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 11 - 19 of 19 in total
Gene ID Gene Symbol Description Source
4534 MTM1 myotubularin 1
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
10585 POMT1 protein O-mannosyltransferase 1
11041 B4GAT1 beta-1,4-glucuronyltransferase 1
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
64419 MTMR14 myotubularin related protein 14
79147 FKRP fukutin related protein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 20 in total
HPO ID HPO Term
HP:0001324 Muscle weakness
HP:0003593 Infantile onset
HP:0001249 Intellectual disability
HP:0100297 Increased endomysial connective tissue
HP:0003198 Myopathy
HP:0000252 Microcephaly
HP:0003391 Gowers sign
HP:0001270 Motor delay
HP:0008064 Ichthyosis
HP:0002465 Poor speech
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

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024