Gene Summary

Name:
bone morphogenetic protein 10
Synonyms:
b2b2711Clo

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating creatinine level Bmp10tm3b(EUCOMM)Hmgu HET Early adult 2.55×10-07
preweaning lethality, complete penetrance Bmp10tm3b(EUCOMM)Hmgu HOM   Early adult 0.00
improved glucose tolerance Bmp10tm3b(EUCOMM)Hmgu HET Early adult 5.61×10-08
decreased exploration in new environment Bmp10tm3b(EUCOMM)Hmgu HET Early adult 2.69×10-07

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Human diseases caused by Bmp10 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Bmp10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hy... ORPHA:1209
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Ethanolaminosis
Cardiomegaly OMIM:227150
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Fetal Parvovirus Syndrome
Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites ORPHA:295
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspi... OMIM:616749
Long Qt Syndrome 16
Second degree atrioventricular block, Bradycardia, T-wave alternans, Patent ductus arteriosus aft... OMIM:618782
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyop... OMIM:619433
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Maternal diabetes, Abnormal tricuspid valve morphology, Patent ductus a... ORPHA:1208
Factor Xiii, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding, Bruising susceptibility, Ecchymosis, Abnormal bleeding, Prolon... OMIM:613235
Wolfram-Like Syndrome, Autosomal Dominant
Anxiety, Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Glanzmann Thrombasthenia
Bruising susceptibility, Spontaneous hematomas, Ecchymosis, Gastrointestinal hemorrhage, Purpura,... ORPHA:849
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Thrombocytope... ORPHA:3002
Genitopalatocardiac Syndrome
Renal cyst, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Transpos... OMIM:231060
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cutaneous Collagenous Vasculopathy
Bruising susceptibility, Petechiae, Vascular skin abnormality, Erythema, Prominent superficial bl... ORPHA:280779
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Double outlet right ventricle, Hypo... ORPHA:185
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Hematuria, Purpura, Neonatal alloimmune throm... ORPHA:853
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Thrombocytopenia With Beta-Thalassemia, X-Linked
Bruising susceptibility, Petechiae, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Reticulocyt... OMIM:314050
Complement Component 4A Deficiency
Purpura, Glomerulonephritis, Vasculitis, Cutaneous photosensitivity OMIM:614380
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Bruising susceptibility, Epistaxis, Ecchymosis, Abnormal bleedi... OMIM:609821
Thrombocytopenia 5
Bruising susceptibility, Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Cryoglobulinemic Vasculitis
Petechiae, Cutis marmorata, Gastrointestinal hemorrhage, Hematuria, Proteinuria, Splenomegaly, Me... ORPHA:91138
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, EMG: my... OMIM:601419
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Splenomegaly, Pleural effusion, Pulmonic stenosis, Hep... ORPHA:2414
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Patent ductus arteriosus, Aortic val... ORPHA:99094
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, Ve... ORPHA:3405
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Polyhydramnios, Preeclamps... ORPHA:163596
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Telangiecta... ORPHA:101028
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia, Ventricul... OMIM:613759
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Bruising susceptibility, Petechiae, Ecchymosis, Increased mean platelet volume, Menorrhagia, Ging... OMIM:153670
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Left ventricular noncompaction, Cardiac arrest, Aort... OMIM:163800
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Petechiae, Mitral valve prolapse, Striae distensae OMIM:225310
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy, Patent ductus arteriosus OMIM:616276
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Menorrhagia, Prolonged bleeding time, Epistaxis OMIM:614201
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hydrops fetalis, Hypertrophic cardiomyopathy, Fetal akinesia sequence, Br... OMIM:618815
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly, Pre... OMIM:269920
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Klippel-Trénaunay Syndrome
Abnormal tricuspid valve morphology, Gastrointestinal hemorrhage, Congestive heart failure, Atria... ORPHA:90308
Bleeding Disorder, Platelet-Type, 14
Bruising susceptibility, Prolonged bleeding time, Ecchymosis, Epistaxis OMIM:614158
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Cyanosis, Hypogonadotropic hypogonadism, Pulmonary artery... ORPHA:2326
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Persistent bleeding after trauma, Bruising susceptibility, Petechiae, Acanthocytosis, Anemia of i... OMIM:300367
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Nephrotic syndrome, Gastrointestinal hemorrhage, Coombs-positive hemolyt... OMIM:603909
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Congenital Factor Xiii Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Spontaneous hematomas, Abnormal umbili... ORPHA:331
