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Gene: Hpgd MGI:108085

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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 Hpgdtm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

4 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

6 Images

View images
Embryo LacZ

LacZ images wholemount

8 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.

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
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... 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, Cardiomyopathy, Congestive heart failure OMIM:212080
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:607482
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Vascular dilatation, Im... OMIM:600884
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Invasive Mole
Menometrorrhagia ORPHA:99925
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Left Ventricular Noncompaction 1
Congestive heart failure, Left ventricular noncompaction cardiomyopathy, Palpitations, Mitral reg... OMIM:604169
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Reduced systolic function, Co... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:611880
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Mitral r... OMIM:615373
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Syncope, Pulmonary arterial hypertension, Incre... OMIM:615396
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperd... OMIM:613255
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Car... OMIM:613642
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Patent ductus arteriosus aft... OMIM:618782
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Patent ductus arteriosus, Neonatal death OMIM:601612
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Syn... OMIM:613697
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Distal 7Q11.23 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:254351
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Congestive heart failure, Left bundle branch block, Increased left ventri... OMIM:601493
Morbid Obesity And Spermatogenic Failure
Premature coronary artery atherosclerosis, Congestive heart failure, Hypercholesterolemia, Hypert... OMIM:615703
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Aorto-Ventricular Tunnel
Aortic root aneurysm, Abnormal coronary artery morphology, Congestive heart failure, Abnormal aor... ORPHA:3400
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Death in childhood, Death in infancy, Congestive heart failure OMIM:615440
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Increased left vent... OMIM:613424
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Neonatal death, Death in adolescence, Pulmonary arterial hypertension, ... OMIM:619751
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Grange Syndrome
Aortic regurgitation, Arterial stenosis, Hypertension, Patent ductus arteriosus ORPHA:79094
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection... ORPHA:229
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Congestive heart failure, Tetralogy of Fallot, Aorti... OMIM:614980
Atrial Septal Defect 2
Aortic regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis OMIM:607941
Hereditary Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141179
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart fai... OMIM:620635
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Patent ductus arteriosus OMIM:619519
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus ORPHA:228190
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus OMIM:618719
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis OMIM:249670
Familial Isolated Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:154
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Fixed Subaortic Stenosis
Aortic regurgitation, Congestive heart failure, Paroxysmal atrial fibrillation, Palpitations, Mit... ORPHA:3092
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Co... ORPHA:860
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Sandhoff Disease
Cherry red spot of the macula, Congestive heart failure ORPHA:796
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Sinus bradycardia OMIM:126320
Ramos-Arroyo Syndrome
Patent ductus arteriosus OMIM:122430
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Prominent superficial veins, Peripheral arteriovenous fistula, Conges... ORPHA:141184
Analbuminemia
Hypotension, Hypercholesterolemia, Patent ductus arteriosus OMIM:616000
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythmia, Hypertension ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Double outlet right ventricle... OMIM:618845
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Aorta Coarctation
Congestive heart failure, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persisten... ORPHA:1457
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus OMIM:604381
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Polycystic ovaries, Oligomenorrhea, Abnormal circulating ... ORPHA:280356
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Bradycardia OMIM:616276
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Stroke-like episode, Arrhythmia, Wolff-Parkinson-White syndrome, Abnorm... OMIM:540000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Chronic Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:2978
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... OMIM:619897
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Adams-Oliver Syndrome 4
Patent ductus arteriosus OMIM:615297
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Patent ductus arteriosus ORPHA:1952
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Arrhythmia, Atrial fibrillation, Sudden cardiac deat... ORPHA:1880
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Neonatal death OMIM:610498
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Pulmonary artery atresia, Abnormal descending a... ORPHA:99050
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Patent ductus arteriosus ORPHA:261102
Atransferrinemia
Congestive heart failure OMIM:209300
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Death in infancy, Congestive heart failure ORPHA:157973
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus OMIM:619717
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed... OMIM:614324
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Atrial flutter, Tetralogy of Fallot, Transient ischemic attack, Palpitatio... ORPHA:1330
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus ORPHA:99811
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy OMIM:615382
Char Syndrome
Patent ductus arteriosus OMIM:169100
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure OMIM:616794
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Venous insufficiency, ... ORPHA:90308
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:608099
Cednik Syndrome
Stroke, Congestive heart failure ORPHA:66631
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Aromatase Deficiency
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:261120
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Hypoplastic Left Heart Syndrome
Hypoplastic aortic arch, Mitral stenosis, Patent ductus arteriosus ORPHA:2248
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ... OMIM:176670
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus OMIM:615147
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome OMIM:618234
Ciliary Dyskinesia, Primary, 40
Congenitally corrected transposition of the great arteries, Right aortic arch, Patent ductus arte... OMIM:618300
Zimmermann-Laband Syndrome 3
Patent ductus arteriosus OMIM:618658
Familial Atrial Myxoma
Congestive heart failure, Tricuspid regurgitation, Dilatation of the cerebral artery, Vascular di... ORPHA:615
Partial Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ... ORPHA:90797
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Periventricular Nodular Heterotopia
Aortic regurgitation, Aortic aneurysm, Patent ductus arteriosus ORPHA:98892
Aortic Arch Interruption
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Shock, Abnormal ascendin... ORPHA:2299
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave... ORPHA:98909
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Cardiac arrest, Stroke, Congestive heart failure ORPHA:49827
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... ORPHA:90065
Familial Cutaneous Collagenoma
Angina pectoris, Cardiomyopathy, Congestive heart failure ORPHA:53296
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:79085
Periventricular Nodular Heterotopia 1
Stroke, Patent ductus arteriosus, Cerebral hemorrhage OMIM:300049
Congenital Gerbode Defect
Elevated right atrial pressure, Right ventricular failure, Holosystolic murmur, Tricuspid regurgi... ORPHA:99095
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Congenital Myopathy 8
Congestive heart failure OMIM:618654
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Atrial Septal Defect, Ostium Primum Type
Fixed splitting of the second heart sound, Atrioventricular block, Atrial flutter, Right-to-left ... ORPHA:99106
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Death in childhood... OMIM:611126
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
Scimitar Syndrome
Descending aorta hypoplasia, Pulmonary artery hypoplasia, Congestive heart failure, Anomalous ori... ORPHA:185
Congenital Myopathy 11
Patent ductus arteriosus OMIM:619967
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Tricuspid regurgit... OMIM:613426
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Pulmonary arterial hypertension, Ventricular tachyca... OMIM:601005
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Congestive heart failure OMIM:314400
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia OMIM:619048
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Congestive heart fai... ORPHA:2414
Cardiac Diverticulum
Aortic valve stenosis, Premature ventricular contraction, Arrhythmia, Ventricular fibrillation, P... ORPHA:1686
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Patent ductus arteriosus ORPHA:1516
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure OMIM:300886
6P22 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:251046
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Patent ductus arteriosus ORPHA:1338
Infantile Sialic Acid Storage Disease
Death in childhood, Congestive heart failure OMIM:269920
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Pentasomy X
Patent ductus arteriosus ORPHA:11
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Hypertension, Patent ductus arteriosus OMIM:613870
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellu... ORPHA:91387
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypertrophic cardiomyopathy, Stroke-like episode, Congestive heart failure ORPHA:70472
Non-Functioning Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:94080
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... OMIM:171420
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Patent ductus arteriosus, Death in childhood OMIM:618961
Global Developmental Delay With Or Without Impaired Intellectual Development
Patent ductus arteriosus OMIM:618330
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal coronary artery morphology, Congestive heart failure, Abnormal EKG, Redu... ORPHA:980
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Prolonged QT inte... OMIM:610198
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Precocious puberty, Elevated circulating 17-hydroxyprogesterone concentrati... ORPHA:90795
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Abnormal cerebral vascular morphology, Conges... ORPHA:363705
Odontochondrodysplasia
Patent ductus arteriosus, Death in infancy ORPHA:166272
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:179613
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Intellectual Developmental Disorder, Autosomal Dominant 21
Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Congestive heart failure ORPHA:53721
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Cardiomyopathy, Congestive heart failure OMIM:616866
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Short Stature-Wormian Bones-Dextrocardia Syndrome
Patent ductus arteriosus ORPHA:2863
Li-Ghorbani-Weisz-Hubshman Syndrome
Patent ductus arteriosus OMIM:618974
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Vascular ring OMIM:601927
Bardet-Biedl Syndrome 19
Patent ductus arteriosus OMIM:615996
Li-Campeau Syndrome
Patent ductus arteriosus OMIM:619189
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent ductus arteriosus OMIM:616867
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Death in infancy, Coarctation of aorta, Patent ductus arteriosus, Anomal... ORPHA:1120
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus ORPHA:2123
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Arrhythmia, Death in infancy, Congestive heart failure ORPHA:1194
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Oligomenorr... ORPHA:435651
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
Babesiosis
Myocardial infarction, Congestive heart failure ORPHA:108
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Stroke, Congestive heart failure ORPHA:3077
Danon Disease
Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricular block, Increased Q... OMIM:300257
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,... ORPHA:79083
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus ORPHA:2547
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Stroke, Heart murmur, Dilatation of the sinus of ... ORPHA:1054
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Patent ductus arteriosus OMIM:619797
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Short Stature, Developmental Delay, And Congenital Heart Defects
Patent ductus arteriosus OMIM:617044
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve... ORPHA:3304
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent ductus arteriosus OMIM:618652
Congenitally Corrected Transposition Of The Great Arteries
Arrhythmia, Double aortic arch, Patent ductus arteriosus, Heart block, Aortic regurgitation, Thir... ORPHA:216694
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Patent ductus arteriosus, Mitral regurgitation OMIM:612561
Meacham Syndrome
Tetralogy of Fallot, Scimitar anomaly, Death in childhood, Death in infancy, Neonatal death, Righ... OMIM:608978
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Death in infancy, Neonatal death OMIM:608104
Lessel-Kreienkamp Syndrome
Patent ductus arteriosus, Pulmonic stenosis OMIM:619149
Holt-Oram Syndrome
Atrioventricular block, Paroxysmal atrial fibrillation, Abnormal aortic morphology, First degree ... ORPHA:392
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure ORPHA:261519
Familial Partial Lipodystrophy, Dunnigan Type
Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Coronary artery atheroscl... ORPHA:2348
