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Gene: Hpgd MGI:108085

Gene Summary

Name:

hydroxyprostaglandin dehydrogenase 15 (NAD)

Synonyms:

15-PGDH

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Hpgd^{tm1b(EUCOMM)Hmgu}	HOM		Early adult	0.00

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Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	Ambiguous
Brain	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	Ambiguous
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	Ambiguous
Embryo	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	Ambiguous
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	Ambiguous
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	Ambiguous
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	Ambiguous
Forelimb	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	Ambiguous
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	Ambiguous
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	Ambiguous
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	Ambiguous
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	Ambiguous
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	Ambiguous
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	Ambiguous
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	Ambiguous
Midbrain	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Ambiguous
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	Ambiguous
Skin	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	Ambiguous
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	Ambiguous
Tail	N/A	homozygote	Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

MicroCT E18.5

Embryo reconstruction

4 Images

View images

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.

Human diseases associated with Hpgd (5 diseases)
Human diseases predicted to be associated with Hpgd (758 diseases)

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

Disease	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
Isolated Congenital Digital Clubbing		ORPHA:217059
Cranio-Osteoarthropathy		ORPHA:1525

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Ff	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613286
Patent Ductus Arteriosus 3	Patent ductus arteriosus	OMIM:617039
Patent Ductus Arteriosus 1	Patent ductus arteriosus	OMIM:607411
Cardiac Lipidosis, Familial	Death in infancy, Congestive heart failure, Cardiomyopathy	OMIM:212080
Patent Ductus Arteriosus 2	Patent ductus arteriosus	OMIM:617035
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:125520
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Cardiomyopathy, Dilated, 1B	Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra...	OMIM:600884
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Invasive Mole	Menometrorrhagia	ORPHA:99925
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus	ORPHA:1208
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red...	OMIM:604765
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:611880
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Left ventricular outfl...	OMIM:613255
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car...	OMIM:613642
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Coarctation of aorta	OMIM:601612
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Myocardial infarction, Congestive heart failure, Hypertension, Hypercholest...	OMIM:615703
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:254351
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Aorto-Ventricular Tunnel	Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu...	ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Combined Oxidative Phosphorylation Deficiency 8	Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Death in ...	OMIM:614096
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Combined Oxidative Phosphorylation Deficiency 17	Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood	OMIM:615440
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy...	OMIM:619751
Familial Aortic Dissection	Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac...	ORPHA:229
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Grange Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis	ORPHA:79094
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra...	OMIM:614980
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Atrial Septal Defect 2	Aortic regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis	OMIM:607941
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter...	ORPHA:60041
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus	OMIM:614432
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff	Patent ductus arteriosus	OMIM:619519
Non-Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141179
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Pulmonic stenosis	OMIM:249670
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Pseudocoarctation of the aorta	ORPHA:228190
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia...	ORPHA:860
Megabladder, Congenital	Patent ductus arteriosus, Left ventricular noncompaction cardiomyopathy	OMIM:618719
Fixed Subaortic Stenosis	Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ...	ORPHA:3092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Hepatic Adenomas, Familial	Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Sandhoff Disease	Cherry red spot of the macula, Congestive heart failure	ORPHA:796
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Analbuminemia	Hypercholesterolemia, Patent ductus arteriosus, Hypotension	OMIM:616000
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia	OMIM:126320
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Aorta Coarctation	Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a...	ORPHA:1457
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Coronary artery calcification, Congestive heart f...	OMIM:614473
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Death in infancy, Patent ductus arteriosus, Double outlet right ventricle, Anomalous origin of le...	OMIM:618845
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie...	ORPHA:141184
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m...	ORPHA:314478
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Pseudocoarctation of the aorta	OMIM:604381
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov...	ORPHA:280356
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Bradycardia	OMIM:616276
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Stroke-like episode, Abnormal left vent...	OMIM:540000
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation	Patent ductus arteriosus	OMIM:122430
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow...	ORPHA:99050
Chronic Intestinal Pseudoobstruction	Patent ductus arteriosus	ORPHA:2978
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary...	OMIM:228300
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Patent ductus arteriosus	ORPHA:1952
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Patent ductus arteriosus, Ri...	ORPHA:1880
Adams-Oliver Syndrome 4	Patent ductus arteriosus	OMIM:615297
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Patent ductus arteriosus	OMIM:610498
Distal 7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic aneurysm	ORPHA:261102
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Atransferrinemia	Congestive heart failure	OMIM:209300
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy	ORPHA:2022
Congenital Muscular Dystrophy Due To Lmna Mutation	Death in infancy, Arrhythmia, Congestive heart failure	ORPHA:157973
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus	OMIM:619717
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
Partial Atrioventricular Septal Defect	Atrial flutter, Transient ischemic attack, Angina pectoris, Patent ductus arteriosus, Anomalous p...	ORPHA:1330
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Death in early adulthood, Right axis deviation, Elevated jugular venous pressure, Congestive hear...	OMIM:255160
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Char Syndrome	Patent ductus arteriosus	OMIM:169100
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure	OMIM:616794
Nephronophthisis 16	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis	OMIM:615382
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi...	ORPHA:90308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:608099
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus	ORPHA:99811
Cednik Syndrome	Congestive heart failure, Stroke	ORPHA:66631
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Hemochromatosis, Type 2A	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:261120
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis	ORPHA:2248
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diab...	ORPHA:79085
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus	OMIM:615147
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:618234
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms...	ORPHA:2299
Periventricular Nodular Heterotopia	Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm	ORPHA:98892
Familial Atrial Myxoma	Tricuspid regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral arter...	ORPHA:615
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Zimmermann-Laband Syndrome 3	Patent ductus arteriosus	OMIM:618658
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Cardiac arrest	ORPHA:49827
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre...	OMIM:176670
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Dilated cardiomyopathy	ORPHA:206546
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy	ORPHA:324588
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Congenital Myopathy 8	Congestive heart failure	OMIM:618654
Arterial Calcification, Generalized, Of Infancy, 1	Coronary artery calcification, Myocardial infarction, Carotid artery calcification, Congestive he...	OMIM:208000
Ciliary Dyskinesia, Primary, 40	Right aortic arch, Patent ductus arteriosus, Interrupted inferior vena cava with azygous continua...	OMIM:618300
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyop...	OMIM:300257
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f...	ORPHA:99095
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Stroke, Death in childhood, H...	OMIM:611126
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Scimitar Syndrome	Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Descendi...	ORPHA:185
Cardiomyopathy, Familial Hypertrophic, 4	Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Sudden cardiac de...	OMIM:115197
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Congenital Myopathy 11	Patent ductus arteriosus	OMIM:619967
Hemochromatosis, Type 2B	Congestive heart failure, Cardiomyopathy	OMIM:613313
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Atrial Septal Defect, Ostium Primum Type	Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s...	ORPHA:99106
Timothy Syndrome	Prolonged QT interval, Patent ductus arteriosus, Ventricular tachycardia, Atrioventricular block,...	OMIM:601005
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:91130
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation	OMIM:314400
Dandy-Walker Malformation With Postaxial Polydactyly	Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation	OMIM:220220
Estrogen Resistance	Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame...	OMIM:615363
Cardiac Diverticulum	Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul...	ORPHA:1686
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure	OMIM:300886
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Patent ductus arteriosus	ORPHA:1516
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Patent ductus arteriosus	ORPHA:1338
6P22 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:251046
Pentasomy X	Patent ductus arteriosus	ORPHA:11
Infantile Sialic Acid Storage Disease	Congestive heart failure, Death in childhood	OMIM:269920
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia	ORPHA:85446
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor...	ORPHA:91387
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Congestive heart failure, Hypertrophic cardiomyopathy, Stroke-like episode	ORPHA:70472
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Patent ductus arteriosus, Tachycardia	OMIM:613870
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Patent ductus arteriosus, Death in childhood	OMIM:618961
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Congest...	ORPHA:439
Global Developmental Delay With Or Without Impaired Intellectual Development	Patent ductus arteriosus	OMIM:618330
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic sten...	ORPHA:2414
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous...	ORPHA:363705
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati...	ORPHA:980
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Clitoral hypertrophy, Premature thelarc...	ORPHA:90795
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Laubry-Pezzi Syndrome	Aortic regurgitation, Abnormal coronary artery morphology, Mildly reduced left ventricular ejecti...	ORPHA:99094
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy	OMIM:606703
Odontochondrodysplasia	Death in infancy, Patent ductus arteriosus	ORPHA:166272
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis	OMIM:179613
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation	ORPHA:53721
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Coarctation of aorta	OMIM:615502
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Li-Ghorbani-Weisz-Hubshman Syndrome	Patent ductus arteriosus	OMIM:618974
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus	ORPHA:2863
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Patent ductus arteriosus, Anomalous pulmonary venous r...	ORPHA:1120
Bardet-Biedl Syndrome 19	Patent ductus arteriosus	OMIM:615996
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:1194
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Patent ductus arteriosus, Overriding aorta, Vascular ring	OMIM:601927
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Li-Campeau Syndrome	Patent ductus arteriosus	OMIM:619189
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus	ORPHA:2123
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Cardiomyopathy, Patent ductus arteriosus, Congestive heart failure	OMIM:616866
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Stroke	ORPHA:3077
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrop...	ORPHA:79083
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent ductus arteriosus	OMIM:616867
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina...	ORPHA:247768
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus	OMIM:619797
Babesiosis	Congestive heart failure, Myocardial infarction	ORPHA:108
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus	ORPHA:2547
Meacham Syndrome	Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctatio...	OMIM:608978
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle, Tet...	ORPHA:3304
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans...	ORPHA:774
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus	OMIM:617044
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Hypertrophic cardiomyopathy, Coronary artery athe...	ORPHA:2348
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At...	ORPHA:392
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Tetralogy of Fallot, Mitral regurgitation	OMIM:612561
Neurooculocardiogenitourinary Syndrome	Patent ductus arteriosus, Tricuspid regurgitation	OMIM:618652
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure	ORPHA:261519
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus	OMIM:617661
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Dilatation of the sinus of ...	ORPHA:1054
Congenital Disorder Of Glycosylation, Type Ih	Neonatal death, Death in infancy, Patent ductus arteriosus	OMIM:608104
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Pulmonic stenosis	OMIM:619149
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Patent ductus arteriosus, Hypertension, Second degree atrioventricular block, P...	OMIM:617021
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis	OMIM:615355
Dk1-Cdg	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:91131
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:212140
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Patent ductus arteriosus	ORPHA:452
Congenital Generalized Lipodystrophy	Prominent superficial veins, Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia...	ORPHA:528
Hyperkalemic Periodic Paralysis	Death in infancy, Arrhythmia, Death in early adulthood, Congestive heart failure	ORPHA:682
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho...	ORPHA:3384
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, High-output con...	ORPHA:137667
Ssr4-Cdg	Patent ductus arteriosus	ORPHA:370927
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis	ORPHA:163596
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Hypomandibular Faciocranial Dysostosis	Patent ductus arteriosus	OMIM:241310
Congenital Disorder Of Glycosylation, Type Ie	Patent ductus arteriosus, Telangiectasia	OMIM:608799
Distal Deletion 17Q	Patent ductus arteriosus	ORPHA:1597
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta	ORPHA:284169
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus	ORPHA:171839
Bone Dysplasia, Lethal Holmgren Type	Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1842
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations	ORPHA:206569
Lethal Faciocardiomelic Dysplasia	Patent ductus arteriosus	ORPHA:1972
Chromosome 5Q12 Deletion Syndrome	Patent ductus arteriosus, Hypotension	OMIM:615668
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard...	OMIM:605676
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Tetralogy of Fallot, Mitral stenosis, Palpitations	ORPHA:2847
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta	OMIM:614857
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:2001
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Severely r...	ORPHA:444013
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Arteriosclerosis of small ce...	ORPHA:1830
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic roo...	ORPHA:363618
Ovarian Fibroma	Gonadal calcification, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Death in childhood	OMIM:612938
Hemochromatosis, Type 1	Cardiomyopathy, Arrhythmia, Congestive heart failure, Telangiectasia	OMIM:235200
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Mulibrey Nanism	Congestive heart failure	OMIM:253250
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure	OMIM:266500
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus	ORPHA:2412
Dietary Iron Overload Disease	Hepatic periportal necrosis, Congestive heart failure, Increased circulating cortisol level	ORPHA:139507
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Aortic v...	ORPHA:324410
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Patent ductus arteriosus, Tetralogy of Fallot, Double outlet right vent...	OMIM:618316
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Congestive heart failure	ORPHA:500533
Mucopolysaccharidosis-Plus Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Congestive heart failure, Death in childhood	OMIM:617303
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pu...	ORPHA:555877
Werner Syndrome	Miscarriage, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morpho...	ORPHA:902
Gm1-Gangliosidosis, Type I	Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Cherry red spot of the macula...	OMIM:230500
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:3386
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Congenital Rubella Syndrome	Patent ductus arteriosus	ORPHA:290
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Patent ductus arteriosus, First degree atrioventricular block	ORPHA:589821
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Hypertriglyceridemia, Abnormal atrioventricular conduction, Precocio...	ORPHA:280365
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona...	OMIM:610655
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm...	ORPHA:3342
Fabry Disease	Transient ischemic attack, Angina pectoris, Myocardial infarction, Congestive heart failure, Hype...	OMIM:301500
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus	OMIM:618142
Schuurs-Hoeijmakers Syndrome	Patent ductus arteriosus	OMIM:615009
Aarskog-Scott Syndrome	Congestive heart failure	ORPHA:915
Pseudo-Torch Syndrome 2	Patent ductus arteriosus, Bradycardia, Cerebral hemorrhage	OMIM:617397
Thanatophoric Dysplasia	Patent ductus arteriosus	ORPHA:2655
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Patent ductus arteriosus	OMIM:618659
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus	OMIM:218350
Gm1 Gangliosidosis	Cherry red spot of the macula, Patent ductus arteriosus, Congestive heart failure, Cardiomyopathy	ORPHA:354
Prune Belly Syndrome	Patent ductus arteriosus	OMIM:100100
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus	ORPHA:93274
Classic Multiminicore Myopathy	Congestive heart failure, Right ventricular failure	ORPHA:324604
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus	OMIM:617751
Carpenter Syndrome	Patent ductus arteriosus	ORPHA:65759
Monosomy 18Q	Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa...	ORPHA:1600
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy...	ORPHA:99901
Tetrasomy 15Q26	Patent ductus arteriosus, Hypoplastic aortic arch	OMIM:614846
Williams-Beuren Region Duplication Syndrome	Patent ductus arteriosus	OMIM:609757
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus	OMIM:300048
Deafness-Craniofacial Syndrome	Patent ductus arteriosus	ORPHA:3241
