| Field | Disease-specific / extrapolated | Knowledge-base-ready summary | Suggested ontology terms | Evidence |
|---|---|---|---|---|
| Canonical name | Disease-specific | Hypertrophic cardiomyopathy 30, atrial; also represented as cardiomyopathy, familial hypertrophic, 30, atrial | MONDO:0958241 | (pqac-00000000) |
| MONDO ID | Disease-specific | MONDO:0958241 | MONDO:0958241 | (pqac-00000000) |
| Causal gene / protein | Disease-specific | CORIN encodes corin, a cardiac transmembrane serine protease involved in natriuretic peptide activation | Gene: CORIN; Protein: corin, serine peptidase | (pqac-00000000, pqac-00000006) |
| Key disease-specific evidence | Disease-specific | Open Targets links MONDO:0958241 to CORIN with literature support including PMID 37913506 and ClinVar submissions; exact family-level variant and pedigree details were not accessible in the retrieved text and should be curated directly from the primary report/ClinVar before database finalization | Disease entity to gene association | (pqac-00000000) |
| Inheritance / penetrance | Disease-specific | Familial/inherited disease label supports Mendelian inheritance, but exact mode of inheritance, penetrance, and expressivity could not be verified from accessible full-text evidence; record as unknown pending direct review of PMID 37913506/ClinVar | Inheritance: unknown; Penetrance: unknown; Expressivity: unknown | (pqac-00000000) |
| Core phenotypes | Disease-specific | Left atrial cardiomyopathy/atrial remodeling with arrhythmia, hypertension, and fibrosis are implicated by the disease association and title-level evidence; exact frequencies and ventricular involvement remain incompletely accessible | HPO label suggestions: atrial arrhythmia, atrial fibrillation, cardiac fibrosis, hypertension, cardiomyopathy, abnormality of the left atrium | (pqac-00000000) |
| Mechanism | Disease-specific with strong support from related CORIN biology | CORIN deficiency impairs conversion of pro-ANP to ANP, lowering downstream cGMP signaling and permitting maladaptive RAAS activation, sodium-retention/pressure-load effects, hypertrophy, fibrosis, and heart failure progression; direct atrial-human mechanism is plausible but incompletely resolved for this named disease | GO label suggestions: atrial natriuretic peptide processing, cGMP-mediated signaling, regulation of blood pressure, negative regulation of cardiac muscle hypertrophy, extracellular matrix organization, cardiac muscle fibrosis | (pqac-00000001, pqac-00000002, pqac-00000006) |
| Anatomy / cell types / subcellular localization | Mixed: disease-specific cardiac focus; mechanistic details from related CORIN studies | Primary anatomy: heart, especially left atrium; likely secondary involvement via hypertension/heart failure. Cell types: cardiomyocytes, cardiac fibroblasts. Subcellular/localization: plasma membrane/cell surface for corin; extracellular space for ANP signaling | UBERON label suggestions: heart, left atrium, myocardium; CL label suggestions: cardiomyocyte, cardiac fibroblast; GO-CC label suggestions: plasma membrane, cell surface, extracellular region | (pqac-00000004, pqac-00000006) |
| Diagnostic approach | Mostly extrapolated from general HCM/cardiomyopathy practice; gene-specific confirmation is disease-specific | For suspected cases: cardiac phenotyping with ECG/rhythm monitoring, echocardiography, consider CMR, blood pressure assessment, family history, and molecular testing including CORIN within cardiomyopathy/arrhythmia panels or exome/genome approaches if panel-negative; cascade testing depends on confirmation of a pathogenic familial variant | HPO label suggestions relevant to workup: atrial fibrillation, cardiomyopathy, hypertension | (pqac-00000000) |
| Management evidence status | Mostly extrapolated from general HCM/atrial cardiomyopathy; no disease-specific treatment trials identified | No disease-specific therapy established from accessible evidence. Management should currently follow phenotype-directed care for HCM/atrial arrhythmia/hypertension/heart failure, while noting experimental rationale for restoring corin/ANP signaling from animal studies. Emerging general HCM therapies such as myosin inhibitors are not validated for CORIN-mediated atrial disease specifically | NCIT label suggestions: genetic counseling, electrocardiographic monitoring, echocardiography, cardiac MRI, antiarrhythmic therapy, anticoagulation, antihypertensive therapy | (pqac-00000002, pqac-00000006) |
| Epidemiology | Disease-specific | Ultra-rare; no prevalence or incidence estimates were recovered for this named entity from accessible evidence | Rare disease | (pqac-00000000) |
| Animal / experimental models | Related CORIN biology, not exact human atrial disease replica | Corin knockout mice develop salt-sensitive hypertension and progressive cardiac dysfunction, hypertrophy, and fibrosis after aging; pressure-overload (TAC) accelerates dysfunction in young KO mice; recombinant soluble corin ameliorates dysfunction, fibrosis, hypertrophy markers, RAAS activation, and lung edema. Fibroblast studies show CORIN overexpression can blunt profibrotic activation | GO label suggestions: response to pressure overload, regulation of cardiac muscle hypertrophy, fibrosis, fibroblast activation; CL: cardiac fibroblast | (pqac-00000002, pqac-00000004, pqac-00000006) |
| Major evidence gaps | Disease-specific | Missing or inaccessible in retrieved evidence: exact pathogenic variant(s), ACMG classification, segregation data, patient counts, age/sex distribution, penetrance, quantitative phenotype frequencies, natural history, prognosis, and whether ventricular hypertrophy is obligatory or secondary. These should be abstracted directly from PMID 37913506, ClinVar records, and any follow-up correspondence before structured curation | Evidence gap annotation | (pqac-00000000) |


*Table: This table condenses the currently recoverable knowledge-base-ready facts for Hypertrophic Cardiomyopathy 30, Atrial and clearly separates disease-specific evidence from inferences based on broader CORIN biology and general HCM practice.*