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Overriding aorta, Pulmonary arterial hypertension, Hyperten... OMIM:617021
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Patent ductus arteriosus OMIM:617661
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis OMIM:615355
Long-Olsen-Distelmaier Syndrome
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Death in childhood, ... OMIM:620609
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Death in infancy ORPHA:452
Dk1-Cdg
Arrhythmia, Dilated cardiomyopathy, Congestive heart failure ORPHA:91131
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiomyopathy, Congestive heart failure OMIM:212140
Ssr4-Cdg
Patent ductus arteriosus ORPHA:370927
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Congestive heart failure, Cerebral ischemia, High-output c... ORPHA:137667
Barth Syndrome
Dilated cardiomyopathy, Elevated monolysocardiolipin/cardiolipin ratio, Congestive heart failure,... OMIM:302060
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Hb Bart'S Hydrops Fetalis
Pericarditis, Congestive heart failure ORPHA:163596
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy, Hypercholesterolemia, Prominent superficia... ORPHA:528
Hyperkalemic Periodic Paralysis
Arrhythmia, Death in early adulthood, Death in infancy, Congestive heart failure ORPHA:682
Congenital Disorder Of Glycosylation, Type Ie
Telangiectasia, Patent ductus arteriosus OMIM:608799
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus OMIM:241310
Truncus Arteriosus
Aortic regurgitation, Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Pulm... ORPHA:3384
Chromosome 5Q12 Deletion Syndrome
Hypotension, Patent ductus arteriosus OMIM:615668
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis ORPHA:284169
Distal Deletion 17Q
Patent ductus arteriosus ORPHA:1597
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Patent ductus arteriosus ORPHA:171839
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Death in early adulthood, Death in adolescence,... OMIM:605676
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Palpitations, Mitral stenosis ORPHA:2847
Lethal Faciocardiomelic Dysplasia
Patent ductus arteriosus ORPHA:1972
Immune-Mediated Necrotizing Myopathy
Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure ORPHA:206569
Bone Dysplasia, Lethal Holmgren Type
Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1842
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:614857
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Atherosclerosis, Transient ischemic attack, Ischemic stroke, Cerebral i... ORPHA:1830
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear... ORPHA:444013
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Pulmonary insufficiency, Pat... ORPHA:555877
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Death in childhood OMIM:612938
Hemochromatosis, Type 1
Telangiectasia, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:235200
Pheochromocytoma
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... OMIM:171300
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... ORPHA:363618
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus ORPHA:2412
Mulibrey Nanism
Congestive heart failure OMIM:253250
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Pulmonary artery atresia, Double outlet right ventricle, Patent ductus arter... OMIM:618316
American Trypanosomiasis
Myocarditis, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:3386
Tatton-Brown-Rahman Syndrome
Aortic root aneurysm, Tricuspid regurgitation, Mitral regurgitation, Supraventricular tachycardia... ORPHA:404443
Graves Disease
Congestive heart failure OMIM:275000
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure ORPHA:500533
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Death in childhood, Congestive heart failure OMIM:617303
Werner Syndrome
Abnormal cerebral vascular morphology, Congestive heart failure, Atherosclerosis, Pulmonary arter... ORPHA:902
Schuurs-Hoeijmakers Syndrome
Patent ductus arteriosus OMIM:615009
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Patent ductus arteriosus OMIM:618142
Congenital Rubella Syndrome
Patent ductus arteriosus ORPHA:290
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Congestive he... OMIM:230500
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Patent ductus arteriosus ORPHA:589821
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Hypertension, M... OMIM:301500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Congestive heart failure ORPHA:52430
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Athe... ORPHA:280365
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia OMIM:617397
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Patent ductus arteriosus OMIM:618659
Classic Multiminicore Myopathy
Right ventricular failure, Congestive heart failure ORPHA:324604
Thanatophoric Dysplasia
Patent ductus arteriosus ORPHA:2655
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus OMIM:218350
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus OMIM:617751
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... ORPHA:99901
Carpenter Syndrome
Patent ductus arteriosus ORPHA:65759
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Left axis dev... OMIM:261740
Thanatophoric Dysplasia Type 2
Patent ductus arteriosus ORPHA:93274
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus OMIM:300048
Gm1 Gangliosidosis
Cherry red spot of the macula, Patent ductus arteriosus, Cardiomyopathy, Congestive heart failure ORPHA:354
Tetrasomy 15Q26
Hypoplastic aortic arch, Patent ductus arteriosus OMIM:614846
Williams-Beuren Region Duplication Syndrome
Patent ductus arteriosus OMIM:609757
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Patent ductus arteriosus ORPHA:500159
Sporadic Pheochromocytoma/Secreting Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:276621
Prune Belly Syndrome
Patent ductus arteriosus OMIM:100100
Monosomy 18Q
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Aortic aneurysm, Patent du... ORPHA:1600
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Hyp... ORPHA:183
Deafness-Craniofacial Syndrome
Patent ductus arteriosus ORPHA:3241
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus OMIM:243310
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Tetralogy of Fallot, Truncus arteriosus, Neonatal ... OMIM:601186
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Dextrotransposition of the great arteries, Double outlet right ventricle, Partial anomalous pulmo... OMIM:619657
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Prune Belly Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2970
Combined Oxidative Phosphorylation Deficiency 59
Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Congestive hear... OMIM:620646
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Patent ductus arteriosus OMIM:618870
Silver-Russell Syndrome 3
Patent ductus arteriosus OMIM:616489
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Patent ductus arteriosus ORPHA:329224
Pediatric-Onset Graves Disease
Sinus tachycardia, Congestive heart failure, Palpitations, Atrial fibrillation, Hypertension ORPHA:525731
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic morphology, Pulmonary artery st... ORPHA:251071
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Ascending tubular aorta aneurysm, Patent ductus arteriosus, Congestive hea... OMIM:601808
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Death in infancy OMIM:614576
