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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 |
|---|---|---|---|
| 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 |
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 |
