Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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 myopathy 1A
go back to main search page
Accession:DOID:3529 term browser browse the term
Definition:A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. (DO)
Synonyms:exact_synonym: CCD;   CCO;   CMYO1A;   CMYP1A;   Shy Magee syndrome;   central core disease;   central core disease of muscle;   central core diseases;   central core myopathies;   central core myopathy;   congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia;   congenital myopathy with cores
 narrow_synonym: CNMDU1;   Central Core Disease, Autosomal Recessive;   congenital neuromuscular disease with uniform type 1 fiber;   moderate minicore myopathy with hand involvement
 xref: EFO:1000855;   GARD:6014;   ICD10CM:G71.29;   MESH:D020512;   MIM:117000;   MONDO:0007294;   NCI:C83010;   ORDO:597
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
congenital myopathy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 PMID:38311799 NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552 		JBrowse link
G Antxr2 ANTXR cell adhesion molecule 2 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr14:11,845,774...11,986,166
Ensembl chr14:11,845,700...11,986,168 		JBrowse link
G Atp13a4 ATPase 13A4 ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 NCBI chr11:84,727,014...84,864,747
Ensembl chr11:84,731,041...84,864,747 		JBrowse link
G Cln8 CLN8, transmembrane ER and ERGIC protein ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:21990111 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr16:81,451,941...81,462,046
Ensembl chr16:81,451,944...81,461,832 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11139241 PMID:16123401 PMID:17964524 PMID:23049240 PMID:25741868 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Cyb5r3 cytochrome b5 reductase 3 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA | ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:11159544 PMID:11295830 PMID:12756024 PMID:16310381 PMID:21349748 More... NCBI chr 7:116,186,729...116,204,290
Ensembl chr 7:116,186,729...116,204,306 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:12,288,514...12,303,337
Ensembl chr10:12,293,782...12,303,333 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA ClinVar PMID:15358028 PMID:15769782 PMID:16858239 PMID:20800588 PMID:21302287 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Central core disease ClinVar PMID:25741868 PMID:27854218 PMID:28492532 NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
G Pole DNA polymerase epsilon, catalytic subunit ISO ClinVar Annotator: match by term: Central core myopathy ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27854218 PMID:28492532 NCBI chr12:52,005,155...52,053,761
Ensembl chr12:52,005,155...52,053,662 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA ClinVar PMID:18414213 PMID:21990111 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CONGENITAL MYOPATHY 1A, AUTOSOMAL DOMINANT, WITH SUSCEPTIBILITY TO MALIGNANT HYPERTHERMIA | ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy
ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core disease, autosomal recessive | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome
OMIM:117000
ClinVar Annotator: match by term: Central core disease | ClinVar Annotator: match by term: Central core disease of muscle | ClinVar Annotator: match by term: Central core myopathy | ClinVar Annotator: match by term: Shy-Magee syndrome 		CTD
ClinVar
MouseDO
OMIM		 PMID:12434 PMID:16940 PMID:18253 PMID:1069529 PMID:1256913 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
Congenital Neuromuscular Disease, with Uniform Type 1 Fiber term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Neuromuscular disease, congenital, with uniform type 1 fiber ClinVar PMID:9536098 PMID:10888602 PMID:12719381 PMID:14732627 PMID:15731587 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal dominant disease 6057
                congenital myopathy 1A 12
                  Chudley-Rozdilsky Syndrome 0
                  Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
                  Moderate Minicore Myopathy, with Hand Involvement 0
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    congenital myopathy 252
                      congenital myopathy 1A 12
                        Chudley-Rozdilsky Syndrome 0
                        Congenital Neuromuscular Disease, with Uniform Type 1 Fiber 1
                        Moderate Minicore Myopathy, with Hand Involvement 0
paths to the root