Lethal Congenital Contracture Syndrome 11 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 11

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 11:

Name: Lethal Congenital Contracture Syndrome 11 ⁵⁸ ⁵⁴ ⁷⁶ ³⁰ ⁶

Lccs11 ⁵⁸ ⁵⁴ ⁷⁶

Lethal Congenital Contracture Arthrogryposis-11 ⁵⁴

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal recessive

HPO:

³³

lethal congenital contracture syndrome 11:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Respiratory diseases Neuronal diseases Bone diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 617194

MeSH ⁴⁵ D001176

MedGen ⁴³ C4310670 CN239054

SNOMED-CT via HPO ⁷⁰ 258211005 276369006 80825009

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Summaries for Lethal Congenital Contracture Syndrome 11

NIH Rare Diseases : ⁵⁴ Lethal congenitalcontracturesyndrome 11 (LCCS11) is a severe disorder characterized by congenital (present at birth) contractures. A contracture is a condition in which a joint becomes permanently fixed in a bent or straightened position, partially or completely restricting the movement of the affected joint. The condition has only being described in few people. Symptoms include flexion and extension contractures of the upper and lower limbs, very small lungs (pulmonary hypoplasia), a small and recessed lower jaw (retrognathia), bent toes and fingers (camptodactyly), and bilateral clubfoot. The disease is very severe and most affected infants die soon after birth due to respiratory complications. Ultrasound examination done during the prenatal period may show a fetus that does not move. Lethal congenital contracture arthrogryposis 11 is caused by mutations in the GLDN gene. Inheritance is autosomal recessive. Treatment is supportive and may include tracheostomy due to the respiratory problems and a feeding tube for nutrition. Lethal congenital contracture syndrome 11 is a subtype of the lethal congenital contracture syndromes, which are classified under the arthrogryposis syndromes. The term arthrogryposis is used to describe multiple congenital contractures that affect two or more different areas of the body.

MalaCards based summary : Lethal Congenital Contracture Syndrome 11, also known as lccs11, is related to lethal congenital contracture syndrome and congenital contractures. An important gene associated with Lethal Congenital Contracture Syndrome 11 is GLDN (Gliomedin). The drugs Gliclazide and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include lung, skeletal muscle and bone, and related phenotypes are retrognathia and decreased fetal movement

UniProtKB/Swiss-Prot : ⁷⁶ Lethal congenital contracture syndrome 11: 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. 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.

Description from OMIM: 617194

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Related Diseases for Lethal Congenital Contracture Syndrome 11

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

#	Related Disease	Score	Top Affiliating Genes
1	lethal congenital contracture syndrome	10.1
2	congenital contractures	10.1

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 11

Human phenotypes related to Lethal Congenital Contracture Syndrome 11:

³³

#	Description	HPO Frequency	HPO Source Accession
1	retrognathia ³³	occasional (7.5%)	HP:0000278
2	decreased fetal movement ³³		HP:0001558
3	pulmonary hypoplasia ³³		HP:0002089

Symptoms via clinical synopsis from OMIM:

⁵⁸

Respiratory Lung:
pulmonary hypoplasia

Head And Neck Face:
retrognathia (in some patients)

Skeletal Limbs:
flexion contractures of upper limbs
extension contractures of lower limbs

Prenatal Manifestations Amniotic Fluid:
marked polyhydramnios

Skeletal Hands:
flexion contractures of fingers

Prenatal Manifestations Movement:
decreased fetal movements

Neurologic Peripheral Nervous System:
reduced number of myelinated fibers (seen on transmission electron microscopy)
increased nodal length (seen on transmission electron microscopy)

Clinical features from OMIM:

617194

Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 11

Drugs for Lethal Congenital Contracture Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Gliclazide

Approved

21187-98-4

3475

Synonyms:

1-(3,3a,4,5,6,6a-hexahydro-1H-cyclopenta[c]pyrrol-2-yl)-3-(4-methylphenyl)sulfonylurea

