Gene Summary

Name:
hydroxyprostaglandin dehydrogenase 15 (NAD)
Synonyms:
15-PGDH

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hpgd mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Hpgd by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus OMIM:259100
Pachydermoperiostosis
Elevated circulating growth hormone concentration ORPHA:2796
Digital Clubbing, Isolated Congenital
OMIM:119900
Cranio-Osteoarthropathy
ORPHA:1525

The table below shows human diseases predicted to be associated to Hpgd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Atrial fibrillation, Patent ductus arteriosus, Sudden cardiac death, Cong... OMIM:604169
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Coronary artery atherosclerosi... OMIM:613485
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Endocardial Fibroelastosis
Congestive heart failure, Cardiomyopathy OMIM:226000
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia ORPHA:397685
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Premature coronary artery atherosclerosis, Hypertension, Hypertriglyceridem... OMIM:615703
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:254351
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy,... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:601493
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Abnormal aortic morphology, Aorto-ventricular tunnel, Heart ... ORPHA:3400
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Aortic regurgitation, Patent ductus arteriosus, Posterior cerebral a... OMIM:132900
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Ovarian Dysgenesis 3
Primary amenorrhea OMIM:614324
Grange Syndrome
Hypertension, Patent ductus arteriosus, Arterial stenosis, Aortic regurgitation ORPHA:79094
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Congestive heart failure, Myocardial infarction, Hypertension OMIM:614473
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... ORPHA:206484
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Patent ductu... ORPHA:229
Camptodactyly-Fibrous Tissue Hyperplasia-Skeletal Dysplasia Syndrome
Patent ductus arteriosus ORPHA:1321
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Atrial fibrillation, Congestive heart failure, Dilated ca... OMIM:115200
Adams-Oliver Syndrome 4
Patent ductus arteriosus OMIM:615297
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... OMIM:612964
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Ventricular tachycardia, Congestive heart failure, Death in early adulthood... OMIM:605676
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Patent ductus arteriosus OMIM:211930
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Mitral regurgitation, Hype... OMIM:615248
Arterial Calcification, Generalized, Of Infancy, 1
Generalized arterial calcification, Hypertension, Myocardial infarction, Congestive heart failure... OMIM:208000
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Cardiomyopathy, Familial Hypertrophic, 26
Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Patent ductus arteriosus OMIM:249670
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Analbuminemia
Hypotension, Hypercholesterolemia, Patent ductus arteriosus OMIM:616000
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Hypertriglyceridemia, Abnormal... ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Megabladder, Congenital
Patent ductus arteriosus, Left ventricular noncompaction cardiomyopathy OMIM:618719
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:1345
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Transposition of the great arteries, Coarctation of... OMIM:612474
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Sandhoff Disease
Congestive heart failure, Cherry red spot of the macula ORPHA:796
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension OMIM:617021
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypogonadism, Abnormality of the ovary ORPHA:1875
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Double outlet right ventricle... OMIM:618845
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Sinus bradycardia, Peripheral arterial stenosis OMIM:126320
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:601494
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Congestive heart failure, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus OMIM:300049
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Congestive heart fa... OMIM:613426
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Patent ductus arteriosus OMIM:122430
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Ovarian Fibrothecoma
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... ORPHA:314478
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Patent ductus arteriosus, Aortic arch aneurysm ORPHA:1455
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Death in infancy, Arrhythmia ORPHA:157973
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Atransferrinemia
Congestive heart failure OMIM:209300
Akt2-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:79085
Aromatase Deficiency
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona... ORPHA:99050
Aorta Coarctation
Patent ductus arteriosus, Coarctation of the descending aortic arch, Hypoplastic aortic arch, Cor... ORPHA:1457
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Nephronophthisis 16
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:615382
Sudden Cardiac Failure, Infantile
Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocarditis OMIM:617222
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus OMIM:241310
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Aortic aneurysm ORPHA:261102
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Partial Atrioventricular Septal Defect
Palpitations, Anomalous pulmonary venous return, Angina pectoris, Atrial flutter, Mitral regurgit... ORPHA:1330
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Internal hemorrhage, Patent ductus arteriosus, Pulmonary embolism, C... ORPHA:90308
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial fibrillation, Patent ductus arteriosus, Sudden cardiac death, Congestive heart... ORPHA:1880
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Char Syndrome
Patent ductus arteriosus OMIM:169100
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:613355
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:99811
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... ORPHA:2795
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:261120
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Pregnancy Loss, Recurrent, Susceptibility To, 3
Recurrent spontaneous abortion OMIM:614391
Pregnancy Loss, Recurrent, Susceptibility To, 2
Recurrent spontaneous abortion OMIM:614390
Pregnancy Loss, Recurrent, Susceptibility To, 1
Recurrent spontaneous abortion OMIM:614389
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Aortic aneurysm, Aortic regurgitation ORPHA:98892
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus OMIM:610498
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:255160
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot, Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus OMIM:239711
Silver-Russell Syndrome 3
Patent ductus arteriosus OMIM:616489
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Abnormal cerebral art... ORPHA:90065
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure OMIM:300886
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Angina pectoris, Precocious atherosclerosis, Myocardia... OMIM:176670
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Tricus... ORPHA:275766
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:90796
Cednik Syndrome
Congestive heart failure ORPHA:66631
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy ORPHA:53296
Cidec-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435651
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure OMIM:618654
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus, Coarctation of aorta OMIM:618164
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Familial Atrial Myxoma
Tricuspid regurgitation, Vascular dilatation, Heart murmur, Dilatation of the cerebral artery, Co... ORPHA:615
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2184
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Barth Syndrome
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:302060
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus OMIM:617661
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... ORPHA:91348
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Craniofacial Dyssynostosis
Patent ductus arteriosus ORPHA:1516
Timothy Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Prolonged QT interval, Bradycardia OMIM:601005
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Patent ductus arteriosus, Vascular dilatation OMIM:220220
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Patent ductus arteriosus OMIM:618961
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Patent ductus arteriosus, Hypertension OMIM:613870
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
6P22 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:251046
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... ORPHA:90795
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus OMIM:617044
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:608406
Infantile Sialic Acid Storage Disease
Congestive heart failure, Death in childhood OMIM:269920
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus ORPHA:1338
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Pentasomy X
Patent ductus arteriosus ORPHA:11
Odontochondrodysplasia
Death in infancy, Patent ductus arteriosus ORPHA:166272
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Ischemic stroke, Aortic regurgitat... ORPHA:91387
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Pulmonary arterial hypertension, Patent ductus arteriosus, Hypertension OMIM:613623
Lipe-Related Familial Partial Lipodystrophy
Decreased serum leptin, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, ... ORPHA:435660
Cardiac Valvular Dysplasia, X-Linked
Mitral regurgitation, Tricuspid regurgitation, Congestive heart failure, Aortic regurgitation OMIM:314400
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism
Patent ductus arteriosus OMIM:601450
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Recombinant Chromosome 8 Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Patent ductus arteriosus OMIM:179613
Tetragametic Chimerism
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... ORPHA:199310
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus ORPHA:2863
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus ORPHA:2123
Primary Lipodystrophy
Angina pectoris, Hypertension, Type IV atherosclerotic lesion, Congestive heart failure, Hyperlip... ORPHA:90970
Mental Retardation, Autosomal Dominant 21
Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Anomalous pulmonary venous re... ORPHA:185
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus OMIM:618974
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycys... OMIM:604367
Babesiosis
Myocardial infarction, Congestive heart failure ORPHA:108
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus ORPHA:2547
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Congestive heart failure, Death in infancy, Hypertrophic cardiomyopathy ORPHA:1194
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Myocardial infarction, Abnormal atrioventr... ORPHA:732
