megaconial type congenital muscular dystrophy

Summary
Synonym
  • congenital megaconial myopathy
  • congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
  • congenital muscular dystrophy with mitochondrial structural abnormalities
  • megaconial congenital muscular dystrophy
Definition
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.
Super Class
autosomal recessive disease congenital muscular dystrophy
External Links
Disease Ontology
DOID:0110632
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 19 in total
Gene ID Gene Symbol Description Source
31 ACACA acetyl-CoA carboxylase alpha
43 ACHE acetylcholinesterase (Yt blood group)
217 ALDH2 aldehyde dehydrogenase 2 family member
952 CD38 CD38 molecule
1119 CHKA choline kinase alpha
1120 CHKB choline kinase beta
1272 CNTN1 contactin 1
2218 FKTN fukutin
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3098 HK1 hexokinase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 20 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0003236 Elevated circulating creatine kinase concentration
HP:0001250 Seizure
HP:0003677 Slowly progressive
HP:0001644 Dilated cardiomyopathy
HP:0010628 Facial palsy
HP:0001290 Generalized hypotonia
HP:0003560 Muscular dystrophy
HP:0000750 Delayed speech and language development
HP:0002515 Waddling gait
Displaying 1 entry
Gene ID Gene Symbol Description
1120 CHKB choline kinase beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024