receptor activity	GO:0005049	9.16	NUP42 NUP214

Sources

Sources for Lethal Congenital Contracture Syndrome 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Lethal Congenital Contracture Syndrome 1 (LCCS1)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 1

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

GO Terms for Lethal Congenital Contracture Syndrome 1

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

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

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

Sources for Lethal Congenital Contracture Syndrome 1