congenital merosin-deficient muscular dystrophy 1A - Ontology Report

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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	congenital merosin-deficient muscular dystrophy 1A	go back to main search page
Accession:	DOID:0110636	browse the term
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. (DO)
Synonyms:	exact_synonym:	CMD1A; MDC1A; congenital muscular dystrophy due to laminin alpha2 deficiency; merosin-deficient congenital muscular dystrophy; merosin-negative congenital muscular dystrophy
	broad_synonym:	congenital muscular dystrophy, LAMA2-related
	related_synonym:	LAMININ ALPHA 2-RELATED DYSTROPHY
	primary_id:	MESH:C537384
	alt_id:	OMIM:607855
	xref:	NCI:C118783; ORDO:258
For additional species annotation, visit the Alliance of Genome Resources.

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Genes (3)

congenital merosin-deficient muscular dystrophy 1A

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

BCHE

butyrylcholinesterase

NCBI chr 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481

GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

ISO

ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy

ClinVar

PMID:27854218 PMID:28492532

NCBI chr12:13,543,104...13,987,437
Ensembl chr12:13,969,387...14,388,799

LAMA2

laminin subunit alpha 2

treatment

NCBI chr 6:126,672,013...127,307,870
Ensembl chr 6:130,781,781...131,415,337

Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency