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	Genetic Conditions: Heart The circulation system is composed of the heart, blood vessels (arteries, veins, and capillaries), and blood. The circulatory system delivers oxygen and nutrients to cells and carries away waste. Altered genes may disrupt the development or function of the circulatory system. - A - A-alphalipoprotein Neuropathy see Tangier disease Adult premature aging syndrome see Werner syndrome Adult Progeria see Werner syndrome Adult Refsum disease see Refsum disease Alagille syndrome Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome ALMS see Alström syndrome Alpha-galactosidase A deficiency see Fabry disease Alpha high density lipoprotein deficiency disease see Tangier disease Alpha-L-iduronidase deficiency see Mucopolysaccharidosis type I Alström syndrome Anal-ear-renal-radial malformation syndrome see Townes-Brocks syndrome Analphalipoproteinemia see Tangier disease Andersen cardiodysrhythmic periodic paralysis see Andersen-Tawil syndrome Andersen syndrome see Andersen-Tawil syndrome Andersen-Tawil syndrome Anderson-Fabry disease see Fabry disease Angiokeratoma corporis diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease ARD see Refsum disease Arteriohepatic dysplasia (AHD) see Alagille syndrome Atrio-digital syndrome see Holt-Oram syndrome Atriodigital dysplasia see Holt-Oram syndrome ATS see Andersen-Tawil syndrome Auricular Fibrillation see Familial atrial fibrillation Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome Autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome Ayerza syndrome see Pulmonary arterial hypertension - B - Bartholin-Patau syndrome see Trisomy 13 BDLS see Cornelia de Lange syndrome Beals-Hecht syndrome see Congenital contractural arachnodactyly Beals syndrome see Congenital contractural arachnodactyly Berardinelli-Seip congenital lipodystrophy Beuren syndrome see Williams syndrome Bidirectional tachycardia induced by catecholamines see Catecholaminergic polymorphic ventricular tachycardia Bourneville disease see Tuberous sclerosis complex Bourneville Phakomatosis see Tuberous sclerosis complex Brachmann-De Lange syndrome see Cornelia de Lange syndrome brachydactyly-mental retardation syndrome see 2q37 deletion syndrome Broad Thumb-Hallux syndrome see Rubinstein-Taybi syndrome Brugada syndrome Brunzell syndrome (with bone cysts) see Berardinelli-Seip congenital lipodystrophy BSCL see Berardinelli-Seip congenital lipodystrophy - C - CACT deficiency see Carnitine-acylcarnitine translocase deficiency Cardiac-limb syndrome see Holt-Oram syndrome Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome Cardio-facio-cutaneous syndrome see Cardiofaciocutaneous syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome Cardiofaciocutaneous syndrome Cardiovertebral syndrome see Alagille syndrome Carnitine-acylcarnitine translocase deficiency Carnitine palmitoyltransferase 2 deficiency Carnitine transporter deficiency see Primary carnitine deficiency Carnitine uptake defect see Primary carnitine deficiency Carnitine uptake deficiency see Primary carnitine deficiency Cat cry syndrome see Cri-du-chat syndrome CATCH22 see 22q11.2 deletion syndrome Catecholamine-induced polymorphic ventricular tachycardia see Catecholaminergic polymorphic ventricular tachycardia Catecholaminergic polymorphic ventricular tachycardia Cayler cardiofacial syndrome see 22q11.2 deletion syndrome CCA see Congenital contractural arachnodactyly CDLS see Cornelia de Lange syndrome Ceramide trihexosidase deficiency see Fabry disease Cerebral gigantism see Sotos syndrome cerebral sclerosis see Tuberous sclerosis complex cerebrotendinous xanthomatosis CFC syndrome see Cardiofaciocutaneous syndrome Char syndrome CHARGE syndrome Cholestasis with peripheral pulmonary stenosis see Alagille syndrome Cholesterol thesaurismosis see Tangier disease Chondroectodermal Dysplasia see Ellis-van Creveld syndrome Chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome Chromosome 4p monosomy see Wolf-Hirschhorn syndrome Chromosome 5p- syndrome see Cri-du-chat syndrome classic Refsum disease see Refsum disease Complete trisomy 13 syndrome see Trisomy 13 Complete trisomy 18 syndrome see Trisomy 18 Congenital contractural arachnodactyly Congenital generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome Contractural arachnodactyly, congenital see Congenital contractural arachnodactyly Cornelia de Lange syndrome Costello syndrome CPT2 see Carnitine palmitoyltransferase 2 deficiency CPTII see Carnitine palmitoyltransferase 2 deficiency CPVT see Catecholaminergic polymorphic ventricular tachycardia CRD see Refsum disease Cri-du-chat syndrome CTX see cerebrotendinous xanthomatosis CUD see Primary carnitine deficiency - D - DBMD see Duchenne and Becker muscular dystrophy De Lange syndrome see Cornelia de Lange syndrome Deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks syndrome 7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome del(4p) syndrome see Wolf-Hirschhorn syndrome 2q37 deletion syndrome 4p Deletion syndrome see Wolf-Hirschhorn syndrome 5p deletion syndrome see Cri-du-chat syndrome 11q deletion disorder see Jacobsen syndrome 11q deletion syndrome see Jacobsen syndrome 11q23 deletion disorder see Jacobsen syndrome 22q11.2 deletion syndrome see 22q11.2 deletion syndrome; Opitz G/BBB syndrome Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome DGSX see Simpson-Golabi-Behmel syndrome DiGeorge syndrome see 22q11.2 deletion syndrome Down syndrome DRRS see Duane-radial ray syndrome Duane-radial ray syndrome Duchenne and Becker muscular dystrophy - E - EDS see Ehlers-Danlos syndrome Edwards syndrome see Trisomy 18 Ehlers-Danlos syndrome Elevated cholesterol see Hypercholesterolemia Elfin Facies syndrome see Williams syndrome Elfin facies with hypercalcemia see Williams syndrome Ellis-van Creveld syndrome Emanuel syndrome Epiloia see Tuberous sclerosis complex - F - FA see Friedreich ataxia Fabry disease faciocutaneoskeletal syndrome see Costello syndrome Familial atrial fibrillation Familial high density lipoprotein deficiency disease see Tangier disease Familial hypoalphalipoproteinemia see Tangier disease Familial polymorphic ventricular tachycardia see Catecholaminergic polymorphic ventricular tachycardia Familial primary pulmonary hypertension see Pulmonary arterial hypertension Familial Turner syndrome see Noonan syndrome FCS syndrome see Costello syndrome Female pseudo-Turner syndrome see Noonan syndrome FPPH see Pulmonary arterial hypertension FPVT see Catecholaminergic polymorphic ventricular tachycardia FRDA see Friedreich ataxia Friedreich ataxia - G - Geleophysic dysplasia Generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy GLA deficiency see Fabry disease Gronblad-Strandberg syndrome see Pseudoxanthoma elasticum - H - Hall-Hittner syndrome see CHARGE syndrome HDL lipoprotein deficiency disease see Tangier disease Heart-hand syndrome, type 1 see Holt-Oram syndrome hepatic ductular hypoplasia see Alagille syndrome hepatofacioneurocardiovertebral syndrome see Alagille syndrome Hereditary dystopic lipidosis see Fabry disease Hereditary hemorrhagic telangiectasia Hereditary motor and sensory neuropathy Type IV see Refsum disease Hereditary spinal ataxia see Friedreich ataxia Hereditary Spinal Sclerosis see Friedreich ataxia Heredopathia atactica polyneuritiformis see Refsum disease HGPS see Hutchinson-Gilford progeria syndrome HHT see Hereditary hemorrhagic telangiectasia Hirschsprung disease-mental retardation syndrome see Mowat-Wilson syndrome HMCS see McKusick-Kaufman syndrome HMSN IV see Refsum disease HMSN type IV see Refsum disease Holt-Oram syndrome HOS see Holt-Oram syndrome Hunter syndrome see Mucopolysaccharidosis type II Hurler-Scheie syndrome see Mucopolysaccharidosis type I Hurler syndrome see Mucopolysaccharidosis type I Hutchinson-Gilford progeria syndrome Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation see McKusick-Kaufman syndrome Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome Hypercholesterolemia Hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome Hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome - I - I-cell disease see Mucolipidosis II alpha/beta I2S deficiency see Mucopolysaccharidosis type II IBD deficiency see isobutyryl-coenzyme A dehydrogenase deficiency Idiopathic pulmonary hypertension see Pulmonary arterial hypertension IDUA deficiency see Mucopolysaccharidosis type I Iduronate 2-sulfatase deficiency see Mucopolysaccharidosis type II Imperforate anus-hand and foot anomalies syndrome see Townes-Brocks syndrome Inclusion cell disease see Mucolipidosis II alpha/beta Infantile hypercalcemia see Williams syndrome Isobutyryl-CoA dehydrogenase deficiency see isobutyryl-coenzyme A dehydrogenase deficiency Isobutyryl-coenzyme A dehydrogenase deficiency Isochromosome 12p syndrome see Pallister-Killian mosaic syndrome - J - Jacobsen syndrome Jervell and Lange-Nielsen syndrome JLNS see Jervell and Lange-Nielsen syndrome - K - Kaufman-McKusick syndrome see McKusick-Kaufman syndrome - L - Lipodystrophy, congenital generalized see Berardinelli-Seip congenital lipodystrophy Lipoprotein deficiency disease, HDL, familial see Tangier disease Long QT syndrome 7 see Andersen-Tawil syndrome Long QT syndrome with syndactyly see Timothy syndrome LQT7 see Andersen-Tawil syndrome LQT8 see Timothy syndrome - M - 3MGA see 3-methylglutaconic aciduria Male Turner syndrome see Noonan syndrome Malonic aciduria see malonyl-coenzyme A decarboxylase deficiency Malonyl-CoA decarboxylase deficiency see malonyl-coenzyme A decarboxylase deficiency Malonyl-coenzyme A decarboxylase deficiency Marfan syndrome MCD deficiency see malonyl-coenzyme A decarboxylase deficiency McKusick-Kaufman syndrome MCOPS2 see Oculofaciocardiodental syndrome mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome 3-methylglutaconic aciduria MFS see Marfan syndrome Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome Microphthalmia, cataracts, radiculomegaly, and septal heart defects see Oculofaciocardiodental syndrome Microphthalmia, syndromic 2 see Oculofaciocardiodental syndrome MKS see McKusick-Kaufman syndrome MLII see Mucolipidosis II alpha/beta Monosomy 4p see Wolf-Hirschhorn syndrome Monosomy 5p see Cri-du-chat syndrome Mowat-Wilson syndrome MPS I see Mucopolysaccharidosis type I MPS II see Mucopolysaccharidosis type II Mucolipidosis II alpha/beta Mucopolysaccharidosis type I Mucopolysaccharidosis type II Muscle form of carnitine palmitoyltransferase deficiency see Carnitine palmitoyltransferase 2 deficiency Muscular dystrophy, Duchenne and Becker types see Duchenne and Becker muscular dystrophy Muscular dystrophy, pseudohypertrophic see Duchenne and Becker muscular dystrophy MWS see Mowat-Wilson syndrome - N - Noonan syndrome - O - Oculo-facio-cardio-dental syndrome see Oculofaciocardiodental syndrome Oculofaciocardiodental syndrome OFCD syndrome see Oculofaciocardiodental syndrome Okihiro syndrome see Duane-radial ray syndrome Opitz G/BBB syndrome Osler-Rendu disease see Hereditary hemorrhagic telangiectasia Osler-Rendu-Weber disease see Hereditary hemorrhagic telangiectasia Osler's disease see Hereditary hemorrhagic telangiectasia - P - PAH see Pulmonary arterial hypertension Pallister-Killian mosaic syndrome partial monosomy 4p see Wolf-Hirschhorn syndrome Patau syndrome see Trisomy 13 Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits see Char syndrome paucity of interlobular bile ducts see Alagille syndrome Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome phytanic acid storage disease see Refsum disease PKS see Pallister-Killian mosaic syndrome Portuguese polyneuritic amyloidosis see Transthyretin amyloidosis Portuguese type familial amyloid neuropathy see Transthyretin amyloidosis PPH see Pulmonary arterial hypertension Primary carnitine deficiency Primary pulmonary hypertension see Pulmonary arterial hypertension Progeria see Hutchinson-Gilford progeria syndrome Pseudo-Ullrich-Turner