Muscular dystrophy, congenital, megaconial type

Preferred Label : Muscular dystrophy, congenital, megaconial type;

Symbol : MDCMC;

CISMeF acronym : MDCMC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muscular dystrophy, congenital, with mitochondrial structural abnormalities;

Description : This form of autosomal recessive congenital muscular dystrophy is 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta choline kinase gene (CHKB, 612395.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #602541;

Details

Origin ID

602541;

UMLS CUI

C1865233;

Automatic exact mappings (from CISMeF team)
- Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect [ICD-11 More detail]
Currated CISMeF NLP mapping
- Megaconial congenital muscular dystrophy [ORDO Disease]
- Megaconial congenital muscular dystrophy (disorder) [SNOMED CT concept]
- megaconial type congenital muscular dystrophy [DO Concept]
- muscular dystrophy, congenital, megaconial type [MeSH concept]
- muscular dystrophy, congenital, megaconial type [MeSH Supplementary Concept]
DO Cross reference
- megaconial type congenital muscular dystrophy [DO Concept]
Genes related to phenotype
- Choline kinase, beta [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Congenital muscular dystrophy [HPO term]
- Congenital onset [HPO term]
- Delayed speech and language development [HPO term]
- Dilated cardiomyopathy [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Gowers sign [HPO term]
- Ichthyosis [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Mitochondrial inheritance [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Muscular dystrophy [HPO term]
- Myopathy [HPO term]
- Neonatal hypotonia [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Slowly progressive [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Megaconial congenital muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Megaconial congenital muscular dystrophy [ORDO Disease]
- Megaconial congenital muscular dystrophy (disorder) [SNOMED CT concept]
- megaconial type congenital muscular dystrophy [DO Concept]
- muscular dystrophy, congenital, megaconial type [MeSH Supplementary Concept]
- muscular dystrophy, congenital, megaconial type [MeSH concept]

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