Lethal Congenital Contracture Syndrome 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 5

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:

Name: Lethal Congenital Contracture Syndrome 5 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Lccs5 ⁵⁸ ⁶⁰ ⁷⁶

Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome ⁶⁰

Myopathy, Centronuclear, Lethal, Autosomal Recessive ⁵⁸

Autosomal Recessive Lethal Centronuclear Myopathy ⁷⁶

Contracture Syndrome, Lethal, Congenital, Type 5 ⁴¹

Lethal Congenital Contracture Syndrome Type 5 ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

fetal akinesia-cerebral and retinal hemorrhage syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Miscellaneous:
death in infancy
onset in utero
one family has been reported (last curated august 2013)

Inheritance:
autosomal recessive

HPO:

³³

lethal congenital contracture syndrome 5:
Clinical modifier death in infancy
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

OMIM ⁵⁸ 615368

MeSH ⁴⁵ D001176

ICD10 via Orphanet ³⁵ G71.2

Orphanet ⁶⁰ ORPHA363409

MedGen ⁴³ C3809272 CN178709

SNOMED-CT via HPO ⁷⁰ 203598005 249697003 258211005 more

UMLS ⁷⁴ C3809272

Sources

Summaries for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot : ⁷⁶ Lethal congenital contracture syndrome 5: 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.

MalaCards based summary : Lethal Congenital Contracture Syndrome 5, is also known as lccs5. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). The drugs Gliclazide and Perindopril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and flexion contracture

Description from OMIM: 615368

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Related Diseases for Lethal Congenital Contracture Syndrome 5

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

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Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 5

Human phenotypes related to Lethal Congenital Contracture Syndrome 5:

³³ (show all 13)

#	Description	HPO Source Accession
1	respiratory insufficiency ³³	HP:0002093
2	flexion contracture ³³	HP:0001371
3	decreased nerve conduction velocity ³³	HP:0000762
4	thin ribs ³³	HP:0000883
5	polyhydramnios ³³	HP:0001561
6	areflexia ³³	HP:0001284
7	decreased fetal movement ³³	HP:0001558
8	generalized hypotonia ³³	HP:0001290
9	centrally nucleated skeletal muscle fibers ³³	HP:0003687
10	retinal hemorrhage ³³	HP:0000573
11	small for gestational age ³³	HP:0001518
12	congenital contracture ³³	HP:0002803
13	elevated serum creatine kinase ³³	HP:0003236

Symptoms via clinical synopsis from OMIM:

⁵⁸

Respiratory:
respiratory insufficiency

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
retinal hemorrhage

Skeletal:
joint contractures
thin bones

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
intracranial bleeding
lack of spontaneous movement

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Neurologic Peripheral Nervous System:
areflexia
decreased nerve conduction velocities

Muscle Soft Tissue:
hypotonia
centralized nuclei
muscle biopsy shows atrophic fibers
small rounded fibers
emg may show myopathic features

Growth Other:
low birth weight

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM:

615368

Sources

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 5

Drugs for Lethal Congenital Contracture Syndrome 5 (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 5

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Genetic Tests for Lethal Congenital Contracture Syndrome 5

Genetic tests related to Lethal Congenital Contracture Syndrome 5:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 5 ³⁰	DNM2

Sources

Anatomical Context for Lethal Congenital Contracture Syndrome 5

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 5:

⁴²

Skeletal Muscle, Bone

Sources

Publications for Lethal Congenital Contracture Syndrome 5

Articles related to Lethal Congenital Contracture Syndrome 5:

#	Title	Authors	Year
1	Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. ( 23092955 )	Koutsopoulos OS...Laporte J	2013

Sources

Genes for Lethal Congenital Contracture Syndrome 5

Genes related to Lethal Congenital Contracture Syndrome 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DNM2	Dynamin 2	Protein Coding	1677.77	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	23092955

Sources

Variations for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 5:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	DNM2	p.Phe379Val	VAR_070163	rs397514735

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	DNM2	NM_001005360.2(DNM2): c.1135T> G (p.Phe379Val)	single nucleotide variant	Pathogenic	rs397514735	GRCh37	Chromosome 19, 10906054: 10906054
2	DNM2	NM_001005360.2(DNM2): c.1135T> G (p.Phe379Val)	single nucleotide variant	Pathogenic	rs397514735	GRCh38	Chromosome 19, 10795378: 10795378
3	DNM2	NM_001005360.2(DNM2): c.2179C> T (p.His727Tyr)	single nucleotide variant	Uncertain significance	rs142963320	GRCh37	Chromosome 19, 10939832: 10939832
4	DNM2	NM_001005360.2(DNM2): c.2179C> T (p.His727Tyr)	single nucleotide variant	Uncertain significance	rs142963320	GRCh38	Chromosome 19, 10829156: 10829156
5	DNM2	NM_001005360.2(DNM2): c.197G> A (p.Arg66Gln)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 19, 10870449: 10870449
6	DNM2	NM_001005360.2(DNM2): c.197G> A (p.Arg66Gln)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 19, 10759773: 10759773

Sources

Expression for Lethal Congenital Contracture Syndrome 5

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 5.

Sources

Pathways for Lethal Congenital Contracture Syndrome 5

Sources

GO Terms for Lethal Congenital Contracture Syndrome 5

Sources

Sources for Lethal Congenital Contracture Syndrome 5

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Lethal Congenital Contracture Syndrome 5 (LCCS5)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 5

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 5

Related Diseases for Lethal Congenital Contracture Syndrome 5

Diseases in the Lethal Congenital Contracture Syndrome family:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 5

Human phenotypes related to Lethal Congenital Contracture Syndrome 5:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 5

Drugs for Lethal Congenital Contracture Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Lethal Congenital Contracture Syndrome 5

Genetic tests related to Lethal Congenital Contracture Syndrome 5:

Anatomical Context for Lethal Congenital Contracture Syndrome 5

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 5:

Publications for Lethal Congenital Contracture Syndrome 5

Articles related to Lethal Congenital Contracture Syndrome 5:

Genes for Lethal Congenital Contracture Syndrome 5

Genes related to Lethal Congenital Contracture Syndrome 5 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Lethal Congenital Contracture Syndrome 5:

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

Expression for Lethal Congenital Contracture Syndrome 5

Pathways for Lethal Congenital Contracture Syndrome 5

GO Terms for Lethal Congenital Contracture Syndrome 5

Sources for Lethal Congenital Contracture Syndrome 5