Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Hpgdtm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
Select physiological systems to view:
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

Embryo LacZ

LacZ images wholemount

8 Images

MicroCT E18.5

Embryo reconstruction

4 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.

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

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