Heart and circulation

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-alphalipoprotein Neuropathy see Tangier disease
• ACD see alveolar capillary dysplasia with misalignment of pulmonary veins
• 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
• alveolar capillary dysplasia with misalignment of pulmonary veins
• 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
• angio-osteohypertrophy syndrome see Klippel-Trenaunay syndrome
• angiokeratoma corporis diffusum see Fabry disease
• angiokeratoma diffuse see Fabry disease
• annuloaortic ectasia see familial thoracic aortic aneurysm and dissection
• aortic stenosis, supravalvular see supravalvular aortic stenosis
• ARD see Refsum disease
• arrhythmogenic right ventricular cardiomyopathy
• arteriohepatic dysplasia (AHD) see Alagille syndrome
• ARVC see arrhythmogenic right ventricular cardiomyopathy
• ARVD see arrhythmogenic right ventricular cardiomyopathy
• Arylsulfatase B deficiency see mucopolysaccharidosis type VI
• 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
• 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
• beta-glucuronidase deficiency see mucopolysaccharidosis type VII
• 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
• CACT deficiency see carnitine-acylcarnitine translocase deficiency
• capillary malformation-arteriovenous malformation syndrome
• Cardiac-limb syndrome see Holt-Oram syndrome
• Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome
• cardio-cutaneous syndrome see multiple lentigines syndrome
• cardio-facio-cutaneous syndrome see cardiofaciocutaneous syndrome
• Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
• cardiofaciocutaneous syndrome
• cardiomyopathy, restrictive see familial restrictive cardiomyopathy
• cardiovertebral syndrome see Alagille syndrome
• carnitine-acylcarnitine translocase deficiency
• carnitine palmitoyltransferase II 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
• CM-AVM see capillary malformation-arteriovenous malformation syndrome
• CMD3B see DMD-associated dilated cardiomyopathy
• Complete trisomy 13 syndrome see trisomy 13
• complete trisomy 18 syndrome see trisomy 18
• congenital alveolar capillary dysplasia see alveolar capillary dysplasia with misalignment of pulmonary veins
• congenital contractural arachnodactyly
• congenital dysplastic angiopathy see Klippel-Trenaunay syndrome
• 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
• CPT II deficiency see carnitine palmitoyltransferase II deficiency
• CPT2 deficiency see carnitine palmitoyltransferase II deficiency
• CPVT see catecholaminergic polymorphic ventricular tachycardia
• CRD see Refsum disease
• cri-du-chat syndrome
• CTX see cerebrotendinous xanthomatosis
• CUD see primary carnitine deficiency
• Danon disease
• 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
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• diffuse lentiginosis see multiple lentigines syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• dilated cardiomyopathy 3B see DMD-associated dilated cardiomyopathy
• DMD-associated dilated cardiomyopathy
• DMD-related dilated cardiomyopathy see DMD-associated dilated cardiomyopathy
• Down syndrome
• DRRS see Duane-radial ray syndrome
• Duane-radial ray syndrome
• Duchenne and Becker muscular dystrophy
• early-onset myopathy with fatal cardiomyopathy see Salih myopathy
• 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
• FA see Friedreich ataxia
• FAA see familial thoracic aortic aneurysm and dissection
• 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 persistent pulmonary hypertension of the newborn see alveolar capillary dysplasia with misalignment of pulmonary veins
• familial polymorphic ventricular tachycardia see catecholaminergic polymorphic ventricular tachycardia
• familial primary pulmonary hypertension see pulmonary arterial hypertension
• familial restrictive cardiomyopathy
• familial thoracic aortic aneurysm and dissection
• 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
• Fryns syndrome
• geleophysic dysplasia
• generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
• GLA deficiency see Fabry disease
• glycogen storage disease type 2B see Danon disease
• glycogen storage disease type IIb see Danon disease
• Groenblad-Strandberg syndrome see pseudoxanthoma elasticum
• Gronblad-Strandberg syndrome see pseudoxanthoma elasticum
• GUSB deficiency see mucopolysaccharidosis type VII
• 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
• 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-Cell Disease see mucolipidosis II alpha/beta
• I2S deficiency see mucopolysaccharidosis type II
• IBD deficiency see isobutyryl-CoA 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
• isobutyryl-coenzyme A dehydrogenase deficiency see isobutyryl-CoA dehydrogenase deficiency
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• Jacobsen syndrome