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Coarctation of aorta, Neonatal death, Pulmonic stenosis, Pulmonary arte...	OMIM:601186
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction, Congestive...	ORPHA:183
Baraitser-Winter Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis	OMIM:243310
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent ductus arteriosus	ORPHA:500159
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An...	OMIM:619657
Alstrom Syndrome	Hypertriglyceridemia, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Atheroscler...	OMIM:203800
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus	OMIM:617516
Prune Belly Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	ORPHA:2970
8P23.1 Microdeletion Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Transposition of...	ORPHA:251071
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Phace Association	Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc...	OMIM:606519
Chromosome 18Q Deletion Syndrome	Ascending tubular aorta aneurysm, Patent ductus arteriosus, Aortic valve stenosis, Congestive hea...	OMIM:601808
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Patent ductus arteriosus	OMIM:614576
Silver-Russell Syndrome 3	Patent ductus arteriosus	OMIM:616489
Cantu Syndrome	Patent ductus arteriosus	OMIM:239850
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatic periportal necrosis, Congestive heart failure, Arrhythmia	ORPHA:26791
Transaldolase Deficiency	Patent ductus arteriosus, Telangiectasia, Coarctation of aorta	OMIM:606003
Blepharophimosis-Impaired Intellectual Development Syndrome	Patent ductus arteriosus	OMIM:619293
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Tricuspid regurgitation	OMIM:618870
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency	OMIM:166210
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Patent ductus arteriosus	ORPHA:329224
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Epistaxis	ORPHA:293939
D-Glyceric Aciduria	Patent ductus arteriosus, Bradycardia	OMIM:220120
Chromosome 6Pter-P24 Deletion Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Telangiectasia	OMIM:612582
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Death in childhood, Tetr...	OMIM:600460
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus	OMIM:613680
Pontocerebellar Hypoplasia, Type 17	Patent ductus arteriosus	OMIM:619909
Emanuel Syndrome	Patent ductus arteriosus, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis	OMIM:609029
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	ORPHA:2328
Double Outlet Left Ventricle	Abnormal coronary artery course, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal ri...	ORPHA:3427
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Congestive heart failure, Pulmonary arterial hypertension	OMIM:616482
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Arrhythmia	ORPHA:33001
Lymphatic Malformation 13	Neonatal death, Pulmonary arterial hypertension, Patent ductus arteriosus, Mitral regurgitation	OMIM:620244
Seckel Syndrome 10	Hypertension, Hypertriglyceridemia, Abdominal aortic aneurysm, Congestive heart failure	OMIM:617253
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Renal t...	ORPHA:31826
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Hyperlipidemia, Cardiomyopathy, Low-output congestive heart failure, Renal arter...	ORPHA:565612
Fanconi Anemia, Complementation Group B	Death in infancy, Patent ductus arteriosus, Coarctation of aorta	OMIM:300514
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
3P25.3 Microdeletion Syndrome	Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic stenosis	ORPHA:435638
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure	ORPHA:75564
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardia, Tricuspid regurgita...	ORPHA:97214
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hypertension, Hypertensi...	ORPHA:220393
Char Syndrome	Patent ductus arteriosus	ORPHA:46627
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Dilated cardiomyopathy, Portal hypertension	ORPHA:367
Isotretinoin-Like Syndrome	Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the...	ORPHA:2306
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Trisomy 13	Patent ductus arteriosus	ORPHA:3378
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Congestive heart failure, Cardiomyopathy, Arrhythmia, Elevated jugular venou...	ORPHA:465508
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosis	OMIM:608149
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Arrhythmia	ORPHA:746
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	OMIM:609015
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:2519
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle	OMIM:614886
Hypomandibular Faciocranial Dysostosis	Death in infancy, Patent ductus arteriosus	ORPHA:1790
Heterotaxy, Visceral, 12, Autosomal	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex...	OMIM:619702
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Arterial rupture, Aortic dissection, Arterial dissection, Abnormal veno...	ORPHA:1900
Meacham Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a...	ORPHA:3097
Emanuel Syndrome	Patent ductus arteriosus, Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis	ORPHA:96170
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Mitral ...	ORPHA:505248
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Patent ductus arteriosus	OMIM:220500
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Patent ductus arteriosus, Tricuspid regurgitation	OMIM:612863
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Patent ductus arteriosus	OMIM:619769
Trisomy 17P	Patent ductus arteriosus, Aortic valve stenosis	ORPHA:261290
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Death in infancy, Congestive heart failure	OMIM:619355
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Restrictive cardiomyopathy, Patent ductus arteriosus	OMIM:615398
Avian Influenza	Congestive heart failure, Miscarriage	ORPHA:454836
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Shashi-Pena Syndrome	Patent ductus arteriosus, Dilation of Virchow-Robin spaces	OMIM:617190
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vasculitis, Retinal hemorrhage,...	ORPHA:33226
Carpenter Syndrome 1	Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the great arteries, Pulmonic sten...	OMIM:201000
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Patent ductus arteriosus	OMIM:617061
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Tetrasomy 5P	Congestive heart failure, Pulmonary arterial hypertension, Heart murmur	ORPHA:3309
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Transient ischemic attack, Angina pectoris, Tel...	ORPHA:324
Fanconi Anemia, Complementation Group U	Patent ductus arteriosus	OMIM:617247
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, Left-to-right shunt	ORPHA:363444
Contractural Arachnodactyly, Congenital	Mitral regurgitation, Patent ductus arteriosus, Aortic root aneurysm	OMIM:121050
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta	OMIM:617159
Lymphedema-Distichiasis Syndrome	Varicose veins, Patent ductus arteriosus, Tetralogy of Fallot, Arrhythmia	OMIM:153400
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Supravalvar pulmon...	OMIM:618164
Zaki Syndrome	Patent ductus arteriosus	OMIM:619648
