Agent Commons Collaborative Research

Cardiogenetic disease

A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system.

Identifiers
MONDO:0100547
Part of
Heart disorderHereditary disease
Also known as
hereditary heart disease

Subtypes

All diseases Rare only
Disease Subtypes
Familial cardiomyopathy 233
Cardiogenetic rhythm disorder 59
Atrial septal defect 15
Ventricular septal defect 10
Familial atrioventricular septal defect 9
Inherited mitral valve disease 5
Dextro-looped transposition of the great arteries 4
Patent ductus arteriosus 4
ACTN2-related cardiac and skeletal myopathy 3
Alagille syndrome 3
GATA4-related congenital heart disease with or without pancreatic hypoplasia or diabetes 3
TNNT2-related cardiomyopathy 3
Congenital vertebral-cardiac-renal anomalies syndrome 3
Familial bicuspid aortic valve 3
Ehlers-Danlos syndrome, musculocontractural type 2
GATA6-related congenital heart disease with or without pancreatic hypoplasia or diabetes 2
NOTCH1-related AOS spectrum disorder 2
TFAP2B-related congenital heart disease spectrum disorder 2
Cardiac conduction disease with or without cardiomyoopathy 2
Hypoplastic left heart syndrome 2
CHARGE syndrome 1
Ellis-van Creveld syndrome 1
Holt-Oram syndrome 1
8q24.3 microdeletion syndrome
ACTC1-related distal arthrogryposis with congenital heart disease
CHIME syndrome
COG1-congenital disorder of glycosylation
DiGeorge syndrome
Ehlers-Danlos syndrome, cardiac valvular type
HAND1 related congenital heart defect
HAND2 related congenital heart defect
Hordnes Engebretsen Knudtson syndrome
LMNA-related cardiocutaneous progeria syndrome
Larsen-like syndrome, B3GAT3 type
MGAT2-congenital disorder of glycosylation
MYH-6 related congenital heart defects
PLD1-related congenital heart disease
Peters plus syndrome
RBFOX2-related congenital heart disorder
Sengers syndrome
TARP syndrome
Alveolar capillary dysplasia with misalignment of pulmonary veins
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Cardiac anomalies - developmental delay - facial dysmorphism syndrome
Cardiac valvular dysplasia, X-linked
Congenital alveolar dysplasia due to FGF10
Congenital alveolar dysplasia due to TBX4
Congenital heart defects, multiple types, 2
Congenital heart defects, multiple types, 3
Congenital heart defects, multiple types, 5
Congenital heart defects, multiple types, 8, with or without heterotaxy
Congenital heart defects, multiple types, 9
Coronary artery disease, autosomal dominant 2
Coronary artery disease, autosomal dominant, 1
Dextrocardia
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Familial atrial myxoma
Familial retinal arterial macroaneurysm
Fibromuscular dysplasia of the coronary arteries
Heart defects-limb shortening syndrome
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Mehta lewis patton syndrome
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Pericardial effusion, chronic
Postural orthostatic tachycardia syndrome due to NET deficiency
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Sinoatrial node dysfunction and deafness
Supravalvular aortic stenosis
Tetralogy of fallot
Transketolase deficiency
Tricuspid atresia
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome

Rare disease

Projects

Including projects on subtypes.

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Project Disease Started
PLN mechanism map Dilated cardiomyopathy 1P Nov 1, 2026