GenTIGS

RGDs registry under the 'Cardiovascular disorders'

Disorder Name (Total=23)	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 arrhythmia	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 arrhythmia	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 01, 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
Andersen Tawil syndrome Autosomal dominant	•Long QT syndrome 7 •Andersen-tawil syndrome •Andersen cardiodysrhythmic periodic paralysis •long QT syndrome type 7 •Andersen syndrome •Potassium-sensitive cardiodysrhythmic type •Periodic paralysis, potassium-sensitive cardiodysrhythmic type •Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features •LQT7	Congenital heart disease	KCNJ2 potassium inwardly rectifying channel subfamily J member 2	Reports Updated as of Jun 12, 2025	PubMed
Loeys-Dietz syndrome 2 Autosomal dominant	•TGFBR2-related thoracic aortic aneurysms and aortic dissections •Loeys-Dietz syndrome caused by mutation in tgfbr2 •Loeys-Dietz syndrome type 2 •Loeys-Dietz syndrome type ii •Marfan like connective tissue disorder •Marfan syndrome type 2 •Marfan syndrome, type 2 (formerly) • MFS 2 •LDS2 •TGFBR2 Loeys-Dietz syndrome •TGFBR2-related Loeys-Dietz syndrome •Aortic aneurysm, familial thoracic 3 •Marfan like connective tissue disorder •Marfan syndrome, type ii	Vascular disorders	TGFBR2 transforming growth factor beta receptor 2 TMPO thymopoietin	Reports Updated as of Jan 05, 2026	PubMed
Heterotaxy, visceral, 6, autosomal Autosomal recessive	•HTX6	Congenital heart disease	CFAP53 cilia and flagella associated protein 53	Reports Updated as of Mar 30, 2026	PubMed
Hypertrophic cardiomyopathy 14 Autosomal dominant	•Cardiomyopathy, Familial Hypertrophic, 14 •CMH14	Cardiogenetic disease	MYH6 myosin heavy chain 6	Reports Updated as of Mar 30, 2026	PubMed
Arterial calcification, generalized, of infancy, 1 Autosomal recessive	•Arterial calcification of infancy •GACI1 •Generalized arterial calcification of infancy •Idiopathic infantile arterial calcification •Idiopathic obliterative arteriopathy •Infantile arteriosclerosis •Occlusive infantile arteriopathy •Arterial Calcification, Generalized, of Infancy •Arterial calcification, generalized, of infancy, 1(GACI1)	Arterial disorders	ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1	Reports Updated as of Mar 30, 2026	PubMed
Restrictive cardiomyopathy Autosomal dominant, Autosomal recessive	•Cardiomyopathies, Restrictive •Cardiomyopathy, Restrictive •Familial Restrictive Cardiomyopathy •Restrictive Cardiomyopathies •Primary restrictive cardiomyopathy •Constrictive cardiomyopathy	Cardiomyopathy	TNNT2 troponin T2, cardiac type MYH7 myosin heavy chain 7 TNNI3 troponin I3, cardiac type MYPN myopalladin FLNC filamin C PDLIM3 PDZ and LIM domain 3 TTN titin	Reports Updated as of Mar 30, 2026	PubMed
Parkes Weber syndrome Autosomal dominant	•Capillary malformation-arteriovenous malformation 1 •Cutaneous flush with underlying multiple micro arteriovenous fistulas, soft tissue and skeletal hypertrophy of the affected limb •CMAVM1 •PKWS	Vascular disorders	MAP2K1 mitogen-activated protein kinase kinase 1	Reports Updated as of Apr 28, 2026	PubMed
Verrucous hemangioma	•Verrucous venous malformation	Vascular disorders	MAP3K3 mitogen-activated protein kinase kinase kinase 3	Reports Updated as of Apr 28, 2026	PubMed
Angioosteohypertrophic syndrome Autosomal dominant	•Klippel-Trenaunay syndrome •Angio-osteohypertrophic syndrome •Angioosteohypertrophy syndrome •Haemangiectatic hypertrophy •Klippel Trenaunay syndrome •Klippel-Trenaunay-weber syndrome, isolated cases •Klippel-Trénaunay syndrome •Klippel-Trénaunay-weber syndrome •Weber-Klippel-Trenaunay •KTS •KTW syndrome	Vascular disorders	RASA1 RAS p21 protein activator 1	Reports Updated as of Apr 28, 2026	PubMed