|
MDCMC
MCID: MSC028
MIFTS: 45
|
Muscular Dystrophy, Congenital, Megaconial Type (MDCMC)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
|
|
|
|
||
MalaCards integrated aliases for Muscular Dystrophy, Congenital, Megaconial Type:
Characteristics:Inheritance:
Muscular Dystrophy, Congenital, Megaconial Type:
Autosomal recessive 57
Megaconial Congenital Muscular Dystrophy:
Autosomal recessive 58
Prevelance:
Megaconial Congenital Muscular Dystrophy:
<1/1000000 (Worldwide) 58
Age Of Onset:
Megaconial Congenital Muscular Dystrophy:
Infancy,Neonatal 58
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
slowly progressive onset at birth some patients may die from cardiomyopathy in the first or second decade of life HPO:30Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
31
32
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
|
UniProtKB/Swiss-Prot: 73 An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. MalaCards based summary: Muscular Dystrophy, Congenital, Megaconial Type, also known as megaconial type congenital muscular dystrophy, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy, and has symptoms including muscle weakness, waddling gait and facial paresis. An important gene associated with Muscular Dystrophy, Congenital, Megaconial Type is CHKB (Choline Kinase Beta), and among its related pathways/superpathways are Glycerophospholipid biosynthesis and Synthesis of PC. Affiliated tissues include skeletal muscle, heart and skin, and related phenotypes are dilated cardiomyopathy and intellectual disability GARD: 19 A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers. Orphanet: 58 A rare, genetic, skeletal muscle disease characterized by an early-onset hypotonia, muscle weakness, global developmental delay with intellectual disability, and cardiomyopathy. Congenital structural heart defects and ichthyosiform cutaneous lesions have also been associated. Muscle biopsy shows characteristic enlarged mitochondria located at the periphery of muscle fibers. OMIM®: 57 Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011). (602541) (Updated 08-Dec-2022) Disease Ontology: 11 A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has material basis in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. |
Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:30 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:602541 (Updated 08-Dec-2022)UMLS symptoms related to Muscular Dystrophy, Congenital, Megaconial Type:muscle weakness; waddling gait; facial paresis |
|
|
Organs/tissues related to Muscular Dystrophy, Congenital, Megaconial Type:
MalaCards :
Skeletal Muscle,
Heart,
Skin
|
Articles related to Muscular Dystrophy, Congenital, Megaconial Type:(show all 27)
|
Genes related to Muscular Dystrophy, Congenital, Megaconial Type (2 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:5 (show top 50) (show all 234)
UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:73
|
|
Search
GEO
for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.
|
Cellular components related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:
Biological processes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:
Molecular functions related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:
|
|