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart failure, Tricuspid regurgita... ORPHA:2414
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Death in infancy, Patent ductus arteriosus, Tricuspid regurgit... ORPHA:1120
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Coronary artery atherosclerosis, Atherosclerosis, Hypertension, Hypertr... ORPHA:79083
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle, Overriding aorta, Per... ORPHA:3304
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormal testis morphology, Hypothyroidis... ORPHA:1227
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Patent ductus arteriosus, Vascular ring, Overriding aorta OMIM:601927
Diamond-Blackfan Anemia 6
Mitral regurgitation, Tetralogy of Fallot, Patent ductus arteriosus OMIM:612561
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Familial Partial Lipodystrophy, Dunnigan Type
Coronary artery atherosclerosis, Atherosclerosis, Hypertriglyceridemia, Congestive heart failure,... ORPHA:2348
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia OMIM:617397
Distal Monosomy 17Q
Patent ductus arteriosus ORPHA:1597
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Varicose veins, Patent ductus arteriosus, Arrhythmia OMIM:153400
Noonan Syndrome 8
Pulmonic stenosis, Mitral regurgitation, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:615355
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal superior vena cava morphology, Truncus arteriosus, ... ORPHA:3384
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... ORPHA:3130
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Pulmonary artery atresia, Tetralogy of Fallot, Double outlet right ventricle, Patent ductus arter... OMIM:618316
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Hypertriglyceridemia, Congestive heart failure, Prominent superficial veins... ORPHA:528
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Hypertension, Thoracic... OMIM:613834
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, Primary amenorrhe... ORPHA:247768
Li-Campeau Syndrome
Patent ductus arteriosus OMIM:619189
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Ssr4-Cdg
Patent ductus arteriosus ORPHA:370927
Holt-Oram Syndrome
Anomalous pulmonary venous return, Paroxysmal atrial fibrillation, Abnormal aortic morphology, Pa... ORPHA:392
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:1842
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Lethal Faciocardiomelic Dysplasia
Patent ductus arteriosus ORPHA:1972
Congenital Disorder Of Glycosylation, Type Ie
Patent ductus arteriosus, Telangiectasia OMIM:608799
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Epistaxis, Abn... ORPHA:774
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus OMIM:616867
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Tricuspid regurgitation OMIM:618652
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Supraventricular tachycardia with ... ORPHA:216694
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus ORPHA:452
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Intracranial hemorrhage, Aortic atherosclerotic lesion, Coronary artery ath... ORPHA:363618
Immune-Mediated Necrotizing Myopathy
Palpitations, Congestive heart failure, Raynaud phenomenon, Myocarditis ORPHA:206569
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus ORPHA:171839
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Arrhythmia OMIM:266500
Lessel-Kreienkamp Syndrome
Pulmonic stenosis, Patent ductus arteriosus OMIM:619149
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:2001
Hyperkalemic Periodic Paralysis
Congestive heart failure, Death in infancy, Death in early adulthood, Arrhythmia ORPHA:682
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Pericarditis ORPHA:163596
Pericardial And Diaphragmatic Defect
Palpitations, Tetralogy of Fallot, Patent ductus arteriosus, Mitral stenosis ORPHA:2847
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Pulmonic stenosis, Patent ductus arteriosus, Coarctation of aorta ORPHA:284169
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:212140
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent ductus arteriosus, Cardiomyopathy OMIM:616866
Hemochromatosis, Type 1
Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Congenital Rubella Syndrome
Patent ductus arteriosus ORPHA:290
Thanatophoric Dysplasia
Patent ductus arteriosus ORPHA:2655
Gm1-Gangliosidosis, Type I
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Cherry red spot of the macula... OMIM:230500
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure OMIM:166210
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus OMIM:618142
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Death in childhood, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:617303
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus OMIM:608104
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Cardiomyopathy, Myocarditis ORPHA:3386
Schimke Immuno-Osseous Dysplasia
Arteriosclerosis of small cerebral arteries, Ischemic stroke, Atherosclerosis, Hypertension, Cong... ORPHA:1830
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Cardiomyopathy ORPHA:52430
Capillary Malformation-Arteriovenous Malformation
Arteriovenous fistula, Cerebral arteriovenous malformation, Epistaxis, High-output congestive hea... ORPHA:137667
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Cerebral arteriovenous malformation, Lip telangiect... OMIM:610655
Atrioventricular Septal Defect 3
Midsystolic murmur, Hypertension, Congestive heart failure, First degree atrioventricular block, ... OMIM:600309
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced ejection fraction, Hyp... ORPHA:444013