Weill-Marchesani Syndrome 2	Congestive heart failure, Patent ductus arteriosus, Mitral regurgitation, Ascending aortic dissec...	OMIM:608328
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Meckel Syndrome, Type 7	Patent ductus arteriosus, Aortic valve stenosis, Portal hypertension	OMIM:267010
Intellectual Disability-Strabismus Syndrome	Patent ductus arteriosus	ORPHA:363528
Noonan Syndrome 2	Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ...	OMIM:605275
Noonan Syndrome 10	Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation...	OMIM:616564
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus	ORPHA:52055
17Q23.1Q23.2 Microdeletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:261279
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Peripheral pulmonary artery stenosis	ORPHA:2712
Martsolf Syndrome 1	Cardiomyopathy, Cardiac arrest, Congestive heart failure	OMIM:212720
Pseudo-Torch Syndrome 1	Patent ductus arteriosus	OMIM:251290
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Patent ductus arteriosus, Tetralogy of Fallot, Aortic valve sten...	ORPHA:210122
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Patent ductus arteriosus, Dilated cardiomyopathy, Concentric hypertrophic cardi...	OMIM:610505
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus	ORPHA:1860
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus	ORPHA:77298
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu...	ORPHA:2637
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus	OMIM:620327
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:612562
Trisomy 1Q	Patent ductus arteriosus	ORPHA:261344
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Heart murmur	OMIM:158170
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus	ORPHA:457193
Triosephosphate Isomerase Deficiency	Death in infancy, Congestive heart failure, Death in adolescence	OMIM:615512
Wiedemann-Steiner Syndrome	Patent ductus arteriosus	OMIM:605130
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Peripheral pulmonary artery...	OMIM:123700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Pulmonary insufficiency, Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous p...	OMIM:265380
Gorlin-Chaudhry-Moss Syndrome	Patent ductus arteriosus	ORPHA:2095
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Coronary artery fistula, Patent ductus arteriosus	OMIM:620024
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Patent ductus arteriosus, Thoracic aorti...	OMIM:619351
Transketolase Deficiency	Patent ductus arteriosus, Abnormal coronary artery course	ORPHA:488618
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta,...	OMIM:617506
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Patent ductus arteriosus, Aortic valve stenosis, Portal hypertension	OMIM:208540
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Cardiomyopathy, Patent ductus arteriosus	OMIM:217980
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Patent ductus arteriosus, Partial anomalous pulmonary venous retu...	OMIM:619343
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Congestive heart failure	OMIM:608779
Hereditary Orotic Aciduria	Patent ductus arteriosus	ORPHA:30
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Patent ductus arteriosus	OMIM:620113
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus	OMIM:106260
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Death in infancy, Patent ductus arteriosus, Bradycardia	OMIM:617248
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure	OMIM:619259
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Patent ductus arteriosus	ORPHA:397709
Congenital Disorder Of Glycosylation, Type Ig	Patent ductus arteriosus	OMIM:607143
Feingold Syndrome	Patent ductus arteriosus	ORPHA:1305
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:615895
Cantú Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1517
Axenfeld-Rieger Syndrome, Type 3	Patent ductus arteriosus	OMIM:602482
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta	OMIM:617260
Ritscher-Schinzel Syndrome 2	Patent ductus arteriosus, Pulmonary artery hypoplasia	OMIM:300963
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis	OMIM:277600
Chromosome 10Q26 Deletion Syndrome	Patent ductus arteriosus	OMIM:609625
Distal Triplication 15Q	Patent ductus arteriosus, Hypoplastic aortic arch	ORPHA:314588
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure	ORPHA:2505
Mirage Syndrome	Intracranial hemorrhage, Patent ductus arteriosus	OMIM:617053
Chromosome 13Q33-Q34 Deletion Syndrome	Patent ductus arteriosus, Pulmonic stenosis	OMIM:619148
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hypertension, Congestive heart failure	ORPHA:85450
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:65286
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus	OMIM:300472
Distal Deletion 10Q	Patent ductus arteriosus	ORPHA:96148
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure	OMIM:616271
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Pulmonic stenosis	OMIM:616737
Gm1-Gangliosidosis, Type Ii	Patent ductus arteriosus	OMIM:230600
Recombinant 8 Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Tetralogy of Fallot	ORPHA:96167
Sotos Syndrome	Patent ductus arteriosus	OMIM:117550
Thoracoabdominal Syndrome	Patent ductus arteriosus, Transposition of the great arteries	OMIM:313850
Cat Eye Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonic ...	OMIM:115470
Mgat2-Cdg	Reflex asystolic syncope, Patent ductus arteriosus, Arrhythmia	ORPHA:79329
Pallister-Hall Syndrome	Patent ductus arteriosus, Decreased circulating cortisol level, Preductal coarctation of the aort...	OMIM:146510
Atelis Syndrome 2	Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
White-Sutton Syndrome	Patent ductus arteriosus	OMIM:616364
X-Linked Intellectual Disability, Nascimento Type	Mitral stenosis, Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal vena cava mo...	ORPHA:163956
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai...	ORPHA:90349
Kawasaki Disease	Pericarditis, Congestive heart failure, Myocarditis, Vasculitis, Ascending tubular aorta aneurysm...	ORPHA:2331
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, ...	OMIM:270100
Kapur-Toriello Syndrome	Patent ductus arteriosus	OMIM:244300
Mucopolysaccharidosis, Type Ii	Congestive heart failure	OMIM:309900
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten...	ORPHA:99125
Koolen-De Vries Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Pulmonic stenosis	OMIM:610443
Leigh Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:506
Carney Complex, Type 1	Congestive heart failure	OMIM:160980
Lateral Meningocele Syndrome	Patent ductus arteriosus, Aortic aneurysm	OMIM:130720
Desmosterolosis	Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:35107
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Patent ductus arteriosus	OMIM:259100
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Heart murmur, Mitral regurgitation, Death in chil...	OMIM:252500
C Syndrome	Patent ductus arteriosus	OMIM:211750
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Death in childhood	OMIM:214100
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Hyperaldosteronism, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Congestive heart failure	ORPHA:67