Bleeding Disorder, Platelet-Type, 16
Petechiae, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemi... OMIM:187800
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Muscular dystrophy, Proximal amyotrophy, Atrial fibrillation, Bradycardia OMIM:614302
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:619003
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, ... OMIM:618845
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Bernard-Soulier Syndrome
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Macrothrombocytopenia, Menorrhag... ORPHA:274
Evans Syndrome
Bruising susceptibility, Petechiae, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jau... ORPHA:1959
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot, Perineal hypospadias, Micropenis, Cryptorchidism, Testicular dysgenesis, Mic... OMIM:615542
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disea... OMIM:161950
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation ORPHA:1053
Bleeding Disorder, Platelet-Type, 17
Bruising susceptibility, Petechiae, Ecchymosis, Gastrointestinal hemorrhage, Absence of alpha gra... OMIM:187900
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Hydrops fetalis, Decreased fetal movement, Polyhydramnio... OMIM:232500
Acute Promyelocytic Leukemia
Pancytopenia, Bruising susceptibility, Petechiae, Leukopenia, Diffuse alveolar hemorrhage, Hematu... ORPHA:520
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic c... OMIM:115197
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Erythema, Urticaria, Vasculitis, Purpura ORPHA:889
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... OMIM:613225
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Primary Myelofibrosis
Pancytopenia, Petechiae, Hepatosplenomegaly, Ecchymosis, Leukocytosis, Thrombocytosis, Splenomega... ORPHA:824
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Bruising susceptibility, Ecchymosis, Epistaxis OMIM:614009
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Dextrocardia, Mitral stenosis, Ventricular septal... ORPHA:1686
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Abnormality of the lymph nodes... OMIM:612840
Coronary Arterial Fistula
Pedal edema, Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal left ventricular function, ... ORPHA:2041
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Dilatation of the ventr... OMIM:615745
Megabladder, Congenital
Multiple glomerular cysts, Patent ductus arteriosus, Atrial septal defect, Left ventricular nonco... OMIM:618719
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Ascites, Bacterial endocarditis, Pedal edema, Heart mur... ORPHA:615
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Cardi... OMIM:253250
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Purpura Simplex
Menorrhagia, Bruising susceptibility, Purpura, Epistaxis OMIM:179000
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula ORPHA:46724
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Subvalvular aortic stenosis, Pulmonary artery atresia, Ventricular septal de... OMIM:108900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Neuraminidase Deficiency
Hydrops fetalis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Ascites, Cardiomegaly, Facial edema OMIM:256550
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial eff... OMIM:617300
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Nephrolithiasis, Renal cortical adenoma, Parathyroid adenoma, Polycystic k... OMIM:145001
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Po... OMIM:173470
Peroxisome Biogenesis Disorder 3A (Zellweger)
Vascular dilatation, Polycystic kidney dysplasia OMIM:614859
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Thrombocytopenia, Mediastinal lymphadenopathy, Abnormal bleeding, Sea-bl... ORPHA:158029
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Cardiomyopathy, Ventricular tachycardia, Sudden cardiac death OMIM:612124
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Macrothrombocytopenia, Purpura, Menorrhagia, Gingival ble... OMIM:231200
Boutonneuse Fever
Petechiae, Leukopenia, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Renal insufficiency... ORPHA:83313
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Adams-Oliver Syndrome 4
Atrial septal defect, Cutis marmorata, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse,... OMIM:173900
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Parkes weber syndrome
Arteriovenous fistula OMIM:608355
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Splenomegaly, Thrombocytopenia, Epistaxis OMIM:619463
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Proteinuria, Renal interstitial amyloid deposits, Anemia, Petechiae,... ORPHA:85450
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Systolic heart murmur, Patent foramen ovale, Congestive heart failure, ... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Left ventricular hypertrophy, Congestive heart failure, Ventricular hypertrophy OMIM:619048
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Thrombocytopenia 2
Bruising susceptibility, Leukocytosis, Thrombocytopenia OMIM:188000
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Decreased fetal movement OMIM:253300
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Premature birth OMIM:618838
