|
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:Orphanet epidemiological data:58
megaconial congenital muscular dystrophy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive onset at birth some patients may die from cardiomyopathy in the first or second decade of life HPO:31
muscular dystrophy, congenital, megaconial type:
Inheritance autosomal recessive inheritance mitochondrial inheritance Onset and clinical course slow progression congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Muscle diseases
ICD10:
32
33
Orphanet: 58
Rare neurological diseases
Inborn errors of metabolism |
|
GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280671 Definition 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.
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 Parkinsons Disease Pathway and Synthesis of PC. Affiliated tissues include skeletal muscle, heart and skin, and related phenotypes are dilated cardiomyopathy and intellectual disability 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. 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 05-Apr-2021) UniProtKB/Swiss-Prot : 72 Muscular dystrophy, congenital, megaconial type: An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, 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. |
Human phenotypes related to Muscular Dystrophy, Congenital, Megaconial Type:31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:602541 (Updated 05-Apr-2021)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
|
|
|
MalaCards organs/tissues related to Muscular Dystrophy, Congenital, Megaconial Type:40
Skeletal Muscle,
Heart,
Skin
|
Articles related to Muscular Dystrophy, Congenital, Megaconial Type:(show all 22)
|
Genes related to Muscular Dystrophy, Congenital, Megaconial Type (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:6 (show top 50) (show all 131)
UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Congenital, Megaconial Type:72
|
|
Search
GEO
for disease gene expression data for Muscular Dystrophy, Congenital, Megaconial Type.
|
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:
|
|