1-(3-azabicyclo(3.3.0)oct-3-yl)-3-(p-tolylsulfonyl)urea

1-(3-azabicyclo(3.3.0)Oct-3-yl)-3-(P-tolylsulfonyl)urea

1-(3-Azabicyclo(3.3.0)oct-3-yl)-3-(p-tolylsulfonyl)urea

1-(3-azabicyclo(3.3.0)Oct-3-yl)-3-(P-tolylsulphonyl)urea

1-(3-Azabicyclo[3.3.0]oct-3-yl)-3-p-tolylsulphonylurea

1-(hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(p-tolylsulfonyl)urea

1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(p-tolylsulfonyl)urea

1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(P-tolylsulfonyl)urea

1-(Hexahydrocyclopenta(c)pyrrol-2(1H)-yl)-3-(P-tolylsulphonyl)urea

21187-98-4

AB00053165

AB1004595

AC-12045

AC1L1G0Q

AKOS003237903

Alphapharm brand OF gliclazide

Bio-0502

BPBio1_000699

BRD-A61154809-001-04-3

BRN 1657836

BSPBio_000635

BSPBio_003304

C15H21N3O3S

CHEBI:31654

CHEMBL427216

CID3475

D01599

DB01120

Diabrezide

Diaglyk

Diaikron

Diamicron

Diamicron MR

DivK1c_006966

EINECS 244-260-5

G2167_SIGMA

Gen gliclazide

Generics brand OF gliclazide

Gen-gliclazide

Genpharm brand OF gliclazide

Gliclazida

Gliclazida [INN-Spanish]

gliclazide

Gliclazide

Gliclazide (JAN/INN)

Gliclazide [BAN:INN:DCF:JAN]

Gliclazide servier brand

Gliclazidum

Gliclazidum [INN-Latin]

Gliklazid

Glimicron

Glimicron (TN)

Glyade

Glyclazide

Helsinn brand OF gliclazide

HMS1569P17

HMS1922D15

HMS2090K16

I06-0117

KBio1_001910

KBio2_001958

KBio2_004526

KBio2_007094

KBio3_002806

KBioGR_001096

KBioSS_001958

LS-160299

MLS001215197

MLS001304077

MLS001304118

MolPort-002-507-779

Mylan-Gliclazide

N-(4-Methylbenzenesulfonyl)-n'-(3-azabicyclo(3.3.0)oct-3-yl)urea

N-(4-Methylbenzenesulfonyl)-N'-(3-azabicyclo(3.3.0)oct-3-yl)urea

N-(hexahydrocyclopenta[c]pyrrol-2(1H)-ylcarbamoyl)-4-methylbenzenesulfonamide

N-[(hexahydrocyclopenta[c]pyrrol-2(1H)-ylamino)carbonyl]-4-methylbenzenesulfonamide

NCGC00095107-01

NCGC00095107-02

NCGC00095107-03

NCGC00095107-04

NCGC00095107-05

NCGC00095107-06

Nordialex

novo Gliclazide

novo-Gliclazide

Novopharm brand OF gliclazide

PMS-Gliclazide

Prestwick_869

Prestwick0_000558

Prestwick1_000558

Prestwick2_000558

Prestwick3_000558

S 1702

S 852

S-1702

S-852

SE 1702

Servier brand OF gliclazide

SMR000542971

SPBio_002556

SpecPlus_000870

Spectrum_001478

SPECTRUM1504145

SPECTRUM1505013

Spectrum3_001862

Spectrum4_000598

Spectrum5_000753

STK803142

2

Perindopril

Approved

107133-36-8, 82834-16-0

107807

Synonyms:

(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid

(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid

(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylate

(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid

(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid

82834-16-0

82834-16-0 (Parent)

99149-83-4

AC1L32S9

Aceon

ACEON

BIDD:GT0786

BRD-K92731339-227-02-3

BSPBio_003206

C07706

C19H32N2O5

CHEBI:8024

CHEMBL1581

CID107807

Coverene Cor

Coverex

Coversum

Coversyl

cpd with unspecified MF

D03753

DB00790

DW-7950

Erbumine, perindopril

ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate

KBio2_002494

KBio2_005062

KBio2_007630

KBio3_002426

KBioGR_001190

KBioSS_002502

LS-178402

McN-A-2833

MLS002154153

MolPort-005-935-307

Perindopril

PERINDOPRIL

Perindopril (USAN/INN)

Perindopril erbumine

Perindopril Erbumine

Perindoprilum

Perstarium

Pirindopril

Prestarium

S-9490

SED-9490

SMR001233453

SPBio_001216

Spectrum_001948

Spectrum2_001108

Spectrum3_001683

Spectrum4_000775

Spectrum5_001689

3

Indapamide

Approved

26807-65-8

3702

Synonyms:

1-(4-Chloro-3-sulfamoylbenzamido)-2-methylindoline

26807-65-8

3-(Aminosulfonyl)-4-chloro-N-(2,3-dihydro-2-methyl-1H-indol-1-yl)benzamide

49564-58-1

4-Chloro-N-(2-methyl-1-indolinyl)-3-sulfamoylbenzamide

4-chloro-N-(2-methyl-2,3-dihydroindol-1-yl)-3-sulfamoylbenzamide

5-20-06-00348 (Beilstein Handbook Reference)

AB00052021

AC1L1GIW

AC-2073

Apo-Indapamide

Arifon

Bajaten

Benzamide, 3-(aminosulfonyl)-4-chloro-N-(2,3-dihydro-2-methyl-1H-indol-1-yl)- (9CI)

BPBio1_000263

BRD-A95869247-001-04-6

BRN 1604026

BSPBio_000239

BSPBio_002174

CHEMBL406

CID3702

Cormil

CPD000058829

D00345

Damide

DB00808

DivK1c_000508

EINECS 248-012-7

Fludex

HMS1920F19

HMS2090M16

HMS2091N07

HMS501J10

I01-0369

I0730

I1887_FLUKA

I1887_SIGMA

Idapamide

IDI1_000508

Indaflex

Indamol

Indapamid

Indapamida

Indapamida [INN-Spanish]

indapamide

Indapamide

Indapamide (JAN/USP)

Indapamide (USP)

Indapamide [USAN:INN:BAN:JAN]

Indapamidum

Indapamidum [INN-Latin]

Ipamix

KBio1_000508

KBio2_001397

KBio2_003965

KBio2_006533

KBio3_001394

KBioGR_000393

KBioSS_001397

Lozide

Lozol

Lozol (TN)

LS-26138

Metindamide

MLS000028554

MLS001148152

MLS002222229

MolPort-003-666-209

N-(4-Chloro-3-sulfamoylbenzamido)-2-methylindoline

N-[4-Chloro-3-sulfamoylbenzamido]-2- methylindoline

Natrilix

Natrix

Natrix (TN)

NCGC00089727-02

NCGC00089727-03

NINDS_000508

NLozol, Arifon, Fludex, Noranat, Veroxil, Tertensif, Indapamide

Noranat

Novo-Indapamide

Nu-Indapamide

Pressurai

Prestwick3_000220

RHC 2555

S-1520

S1730_Selleck

SAM002564214

SE 1520

SE-1520

SMR000058829

SPBio_001019

Spectrum_000917

SPECTRUM1500349

Spectrum2_000980

Spectrum3_000467

Spectrum4_000017

Spectrum5_000866

ST51015024

Tandix

Tertensif

TL8002131

UNII-F089I0511L

USV 2555

Veroxil

4

Antihypertensive Agents

5

Hypoglycemic Agents

6

Indapamide, perindopril drug combination

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Action in Diabetes and Vascular Disease Preterax and Diamicron MR Controlled Evaluation Post Trial Observational Study	Completed	NCT00949286

Search NIH Clinical Center for Lethal Congenital Contracture Syndrome 11

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Genetic Tests for Lethal Congenital Contracture Syndrome 11

Genetic tests related to Lethal Congenital Contracture Syndrome 11:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 11 ³⁰	GLDN

Sources

Anatomical Context for Lethal Congenital Contracture Syndrome 11

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 11:

⁴²

Lung, Skeletal Muscle, Bone

Sources

Publications for Lethal Congenital Contracture Syndrome 11

Articles related to Lethal Congenital Contracture Syndrome 11:

#	Title	Authors	Year
1	Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). ( 28726266 )	Wambach JA...Steinfeld R	2017
2	Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis. ( 27616481 )	Maluenda J...Melki J	2016

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Genes for Lethal Congenital Contracture Syndrome 11

Genes related to Lethal Congenital Contracture Syndrome 11 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GLDN	Gliomedin	Protein Coding	1338.47	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications Variants (show sections)	27616481

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Variations for Lethal Congenital Contracture Syndrome 11

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 11:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	GLDN	p.Ala32Glu	VAR_078545	rs779432560
2	GLDN	p.Ala475Pro	VAR_078546	rs764239923

