Genetic Diseases & Conditions - 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.

Adult premature aging syndrome see Werner syndrome
Adult Progeria see Werner syndrome
Alagille syndrome
Alpha-galactosidase A deficiency see Fabry disease
Alström syndrome
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
Arachnodactyly see Marfan syndrome
arteriohepatic dysplasia (AHD) see Alagille syndrome
Arthrochalasis multiplex congenita see Ehlers-Danlos syndrome, arthrochalasia type
ATS see Andersen-Tawil syndrome
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
Ayerza Syndrome see primary pulmonary hypertension
Bartholin-Patau syndrome see trisomy 13
BDLS see Cornelia de Lange syndrome
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
CACT deficiency see carnitine-acylcarnitine translocase deficiency
Cardio-auditory-syncope syndrome see Jervell and Lange-Nielsen syndrome
Cardioauditory syndrome of Jervell and Lange-Nielsen see Jervell and Lange-Nielsen syndrome
cardiovertebral syndrome see Alagille syndrome
carnitine-acylcarnitine translocase deficiency
carnitine palmitoyltransferase I 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
CDLS see Cornelia de Lange syndrome
Ceramide trihexosidase deficiency see Fabry disease
cerebral sclerosis see tuberous sclerosis
cholestasis with peripheral pulmonary stenosis see Alagille syndrome
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome
Chromosomal imbalance syndrome, pair 13, trisomy see trisomy 13
Chromosomal imbalance syndrome, pair 18, trisomy see trisomy 18
Chromosome 5p- Syndrome see cri-du-chat syndrome
chromosome 13 trisomy syndrome see trisomy 13
Classical Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, classical type
Complete trisomy 13 syndrome see trisomy 13
Complete trisomy 18 syndrome see trisomy 18
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
Cornelia de Lange syndrome
Costello syndrome
CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
CPT I deficiency see carnitine palmitoyltransferase I deficiency
CPT2 - Carnitine palmitoyltransferase II deficiency see carnitine palmitoyltransferase II deficiency
CPTII - Carnitine palmitoyltransferase deficiency type II see carnitine palmitoyltransferase II deficiency
cri-du-chat syndrome
CUD see primary carnitine deficiency
D1 Trisomy see trisomy 13
DBMD see muscular dystrophy, Duchenne and Becker types
De Lange Syndrome see Cornelia de Lange syndrome
7-Dehydrocholesterol reductase deficiency see Smith-Lemli-Opitz syndrome
5p Deletion Syndrome see cri-du-chat syndrome
22q11.2 deletion syndrome
Dermatosparactic type of Ehlers-Danlos syndrome see Ehlers-Danlos syndrome, dermatosparaxis type
Dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
DiGeorge Syndrome see 22q11.2 deletion syndrome
Down syndrome
Duchenne/Becker muscular dystrophy see muscular dystrophy, Duchenne and Becker types
E3 Trisomy see trisomy 18
EDS see Ehlers-Danlos syndrome
Edwards Syndrome see trisomy 18
Ehlers-Danlos syndrome
Elfin Facies Syndrome see Williams syndrome
Elfin facies with hypercalcemia see Williams syndrome
Ellis-van Creveld syndrome
Epiloia see tuberous sclerosis
FA - Friedreich ataxia see Friedreich ataxia
Fabry disease
faciocutaneoskeletal syndrome see Costello syndrome
familial primary pulmonary hypertension (FPPH) see primary pulmonary hypertension
familial Turner syndrome see Noonan syndrome
FCS syndrome see Costello syndrome
Female Pseudo-Turner Syndrome see Noonan syndrome
FRDA see Friedreich ataxia
Friedreich ataxia
GLA deficiency see Fabry disease
Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
hepatic ductular hypoplasia see Alagille syndrome
hepatofacioneurocardiovertebral syndrome see Alagille syndrome
