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

ISO

RGD

PMID:12383920

RGD:5688132

NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395

Lama2

laminin subunit alpha 2

treatment

ISO

ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin-deficient 1A
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related
ClinVar Annotator: match by OMIM:607855

OMIM
ClinVar

PMID:0055037 PMID:1061118 PMID:2152033 PMID:7550355 PMID:8957020 PMID:9158149 PMID:9185182 PMID:9541105 PMID:9674786 PMID:9829280 PMID:10022829 PMID:10611118 PMID:10619025 PMID:10694916 PMID:10747011 PMID:10852549 PMID:11071490 PMID:11287370 PMID:11369186 PMID:11591858 PMID:11938437 PMID:12100448 PMID:12552556 PMID:12601554 PMID:16216942 PMID:17949279 PMID:18414213 PMID:18700894 PMID:19294599 PMID:19388593 PMID:20207543 PMID:21520333 PMID:21896784 PMID:21922472 PMID:21953594 PMID:22166137 PMID:22426012 PMID:22675738 PMID:23326386 PMID:23757202 PMID:23911319 PMID:24033266 PMID:24082139 PMID:24223650 PMID:24225367 PMID:24534542 PMID:24611677 PMID:24957499 PMID:25124546 PMID:25214167 PMID:25326637 PMID:25332755 PMID:25525159 PMID:25663498 PMID:25741868 PMID:26104111 PMID:26304763 PMID:26436962 PMID:26467025 PMID:26607181 PMID:26633542 PMID:27159402 PMID:27353517 PMID:27447704 PMID:27708273 PMID:27854218 PMID:27858741 PMID:27858771 PMID:27896284 PMID:27932089 PMID:28182637 PMID:28445022 PMID:28492532 PMID:28554332 PMID:28688748 PMID:28877744 PMID:29706646 PMID:30055037 PMID:30147969 PMID:30301903 PMID:30311386 PMID:30373198 PMID:30827497 PMID:32860008, PMID:28714989

RGD:13605609

NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269

St3gal3

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

ISO

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

ClinVar

PMID:25326637 PMID:25741868 PMID:28492532

NCBI chr 5:136,765,309...136,965,642
Ensembl chr 5:136,766,208...136,965,191

Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency