LCCS4
MCID: LTH026
MIFTS: 36
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Lethal Congenital Contracture Syndrome 4 (LCCS4)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Lethal Congenital Contracture Syndrome 4:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
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' Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Respiratory diseases Bone diseases Eye diseases Nephrological diseases Muscle diseases |
UniProtKB/Swiss-Prot: 73 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 distal arthrogryposis and cardiomyopathy, familial hypertrophic, 4. An important gene associated with Lethal Congenital Contracture Syndrome 4 is MYBPC1 (Myosin Binding Protein C1), and among its related pathways/superpathways are Cardiac conduction and Striated muscle contraction pathway. Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency and skeletal muscle atrophy Disease Ontology: 11 A lethal congenital contracture syndrome that has material basis in homozygous mutation in the MYBPC1 gene on chromosome 12q23. |
Human phenotypes related to Lethal Congenital Contracture Syndrome 4:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614915 (Updated 08-Dec-2022)GenomeRNAi Phenotypes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:25
MGI Mouse Phenotypes related to Lethal Congenital Contracture Syndrome 4:45
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Organs/tissues related to Lethal Congenital Contracture Syndrome 4:
MalaCards :
Skeletal Muscle
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Articles related to Lethal Congenital Contracture Syndrome 4:
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ClinVar genetic disease variations for Lethal Congenital Contracture Syndrome 4:5 (show all 11)
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Search
GEO
for disease gene expression data for Lethal Congenital Contracture Syndrome 4.
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Cellular components related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:
Biological processes related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:
Molecular functions related to Lethal Congenital Contracture Syndrome 4 according to GeneCards Suite gene sharing:
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