Hereditary dystopic lipidosis see Fabry disease
hereditary haemorrhagic telangiectasia
Hereditary spinal ataxia see Friedreich ataxia
Hereditary Spinal Sclerosis see Friedreich ataxia
HGPS see Hutchinson-Gilford progeria syndrome
HHT see hereditary haemorrhagic telangiectasia
Human dermatosparaxis see Ehlers-Danlos syndrome, dermatosparaxis type
Hutchinson-Gilford progeria syndrome
Hypercalcemia-Supravalvar Aortic Stenosis see Williams syndrome
Idiopathic pulmonary hypertension see primary pulmonary hypertension
Infantile hypercalcemia see Williams syndrome
Jervell and Lange-Nielsen syndrome
JLNS see Jervell and Lange-Nielsen syndrome
Liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
Long QT syndrome 7 see Andersen-Tawil syndrome
LQT7 see Andersen-Tawil syndrome
Lysyl-hydroxylase deficiency see Ehlers-Danlos syndrome, kyphoscoliosis type
Male Turner Syndrome see Noonan syndrome
Malonic aciduria see malonyl-CoA decarboxylase deficiency
malonyl-CoA decarboxylase deficiency
Marfan syndrome
MCD deficiency see malonyl-CoA decarboxylase deficiency
3-methylglutaconic aciduria
MFS see Marfan syndrome
Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
muscular dystrophy, Duchenne and Becker types
Noonan syndrome
Osler-Rendu Disease see hereditary haemorrhagic telangiectasia
Osler-Rendu-Weber disease see hereditary haemorrhagic telangiectasia
Osler's disease see hereditary haemorrhagic telangiectasia
Patau syndrome see trisomy 13
paucity of interlobular bile ducts see Alagille syndrome
Periodic paralysis, potassium-sensitive cardiodysrhythmic type see Andersen-Tawil syndrome
PPH see primary pulmonary hypertension
primary carnitine deficiency
primary pulmonary hypertension
Procollagen type EDS VII, mutant see Ehlers-Danlos syndrome, arthrochalasia type
Progeria see Hutchinson-Gilford progeria syndrome
pseudo-Ullrich-Turner syndrome see Noonan syndrome
pseudoxanthoma elasticum
pulmonary arterial hypertension see primary pulmonary hypertension
PXE - Pseudoxanthoma elasticum see pseudoxanthoma elasticum
Renal carnitine transport defect see primary carnitine deficiency
Rendu-Osler-Weber see hereditary haemorrhagic 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
Sack-Barabas syndrome see Ehlers-Danlos syndrome, vascular type
sclerosis tuberosa see tuberous sclerosis
Sedlackova syndrome see 22q11.2 deletion syndrome
Shprintzen syndrome see 22q11.2 deletion syndrome
SLO syndrome see Smith-Lemli-Opitz syndrome
SLOS see Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome
Spinocerebellar Ataxia, Friedreich see Friedreich ataxia
sporadic primary pulmonary hypertension see primary pulmonary hypertension
Sudden unexpected nocturnal death syndrome see Brugada syndrome
Sudden unexplained death syndrome see Brugada syndrome
SUDS see Brugada syndrome
SUNDS see Brugada syndrome
Supravalvar aortic stenosis syndrome see Williams syndrome
Surdo-cardiac syndrome see Jervell and Lange-Nielsen syndrome
5p- Syndrome see cri-du-chat syndrome
Systemic carnitine deficiency see primary carnitine deficiency
trisomy 13
trisomy 18
Trisomy 21 see Down 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
Ullrich-Noonan syndrome see Noonan syndrome
VCFS see 22q11.2 deletion syndrome
Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
Velocardiofacial syndrome see 22q11.2 deletion syndrome
Ward-Romano Syndrome see Romano-Ward syndrome
Watson-Miller syndrome see Alagille syndrome
WBS see Williams syndrome
Weber-Osler see hereditary haemorrhagic telangiectasia
Werner syndrome
Williams syndrome
WMS see Williams syndrome
WRS see Romano-Ward syndrome
WS see Werner syndrome; Williams syndrome
47,XX,+21 see Down syndrome
47,XY,+21 see Down syndrome

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