RGDs registry under the 'Cardiovascular disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Tetralogy of Fallot |
•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 |
PubMed | Reports |
| 2 | Takayasu arteritis |
•Aortic arch syndrome |
Arterial disorders |
MLXIPL MLX interacting protein like IL12B interleukin 12B HLA-B major histocompatibility complex, class I, B |
PubMed | Reports |
| 3 | Supravalvar aortic stenosis |
•Supravalvular aortic stenosis •SVAS |
Arterial disorders |
ELN elastin |
PubMed | Reports |
| 4 | Situs inversus totalis |
•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 |
PubMed | Reports |
| 5 | Hereditary lymphedema type I |
•Milroy disease •Congenital hereditary lymphedema •Early onset lymphedema |
Primary lymphedema |
FLT4 fms related receptor tyrosine kinase 4 EPHB4 EPH receptor B4 |
PubMed | Reports |
| 6 | Naxos disease |
•Keratosis palmoplantaris with arrythmogenic cardiomyopathy •Mal de Naxos •Arrhythmogenic Right Ventricular Dysplasia |
Inherited arrhythmogenic cardiomyopathy |
JUP junction plakoglobin |
PubMed | Reports |
| 7 | Marfan syndrome |
•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 |
PubMed | Reports |
| 8 | Long QT syndrome | 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 |
PubMed | Reports | |
| 9 | Arterial tortuosity syndrome |
•ATS |
Arterial disorders |
SLC2A10 solute carrier family 2 member 10 |
PubMed | Reports |
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