Myopathy, Central Core
Disease ID: disease_node_10605
Connections displayed (default: 10).
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| Dbxref | GARD:6014, ICD10CM:G71.29, MESH:D020512, MIM:117000, NCI:C83010, ORDO:597, SNOMEDCT_US_2023_03_01:43152001, UMLS_CUI:C0751951 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_0081337 |
| Data Source | DOID, MESH |
| Synonyms | central core disease, central core myopathy |
| Mesh Id | D020512 |
| Mesh Label | Myopathy, Central Core |
| Mesh Subclassof | D020914 |
| Doid Label | congenital myopathy 1A |
| Doid Description | 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 maligt 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_10605 |
| Doid Id | DOID_3529 |
| Label | Myopathy, Central Core |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Congenital Myopathy(ID:disease_node_18926) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)