• Jervell and Lange-Nielsen syndrome
• JLNS see Jervell and Lange-Nielsen syndrome
• Kaufman-McKusick syndrome see McKusick-Kaufman syndrome
• Kawasaki disease
• KD see Kawasaki disease
• Klippel-Trenaunay syndrome
• KTS see Klippel-Trenaunay syndrome
• KTW syndrome see Klippel-Trenaunay syndrome
• lentiginosis profusa see multiple lentigines syndrome
• LEOPARD syndrome see multiple lentigines syndrome
• lipodystrophy, congenital generalized see Berardinelli-Seip congenital lipodystrophy
• Lipoprotein Deficiency Disease, HDL, Familial see Tangier disease
• Loeys-Dietz syndrome
• 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
• lysosomal glycogen storage disease with normal acid maltase see Danon disease
• 3MGA see 3-methylglutaconic aciduria
• Male Turner Syndrome see Noonan syndrome
• malonic aciduria see malonyl-CoA decarboxylase deficiency
• malonyl-CoA decarboxylase deficiency
• malonyl-coenzyme A decarboxylase deficiency see malonyl-CoA decarboxylase deficiency
• Marfan syndrome
• Maroteaux-Lamy Syndrome see mucopolysaccharidosis type VI
• MCD deficiency see malonyl-CoA 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
• misalignment of the pulmonary vessels see alveolar capillary dysplasia with misalignment of pulmonary veins
• MKS see McKusick-Kaufman syndrome
• MLII see mucolipidosis II alpha/beta
• monosomy 4p see Wolf-Hirschhorn syndrome
• monosomy 5p see cri-du-chat syndrome
• Morquio-Brailsford disease see mucopolysaccharidosis type IV
• Morquio Disease see mucopolysaccharidosis type IV
• Morquio Syndrome see mucopolysaccharidosis type IV
• Mowat-Wilson syndrome
• Moynahan syndrome see multiple lentigines syndrome
• MPS I see mucopolysaccharidosis type I
• MPS II see mucopolysaccharidosis type II
• MPS IV see mucopolysaccharidosis type IV
• MPS VI see mucopolysaccharidosis type VI
• MPS VII see mucopolysaccharidosis type VII
• MPS6 see mucopolysaccharidosis type VI
• MPS7 see mucopolysaccharidosis type VII
• mucocutaneous lymph node syndrome see Kawasaki disease
• mucolipidosis II alpha/beta
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• mucopolysaccharidosis type IV
• mucopolysaccharidosis type VI
• mucopolysaccharidosis type VII
• multiple lentigines syndrome
• 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
• myofibrillar myopathy
• Noonan syndrome
• Noonan syndrome with multiple lentigines see multiple lentigines syndrome
• 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
• PAH see pulmonary arterial hypertension
• Pallister-Killian mosaic syndrome
• Parkes Weber 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
• PKWS see Parkes Weber syndrome
• Polydystrophic Dwarfism see mucopolysaccharidosis type VI
• 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
• progressive cardiomyopathic lentiginosis see multiple lentigines syndrome
• pseudo-Ullrich-Turner syndrome see Noonan syndrome
• pseudoxanthoma elasticum
• pulmonary arterial hypertension
• PXE see pseudoxanthoma elasticum
• RCM see familial restrictive cardiomyopathy
• 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
• right ventricular dysplasia, arrhythmogenic see arrhythmogenic right ventricular cardiomyopathy
• 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
• Salih myopathy
• 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
• Sly Syndrome see mucopolysaccharidosis type VII
• Smith-Lemli-Opitz syndrome
• Sotos syndrome
• sporadic primary pulmonary hypertension see pulmonary arterial hypertension
• SQTS see short QT syndrome
• stenosis, aortic supravalvular see supravalvular aortic stenosis
• stenosis, supravalvular aortic see supravalvular aortic stenosis
• 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
• supravalvular aortic stenosis
• Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
• SVAS see supravalvular aortic stenosis
• 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
• TAAD see familial thoracic aortic aneurysm and dissection
• 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
• Ullrich-Noonan syndrome see Noonan syndrome
• VACTERL association
• Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
• VATER association see VACTERL association
• VCFS see 22q11.2 deletion syndrome
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• ventricular dysplasia, right, arrhythmogenic see arrhythmogenic right ventricular cardiomyopathy
• Ventricular pre-excitation with arrhythmia see Wolff-Parkinson-White syndrome
• Ventriculo-radial syndrome see Holt-Oram syndrome
• 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-linked dilated cardiomyopathy see DMD-associated dilated cardiomyopathy
• X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
• Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
• XLCM see DMD-associated dilated cardiomyopathy
• XLDC see DMD-associated dilated cardiomyopathy
• 47,XX,+21 see Down syndrome
• 47,XY,+21 see Down syndrome