Lethal Congenital Contracture Syndrome 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Name: Lethal Congenital Contracture Syndrome 4 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Lccs4 ⁵⁷ ⁷⁵

Contracture Syndrome, Lethal, Congenital, Type 4 ⁴⁰

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

Miscellaneous:
death due to respiratory insufficiency within minutes to hours after birth
clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3'

HPO:

³²

lethal congenital contracture syndrome 4:
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 ⁵⁷ 614915

Disease Ontology ¹² DOID:0060654

MedGen ⁴² C3554046 CN160485

MeSH ⁴⁴ D001176

SNOMED-CT via HPO ⁶⁹ 258211005 74035001 24269006

UMLS ⁷³ C3554046

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Summaries for Lethal Congenital Contracture Syndrome 4

UniProtKB/Swiss-Prot : ⁷⁵ Lethal congenital contracture syndrome 4: 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 4, is also known as lccs4. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C, Slow Type). Affiliated tissues include skeletal muscle and bone, and related phenotypes are skeletal muscle atrophy and distal arthrogryposis

Disease Ontology : ¹² A lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23.

Description from OMIM: 614915

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Related Diseases for Lethal Congenital Contracture Syndrome 4

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 4

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory:
respiratory insufficiency at birth, lethal

Muscle Soft Tissue:
muscle wasting, severe, primarily in the legs
muscle atrophy, primarily in the legs

Skeletal Limbs:
severe multiple joint contractures

Clinical features from OMIM:

614915

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

³²

#	Description	HPO Frequency	HPO Source Accession
1	skeletal muscle atrophy ³²		HP:0003202
2	distal arthrogryposis ³²		HP:0005684

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Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 4

Search Clinical Trials , NIH Clinical Center for Lethal Congenital Contracture Syndrome 4

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Genetic Tests for Lethal Congenital Contracture Syndrome 4

Genetic tests related to Lethal Congenital Contracture Syndrome 4:

#	Genetic test	Affiliating Genes
1	Lethal Congenital Contracture Syndrome 4 ²⁹	MYBPC1

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Anatomical Context for Lethal Congenital Contracture Syndrome 4

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 4:

⁴¹

Skeletal Muscle, Bone

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Publications for Lethal Congenital Contracture Syndrome 4

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Genes for Lethal Congenital Contracture Syndrome 4

Genes related to Lethal Congenital Contracture Syndrome 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYBPC1	Myosin Binding Protein C, Slow Type	Protein Coding	1027.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	22610851

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Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MYBPC1	NM_002465.3(MYBPC1): c.952C> T (p.Arg318Ter)	single nucleotide variant	Pathogenic	rs397515422	GRCh37	Chromosome 12, 102038561: 102038561
2	MYBPC1	NM_002465.3(MYBPC1): c.952C> T (p.Arg318Ter)	single nucleotide variant	Pathogenic	rs397515422	GRCh38	Chromosome 12, 101644783: 101644783

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Expression for Lethal Congenital Contracture Syndrome 4

Search GEO for disease gene expression data for Lethal Congenital Contracture Syndrome 4.

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Pathways for Lethal Congenital Contracture Syndrome 4

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GO Terms for Lethal Congenital Contracture Syndrome 4

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Sources for Lethal Congenital Contracture Syndrome 4

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Lethal Congenital Contracture Syndrome 4 (LCCS4)

Aliases & Classifications for Lethal Congenital Contracture Syndrome 4

MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Lethal Congenital Contracture Syndrome 4

Related Diseases for Lethal Congenital Contracture Syndrome 4

Diseases in the Lethal Congenital Contracture Syndrome family:

Symptoms & Phenotypes for Lethal Congenital Contracture Syndrome 4

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Lethal Congenital Contracture Syndrome 4:

Drugs & Therapeutics for Lethal Congenital Contracture Syndrome 4

Genetic Tests for Lethal Congenital Contracture Syndrome 4

Genetic tests related to Lethal Congenital Contracture Syndrome 4:

Anatomical Context for Lethal Congenital Contracture Syndrome 4

MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 4:

Publications for Lethal Congenital Contracture Syndrome 4

Genes for Lethal Congenital Contracture Syndrome 4

Genes related to Lethal Congenital Contracture Syndrome 4 (1 elite genes):

Variations for Lethal Congenital Contracture Syndrome 4

ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:

Expression for Lethal Congenital Contracture Syndrome 4

Pathways for Lethal Congenital Contracture Syndrome 4

GO Terms for Lethal Congenital Contracture Syndrome 4

Sources for Lethal Congenital Contracture Syndrome 4