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

Sources

Aliases & Classifications for Lethal Congenital Contracture Syndrome 5

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 5:

Name: Lethal Congenital Contracture Syndrome 5 ⁵⁷ ⁷⁴ ²⁹ ⁶ ⁷²

Lccs5 ⁵⁷ ⁵⁹ ⁷⁴

Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome ⁵⁹

Myopathy, Centronuclear, Lethal, Autosomal Recessive ⁵⁷

Autosomal Recessive Lethal Centronuclear Myopathy ⁷⁴

Contracture Syndrome, Lethal, Congenital, Type 5 ⁴⁰

Lethal Congenital Contracture Syndrome Type 5 ⁵⁹

Characteristics:

Orphanet epidemiological data:

⁵⁹

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

OMIM:

⁵⁷

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

Inheritance:
autosomal recessive

HPO:

³²

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

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: ³⁴

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

OMIM ⁵⁷ 615368 PS253310

MeSH ⁴⁴ D001176

ICD10 via Orphanet ³⁴ G71.2

Orphanet ⁵⁹ ORPHA363409

MedGen ⁴² C3809272 CN178709

UMLS ⁷² C3809272

Sources

Summaries for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot : ⁷⁴ 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, also known as lccs5, is related to dnm2-related intermediate charcot-marie-tooth neuropathy. An important gene associated with Lethal Congenital Contracture Syndrome 5 is DNM2 (Dynamin 2). Affiliated tissues include skeletal muscle and bone, and related phenotypes are respiratory insufficiency and flexion contracture

More information from OMIM: 615368 PS253310

Sources

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

Diseases related to Lethal Congenital Contracture Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	dnm2-related intermediate charcot-marie-tooth neuropathy	9.5	MIR6793 DNM2

Sources

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 5

Human phenotypes related to Lethal Congenital Contracture Syndrome 5:

³² (show all 13)

#	Description	HPO Source Accession
1	respiratory insufficiency ³²	HP:0002093
2	flexion contracture ³²	HP:0001371
3	generalized hypotonia ³²	HP:0001290
4	areflexia ³²	HP:0001284
5	decreased nerve conduction velocity ³²	HP:0000762
6	thin ribs ³²	HP:0000883
7	polyhydramnios ³²	HP:0001561
8	decreased fetal movement ³²	HP:0001558
9	centrally nucleated skeletal muscle fibers ³²	HP:0003687
10	retinal hemorrhage ³²	HP:0000573
11	small for gestational age ³²	HP:0001518
12	congenital contracture ³²	HP:0002803
13	elevated serum creatine kinase ³²	HP:0003236

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory insufficiency

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

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

Neurologic Peripheral Nervous System:
areflexia
decreased nerve conduction velocities

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

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

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 5

Sources

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 ²⁹	DNM2

Sources

Anatomical Context for Lethal Congenital Contracture Syndrome 5

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

⁴¹

Skeletal Muscle, Bone

Sources

Publications for Lethal Congenital Contracture Syndrome 5

Articles related to Lethal Congenital Contracture Syndrome 5:

#	Title	Authors	PMID	Year
1	Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. ⁸ ⁷¹	Koutsopoulos OS...Laporte J	23092955	2013
2	Phenotype variability and histopathological findings in patients with a novel DNM2 mutation. ³⁸	Chen S...Hong D	28971531	2018

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	1678.08	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23092955
2	MIR6793	MicroRNA 6793	RNA Gene	7.77	GeneCards inferred via : Variants (show sections)

Sources

Variations for Lethal Congenital Contracture Syndrome 5

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

⁶

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

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

⁷⁴

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

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 FMA

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

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ TGDB

⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

Diseases related to Lethal Congenital Contracture Syndrome 5 via text searches within MalaCards or GeneCards Suite gene sharing:

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

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

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

UniProtKB/Swiss-Prot 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