Pontocerebellar Hypoplasia, Type 17
Patent ductus arteriosus OMIM:619909
Cantu Syndrome
Patent ductus arteriosus OMIM:239850
Phace Association
Arterial stenosis, Aortic aneurysm, Coarctation of aorta, Anomalous branches of internal carotid ... OMIM:606519
Transaldolase Deficiency
Telangiectasia, Coarctation of aorta, Patent ductus arteriosus OMIM:606003
Distal Xq28 Microduplication Syndrome
Epistaxis, Patent ductus arteriosus ORPHA:293939
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure OMIM:166210
Lymphatic Malformation 13
Patent ductus arteriosus, Pulmonary arterial hypertension, Mitral regurgitation, Neonatal death OMIM:620244
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Tetralogy of Fallot, Patent ductus arteriosus OMIM:612582
Blepharophimosis-Impaired Intellectual Development Syndrome
Patent ductus arteriosus OMIM:619293
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus OMIM:613680
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Conot... ORPHA:2306
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Emanuel Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Pulmonic stenosis, Truncus arteriosus OMIM:609029
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Coarctation of aorta, Patent du... OMIM:600460
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Neonatal death, Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Lymphedema-Distichiasis Syndrome
Arrhythmia, Patent ductus arteriosus, Varicose veins ORPHA:33001
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia, Patent ductus arteriosus OMIM:620475
Kapur-Toriello Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2328
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hypercholesterolemia, Patent ductus arteriosus after premature ... OMIM:620454
Double Outlet Left Ventricle
Abnormal right ventricular function, Pulmonary artery stenosis, Abnormal coronary artery course, ... ORPHA:3427
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure ORPHA:75564
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Sh... OMIM:620066
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
D-Glyceric Aciduria
Patent ductus arteriosus, Bradycardia OMIM:220120
Fanconi Anemia, Complementation Group B
Coarctation of aorta, Patent ductus arteriosus, Death in infancy OMIM:300514
Char Syndrome
Patent ductus arteriosus ORPHA:46627
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Pulmonary arterial hypertension, Congestive hear... ORPHA:220393
Seckel Syndrome 10
Abdominal aortic aneurysm, Hypertension, Hypertriglyceridemia, Congestive heart failure OMIM:617253
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Stroke, Raynaud phenomenon, Hy... ORPHA:91139
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
3P25.3 Microdeletion Syndrome
Patent ductus arteriosus, Pulmonic stenosis, Coronary artery atherosclerosis ORPHA:435638
Eisenmenger Syndrome
Elevated jugular venous pressure, Patent ductus arteriosus, Right ventricular failure, Tricuspid ... ORPHA:97214
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Patent ductus arteriosus OMIM:614886
Primary Triglyceride Deposit Cardiomyovasculopathy
Cardiomyopathy, Coronary artery stenosis, Palpitations, Hyperlipidemia, Renal artery atherosclero... ORPHA:565612
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Congestive heart failure ORPHA:367
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Mitral regurgitation, Congestive heart failure ORPHA:423461
Trisomy 13
Patent ductus arteriosus ORPHA:3378
Kagami-Ogata Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonic stenosis OMIM:608149
Hypomandibular Faciocranial Dysostosis
Patent ductus arteriosus, Death in infancy ORPHA:1790
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Interatrial Communication
Atrial flutter, Congestive heart failure, Palpitations, Stroke, Right axis deviation, Pulmonary a... ORPHA:1478
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:609015
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Arrhythmia, Elevated jugular venou... ORPHA:465508
Meacham Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Transpositi... ORPHA:3097
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Arrhythmia ORPHA:746
Avian Influenza
Miscarriage, Congestive heart failure ORPHA:454836
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitat... ORPHA:505248
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Art... ORPHA:1900
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Patent ductus arteriosus OMIM:220500
Emanuel Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Pulmonic stenosis, Truncus arteriosus ORPHA:96170
Dietary Iron Overload Disease
Increased circulating cortisol level, Congestive heart failure ORPHA:139507
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Persistent fetal circulation, Patent ductus arteriosus OMIM:612863
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Death in infancy, Congestive heart failure OMIM:619355
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Patent ductus arteriosus OMIM:617190
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Patent ductus arteriosus OMIM:619769
Trisomy 17P
Aortic valve stenosis, Patent ductus arteriosus ORPHA:261290
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper... ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Patent ductus arteriosus OMIM:617061
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, Patent ductus arteriosus OMIM:615398
Tetrasomy 5P
Heart murmur, Pulmonary arterial hypertension, Congestive heart failure ORPHA:3309
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Stroke, Retinal hem... ORPHA:33226
Carpenter Syndrome 1
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus, Pulmonic sten... OMIM:201000
Contractural Arachnodactyly, Congenital
Patent ductus arteriosus, Aortic root aneurysm, Mitral regurgitation OMIM:121050
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Left-to-right shunt ORPHA:363444
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:26791
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus OMIM:617247
Pseudo-Torch Syndrome 1
Patent ductus arteriosus OMIM:251290
Sifrim-Hitz-Weiss Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus OMIM:617159
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Varicose veins OMIM:153400
Zaki Syndrome
Patent ductus arteriosus OMIM:619648
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Ascending aortic dissectio... OMIM:608328
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... ORPHA:90307
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral regurgitation, Mitral stenosis, Coarctation of aorta, Patent ... OMIM:616564
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus ORPHA:52055
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Meckel Syndrome, Type 7
Aortic valve stenosis, Portal hypertension, Patent ductus arteriosus OMIM:267010
Martsolf Syndrome 1
Cardiac arrest, Cardiomyopathy, Congestive heart failure OMIM:212720
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:261279
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Death in childhood, Death in infa... OMIM:610505
Intellectual Disability-Strabismus Syndrome
Patent ductus arteriosus ORPHA:363528
Oculofaciocardiodental Syndrome
Peripheral pulmonary artery stenosis, Patent ductus arteriosus ORPHA:2712
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Prolonged QT interval, Atrial fibrillation, Tachyca... ORPHA:31826
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent ductus arteriosus OMIM:620327
