RGDs registry under the 'Cardiovascular disorders'
| Disorder Name (Total=14) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Tetralogy of Fallot Autosomal dominant |
•Fallot tetralogy |
Congenital heart disease |
JAG1 jagged canonical Notch ligand 1 NKX2-5 NK2 homeobox 5 GATA4 GATA binding protein 4 GATA6 GATA binding protein 6 ZFPM2 zinc finger protein, FOG family member 2 EPHB4 EPH receptor B4 NOTCH1 notch receptor 1 TPM1 tropomyosin 1 TBX1 T-box transcription factor 1 NIPBL NIPBL cohesin loading factor MT-CO1 mitochondrially encoded cytochrome c oxidase I MT-CO2 mitochondrially encoded cytochrome c oxidase II MT-CO3 mitochondrially encoded cytochrome c oxidase III ROBO1 roundabout guidance receptor 1 FLNC filamin C |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Takayasu arteritis |
•Aortic arch syndrome |
Arterial disorders |
MLXIPL MLX interacting protein like IL12B interleukin 12B HLA-B major histocompatibility complex, class I, B |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Supravalvar aortic stenosis Autosomal dominant |
•Supravalvular aortic stenosis •SVAS |
Arterial disorders |
ELN elastin |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Situs inversus totalis Autosomal dominant, Autosomal recessive |
•Complete situs inversus |
Visceral heterotaxy |
PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting MNS1 meiosis specific nuclear structural 1 CFAP52 cilia and flagella associated protein 52 NODAL nodal growth differentiation factor |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Hereditary lymphedema type I Autosomal dominant |
•Milroy disease •Congenital hereditary lymphedema •Early onset lymphedema |
Primary lymphedema |
FLT4 fms related receptor tyrosine kinase 4 EPHB4 EPH receptor B4 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Naxos disease Autosomal recessive |
•Keratosis palmoplantaris with arrythmogenic cardiomyopathy •Mal de Naxos •Arrhythmogenic Right Ventricular Dysplasia |
Inherited arrhythmogenic cardiomyopathy |
JUP junction plakoglobin |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Marfan syndrome Autosomal dominant |
•FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections •Marfan syndrome type 1 •Marfan syndrome, classic •Marfan's syndrome |
Arterial disorders |
FBN1 fibrillin 1 COL1A2 collagen type I alpha 2 chain LTBP2 latent transforming growth factor beta binding protein 2 TGFBR2 transforming growth factor beta receptor 2 COL5A2 collagen type V alpha 2 chain NOTCH1 notch receptor 1 TGFB2 transforming growth factor beta 2 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Long QT syndrome Autosomal dominant |
Cardiac arrhythmia |
SCN4B sodium voltage-gated channel beta subunit 4 KCNQ1 potassium voltage-gated channel subfamily Q member 1 AKAP9 A-kinase anchoring protein 9 KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2 CAV3 caveolin 3 SNTA1 syntrophin alpha 1 KCNJ5 potassium inwardly rectifying channel subfamily J member 5 SCN5A sodium voltage-gated channel alpha subunit 5 KCNE1 potassium voltage-gated channel subfamily E regulatory subunit 1 KCNH2 potassium voltage-gated channel subfamily H member 2 ANK2 ankyrin 2 CALM2 calmodulin 2 CACNA1C calcium voltage-gated channel subunit alpha1 C KCNJ2 potassium inwardly rectifying channel subfamily J member 2 RYR2 ryanodine receptor 2 TRPM4 transient receptor potential cation channel subfamily M member 4 CALM1 calmodulin 1 PKP2 plakophilin 2 CALM3 calmodulin 3 MYPN myopalladin RNF207 ring finger protein 207 CACNA1S calcium voltage-gated channel subunit alpha1 S MYH6 myosin heavy chain 6 MYBPC3 myosin binding protein C3 DSG2 desmoglein 2 CTNNA3 catenin alpha 3 |
Reports Updated as of Feb 20, 2024 |
PubMed | |
| Arterial tortuosity syndrome Autosomal recessive |
•ATS |
Arterial disorders |
SLC2A10 solute carrier family 2 member 10 |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Cardiomyopathy, familial restrictive, 1 Autosomal dominant |
•TNNI3-Related Familial Restrictive Cardiomyopathy |
Cardiogenetic disease |
TNNI3 troponin I3, cardiac type |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Catecholaminergic polymorphic ventricular tachycardia 1 Autosomal dominant, Autosomal recessive |
•Ventricular tachycardia, stress-induced polymorphic 1 •Catecholaminergic polymorphic ventricular tachycardia •bidirectional tachycardia induced by catecholamine •double tachycardia induced by catecholamines •malignant paroxysmal ventricular tachycardia •multifocal ventricular premature beats •ventricular tachycardia, catecholaminergic polymorphic •catecholamine-induced polymorphic ventricular tachycardia •Familial polymorphic ventricular tachycardia •Polymorphic catecholergic ventricular tachycardia •RYR2-related catecholaminergic polymorphic ventricular tachycardia •Stress-induced polymorphic ventricular tachycardia |
Cardiac arrythmia |
RYR2 ryanodine receptor 2 CASQ2 calsequestrin 2 DSP desmoplakin TRDN triadin |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Arrhythmogenic right ventricular dysplasia 2 Autosomal dominant, Autosomal recessive |
•Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome •ARVC cardiomyopathy •arrhythmogenic right ventricular dysplasia •right ventricular dysplasia |
Cardiac arrythmia |
RYR2 ryanodine receptor 2 TNNI3K TNNI3 interacting kinase |
Reports Updated as of Feb 01, 2025 |
PubMed |
| Left ventricular noncompaction cardiomyopathy Autosomal dominant, Autosomal recessive, X-linked recessive, MT inheritance |
•LVNC •Left ventricular noncompaction •left ventricular hypertrabeculation •left ventricular non-compaction cardiomyopathy •left ventricular non-compaction syndrome •left ventricular noncompaction (disease) •Lv non-compaction syndrome •LVNC •spongy myocardium |
Congenital heart disease |
MYH7 myosin heavy chain 7 TTN titin RYR2 ryanodine receptor 2 DSP desmoplakin MYBPC3 myosin binding protein C3 SCN5A sodium voltage-gated channel alpha subunit 5 LAMA4 laminin subunit alpha 4 DMD dystrophin LDB3 LIM domain binding 3 ACTC1 actin alpha cardiac muscle 1 DTNA dystrobrevin alpha TAFAZZIN tafazzin, phospholipid-lysophospholipid transacylase TPM1 tropomyosin 1 DSG2 desmoglein 2 TBX5 T-box transcription factor 5 PKP2 plakophilin 2 HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 PRDM16 PR/SET domain 16 RAF1 Raf-1 proto-oncogene, serine/threonine kinase |
Reports Updated as of Feb 04, 2025 |
PubMed |
| Pulmonary arterial hypertension Autosomal dominant |
•PAH |
Arterial disorders |
ACVRL1 activin A receptor like type 1 BMPR2 bone morphogenetic protein receptor type 2 ENG endoglin SMAD9 SMAD family member 9 TBX4 T-box transcription factor 4 ABCA3 ATP binding cassette subfamily A member 3 KCNK3 potassium two pore domain channel subfamily K member 3 EIF2AK4 eukaryotic translation initiation factor 2 alpha kinase 4 ATP13A3 ATPase 13A3 SOX17 SRY-box transcription factor 17 NOTCH1 notch receptor 1 |
Reports Updated as of Feb 26, 2025 |
PubMed |