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MCID: LTH026
MIFTS: 20
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Lethal Congenital Contracture Syndrome 4
Categories:
Genetic diseases, Rare diseases, Respiratory diseases, Fetal diseases, Neuronal diseases, Bone diseases
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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
clinical details not provided beyond a statement that the phenotype is 'identical to that of lccs3' death due to respiratory insufficiency within minutes to hours after birth HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Respiratory diseases Neuronal diseases Bone diseases |
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UniProtKB/Swiss-Prot
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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, also known as lccs4, is related to lethal congenital contracture syndrome and congenital contractures. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C, Slow Type). Affiliated tissues include skeletal muscle, 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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Diseases in the Lethal Congenital Contracture Syndrome family:Diseases related to Lethal Congenital Contracture Syndrome 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:614915Human phenotypes related to Lethal Congenital Contracture Syndrome 4:32
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MalaCards organs/tissues related to Lethal Congenital Contracture Syndrome 4:41
Skeletal Muscle
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Genes related to Lethal Congenital Contracture Syndrome 4 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:6
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 4.
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