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Tetralogy of Fallot, Pulmonary arterial hypertension, Patent ductus arteri... ORPHA:210122
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation of the ventricular cav... ORPHA:90349
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Patent ductus arteriosus OMIM:612562
Thanatophoric Dysplasia Type 1
Patent ductus arteriosus ORPHA:1860
Chromosome 9P Deletion Syndrome
Heart murmur, Patent ductus arteriosus OMIM:158170
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus ORPHA:77298
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Abnormal cerebral vascular morphology, Arterial stenosis, Stroke, Vascular dilatation, Patent duc... ORPHA:2637
Ciliary Dyskinesia, Primary, 52
Total anomalous pulmonary venous return, Transposition of the great arteries, Double outlet right... OMIM:620570
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopathy, Tricuspi... OMIM:617506
Trisomy 1Q
Patent ductus arteriosus ORPHA:261344
Triosephosphate Isomerase Deficiency
Death in adolescence, Death in infancy, Congestive heart failure OMIM:615512
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Patent ductus arteriosus ORPHA:457193
Wiedemann-Steiner Syndrome
Patent ductus arteriosus OMIM:605130
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus ORPHA:2095
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Patent ductus arteriosus, Neonatal death OMIM:620024
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Coronary artery fistula, Wolff-Parkinson-White syndrome, Partial anomalou... OMIM:619343
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Thoracic aortic aneurysm, Elevated pulmonary artery pressure, Patent ductus ... OMIM:619351
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Mitral regurgitation, Congestive hear... OMIM:123700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Interrupted aortic arch, Pulmonary artery dilatation, Right-to-left shunt, Tetralogy of Fallot, N... OMIM:265380
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Congestive heart failure OMIM:608779
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Portal hypertension, Patent ductus arteriosus, Neonatal death OMIM:208540
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Patent ductus arteriosus, Cardiomyopathy OMIM:217980
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure OMIM:619259
Hereditary Orotic Aciduria
Patent ductus arteriosus ORPHA:30
Transketolase Deficiency
Abnormal coronary artery course, Patent ductus arteriosus ORPHA:488618
3-Methylglutaconic Aciduria, Type Viii
Neonatal death, Patent ductus arteriosus, Death in infancy, Bradycardia OMIM:617248
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Coarctation of aorta, Mitral stenosis OMIM:617260
Congenital Disorder Of Glycosylation, Type Ig
Patent ductus arteriosus OMIM:607143
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Patent ductus arteriosus ORPHA:397709
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Patent ductus arteriosus OMIM:620113
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Atrial reentry tachycardia, Dextrotransposition of the g... OMIM:270100
Mirage Syndrome
Intracranial hemorrhage, Patent ductus arteriosus OMIM:617053
Feingold Syndrome
Patent ductus arteriosus ORPHA:1305
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:615895
Axenfeld-Rieger Syndrome, Type 3
Patent ductus arteriosus OMIM:602482
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus ORPHA:1517
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure ORPHA:2505
Distal Triplication 15Q
Hypoplastic aortic arch, Patent ductus arteriosus ORPHA:314588
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus OMIM:300472
Chromosome 10Q26 Deletion Syndrome
Patent ductus arteriosus OMIM:609625
Ritscher-Schinzel Syndrome 2
Pulmonary artery hypoplasia, Patent ductus arteriosus OMIM:300963
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis OMIM:277600
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Hypertension, Congestive heart failure ORPHA:85450
Takenouchi-Kosaki Syndrome
Patent ductus arteriosus, Pulmonic stenosis OMIM:616737
Mucopolysaccharidosis, Type Ii
Congestive heart failure OMIM:309900
Chromosome 13Q33-Q34 Deletion Syndrome
Patent ductus arteriosus, Pulmonic stenosis OMIM:619148
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:65286
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure OMIM:616271
Distal Deletion 10Q
Patent ductus arteriosus ORPHA:96148
Mgat2-Cdg
Arrhythmia, Patent ductus arteriosus, Reflex asystolic syncope ORPHA:79329
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Mitral stenosis, Pulmonary arterial hy... ORPHA:163956
Gm1-Gangliosidosis, Type Ii
Patent ductus arteriosus OMIM:230600
Cat Eye Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Patent ductus arteriosus, Pulmonic ... OMIM:115470
Sotos Syndrome
Patent ductus arteriosus OMIM:117550
Thoracoabdominal Syndrome
Transposition of the great arteries, Patent ductus arteriosus OMIM:313850
Koolen-De Vries Syndrome
Aortic root aneurysm, Patent ductus arteriosus, Pulmonic stenosis OMIM:610443
Recombinant 8 Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Patent ductus arteriosus ORPHA:96167
White-Sutton Syndrome
Patent ductus arteriosus OMIM:616364
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Vitreous hemorrhage, Patent ductus arteriosus, Pulmonic stenosis OMIM:620185
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitation... OMIM:252500
Kapur-Toriello Syndrome
Patent ductus arteriosus OMIM:244300
Lateral Meningocele Syndrome
Aortic aneurysm, Patent ductus arteriosus OMIM:130720
Marfan Syndrome
Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Aortic dissection, Pulmonary art... ORPHA:558
Leigh Syndrome
Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:506
Carney Complex, Type 1
Congestive heart failure OMIM:160980
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Congestive heart failure ORPHA:67
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita... ORPHA:99125
Desmosterolosis
Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:35107
Alstrom Syndrome
Dilated cardiomyopathy, Atherosclerosis, Congestive heart failure, Hypertriglyceridemia, Hyperten... OMIM:203800
Neurodevelopmental Disorder With Spasticity And Poor Growth
Patent ductus arteriosus OMIM:618076
C Syndrome
Patent ductus arteriosus OMIM:211750
Alpha-Thalassemia
Congestive heart failure ORPHA:846
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Death in childhood OMIM:214100
9Q33.3Q34.11 Microdeletion Syndrome
Telangiectasia, Epistaxis, Patent ductus arteriosus ORPHA:495818
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:306955
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Aortic root aneurysm, Patent ductus arteriosus, Pulmonic stenosis OMIM:620654
Pallister-Hall Syndrome
Decreased circulating cortisol level, Preductal coarctation of the aorta, Patent ductus arteriosu... OMIM:146510
7Q31 Microdeletion Syndrome
Patent ductus arteriosus after birth at term ORPHA:251061
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Patent ductus arteriosus OMIM:259100
De Barsy Syndrome
Persistent left superior vena cava, Hypoplastic aortic arch, Patent ductus arteriosus, Prominent ... ORPHA:2962
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperaldosteronism, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure ORPHA:73224
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascular dilatation... ORPHA:60030
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Tetralogy of Fallot, Right aortic arch, Pulmonary arterial ... ORPHA:95430