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 11:

⁶ (show all 14)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GLDN	NM_181789.2(GLDN): c.758delC (p.Pro253Leufs)	deletion	Pathogenic	rs886041056	GRCh37	Chromosome 15, 51689736: 51689736
2	GLDN	NM_181789.2(GLDN): c.758delC (p.Pro253Leufs)	deletion	Pathogenic	rs886041056	GRCh38	Chromosome 15, 51397539: 51397539
3	GLDN	NM_181789.3(GLDN): c.1423G> C (p.Ala475Pro)	single nucleotide variant	Pathogenic	rs764239923	GRCh38	Chromosome 15, 51404521: 51404521
4	GLDN	NM_181789.3(GLDN): c.1423G> C (p.Ala475Pro)	single nucleotide variant	Pathogenic	rs764239923	GRCh37	Chromosome 15, 51696718: 51696718
5	GLDN	NM_181789.2(GLDN): c.95C> A (p.Ala32Glu)	single nucleotide variant	Pathogenic	rs779432560	GRCh37	Chromosome 15, 51633976: 51633976
6	GLDN	NM_181789.2(GLDN): c.95C> A (p.Ala32Glu)	single nucleotide variant	Pathogenic	rs779432560	GRCh38	Chromosome 15, 51341779: 51341779
7	GLDN	NM_181789.3(GLDN): c.1240C> T (p.Arg414Ter)	single nucleotide variant	Pathogenic	rs539703340	GRCh38	Chromosome 15, 51404338: 51404338
8	GLDN	NM_181789.3(GLDN): c.1240C> T (p.Arg414Ter)	single nucleotide variant	Pathogenic	rs539703340	GRCh37	Chromosome 15, 51696535: 51696535
9	GLDN	NM_181789.2(GLDN): c.541+1G> A	single nucleotide variant	Pathogenic	rs886041057	GRCh38	Chromosome 15, 51383893: 51383893
10	GLDN	NM_181789.2(GLDN): c.541+1G> A	single nucleotide variant	Pathogenic	rs886041057	GRCh37	Chromosome 15, 51676090: 51676090
11	GLDN	NM_181789.2(GLDN): c.1435C> T (p.Arg479Ter)	single nucleotide variant	Pathogenic	rs368085516	GRCh37	Chromosome 15, 51696730: 51696730
12	GLDN	NM_181789.2(GLDN): c.1435C> T (p.Arg479Ter)	single nucleotide variant	Pathogenic	rs368085516	GRCh38	Chromosome 15, 51404533: 51404533
13	GLDN	NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775011495	GRCh37	Chromosome 15, 51696600: 51696600
14	GLDN	NM_181789.3(GLDN): c.1305G> A (p.Trp435Ter)	single nucleotide variant	Pathogenic/Likely pathogenic	rs775011495	GRCh38	Chromosome 15, 51404403: 51404403

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Expression for Lethal Congenital Contracture Syndrome 11

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 11.

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Pathways for Lethal Congenital Contracture Syndrome 11

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GO Terms for Lethal Congenital Contracture Syndrome 11

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Sources for Lethal Congenital Contracture Syndrome 11

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lethal Congenital Contracture Syndrome 11 (LCCS11)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 11

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 11:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 11

Related Diseases for Lethal Congenital Contracture Syndrome 11

Diseases in the Lethal Congenital Contracture Syndrome family:

Diseases related to Lethal Congenital Contracture Syndrome 11 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 11

Human phenotypes related to Lethal Congenital Contracture Syndrome 11:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 11

Drugs for Lethal Congenital Contracture Syndrome 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Lethal Congenital Contracture Syndrome 11

Genetic tests related to Lethal Congenital Contracture Syndrome 11:

Anatomical Context for Lethal Congenital Contracture Syndrome 11

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 11:

Publications for Lethal Congenital Contracture Syndrome 11

Articles related to Lethal Congenital Contracture Syndrome 11:

Genes for Lethal Congenital Contracture Syndrome 11

Genes related to Lethal Congenital Contracture Syndrome 11 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 11

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 11:

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 11:

Expression for Lethal Congenital Contracture Syndrome 11

Pathways for Lethal Congenital Contracture Syndrome 11

GO Terms for Lethal Congenital Contracture Syndrome 11

Sources for Lethal Congenital Contracture Syndrome 11