syndrome see Noonan syndrome Pseudoxanthoma elasticum Pulmonary arterial hypertension PXE see Pseudoxanthoma elasticum - Q - - R - rec(8) syndrome see Recombinant 8 syndrome Recombinant 8 syndrome Refsum disease Renal carnitine transport defect see Primary carnitine deficiency Renal-ear-anal-radial syndrome (REAR) see Townes-Brocks syndrome Rendu-Osler-Weber see Hereditary hemorrhagic telangiectasia Romano-Ward syndrome RSH syndrome see Smith-Lemli-Opitz syndrome RSTS see Rubinstein-Taybi syndrome RTS see Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome RWS see Romano-Ward syndrome - S - San Luis Valley syndrome see Recombinant 8 syndrome Scheie syndrome see Mucopolysaccharidosis type I Sclerosis tuberosa see Tuberous sclerosis complex SDYS see Simpson-Golabi-Behmel syndrome Sedlackova syndrome see 22q11.2 deletion syndrome Seip syndrome see Berardinelli-Seip congenital lipodystrophy Sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome see Townes-Brocks syndrome SGBS see Simpson-Golabi-Behmel syndrome Short QT syndrome Shprintzen syndrome see 22q11.2 deletion syndrome Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel syndrome Simpson syndrome see Simpson-Golabi-Behmel syndrome SLO syndrome see Smith-Lemli-Opitz syndrome SLOS see Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz syndrome Sotos syndrome Spinocerebellar ataxia, Friedreich see Friedreich ataxia Sporadic primary pulmonary hypertension see Pulmonary arterial hypertension SQTS see Short QT syndrome Sudden unexpected nocturnal death syndrome see Brugada syndrome Sudden unexplained death syndrome see Brugada syndrome SUDS see Brugada syndrome Supernumary der(22) syndrome see Emanuel syndrome Supernumary der(22)t(11;22) syndrome see Emanuel syndrome Supernumary derivative 22 chromosome syndrome see Emanuel syndrome Supravalvar aortic stenosis syndrome see Williams syndrome Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome Swiss type amyloid polyneuropathy see Transthyretin amyloidosis 4p- syndrome see Wolf-Hirschhorn syndrome 5p- syndrome see Cri-du-chat syndrome Systemic carnitine deficiency see Primary carnitine deficiency - T - Tangier disease 11q terminal deletion disorder see Jacobsen syndrome Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome Tetra-amelia syndrome Tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome Timothy syndrome Total lipodystrophy see Berardinelli-Seip congenital lipodystrophy Townes-Brocks syndrome Townes syndrome see Townes-Brocks syndrome Transthyretin amyloidosis Trisomy 13 Trisomy 18 Trisomy 21 see Down syndrome TS see Timothy syndrome Tuberose sclerosis see Tuberous sclerosis complex Tuberous sclerosis complex Turner-like syndrome see Noonan syndrome Turner syndrome in female with X chromosome see Noonan syndrome Turner's phenotype, karyotype normal see Noonan syndrome Type I familial amyloid polyneuropathy see Transthyretin amyloidosis Type II familial amyloid polyneuropathy see Transthyretin amyloidosis - U - Ullrich-Noonan syndrome see Noonan syndrome - V - van Bogaert-Scherer-Epstein disease see cerebrotendinous xanthomatosis VCFS see 22q11.2 deletion syndrome Velo-cardio-facial syndrome see 22q11.2 deletion syndrome Velocardiofacial syndrome see 22q11.2 deletion syndrome Ventricular pre-excitation with arrhythmia see Wolff-Parkinson-White syndrome Ventriculo-radial syndrome see Holt-Oram syndrome - W - Ward-Romano syndrome see Romano-Ward syndrome Watson-Miller syndrome see Alagille syndrome WBS see Williams syndrome Weber-Osler see Hereditary hemorrhagic telangiectasia Werner syndrome WHS see Wolf-Hirschhorn syndrome Williams syndrome WMS see Williams syndrome Wolf-Hirschhorn syndrome Wolff-Parkinson-White syndrome WPW syndrome see Wolff-Parkinson-White syndrome WRS see Romano-Ward syndrome WS see Werner syndrome; Williams syndrome - X - X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis 47,XX,+21 see Down syndrome 47,XY,+21 see Down syndrome - Y - - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.