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Patent ductus arteriosus OMIM:277380
Mucopolysaccharidosis Type 1
Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:579
Incontinentia Pigmenti
Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:464
Ivic Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:147750
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Patent ductus arteriosus OMIM:618005
Phelan-Mcdermid Syndrome
Patent ductus arteriosus OMIM:606232
Cutis Marmorata Telangiectatica Congenita
Arterial stenosis, Telangiectasia of the skin, Arteriovenous malformation, Patent ductus arteriosus ORPHA:1556
Aceruloplasminemia
Congestive heart failure ORPHA:48818
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Pulmonic ste... ORPHA:3338
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Stillbirth OMIM:616300
Sweeney-Cox Syndrome
Patent ductus arteriosus OMIM:617746
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Restrictive cardiomyopathy, Patent ductus arteriosus, Hypertriglyceridemia ORPHA:369837
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Pulmonary arterial hypertension, Left superior vena cava draining to coron... OMIM:602782
Chops Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return OMIM:616368
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Patent ductus arteriosus, Pulmonic stenosis OMIM:610759
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Listeriosis
Arteritis, Congestive heart failure, Stroke, Myocarditis, Pericarditis, Miscarriage ORPHA:533
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Mitral regurgitation, Pulmonary arterial hypertension, Prominent superficial veins, Varicose vein... OMIM:612541
Brachytelephalangic Chondrodysplasia Punctata
Pulmonary artery stenosis, Patent ductus arteriosus ORPHA:79345
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:610168
Alg12-Cdg
Hypocholesterolemia, Patent ductus arteriosus ORPHA:79324
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Patent ductus arteriosus OMIM:104350
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
Short-Rib Thoracic Dysplasia 12
Patent ductus arteriosus, Neonatal death OMIM:269860
Generalized Pustular Psoriasis
Congestive heart failure ORPHA:247353
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Congestive heart failure, Dilatation of the cerebral arte... ORPHA:391487
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Mitral stenosis, Pulmonary artery stenosis, Coarctat... OMIM:605275
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... ORPHA:3260
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestive heart failure ORPHA:508542
Diamond-Blackfan Anemia 10
Patent ductus arteriosus OMIM:613309
Hyperparathyroidism, Transient Neonatal
Stroke, Patent ductus arteriosus OMIM:618188
Developmental Delay With Or Without Dysmorphic Facies And Autism
Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:618454
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Arterial dissection, Aortic dissection, Arterial tortuosity, Dilatation of ... ORPHA:284984
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Patent ductus arteriosus, Mitral regurgitation ORPHA:457395
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Coarctation of aorta, Patent ductus arter... OMIM:600268
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Tricuspid regurgitation, Aortic rupture, Patent ductus arteriosus, Mitral regurgitation OMIM:614557
Juvenile Polyposis Of Infancy
Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Melena, Patent ductus arteriosus ORPHA:79076
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Congestive heart failure OMIM:617156
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Pulmonary artery atresia, Patent ductus arteriosus OMIM:616894
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Patent ductus arteriosus ORPHA:250989
Desmosterolosis
Total anomalous pulmonary venous return, Patent ductus arteriosus OMIM:602398
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Patent ductus arteriosus OMIM:300968
Marshall-Smith Syndrome
Death in childhood, Premature ventricular contraction, Pulmonary arterial hypertension, Hypertens... OMIM:602535
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertrophic cardiomyopathy, Interrupted aortic arch, Coarctation of aorta, Patent ductus arteriosus ORPHA:17
Trichohepatoneurodevelopmental Syndrome
Steatorrhea, Patent ductus arteriosus OMIM:618268
Weaver Syndrome
Patent ductus arteriosus OMIM:277590
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Patent ductus arteriosus ORPHA:86818
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Aortic root aneurysm, Patent ductus arteriosus, Congestive heart... ORPHA:444077
Fanconi Anemia, Complementation Group F
Patent ductus arteriosus OMIM:603467
Mosaic Trisomy 9
Patent ductus arteriosus ORPHA:99776
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Shortened PR interval, Left ventricular outflow tract obstruction, L... ORPHA:308552
Hunter-Macdonald Syndrome
Aortic regurgitation, Patent ductus arteriosus, Hypertension, Mitral regurgitation OMIM:611962
Abetalipoproteinemia
Steatorrhea, Hypocholesterolemia, Congestive heart failure ORPHA:14
Bardet-Biedl Syndrome 1
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Micropenis, Nephrogenic diabet... OMIM:209900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Heart murmur, Intracranial hemorrhage, Patent ductus arteriosus ORPHA:163979
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus OMIM:613457
10Q22.3Q23.3 Microdeletion Syndrome
Patent ductus arteriosus ORPHA:276413
Spondyloepimetaphyseal Dysplasia, Krakow Type
Patent ductus arteriosus OMIM:618162
Marfan Syndrome
Aortic regurgitation, Aortic root aneurysm, Aortic dissection, Pulmonary artery dilatation, Conge... OMIM:154700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Patent ductus arteriosus OMIM:614080
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2282
Williams Syndrome
Death in early adulthood, Mitral regurgitation, Overriding aorta, Patent ductus arteriosus, Hyper... ORPHA:904
Noonan Syndrome 3
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Pulmonic stenosis OMIM:609942
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Cardiomyopathy, Congestive heart failure ORPHA:98908
Focal Dermal Hypoplasia
Telangiectasia of the skin, Patent ductus arteriosus ORPHA:2092
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:242840
Syndromic Diarrhea
Aortic regurgitation, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Patent ductus ar... ORPHA:84064
Erdheim-Chester Disease
Xanthelasma, Congestive heart failure ORPHA:35687
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus ORPHA:391641
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Patent ductus arteriosus ORPHA:464311
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Aortic aneurysm, Patent ductus arteriosus ORPHA:96121
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Tetralogy of Fallot, Truncus arteriosus, Pulmonary artery stenosis, Tran... OMIM:600001
8P11.2 Deletion Syndrome
Patent ductus arteriosus ORPHA:251066
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Pulmonary artery stenosis, Arrhythmia, Coarctation of ... ORPHA:648
Ramos-Arroyo Syndrome
Patent ductus arteriosus ORPHA:1051
Opitz Gbbb Syndrome
Persistent left superior vena cava, Coarctation of aorta, Aortic root aneurysm, Patent ductus art... ORPHA:2745
Khan-Khan-Katsanis Syndrome
