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
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner syndrome
• Alagille 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
• 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
• 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
• Bourneville Disease see tuberous sclerosis
• Bourneville Phakomatosis see tuberous sclerosis
• Brachmann-De Lange Syndrome see Cornelia de Lange 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
• 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 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
• 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
• 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
• 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 II deficiency
• CPTII see carnitine palmitoyltransferase II deficiency
• cri-du-chat syndrome
• CTX see cerebrotendinous xanthomatosis
• CUD see primary carnitine deficiency
• 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
• 4p Deletion Syndrome see Wolf-Hirschhorn syndrome
• 5p Deletion Syndrome see cri-du-chat 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
• 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
• 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 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
• FRDA see Friedreich ataxia
• Friedreich ataxia
• generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
• GLA deficiency see Fabry disease
• Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
• 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 spinal ataxia see Friedreich ataxia
• Hereditary Spinal Sclerosis see Friedreich ataxia
• 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
• 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
• 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
• Infantile hypercalcemia see Williams syndrome
• isobutyryl-CoA dehydrogenase deficiency see isobutyryl-coenzyme A dehydrogenase deficiency
• isobutyryl-coenzyme A dehydrogenase deficiency
• Jervell and Lange-Nielsen syndrome
• JLNS see Jervell and Lange-Nielsen syndrome
• Kaufman-McKusick syndrome see McKusick-Kaufman syndrome
• 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
• 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
• 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
• mucopolysaccharidosis type I
• mucopolysaccharidosis type II
• Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II 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
• Noonan 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
• 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
• 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
• 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
• Scheie Syndrome see mucopolysaccharidosis type I
• sclerosis tuberosa see tuberous sclerosis
• 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
• Tangier disease
• tetra-amelia 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
• tuberous sclerosis
• 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
• 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
• 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 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