Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:lethal congenital glycogen storage disease of heart
go back to main search page
Accession:DOID:0090101 term browser browse the term
Definition:A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)
Synonyms:exact_synonym: fatal congenital hypertrophic cardiomyopathy due to GSD;   fatal congenital hypertrophic cardiomyopathy due to glycogenosis;   fatal congenital nonlysosomal cardiac glycogenosis;   glycogen storage disease of heart;   phosphorylase kinase deficiency of heart
 primary_id: MESH:C564888
 alt_id: OMIM:261740;   RDO:0013702
 xref: ICD10CM:E74.0+;   ICD10CM:G73.6*;   ORDO:439854
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lethal congenital glycogen storage disease of heart term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkag2 protein kinase AMP-activated non-catalytic subunit gamma 2 ISO ClinVar Annotator: match by OMIM:261740
ClinVar Annotator: match by term: Glycogen storage disease of heart, lethal congenital
ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART
OMIM
ClinVar
PMID:10355918, PMID:10368461, PMID:10820940, PMID:11407343, PMID:11748095, PMID:11827995, PMID:14519435, PMID:14696860, PMID:14722619, PMID:15611370, PMID:15673802, PMID:15877279, PMID:16487706, PMID:16836667, PMID:17483151, PMID:17667862, PMID:17711718, PMID:18403758, PMID:18811822, PMID:19808419, PMID:20005292, PMID:20031621, PMID:20381067, PMID:20888928, PMID:21409595, PMID:22555271, PMID:23778007, PMID:23829931, PMID:23992123, PMID:24033266, PMID:24503780, PMID:25611685, PMID:25741868, PMID:25997934, PMID:26085771, PMID:27189955, PMID:27532257, PMID:27573176, PMID:27621313, PMID:28341588, PMID:28431061, PMID:28492532, PMID:28498465, PMID:28546535, PMID:28690312, PMID:28771489, PMID:28917552, PMID:29121657, PMID:29247119, PMID:29298659, PMID:30311386 NCBI chr 4:6,559,153...6,799,888
Ensembl chr 4:6,559,545...6,799,632
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      cardiovascular system disease 4424
        heart disease 2667
          lethal congenital glycogen storage disease of heart 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              glycogen metabolism disorder 79
                glycogen storage disease 79
                  lethal congenital glycogen storage disease of heart 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.