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 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Lccs5 ⁵⁶ ⁵⁸ ⁷³

Fetal Akinesia-Cerebral and Retinal Hemorrhage Syndrome ⁵⁸

Myopathy, Centronuclear, Lethal, Autosomal Recessive ⁵⁶

Autosomal Recessive Lethal Centronuclear Myopathy ⁷³

Contracture Syndrome, Lethal, Congenital, Type 5 ³⁹

Lethal Congenital Contracture Syndrome Type 5 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

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

Inheritance:
autosomal recessive

HPO:

³¹

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: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Congenital myopathies

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

OMIM ⁵⁶ 615368

OMIM Phenotypic Series ⁵⁶ PS253310

MeSH ⁴³ D001176

ICD10 via Orphanet ³³ G71.2

Orphanet ⁵⁸ ORPHA363409

MedGen ⁴¹ C3809272 CN178709

SNOMED-CT via HPO ⁶⁸ 203598005 249697003 258211005 more

UMLS ⁷¹ C3809272

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Summaries for Lethal Congenital Contracture Syndrome 5

UniProtKB/Swiss-Prot : ⁷³ 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). Affiliated tissues include skeletal muscle and bone, and related phenotypes are flexion contracture and elevated serum creatine kinase

More information from OMIM: 615368 PS253310

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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:

³¹ (show all 13)

#	Description	HPO Source Accession
1	flexion contracture ³¹	HP:0001371
2	elevated serum creatine kinase ³¹	HP:0003236
3	decreased nerve conduction velocity ³¹	HP:0000762
4	respiratory insufficiency ³¹	HP:0002093
5	polyhydramnios ³¹	HP:0001561
6	areflexia ³¹	HP:0001284
7	decreased fetal movement ³¹	HP:0001558
8	retinal hemorrhage ³¹	HP:0000573
9	thin ribs ³¹	HP:0000883
10	small for gestational age ³¹	HP:0001518
11	generalized hypotonia ³¹	HP:0001290
12	congenital contracture ³¹	HP:0002803
13	centrally nucleated skeletal muscle fibers ³¹	HP:0003687

Symptoms via clinical synopsis from OMIM:

⁵⁶

Respiratory:
respiratory insufficiency

Neurologic Peripheral Nervous System:
areflexia
decreased nerve conduction velocities

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs

Skeletal:
joint contractures
thin bones

Laboratory Abnormalities:
increased serum creatine kinase

Neurologic Central Nervous System:
intracranial bleeding
lack of spontaneous movement

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
retinal hemorrhage

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

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 5

Search Clinical Trials , 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 ²⁹	DNM2

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Anatomical Context for Lethal Congenital Contracture Syndrome 5

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

⁴⁰

Skeletal Muscle, Bone

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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. ⁶ ⁵⁶	Koutsopoulos OS...Laporte J	23092955	2013
2	Phenotype variability and histopathological findings in patients with a novel DNM2 mutation. ⁶¹	Chen S...Hong D	28971531	2018

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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	1667.8	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	23092955

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Variations for Lethal Congenital Contracture Syndrome 5

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 5:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DNM2	NM_004945.3(DNM2):c.1135T>G (p.Phe379Val)	SNV	Pathogenic	60688	rs397514735	19:10906054-10906054	19:10795378-10795378
2	DNM2	NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)	SNV	Conflicting interpretations of pathogenicity	327987	rs142963320	19:10939832-10939832	19:10829156-10829156
3	DNM2	NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)	SNV	Uncertain significance	562194	rs1568283807	19:10870449-10870449	19:10759773-10759773

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

⁷³

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

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Expression for Lethal Congenital Contracture Syndrome 5

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

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Pathways for Lethal Congenital Contracture Syndrome 5

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GO Terms for Lethal Congenital Contracture Syndrome 5

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Sources for Lethal Congenital Contracture Syndrome 5

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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

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