Loeys-Dietz Syndrome	Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec...	ORPHA:60030
Neurodevelopmental Disorder With Spasticity And Poor Growth	Patent ductus arteriosus	OMIM:618076
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus	OMIM:277380
9Q33.3Q34.11 Microdeletion Syndrome	Patent ductus arteriosus, Epistaxis, Telangiectasia	ORPHA:495818
Heterotaxy, Visceral, 1, X-Linked	Mitral stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Dextrotransposition of the gr...	OMIM:306955
Phelan-Mcdermid Syndrome	Patent ductus arteriosus	OMIM:606232
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Patent ductus arteriosus, Hypertriglyceridemia	ORPHA:369837
Ivic Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:147750
De Barsy Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Persistent left superior vena cava, Prominent ...	ORPHA:2962
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus	OMIM:618005
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis	ORPHA:1556
Histiocytosis-Lymphadenopathy Plus Syndrome	Patent ductus arteriosus, Varicose veins, Pulmonic stenosis, Left superior vena cava draining to ...	OMIM:602782
Toriello-Carey Syndrome	Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulmonic stenosis, Tetralogy of F...	ORPHA:3338
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm...	ORPHA:464
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Patent ductus arteriosus, Pulmonic stenosis	OMIM:610759
Sweeney-Cox Syndrome	Patent ductus arteriosus	OMIM:617746
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Stillbirth	OMIM:616300
7Q31 Microdeletion Syndrome	Patent ductus arteriosus after birth at term	ORPHA:251061
Congenital Tracheomalacia	Patent ductus arteriosus, Partial anomalous pulmonary venous return, Right aortic arch, Abnormal ...	ORPHA:95430
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Aceruloplasminemia	Congestive heart failure	ORPHA:48818
Listeriosis	Pericarditis, Miscarriage, Congestive heart failure, Myocarditis, Stroke, Arteritis	ORPHA:533
Chops Syndrome	Patent ductus arteriosus, Anomalous pulmonary venous return	OMIM:616368
Alg12-Cdg	Patent ductus arteriosus, Hypocholesterolemia	ORPHA:79324
Brachytelephalangic Chondrodysplasia Punctata	Pulmonary artery stenosis, Patent ductus arteriosus	ORPHA:79345
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis	OMIM:618223
Short-Rib Thoracic Dysplasia 12	Neonatal death, Patent ductus arteriosus	OMIM:269860
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus	OMIM:104350
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Prominent superficial veins, Patent ductus arteriosus, Varicose veins, Mitral regurgitation, Pulm...	OMIM:612541
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Tricuspid regurgitation, Mitral regurgitation, Aortic rupture	OMIM:614557
Generalized Pustular Psoriasis	Congestive heart failure	ORPHA:247353
Mucopolysaccharidosis Type 1	Congestive heart failure, Hypertrophic cardiomyopathy	ORPHA:579
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Renovascular hypertension, Caro...	ORPHA:391487
Diamond-Blackfan Anemia 10	Patent ductus arteriosus	OMIM:613309
Acrofacial Dysostosis, Cincinnati Type	Patent ductus arteriosus	OMIM:616462
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte...	OMIM:610168
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Patent ductus arteriosus, Mitral regurgitation	ORPHA:457395
Oculoectodermal Syndrome	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Transient ischemic attack, Coarctation of ...	OMIM:600268
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus	ORPHA:86818
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Stroke	OMIM:618188
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Death in infancy, Congestive heart failure	OMIM:617156
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure	ORPHA:508542
Developmental Delay With Or Without Dysmorphic Facies And Autism	Pulmonary arterial hypertension, Patent ductus arteriosus, Coarctation of aorta	OMIM:618454
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Patent ductus arteriosus	OMIM:300968
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Dilatat...	ORPHA:284984
Robinow Syndrome, Autosomal Dominant 3	Pulmonary artery atresia, Patent ductus arteriosus, Tricuspid regurgitation	OMIM:616894
Loeys-Dietz Syndrome 1	Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an...	OMIM:609192
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Interrupted aortic arch, Coarctation of aorta	ORPHA:17
Trichohepatoneurodevelopmental Syndrome	Patent ductus arteriosus, Steatorrhea	OMIM:618268
Marfan Syndrome	Congestive heart failure, Descending aortic dissection, Dilatation of an abdominal artery, Ascend...	ORPHA:558
Desmosterolosis	Patent ductus arteriosus, Total anomalous pulmonary venous return	OMIM:602398
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, Interrupted aortic arch	ORPHA:250989
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Patent ductus arteriosus, Mitral regurgitation	OMIM:611962
Mosaic Trisomy 9	Patent ductus arteriosus	ORPHA:99776
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Patent ductus arteriosus, Hematochezia, Melena, Intestinal bleeding	ORPHA:79076
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge...	ORPHA:308552
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Patent ductus arteriosus, Aortic root aneurysm, Pulmonary arterial hype...	ORPHA:444077
Marshall-Smith Syndrome	Patent ductus arteriosus, Premature ventricular contraction, Hypertension, Death in childhood, Pu...	OMIM:602535
Abetalipoproteinemia	Congestive heart failure, Steatorrhea, Hypocholesterolemia	ORPHA:14
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus	OMIM:603467
Weaver Syndrome	Patent ductus arteriosus	OMIM:277590
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Heart murmur, Interrupted aortic arch	ORPHA:163979
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus	OMIM:613457
Geleophysic Dysplasia 1	Congestive heart failure, Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis	OMIM:231050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus	OMIM:614080
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus	OMIM:618162
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina...	OMIM:209900
Focal Dermal Hypoplasia	Patent ductus arteriosus, Telangiectasia of the skin	ORPHA:2092
Syndromic Diarrhea	Aortic regurgitation, Patent ductus arteriosus, Tetralogy of Fallot, Peripheral pulmonary artery ...	ORPHA:84064
Heart Defects, Congenital, And Other Congenital Anomalies	Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Interru...	OMIM:600001
Feingold Syndrome Type 1	Patent ductus arteriosus, Tricuspid stenosis, Interrupted aortic arch	ORPHA:391641
Vici Syndrome	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	OMIM:242840
Williams Syndrome	Abnormal cerebral vascular morphology, Myocardial infarction, Overriding aorta, Sudden cardiac de...	ORPHA:904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic root aneurysm, Peripheral pulmo...	ORPHA:280633
7Q11.23 Microduplication Syndrome	Patent ductus arteriosus, Aortic valve stenosis, Aortic aneurysm	ORPHA:96121
8P11.2 Deletion Syndrome	Patent ductus arteriosus	ORPHA:251066
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	ORPHA:2282
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Ascending tubular aorta ...	OMIM:154700
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus	ORPHA:276413
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Patent ductus arteriosus, Aortic valve stenosis	ORPHA:464311
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis	OMIM:609942
Ramos-Arroyo Syndrome	Patent ductus arteriosus	ORPHA:1051
Erdheim-Chester Disease	Xanthelasma, Congestive heart failure	ORPHA:35687
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation...	ORPHA:90348
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Bilateral superior vena cava with no bridging vein, Patent ductus arteri...	OMIM:618460
Holt-Oram Syndrome	Patent ductus arteriosus	OMIM:142900
Cutis Laxa, Autosomal Recessive, Type Iid	Right bundle branch block, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Congest...	OMIM:617403
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V...	ORPHA:91347
Opitz Gbbb Syndrome	Patent ductus arteriosus, Persistent left superior vena cava, Aortic root aneurysm, Coarctation o...	ORPHA:2745
Neutral Lipid Storage Myopathy	Cardiomyopathy, Hypertriglyceridemia, Congestive heart failure	ORPHA:98908
Atypical Werner Syndrome	Prominent superficial veins, Hypertriglyceridemia, Telangiectasia of the skin, Abnormal cerebral ...	ORPHA:79474
Ogden Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular tachycardia, Premature ventricul...	OMIM:300855
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Patent ductus arteriosus, Aortic valve stenosis	ORPHA:464306
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag...	OMIM:613795
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Interrupted aortic arch	OMIM:300712
Mckusick-Kaufman Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	ORPHA:2473
Aymé-Gripp Syndrome	Patent ductus arteriosus, Pericarditis	ORPHA:1272
Primary Sclerosing Cholangitis	Portal hypertension, Spider hemangioma, Congestive heart failure, Dilated superficial abdominal v...	ORPHA:171
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Patent ductus arteriosus, Pulmonic stenosis	OMIM:614609
Prader-Willi Syndrome Due To Translocation	Patent ductus arteriosus	ORPHA:177907
Mosaic Trisomy 16	Patent ductus arteriosus, Single coronary artery origin, Coarctation of aorta	ORPHA:1708
Distal Deletion 15Q	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno...	ORPHA:1596
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Cardiomyopathy, Patent ductus arteriosus, Aortic root aneurysm	OMIM:135500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Arterial rupture	OMIM:225400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral artery, ...	OMIM:619475
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta	OMIM:274000
Congenital Tracheal Stenosis	Ascending aorta hypoplasia, Patent ductus arteriosus, Preductal coarctation of the aorta, Pulmona...	ORPHA:141127
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pulmonary arterial hypertension	ORPHA:231222
3Mc Syndrome 1	Conjunctival telangiectasia, Patent ductus arteriosus	OMIM:257920
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Retinal arteriolar tortuosity, Patent ductus arteriosus, Abnormal ao...	ORPHA:567
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis	ORPHA:529962
Down Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous return, D...	OMIM:190685
Fontaine Progeroid Syndrome	Death in infancy, Prominent superficial veins, Tricuspid regurgitation, Patent ductus arteriosus,...	OMIM:612289
Smith-Lemli-Opitz Syndrome	Death in infancy, Patent ductus arteriosus, Coarctation of aorta, Hypertension, Hypocholesterolem...	OMIM:270400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus, Portal hypertension	OMIM:620005
Dominant Beta-Thalassemia	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:231226
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Patent ductus arteriosus	OMIM:213980
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Patent ductus arteriosus	OMIM:300868
African Trypanosomiasis	Abnormal EKG, Pericarditis, Miscarriage, Myocarditis, Congestive heart failure, Second degree atr...	ORPHA:3385
Knobloch Syndrome	Patent ductus arteriosus	ORPHA:1571
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the great arteries, Interru...	ORPHA:2255
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Hardikar Syndrome	Portal hypertension, Hematemesis, Pulmonary artery stenosis, Patent ductus arteriosus, Partial an...	OMIM:301068
Fanconi Anemia	Patent ductus arteriosus, Abnormal carotid artery morphology, Abnormal aortic morphology, Arterio...	ORPHA:84
Feingold Syndrome 1	Patent ductus arteriosus, Tricuspid stenosis, Interrupted aortic arch	OMIM:164280
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Mitral stenosis, Aortic valve stenosis	ORPHA:955
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Hypertension, Congestive heart failure	OMIM:181270
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus	OMIM:619934
Knobloch Syndrome 2	Patent ductus arteriosus	OMIM:618458
Myhre Syndrome	Hypertension, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta	OMIM:139210
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Arrhythmia, Hypertriglyceridemia, Death in adolescence	OMIM:256040
Specc1L-Related Hypertelorism Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Arrhythmia	ORPHA:1519
Frontometaphyseal Dysplasia 2	Patent ductus arteriosus, Pulmonic stenosis	OMIM:617137
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus	OMIM:300373
Diamond-Blackfan Anemia 1	Congestive heart failure, Tricuspid stenosis, Coarctation of aorta	OMIM:105650
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Total anomalous pulmonary venous return	ORPHA:487796
Cardiac-Urogenital Syndrome	Tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Interrupted aor...	OMIM:618280
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus	OMIM:227646
Coffin-Siris Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	ORPHA:1465
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Tricuspid regurgitation	ORPHA:261337
Holoprosencephaly 13, X-Linked	Patent ductus arteriosus, Double outlet right ventricle	OMIM:301043
Beta-Thalassemia Major	High-output congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:231214
Microphthalmia, Syndromic 3	Patent ductus arteriosus	OMIM:206900
Neu-Laxova Syndrome 1	Neonatal death, Patent ductus arteriosus, Stillbirth, Transposition of the great arteries	OMIM:256520
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:154400
Cranioectodermal Dysplasia 2	Hypertension, Patent ductus arteriosus	OMIM:613610
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Patent ductus arteriosus	OMIM:616975
Treacher-Collins Syndrome	Patent ductus arteriosus	ORPHA:861
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Patent ductus arteriosus	OMIM:300990
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Patent ductus arteriosus	ORPHA:1112
Restrictive Dermopathy 1	Neonatal death, Patent ductus arteriosus, Stillbirth	OMIM:275210
Hajdu-Cheney Syndrome	Patent ductus arteriosus	OMIM:102500
Arboleda-Tham Syndrome	Patent ductus arteriosus, Pulmonic stenosis	OMIM:616268
Zttk Syndrome	Aortic regurgitation, Patent ductus arteriosus	OMIM:617140
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane...	OMIM:612474
