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MDCMC
MCID: MSC028
MIFTS: 39
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Muscular Dystrophy, Congenital, Megaconial Type (MDCMC)
Categories:
Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Muscular Dystrophy, Congenital, Megaconial Type:
Characteristics:Orphanet epidemiological data:59
megaconial congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset at birth some patients may die from cardiomyopathy in the first or second decade of life HPO:32
muscular dystrophy, congenital, megaconial type:
Onset and clinical course congenital onset slow progression Inheritance autosomal recessive inheritance mitochondrial inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
33
34
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OMIM
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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)
MalaCards based summary : Muscular Dystrophy, Congenital, Megaconial Type, also known as congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect, 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 Parkinsons Disease Pathway and Mitophagy - animal. Related phenotypes are intellectual disability and seizures Disease Ontology : 12 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. |
Diseases related to Muscular Dystrophy, Congenital, Megaconial Type via text searches within MalaCards or GeneCards Suite gene sharing:(show all 11)
Graphical network of the top 20 diseases related to Muscular Dystrophy, Congenital, Megaconial Type:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:602541Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:32 (show all 16)
UMLS symptoms related to Muscular Dystrophy, Congenital, Megaconial Type:muscle weakness, waddling gait, facial paresis GenomeRNAi Phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:26
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Articles related to Muscular Dystrophy, Congenital, Megaconial Type:
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Genes related to Muscular Dystrophy, Congenital, Megaconial Type (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:6 (show top 50) (show all 72)
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Search
GEO
for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.
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Pathways related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:
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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:(show all 23)
Molecular functions related to Muscular Dystrophy, Congenital, Megaconial Type according to GeneCards Suite gene sharing:
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