Griscelli Syndrome Type 2
Premature graying of hair, Pancytopenia, Petechiae, Hemophagocytosis, Splenomegaly, Jaundice, Neu... ORPHA:79477
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, Recurrent respiratory infec... OMIM:615993
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Hadziselimovic Syndrome
Tetralogy of Fallot, Atrial septal defect, Renal hypoplasia, Pulmonary artery atresia, Ventricula... OMIM:612946
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT interval, Ventr... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Anti-Glomerular Basement Membrane Disease
Hematuria, Proteinuria, Anemia, Glomerulopathy, Vasculitis, Renal insufficiency, Purpura ORPHA:375
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, A... ORPHA:99050
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Hydronephrosis, Single ventricle, Ventricular septal defect, R... OMIM:601186
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Tufted Angioma
Anemia, Petechiae, Purpura, Thrombocytopenia ORPHA:1063
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Enlarged kidney, Bruising susceptibility, Epistaxis, Ecchymosis, Panc... ORPHA:464329
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Polycystic kidney dysplasia, Recurrent urinary tract infect... OMIM:613095
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Crypto... OMIM:618316
Pseudo-Torch Syndrome 1
Petechiae, Patent foramen ovale, Patent ductus arteriosus, Splenomegaly, Jaundice, Renal insuffic... OMIM:251290
Seckel Syndrome 9
Pulmonary artery hypoplasia, Atrial septal defect, Recurrent respiratory infections, Recurrent ur... OMIM:616777
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Petechiae, Diabetes insipidus, Erythema, Splenomegaly, Thrombocytopenia, Prolonge... OMIM:225750
Drug-Induced Lupus Erythematosus
Petechiae, Hematuria, Anemia, Pericarditis, Thrombocytopenia, Pericardial effusion ORPHA:231111
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Pulmonary ... OMIM:613426
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal testis morphology, Situs inversus totalis, Multicystic kidn... ORPHA:991
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Atrial septal defect, Cryptorchidism, Abnormal heart morphology, Pulmonary artery... ORPHA:401935
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... OMIM:610947
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Skin ulcer, Purpura, Subcutaneous hemorrhage ORPHA:743
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis OMIM:612336
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hydrops fetalis, Fetal akinesia sequence, Ventricular septal defect, Cardiomega... OMIM:617022
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Ecchymosis, Hemophagocytosis, Splenomegaly, Thrombocytopenia,... ORPHA:540
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Nephropathy, Renotubular dysgenesis, Pulmonary hypopla... ORPHA:3033
Wiskott-Aldrich Syndrome
Microcytic anemia, Anemia, Hematemesis, Abnormal platelet morphology, Hypoplasia of the thymus, S... ORPHA:906
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Hypogonadism, Renal insufficiency OMIM:615987
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Muscular Dystrophy, Becker Type
Arrhythmia, Abnormal EKG, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy OMIM:300376
Prolidase Deficiency
Recurrent pneumonia, Petechiae, Splenomegaly, Anemia, Prolonged neonatal jaundice, Hyperimidodipe... OMIM:170100
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding,... OMIM:613679
Pseudo-Torch Syndrome 2
Petechiae, Patent ductus arteriosus, Abnormal renal corticomedullary differentiation, Pleural eff... OMIM:617397
Non-Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Prominent superficial veins ORPHA:141179
Double Outlet Right Ventricle
Cyanosis, Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of a... ORPHA:3426
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Dengue Fever
Bruising susceptibility, Petechiae, Leukopenia, Gastrointestinal hemorrhage, Gingival bleeding, C... ORPHA:99828
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatomegaly ORPHA:2204
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Hydrops fetalis, Hepatomegaly, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation, Ventricular tachycardia, Premature ventricular contraction, Left bu... OMIM:618920
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Pancreatic cysts, Splenomegaly, Polycystic kidney dysplasia, Tubuloi... OMIM:263200
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension, Macroglo... OMIM:261740
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Ureteral atresia, Patent ductus arteriosus, Atrial septal defect, Pancreatic cys... OMIM:208540
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Hydronephrosis, Double outlet right ventricle, Pulmoni... OMIM:220210
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Purpura, Warfarin-induced skin necrosis ORPHA:745
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Patent ductus arteriosus, Hypertension, Ventricular septal defect, Oligohydramnios OMIM:617021
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal hypertrophy, Ventricular septal defect, Wolff-Parkinson-White syndrome OMIM:614947
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Cryptorchidism, Abnormality of the pulmonary artery, Ventricular septal defe... ORPHA:1166