Distal Deletion 12Q	Patent ductus arteriosus	ORPHA:96149
Ctcf-Related Neurodevelopmental Disorder	Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Pulmonary arterial hyperten...	ORPHA:363611
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert...	OMIM:619534
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:619869
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Pu...	ORPHA:353281
Turnpenny-Fry Syndrome	Aortic regurgitation, Patent ductus arteriosus, Carotid artery tortuosity	OMIM:618371
Degcags Syndrome	Tachycardia, Patent ductus arteriosus, Pulmonic stenosis, Pulmonary arterial hypertension, Persis...	OMIM:619488
Paternal Uniparental Disomy Of Chromosome 6	Patent ductus arteriosus	ORPHA:96191
Smith-Lemli-Opitz Syndrome	Patent ductus arteriosus	ORPHA:818
Rubinstein-Taybi Syndrome 1	Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Aortic isthmus hypoplasia, Persist...	OMIM:180849
Meckel Syndrome, Type 1	Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta	OMIM:249000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Coarctation of aorta	OMIM:619480
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A...	OMIM:619472
1P36 Deletion Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Dilated cardiomyopathy, Telangiectasia, Tetralogy...	ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent ductus arteriosus, Left ventricular noncompaction cardiomyopathy	OMIM:300967
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Patent ductus arteriosus, Tricuspid regurgitation, Abnormal cardiac ventricular function	ORPHA:466791
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of ao...	ORPHA:508488
Microphthalmia, Syndromic 2	Patent ductus arteriosus, Hypoplastic aortic arch, Double outlet right ventricle, Pulmonic stenos...	OMIM:300166
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c...	ORPHA:99413
Turner Syndrome	Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c...	ORPHA:881
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, High urinary gonadotropin level, Increased c...	ORPHA:99226
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent ductus arteriosus, Epistaxis	OMIM:619841
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Tetralogy of Fallot, Interrupted aortic arch	ORPHA:138
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta	OMIM:163950
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Coarctation of aorta	OMIM:617088
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Ab...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cardiac conduction abnormality, Patent ductus arteriosus, Vascular ring, Coarctation of aorta, Ab...	ORPHA:353277
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Patent ductus arteriosus	OMIM:613355
Carpenter Syndrome 2	Patent ductus arteriosus, Tricuspid regurgitation, Transposition of the great arteries	OMIM:614976
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus	ORPHA:85276
Cerebrocostomandibular Syndrome	Patent ductus arteriosus	OMIM:117650
Knobloch Syndrome 1	Patent ductus arteriosus	OMIM:267750
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Patent ductus arteriosus, Dilated cardiomyopathy, Aortic root aneur...	OMIM:607872
Restrictive Dermopathy	Ascending tubular aorta aneurysm, Patent ductus arteriosus, Transposition of the great arteries	ORPHA:1662
Cohen-Gibson Syndrome	Patent ductus arteriosus	OMIM:617561
Carney Complex	Congestive heart failure, Hypertension, Dilatation of the cerebral artery, Increased circulating ...	ORPHA:1359
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Patent ductus arteriosus	ORPHA:3047
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the great arteries	OMIM:192350
Lacrimoauriculodentodigital Syndrome	Patent ductus arteriosus, Corneal neovascularization	ORPHA:2363
Liver Disease, Severe Congenital	Abnormal left ventricular function, Dilatation of the ventricular cavity, Patent ductus arteriosu...	OMIM:619991
Digeorge Syndrome	Patent ductus arteriosus, Interrupted aortic arch, Truncus arteriosus, Tetralogy of Fallot, Right...	OMIM:188400
Charge Syndrome	Overriding aorta, Patent ductus arteriosus, Right aortic arch, Pulmonic stenosis, Pulmonary arter...	OMIM:214800
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Anomalous origin of left subclavian artery, Pulmonic stenosis	ORPHA:438213
Simpson-Golabi-Behmel Syndrome, Type 1	Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary venous return, Transposition ...	OMIM:312870
Coffin-Siris Syndrome 1	Patent ductus arteriosus, Tetralogy of Fallot	OMIM:135900
Proboscis Lateralis	Patent ductus arteriosus	ORPHA:141099
Peters Plus Syndrome	Patent ductus arteriosus, Abnormal pulmonary vein morphology, Pulmonic stenosis	ORPHA:709
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus	ORPHA:434179
Mowat-Wilson Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Pulmonary artery sling, Pulmonic stenosis	OMIM:235730
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Patent ductus arteriosus after birth at term, Ischemic stroke, Abnormal common carotid artery mor...	ORPHA:500150
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Patent ductus arteriosus	ORPHA:480880
Orofaciodigital Syndrome Xiv	Patent ductus arteriosus	OMIM:615948
Pallister-Hall Syndrome	Patent ductus arteriosus, Coarctation of aorta	ORPHA:672
Peters-Plus Syndrome	Patent ductus arteriosus, Pulmonic stenosis	OMIM:261540
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Patent ductus arteriosus	OMIM:619522
Singleton-Merten Syndrome 1	Congestive heart failure, Aortic valve stenosis, Aortic arch calcification	OMIM:182250
Roberts-Sc Phocomelia Syndrome	Patent ductus arteriosus, Stillbirth	OMIM:268300
Townes-Brocks Syndrome	Patent ductus arteriosus, Tetralogy of Fallot	ORPHA:857
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pulmonary artery sling, Patent ductus arteriosus, Hyphema, Coarctation of aorta, Pulmonic stenosi...	ORPHA:261552
Mowat-Wilson Syndrome	Pulmonary artery sling, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Aortic...	ORPHA:2152
Sotos Syndrome	Patent ductus arteriosus, Aortic aneurysm	ORPHA:821
Pallister-Killian Syndrome	Patent ductus arteriosus, Coarctation of aorta, Stillbirth, Aortic valve stenosis, Hypertrophic c...	OMIM:601803
Craniofacial Microsomia 1	Right aortic arch, Patent ductus arteriosus, Tetralogy of Fallot, Coarctation of aorta	OMIM:164210
Alström Syndrome	Hypertriglyceridemia, Portal hypertension, Congestive heart failure, Hyperlipidemia, Dilated card...	ORPHA:64
Pachydermoperiostosis	Elevated circulating growth hormone concentration	ORPHA:2796
Cranio-Osteoarthropathy		ORPHA:1525
Isolated Congenital Digital Clubbing		ORPHA:217059
Digital Clubbing, Isolated Congenital		OMIM:119900

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hpgd

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hpgd.

No publications found that use IMPC mice or data for Hpgd.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hpgd^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Hpgd^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Hpgd^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Hpgd MGI:108085

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

Embryo LacZ

MicroCT E18.5

Human diseases caused by Hpgd mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data