Mulibrey Nanism
Congestive heart failure OMIM:253250
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Accelerated atherosclerosis, Supraventricular arrhythmia, Coronary artery... ORPHA:280365
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, Mitral ... ORPHA:324410
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
African Iron Overload
Congestive heart failure, Increased circulating cortisol level, Hepatic periportal necrosis ORPHA:139507
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Congestive heart fai... OMIM:171300
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus ORPHA:2412
Emanuel Syndrome
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Truncus arteriosus OMIM:609029
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Congestive heart failure, Shortened PR interval, Bradycardia, Cardiomyopathy OMIM:261740
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus OMIM:218350
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus ORPHA:93274
Ovarian Fibroma
Ovarian fibroma, Abnormality of the ovary, Gonadal calcification ORPHA:314473
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Vascular dilatation, Telangiectasia of the s... ORPHA:3342
Aneurysm Of Sinus Of Valsalva
Heart murmur, Congestive heart failure, Dilatation of the sinus of Valsalva, Aortic regurgitation ORPHA:1054
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Tatton-Brown-Rahman Syndrome
Supraventricular tachycardia with an accessory connection mediated pathway, Patent ductus arterio... ORPHA:404443
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus OMIM:618659
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus OMIM:613680
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90794
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus OMIM:243310
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy of Fal... ORPHA:251071
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus OMIM:613457
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Hypertension, Myocardial infarction, Congestive heart failur... ORPHA:183
Classic Multiminicore Myopathy
Congestive heart failure, Right ventricular failure ORPHA:324604
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure ORPHA:500533
Johnson Neuroectodermal Syndrome
Right aortic arch, Patent ductus arteriosus OMIM:147770
Transaldolase Deficiency
Patent ductus arteriosus, Telangiectasia, Coarctation of aorta OMIM:606003
Gm1 Gangliosidosis
Cherry red spot of the macula, Patent ductus arteriosus, Congestive heart failure, Cardiomyopathy ORPHA:354
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus OMIM:615009
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Patent ductus arteriosus, Death in childhood, Coarctation of aorta, Tetr... OMIM:600460
Prune Belly Syndrome
Patent ductus arteriosus OMIM:100100
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Cantu Syndrome
Patent ductus arteriosus OMIM:239850
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Fabry Disease
Arrhythmia, Angina pectoris, Hypertension, Myocardial infarction, Congestive heart failure, Trans... OMIM:301500
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:612938
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Ascending tubular aorta aneurysm, Patent ductus arteriosus, Congestive hea... OMIM:601808
Alstrom Syndrome
Hypertension, Atherosclerosis, Hypertriglyceridemia, Congestive heart failure, Dilated cardiomyop... OMIM:203800
Pediatric-Onset Graves Disease
Palpitations, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive heart failure ORPHA:525731
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Prune Belly Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2970
Phace Association
Arterial stenosis, Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta, Anomalous... OMIM:606519
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Arrhythmia ORPHA:33001
Ritscher-Schinzel Syndrome 2
Patent ductus arteriosus OMIM:300963
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Patent ductus arteriosus OMIM:614576
Distal Xq28 Microduplication Syndrome
Patent ductus arteriosus, Epistaxis ORPHA:293939
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vascu... ORPHA:727
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Congestive heart failure, Cardiomyopathy, Hepatic periportal necrosis ORPHA:26791
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus OMIM:619293
Trisomy 13
Patent ductus arteriosus ORPHA:3378
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Hyp... ORPHA:3464
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Decreased serum insulin-like growth factor 1, Hypergonadotropic ... OMIM:241080
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hy... ORPHA:99901
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus ORPHA:500159
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus OMIM:602482
Ethylene Glycol Poisoning
Hypotension, Renal tubular epithelial necrosis, Atrial fibrillation, Hypertension, Congestive hea... ORPHA:31826
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Pulmonic stenosis, Pulmonary arterial hypertension, Mitral regurgitatio... OMIM:612541
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Patent ductus arteriosus, Coronary artery atherosclerosis ORPHA:435638
Fanconi Anemia, Complementation Group B
Death in infancy, Patent ductus arteriosus, Coarctation of aorta OMIM:300514
Combined Oxidative Phosphorylation Deficiency 3
Concentric hypertrophic cardiomyopathy, Death in childhood, Patent ductus arteriosus, Dilated car... OMIM:610505
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Patent ductus arteriosu... ORPHA:1600
Emanuel Syndrome
Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Truncus arteriosus ORPHA:96170
