Details of Disease

General Information of Disease (ID: DIS8MWRB)

Disease Name Megaconial type congenital muscular dystrophy
Synonyms
muscular dystrophy, congenital, with mitochondrial structural abnormalities; megaconial congnital muscular dystrophy; MDCMC; muscular dystrophy, congenital, megaconial type; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities; megaconial type congenital muscular dystrophy; congenital megaconial myopathy; megaconial congenital muscular dystrophy
Disease Hierarchy
DIS0G6PI: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
DISKY7OY: Congenital muscular dystrophy
DIS8MWRB: Megaconial type congenital muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0011246
MESH ID
C566527
UMLS CUI
C1865233
OMIM ID
602541
MedGen ID
355943
Orphanet ID
280671
SNOMED CT ID
1230273004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHKA TT10AWB Strong Biomarker [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CHKB DEHWR6V Strong Autosomal recessive [2]
CHKB DEHWR6V Definitive Biomarker [3]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHKB OTNX5LPF Strong Autosomal recessive [2]
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References

1 Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.Hum Mol Genet. 2019 Aug 15;28(16):2635-2647. doi: 10.1093/hmg/ddz068.
2 A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. Am J Hum Genet. 2011 Jun 10;88(6):845-851. doi: 10.1016/j.ajhg.2011.05.010.
3 Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.Mitochondrion. 2019 Jul;47:24-29. doi: 10.1016/j.mito.2019.04.002. Epub 2019 Apr 12.