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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
| 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 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q12860 | Contactin-1 | |
| Q13085 | Acetyl-CoA carboxylase 1 | |
| Q8NCE2 | Myotubularin-related protein 14 | |
| Q9H9S5 | Ribitol 5-phosphate transferase FKRP | |
| Q9Y259 | Choline/ethanolamine kinase | |
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
- The Human Phenotype Ontology
| 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 |