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Cardiomyopathy ORPHA:746
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Renal artery atherosclerosis, Coronary artery stenosis, Angina pectoris... ORPHA:565612
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Elevated jugular venous pressure, Congestive heart failure, Portal hypertension, Card... ORPHA:465508
Char Syndrome
Patent ductus arteriosus ORPHA:46627
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Pulmonic stenosis, Patent ductus arteriosus OMIM:608149
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Tricuspid regurgitation, Congestive heart failure, Tachycardia, Pulmona... ORPHA:505248
Hardikar Syndrome
Portal hypertension, Patent ductus arteriosus, Pulmonary artery stenosis, Coarctation of aorta OMIM:612726
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus ORPHA:329224
Meacham Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Aortic valve stenosis, Coarctation o... ORPHA:3097
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Congestive heart failure, Hypertensive crisis, Telangiectasia of... ORPHA:220393
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Patent ductus arteriosus, Tricuspid regurgitation OMIM:618870
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus OMIM:609757
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Truncus arteriosus, Patent ductus arteriosus, Pulm... OMIM:601186
Yellow Fever
Hypotension, Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:99829
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Vascular dilatation, Congestive heart failure, Abnormal venous morphology, A... ORPHA:1900
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:609015
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Patent ductus arteriosus ORPHA:363444
Sotos Syndrome 1
Patent ductus arteriosus OMIM:117550
Colchicine Poisoning
Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Congestive heart failure, Myocarditis ORPHA:31824
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Death in infancy OMIM:619355
Meckel Syndrome, Type 7
Portal hypertension, Aortic valve stenosis, Patent ductus arteriosus OMIM:267010
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Eisenmenger Syndrome
Ventricular arrhythmia, Patent ductus arteriosus, Tricuspid regurgitation, Pulmonary arterial hyp... ORPHA:97214
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:261279
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Congestive heart failure, Mit... OMIM:608328
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Chops Syndrome
Patent ductus arteriosus OMIM:616368
Werner Syndrome
Atherosclerosis, Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive hear... ORPHA:902
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus OMIM:607143
Noonan Syndrome 10
Patent ductus arteriosus, Pulmonic stenosis, Mitral stenosis, Coarctation of aorta, Mitral regurg... OMIM:616564
Carpenter Syndrome 1
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Transposition of the great arte... OMIM:201000
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Abnormal response to human chorionic ... ORPHA:95699
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Aortic valve stenosis, Tetralogy of Fallot, Patent ductus arteri... ORPHA:210122
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Ventricular tachycardia, Atr... ORPHA:137675
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Congestive heart failure ORPHA:367
Noonan Syndrome 2
Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonic stenosis, Mitral stenosis, Co... OMIM:605275
Chromosome 9P Deletion Syndrome
Heart murmur, Patent ductus arteriosus OMIM:158170
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta OMIM:617260
Parkes Weber Syndrome
Arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, Abnormal lym... ORPHA:90307
Seckel Syndrome 10
Hypertriglyceridemia, Hypertension, Congestive heart failure, Abdominal aortic aneurysm OMIM:617253
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Peripheral pulmonary artery stenosis ORPHA:2712
Chromosome 6Pter-P24 Deletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Telangiectasia OMIM:612582
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Angina pectoris, Mitral regurgitati... ORPHA:324
Contractural Arachnodactyly, Congenital
Mitral regurgitation, Patent ductus arteriosus, Aortic root aneurysm OMIM:121050
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Trisomy 17P
Aortic valve stenosis, Patent ductus arteriosus ORPHA:261290
Kniest-Like Dysplasia, Lethal
Arrhythmia, Patent ductus arteriosus OMIM:245190
Trisomy 1Q
Patent ductus arteriosus ORPHA:261344
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Peripheral pulmonary artery stenosis, Vascular dilatation,... ORPHA:90349
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus ORPHA:77298
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus OMIM:609625
Transketolase Deficiency
Abnormal coronary artery course, Patent ductus arteriosus ORPHA:488618
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Patent ductus arteriosus, Cardiomyopathy OMIM:217980
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus ORPHA:1860
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus ORPHA:397709
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage ORPHA:33226
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Congestive heart failure ORPHA:3309
Ovarian Hyperstimulation Syndrome
Ovarian cyst, Increased circulating gonadotropin level, Hemorrhagic ovarian cyst, Enlarged polycy... ORPHA:64739
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Patent ductus arteriosus OMIM:612562
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Death in childhood, Patent ductus arteriosus, Hypertension OMIM:602535