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Intrauterine growth retardation, Abnormal aortic arch morphology, Arteriovenous... ORPHA:1110
Factors Viii, Ix And Xi, Combined Deficiency Of
Bruising susceptibility, Joint hemorrhage, Ecchymosis OMIM:134520
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Congenital Enterovirus Infection
Hydrops fetalis, Hypotension, Myocarditis, Decreased fetal movement, Pleural effusion, Polyhydram... ORPHA:292
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Petechiae, Leukopenia, Patent ductus arteriosus, Crypt... OMIM:617053
Rapidly Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Prominent superficial veins ORPHA:141184
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydrops fetalis, Hypertrophic cardiomyopathy, Pleural effusion, Single umbilical artery, Polyhydr... OMIM:616897
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Achondrogenesis, Type Ib
Hydrops fetalis, Breech presentation, Polyhydramnios, Edema, Stillbirth OMIM:600972
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Autoimmune hemolytic anemia, Abnormally low T cell rec... OMIM:619374
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Fetal Gaucher Disease
Hydrops fetalis, Splenomegaly, Decreased fetal movement, Hepatomegaly, Fetal akinesia sequence, N... ORPHA:85212
Parkes Weber Syndrome
Arteriovenous fistula, Vascular tortuosity, Peripheral arteriovenous fistula, Cerebral arterioven... ORPHA:90307
Congenital Sialidosis Type 2
Cherry red spot of the macula, Petechiae, Hepatosplenomegaly, Abnormality of the kidney, Respirat... ORPHA:93400
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Ethylmalonic aciduria ORPHA:51188
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Renal cyst, Ventricular septal defect, Truncus arteriosus OMIM:228940
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypot... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly, Oligohydramnios OMIM:617713
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Chondrodysplasia, Blomstrand Type
Hydrops fetalis, Polyhydramnios, Premature birth, Stillbirth OMIM:215045
Complement Component 2 Deficiency
Purpura OMIM:217000
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Patent foramen ovale, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventri... ORPHA:542306
Alagille Syndrome 2
Tetralogy of Fallot, Renal cyst, Renal tubular acidosis, Hematuria, Proteinuria, Atrial septal de... OMIM:610205
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Patent duc... OMIM:610338
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Spinal arteriovenous malformation ORPHA:53721
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Bruising susceptibility, Ecchymosis, Joint hemorrhage, Abnormal bleeding, Epistaxis OMIM:277450
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Premature birth, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hydrops fetali... OMIM:230500
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Ethylmalonic aciduria OMIM:602473
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Arteriovenous malformation ORPHA:137608
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Arrhythmia, Atrioventricular block ORPHA:85447
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Partial atrio... ORPHA:1330
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Portal hypertension, Hepatosplenomegaly, Congestive heart failure, Nonimm... ORPHA:367
Attrv122I Amyloidosis
Cardiomegaly, Reduced ejection fraction, Arrhythmia, Congestive heart failure, Abnormal EKG, Abno... ORPHA:85451
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorchidi... OMIM:179613
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect OMIM:614876
Blue Rubber Bleb Nevus
Arteriovenous malformation ORPHA:1059
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura OMIM:612304
Wyburn-Mason Syndrome
Vascular dilatation, Peripheral arteriovenous fistula, Arteriovenous malformation ORPHA:53719
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Foot dorsiflexor weakness, Ventricular fibrillation, Ventricular tachycardi... ORPHA:263297
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Syndromic Diarrhea
Tetralogy of Fallot, Hypothyroidism, Patent ductus arteriosus, Atrial septal defect, Renal hypopl... ORPHA:84064
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias, Diabetes mellitus OMIM:605231
Familial Multiple Nevi Flammei
Venous insufficiency, Arteriovenous malformation ORPHA:624
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Reduced ejection... OMIM:619371
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Restrictive card... OMIM:619313
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Snakebite Envenomation
Ecchymosis, Angioedema, Acute kidney injury, Hypopituitarism, Gingival bleeding, Erythema, Thromb... ORPHA:449285
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Arterial intimal fibrosis,... OMIM:178600
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal myocardium morphology, Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular... ORPHA:300751
Heterotaxy, Visceral, 2, Autosomal
Mesocardia, Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Left atrial isom... OMIM:605376
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis OMIM:185500