Tricuspid regurgitation, Bilateral superior vena cava with no bridging vein, Patent ductus arteri... OMIM:618460
Malignant Hyperthermia Of Anesthesia
Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachycardia, High-ou... ORPHA:423
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Dilatation ... ORPHA:90348
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Ascending tubular aorta aneurysm, Right bundle branch block, Congest... OMIM:617403
Mckusick-Kaufman Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:2473
Ogden Syndrome
Peripheral pulmonary artery stenosis, Torsade de pointes, Premature atrial contractions, Supraven... OMIM:300855
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus OMIM:106260
Geleophysic Dysplasia 1
Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension... OMIM:231050
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Patent ductus arteriosus ORPHA:464306
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Pulmonary arterial hypertension, Aortic root aneurysm, Pate... ORPHA:280633
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Palpitations, Supraventricular arrhythmia, Ventricular arr... ORPHA:91347
Atypical Werner Syndrome
Aortic valve stenosis, Abnormal cerebral vascular morphology, Congestive heart failure, Coronary ... ORPHA:79474
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Aortic root aneurysm, Patent ductus arteriosus, Cardiomyopathy OMIM:135500
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Portal hypertension, Dilated ... ORPHA:171
Loeys-Dietz Syndrome 3
Aortic regurgitation, Aortic dissection, Arterial tortuosity, Tortuous cerebral arteries, Dilatat... OMIM:613795
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Patent ductus arteriosus, Pulmonic stenosis OMIM:614609
Distal Deletion 15Q
Abnormal aortic arch morphology, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
Craniofacioskeletal Syndrome
Interrupted aortic arch, Patent ductus arteriosus OMIM:300712
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus ORPHA:177907
Aymé-Gripp Syndrome
Patent ductus arteriosus, Pericarditis ORPHA:1272
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Patent ductus arteriosus after birth at term, Pulmonic stenosis ORPHA:529962
Mosaic Trisomy 16
Single coronary artery origin, Coarctation of aorta, Patent ductus arteriosus ORPHA:1708
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Congestive heart failure, Dilatation of the cerebral artery, Aortic aneurys... OMIM:619475
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Pulmonary artery atresia, Coarctation of aorta, Double outlet right ventri... OMIM:618164
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arterial rupture, Gastrointestinal hemorrhage, Congestive heart failure OMIM:225400
Dominant Beta-Thalassemia
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231226
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Portal hypertension, Patent ductus arteriosus OMIM:620005
Congenital Tracheal Stenosis
Anomalous origin of left pulmonary artery from ascending aorta, Preductal coarctation of the aort... ORPHA:141127
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Death in infancy, Neonatal death, Aortic aneurysm, Pulmonary arterial hy... OMIM:612289
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Death in infancy OMIM:274000
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Patent ductus arteriosus OMIM:213980
22Q11.2 Deletion Syndrome
Hypertensive crisis, Gastrointestinal hemorrhage, Abnormal aortic arch morphology, Tetralogy of F... ORPHA:567
Smith-Lemli-Opitz Syndrome
Hypertrophic cardiomyopathy, Hypocholesterolemia, Death in infancy, Coarctation of aorta, Ventric... OMIM:270400
3Mc Syndrome 1
Conjunctival telangiectasia, Patent ductus arteriosus OMIM:257920
Down Syndrome
Tetralogy of Fallot, Pulmonary artery stenosis, Double outlet right ventricle, Partial anomalous ... OMIM:190685
Knobloch Syndrome
Patent ductus arteriosus ORPHA:1571
Hajdu-Cheney Syndrome
Aortic valve stenosis, Patent ductus arteriosus, Mitral stenosis ORPHA:955
Myhre Syndrome
Aortic valve stenosis, Coarctation of aorta, Hypertension, Patent ductus arteriosus OMIM:139210
Fanconi Anemia
Arteriovenous malformation, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Abnormal aortic mor... ORPHA:84
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Cardiac-Urogenital Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Scimitar anomaly, Partial anomalous pulmonary venou... OMIM:618280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Patent ductus arteriosus, Death in infancy OMIM:300868
Proteasome-Associated Autoinflammatory Syndrome 1
Death in adolescence, Arrhythmia, Hypertriglyceridemia, Congestive heart failure OMIM:256040
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu... ORPHA:3385
Intellectual Developmental Disorder, Autosomal Dominant 68
Patent ductus arteriosus OMIM:619934
Feingold Syndrome 1
Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus OMIM:164280
Knobloch Syndrome 2
Patent ductus arteriosus OMIM:618458
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Pulmonary artery stenosis, Transposition of the gre... ORPHA:2255
Hardikar Syndrome
Portal hypertension, Pulmonary artery stenosis, Coarctation of aorta, Hematemesis, Partial anomal... OMIM:301068
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus ORPHA:1519
Frontometaphyseal Dysplasia 2
Patent ductus arteriosus, Pulmonic stenosis OMIM:617137
Osteopathia Striata With Cranial Sclerosis
Patent ductus arteriosus OMIM:300373
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Total anomalous pulmonary venous return, Patent ductus arteriosus ORPHA:487796
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Patent ductus arteriosus ORPHA:261337
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Coarctation of aorta, Congestive heart failure OMIM:105650
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus OMIM:227646
Neurocardiofaciodigital Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:619869
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tor... OMIM:609192
Coffin-Siris Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:1465
Cranioectodermal Dysplasia 2
Hypertension, Patent ductus arteriosus OMIM:613610
Beta-Thalassemia Major
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure ORPHA:231214
Holoprosencephaly 13, X-Linked
Double outlet right ventricle, Patent ductus arteriosus OMIM:301043
Microphthalmia, Syndromic 3
Patent ductus arteriosus OMIM:206900
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Transposition of the great arteries, Stillbirth, Neonatal death OMIM:256520
Acrofacial Dysostosis 1, Nager Type
Tetralogy of Fallot, Patent ductus arteriosus OMIM:154400
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Coarctation of aorta, Pulmonary arterial hypertension... ORPHA:363611
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
Turnpenny-Fry Syndrome
Aortic regurgitation, Carotid artery tortuosity, Patent ductus arteriosus OMIM:618371
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus ORPHA:1112
Restrictive Dermopathy 1
Patent ductus arteriosus, Stillbirth, Neonatal death OMIM:275210
Zttk Syndrome
Aortic regurgitation, Patent ductus arteriosus OMIM:617140
Hajdu-Cheney Syndrome
Patent ductus arteriosus OMIM:102500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Truncus arteriosus, Coarctation of aorta, Transposition of the great arteri... OMIM:612474
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Patent ductus arteriosus OMIM:300990
Arboleda-Tham Syndrome