Hypertrichotic Osteochondrodysplasia, Cantu Type
Patent ductus arteriosus, Hypertrophic cardiomyopathy ORPHA:1517
Chromosome 13Q33-Q34 Deletion Syndrome
Pulmonic stenosis, Patent ductus arteriosus OMIM:619148
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Cerebral arteriovenous ... OMIM:187300
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Heart murmur, Congestive heart failure, Death in childhood, Hypertrophic ca... OMIM:252500
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Bidirectional shunt, Patent ductus arteriosus, Elevated pulmonary arter... OMIM:619351
Distal Monosomy 10Q
Patent ductus arteriosus ORPHA:96148
Weill-Marchesani Syndrome 1
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus OMIM:277600
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Patent ductus arteriosus OMIM:220500
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Arterial stenosis, Vascular dilatation ORPHA:2637
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Pulmonic stenosis, Double outlet right ventricle, Patent ductus arteriosus OMIM:618223
Acrofacial Dysostosis, Cincinnati Type
Patent ductus arteriosus OMIM:616462
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:65286
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus ORPHA:457193
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Carney Complex, Type 1
Congestive heart failure OMIM:160980
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomyopathy OMIM:619259
Hereditary Orotic Aciduria
Patent ductus arteriosus ORPHA:30
Developmental Delay With Or Without Dysmorphic Facies And Autism
Patent ductus arteriosus, Coarctation of aorta OMIM:618454
Diamond-Blackfan Anemia 10
Patent ductus arteriosus OMIM:613309
Hypomandibular Faciocranial Dysostosis
Death in infancy, Patent ductus arteriosus ORPHA:1790
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Congenital Factor Vii Deficiency
Ovarian cyst, Menorrhagia ORPHA:327
Takenouchi-Kosaki Syndrome
Pulmonic stenosis, Patent ductus arteriosus OMIM:616737
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia, Oligomenorrhea, Hyperg... ORPHA:572333
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Tricuspid regurgitation, Pulmonic... OMIM:617506
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Thoracoabdominal Syndrome
Patent ductus arteriosus, Transposition of the great arteries OMIM:313850
Carney Complex
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Adrenoco... ORPHA:1359
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Right ventricular failure, Patent ductus art... ORPHA:99125
Kapur-Toriello Syndrome
Patent ductus arteriosus OMIM:244300
Recombinant 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pulmonary artery stenosis ORPHA:96167
C Syndrome
Patent ductus arteriosus OMIM:211750
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Aortic rupture OMIM:614557
Mucopolysaccharidosis, Type Ii
Congestive heart failure OMIM:309900
X-Linked Intellectual Disability, Nascimento Type
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Abnormal vena cava morphology, Do... ORPHA:163956
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Nephrogenic diabetes insipidus, Vaginal atresia, Decreased testicular s... OMIM:209900
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy OMIM:617403
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus ORPHA:363528
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Arterial dissection, Vascular dilatation, Cardiac ... ORPHA:60030
Oculoectodermal Syndrome
Transient ischemic attack, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Coarctation of ... OMIM:600268
Pallister-Hall Syndrome
Preductal coarctation of the aorta, Decreased circulating cortisol level, Neonatal death, Patent ... OMIM:146510
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy OMIM:242840
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus OMIM:259100
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Patent ductus arteriosus OMIM:141750
Ivic Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:147750
Phelan-Mcdermid Syndrome
Patent ductus arteriosus OMIM:606232
Distal Tetrasomy 15Q
Patent ductus arteriosus, Hypoplastic aortic arch ORPHA:314588
Lateral Meningocele Syndrome
Patent ductus arteriosus OMIM:130720
Avian Influenza
Congestive heart failure ORPHA:454836
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus OMIM:106260
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus OMIM:618162
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Cardiomyopathy, Aortic root aneurysm OMIM:135500
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Telangiectasia of the skin, Pulmonary embolism, Congestive heart fai... ORPHA:2346
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypertriglyceridemia, Patent ductus arteriosus, Restrictive cardiomyopathy ORPHA:369837
Leigh Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:506
9Q33.3Q34.11 Microdeletion Syndrome
Patent ductus arteriosus, Telangiectasia, Epistaxis ORPHA:495818
Histiocytosis-Lymphadenopathy Plus Syndrome
Patent ductus arteriosus, Left superior vena cava draining to coronary sinus, Pulmonic stenosis, ... OMIM:602782
Amoebiasis Due To Entamoeba Histolytica
Congestive heart failure, Constrictive pericarditis ORPHA:67
Microphthalmia, Syndromic 3
Patent ductus arteriosus OMIM:206900
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure OMIM:608779
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Patent ductus arteriosus ORPHA:86818
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus OMIM:104350
Tubular Renal Disease-Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Hyperaldosteronism ORPHA:73224
Heterotaxy, Visceral, 1, X-Linked
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