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatosplenomegaly, Pericardial effusion, Abnormal cardiac septum mo... OMIM:608776
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Neutropenia, Anemia, Cardiomyopathy, Lymphopenia, Purpura OMIM:604250
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage, Poor wound healing OMIM:262800
Sialidosis Type 2
Hydrops fetalis, Splenomegaly, Hepatomegaly, Pedal edema, Ascites ORPHA:87876
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy, Arrhythmia OMIM:612999
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Iron deficiency... OMIM:301000
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Livedoid Vasculopathy
Pancytopenia, Cutis marmorata, Ecchymosis, Macular purpura, Leukocytosis, Graves disease, Abnorma... ORPHA:542643
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Cryptorc... OMIM:612541
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Thrombocytopenia 3
Petechiae, Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining directly to ... OMIM:619657
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Recurrent pneumonia, Lymphangioma, Vascular tortuosity, D-2-hydroxyglu... ORPHA:99646
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Grange Syndrome
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Abnormal heart valve morphology, Aor... ORPHA:75566
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Bilateral trilobed lungs, Ureteral stenosis, Total anomalous pulmonary ve... OMIM:270100
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Sepsis In Premature Infants
Oliguria, Cyanosis, Petechiae, Leukocytosis, Purpura, Splenomegaly, Thrombocytopenia, Jaundice, N... ORPHA:90051
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Hydrops fetalis, Prenatal maternal ... OMIM:609015
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Retinal hemorrhage, Bone marrow hypocellularity, Gingival bleeding, Neu... ORPHA:88
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Arteriovenous malformation, Pulmonary a... ORPHA:974
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect ORPHA:3469
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Primary Release Disorder Of Platelets
Menorrhagia, Bruising susceptibility, Spontaneous, recurrent epistaxis, Abnormal bleeding OMIM:176630
Distal Tetrasomy 15Q
Horseshoe kidney, Patent ductus arteriosus, Atrial septal defect, Hydronephrosis, Dilatation of t... ORPHA:314588
8P23.1 Duplication Syndrome
Adrenal insufficiency, Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal... ORPHA:251076
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Right atrial enlargement, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Thrombocytopenia 1
Bruising susceptibility, Petechiae, Intermittent thrombocytopenia, Joint hemorrhage, Congenital t... OMIM:313900
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Patent ductus arteriosus OMIM:126320
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Decreased fetal movement, Polyhydramnios, Ventricular septal defect, Edema OMIM:607598
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Intellectual Developmental Disorder, Autosomal Recessive 73
Ventricular septal defect, Patent ductus arteriosus, Decreased fetal movement OMIM:619717
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Menorrhagia, Anemia, Abnormal bleeding, Spontaneous hematomas, Epistaxis OMIM:616176
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Ragged-red muscle fibers, EMG: myopathic abnormalities, Limb muscle weakness, Cardiom... OMIM:609286
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Campomelia, Cumming Type
Polysplenia, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect OMIM:614474
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Pyoderma gangrenosum, Acrocyanosis, Prolonged prothrombin time... ORPHA:49566
Hermansky-Pudlak Syndrome 1
Hematochezia, Bruising susceptibility, Ecchymosis, Gingival bleeding, Cardiomyopathy, Pulmonary f... OMIM:203300
Primary Ciliary Dyskinesia
Respiratory tract infection, Situs inversus totalis, Double outlet right ventricle, Abnormal atri... ORPHA:244
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Proteinuria, Anemia, Hematemesis,... ORPHA:340
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Meningococcal Meningitis
Petechiae, Purpura, Renal insufficiency ORPHA:33475
Danon Disease
Dilated cardiomyopathy, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... OMIM:300257
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:3304
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal cyst, Hematuria, Retinal hemorrhage, Retinal arteriolar tortuosity, Dilatation of the cereb... OMIM:611773
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Purpura OMIM:614514
Gaucher Disease, Perinatal Lethal
Petechiae, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia, Cardiomegaly, Purpura, Pul... OMIM:608013
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Patent ductus arteriosus, Congestive heart failure, Pulmonary ... ORPHA:1457
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Lymphatic Malformation 6
Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Splenomegaly, Pleural effusion, Gen... OMIM:616843
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:618652
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Gray Platelet Syndrome
Bruising susceptibility, Splenomegaly, Thrombocytopenia, Abnormal bleeding, Epistaxis ORPHA:721
