congenital merosin-deficient muscular dystrophy 1A

Summary
Synonym
  • CMD1A
  • MDC1A
  • Merosin-negative congenital muscular dystrophy
  • congenital muscular dystrophy due to laminin alpha2 deficiency
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
Super Class
autosomal recessive disease congenital muscular dystrophy
External Links
Disease Ontology
DOID:0110636
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 21 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
1120 CHKB choline kinase beta
1272 CNTN1 contactin 1
1464 CSPG4 chondroitin sulfate proteoglycan 4
1634 DCN decorin
2218 FKTN fukutin
2632 GBE1 1,4-alpha-glucan branching enzyme 1

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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