Patent ductus arteriosus, Pulmonic stenosis OMIM:616268
Distal Deletion 12Q
Patent ductus arteriosus ORPHA:96149
Degcags Syndrome
Persistent left superior vena cava, Pulmonary arterial hypertension, Tachycardia, Patent ductus a... OMIM:619488
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Bidirectional shunt, Pulmonary artery dilatation, Tricuspid regurgitation, ... OMIM:619534
Smith-Lemli-Opitz Syndrome
Patent ductus arteriosus ORPHA:818
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Coarctation of aorta, Paten... ORPHA:353281
Viss Syndrome
Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Arterial tortuosity, Dila... OMIM:619472
Paternal Uniparental Disomy Of Chromosome 6
Patent ductus arteriosus ORPHA:96191
Rubinstein-Taybi Syndrome 1
Aortic isthmus hypoplasia, Persistent left superior vena cava, Coarctation of aorta, Patent ductu... OMIM:180849
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus OMIM:300967
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
1P36 Deletion Syndrome
Dilated cardiomyopathy, Tetralogy of Fallot, Aortic arch aneurysm, Telangiectasia, Patent ductus ... ORPHA:1606
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... ORPHA:99413
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... ORPHA:99226
Turner Syndrome
Female infertility, Abnormality of the ovary, Hyperinsulinemia, Type II diabetes mellitus, Hashim... ORPHA:881
Meckel Syndrome, Type 1
Coarctation of aorta, Vascular dilatation, Patent ductus arteriosus OMIM:249000
Microphthalmia, Syndromic 2
Aortic valve stenosis, Double outlet right ventricle, Hypoplastic aortic arch, Patent ductus arte... OMIM:300166
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Coarctation of aorta, Patent ductus arteriosus OMIM:619480
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal cardiac ventricular function, Patent ductus arteriosus ORPHA:466791
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Truncus arteriosus, Coarctation of aorta, Hypoplastic aortic arch, P... ORPHA:508488
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Patent ductus arteriosus OMIM:620558
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Coarctation of aorta, Patent ductus arteriosus OMIM:617088
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Patent ductus arteriosus OMIM:619841
Charge Syndrome
Tetralogy of Fallot, Interrupted aortic arch, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:138
X-Linked Intellectual Disability, Armfield Type
Patent ductus arteriosus ORPHA:85276
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Abnormal subclavian artery ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Vascular ring, Cardiac conduction abnormality, Abnormal subclavian artery ... ORPHA:353277
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus OMIM:613355
Carpenter Syndrome 2
Tricuspid regurgitation, Transposition of the great arteries, Patent ductus arteriosus OMIM:614976
Femoral-Facial Syndrome
Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis, Truncus arteriosus OMIM:134780
Knobloch Syndrome 1
Patent ductus arteriosus OMIM:267750
Noonan Syndrome 1
Hypertrophic cardiomyopathy, Coarctation of aorta, Patent ductus arteriosus, Pulmonic stenosis OMIM:163950
Friedreich Ataxia 2
Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy OMIM:601992
Cerebrocostomandibular Syndrome
Patent ductus arteriosus OMIM:117650
Vater/Vacterl Association
Tetralogy of Fallot, Transposition of the great arteries, Patent ductus arteriosus OMIM:192350
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Tetralogy of Fallot, Noncompaction cardiomyopathy, ... OMIM:607872
Restrictive Dermopathy
Transposition of the great arteries, Patent ductus arteriosus, Ascending tubular aorta aneurysm ORPHA:1662
Cohen-Gibson Syndrome
Patent ductus arteriosus OMIM:617561
Carney Complex
Increased circulating cortisol level, Congestive heart failure, Dilatation of the cerebral artery... ORPHA:1359
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Patent ductus arteriosus ORPHA:3047
Digeorge Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Trun... OMIM:188400
Lacrimoauriculodentodigital Syndrome
Patent ductus arteriosus, Corneal neovascularization ORPHA:2363
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Patent ductus arteriosus OMIM:620455
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Abnormal left ventricular function, Patent ductus arteriosu... OMIM:619991
Holt-Oram Syndrome
Tricuspid regurgitation, Left ventricular noncompaction cardiomyopathy, Atrioventricular dissocia... OMIM:142900
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anomalous origin of left subclavian artery, Patent ductus arteriosus, Pulmonic stenosis ORPHA:438213
Charge Syndrome
Tetralogy of Fallot, Right aortic arch, Overriding aorta, Double outlet right ventricle, Pulmonar... OMIM:214800
Peters Plus Syndrome
Abnormal pulmonary vein morphology, Patent ductus arteriosus, Pulmonic stenosis ORPHA:709
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Arrhythmia, Transposition of the great a... OMIM:312870
Coffin-Siris Syndrome 1
Tetralogy of Fallot, Patent ductus arteriosus OMIM:135900
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery aneurysm, Pulmonary artery stenosis, Anomalous origin of right coronary artery f... OMIM:616462
Proboscis Lateralis
Patent ductus arteriosus ORPHA:141099
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Patent ductus arteriosus after birth at term, Transient ischemic attack, Ischemic stroke, Abnorma... ORPHA:500150
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus ORPHA:434179
Mowat-Wilson Syndrome
Pulmonary artery sling, Pulmonary artery stenosis, Patent ductus arteriosus, Pulmonic stenosis OMIM:235730
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Patent ductus arteriosus, Cardiomyopathy ORPHA:480880
Orofaciodigital Syndrome Xiv
Patent ductus arteriosus OMIM:615948
Pallister-Hall Syndrome
Coarctation of aorta, Patent ductus arteriosus 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
Aortic valve stenosis, Aortic arch calcification, Congestive heart failure OMIM:182250
Roberts-Sc Phocomelia Syndrome
Patent ductus arteriosus, Stillbirth OMIM:268300
Townes-Brocks Syndrome
Tetralogy of Fallot, Patent ductus arteriosus ORPHA:857
Pallister-Killian Syndrome
Aortic valve stenosis, Hypertrophic cardiomyopathy, Coarctation of aorta, Stillbirth, Patent duct... OMIM:601803
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Tetralogy of Fallot, Pulmonary artery sling, Coarctation of aorta... ORPHA:261552
Mowat-Wilson Syndrome
Aortic valve stenosis, Tetralogy of Fallot, Pulmonary artery sling, Coarctation of aorta, Patent ... ORPHA:2152
Sotos Syndrome
Aortic aneurysm, Patent ductus arteriosus ORPHA:821
Craniofacial Microsomia 1
Tetralogy of Fallot, Coarctation of aorta, Right aortic arch, Patent ductus arteriosus OMIM:164210
Alström Syndrome
Dilated cardiomyopathy, Congestive heart failure, Portal hypertension, Hyperlipidemia, Pulmonary ... ORPHA:64
Pachydermoperiostosis
Elevated circulating growth hormone concentration ORPHA:2796
Isolated Congenital Digital Clubbing
ORPHA:217059
Digital Clubbing, Isolated Congenital
OMIM:119900
Cranio-Osteoarthropathy
ORPHA:1525

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.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hpgdtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hpgdtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hpgdtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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