Macrothrombocytopenia and progressive sensorineural deafness
Bruising susceptibility, Macrothrombocytopenia, Giant platelets, Thrombocytopenia, Abnormality of... OMIM:600208
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Currarino Syndrome
Arteriovenous malformation ORPHA:1552
Capillary Malformation-Arteriovenous Malformation
Chylothorax, High-output congestive heart failure, Congestive heart failure, Nonimmune hydrops fe... ORPHA:137667
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Simple Cryoglobulinemia
Cold urticaria, Chronic lymphatic leukemia, Nephrotic syndrome, Gastrointestinal hemorrhage, Vasc... ORPHA:91139
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Erythema, Urticaria, Vasculitis, Lymphadenopathy, Acrocyanosis, Purpura ORPHA:343
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Interstitial Nephritis, Karyomegalic
Glycosuria, Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Trisomy 1Q
Patent ductus arteriosus, Hydrops fetalis, Polyhydramnios, Ventricular septal defect, Increased n... ORPHA:261344
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Ventricular arrhythmia, Syncope, Palp... OMIM:609040
Pituitary Adenoma 4, Acth-Secreting
Bruising susceptibility, Ecchymosis, Nephrolithiasis, Striae distensae, Facial erythema, Poor wou... OMIM:219090
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Abnormal heart morphology, Pulmonary hypoplasia, Polycystic kidney dysplasia OMIM:263210
Passovoy Factor Defect
Menorrhagia, Bruising susceptibility, Abnormal bleeding, Epistaxis OMIM:168830
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Jaundice, Polycystic kidney dysplasia, Abnormal heart morphology, Aminoaciduria, ... OMIM:214110
Trisomy 13
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Patent ductus arteriosus ORPHA:3378
Fechtner syndrome
Bruising susceptibility, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Hematuria, Prot... OMIM:153640
Femoral-Facial Syndrome
Cryptorchidism, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal h... ORPHA:1988
Hermansky-Pudlak Syndrome 6
Bruising susceptibility, Recurrent upper respiratory tract infections, Ecchymosis, Abnormal plate... OMIM:614075
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Meacham Syndrome
Tetralogy of Fallot, Pulmonary sequestration, Horseshoe kidney, Aplasia/Hypoplasia of the lungs, ... ORPHA:3097
Myelofibrosis
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Bleeding Disorder In Hemophilia A Carriers
Epistaxis, Bruising susceptibility, Prolonged bleeding following procedure, Menorrhagia, Prolonge... ORPHA:177926
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Splenomegaly, Pleural effusion, Hepatomegaly,... OMIM:235200
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Jaundice, Poly... OMIM:231680
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Prune Belly Syndrome
Tetralogy of Fallot, Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Patent ductus ar... ORPHA:2970
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Sinus bradycardia, Skeletal muscle atrophy, Limb-girdle muscle weakness, Muscular dystrophy, Limb... OMIM:616812
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Chronic kidney disease, Neutropenia, Anemia, Nephropathy, Focal segmental glomerulosc... OMIM:617056
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pericardium morpholo... ORPHA:183
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Atrial septal defect, Partial anoma... OMIM:617478
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Plantar telangiectasia, Pleural effusion, Predominantly lower limb lymphedema, P... ORPHA:69735
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Gm1 Gangliosidosis
Hepatosplenomegaly, Patent ductus arteriosus, Congestive heart failure, Hydrops fetalis, Splenome... ORPHA:354
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Cyanosis, Bruising susceptibility, Abnormal umbilical stump bleeding, S... ORPHA:335
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Immunoglobulin A Vasculitis
Bruising susceptibility, Gastrointestinal hemorrhage, Hematuria, Proteinuria, Angioedema, Vascula... ORPHA:761
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Thrombocytopenia, Abnormal lymphatic vessel morphology, Neutropenia, Anemi... ORPHA:2330
Hyperlysinemia
Recurrent pneumonia, Cystinuria, Pulmonary artery hypoplasia, Hyperlysinuria, Decreased urine alp... ORPHA:2203
Severe Combined Immunodeficiency, X-Linked
Recurrent pneumonia, T lymphocytopenia, Pneumonia, Impaired lymphocyte transformation with phytoh... OMIM:300400
Mucopolysaccharidosis Type 7
Umbilical hernia, Arteriovenous malformation ORPHA:584
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Decreased fetal movement OMIM:616816
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Waldenström Macroglobulinemia
Cutis marmorata, Gastrointestinal hemorrhage, Retinal hemorrhage, Normocytic anemia, Leukemia, Gi... ORPHA:33226
Congenital Toxoplasmosis
Cardiomegaly, Premature birth, Hepatomegaly, Ascites ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular tachycardia OMIM:600649
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Situs inversus totalis, Pul... OMIM:615415
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Ventricular septal defect, Paroxy... ORPHA:49827
Primary Pulmonary Hypoplasia
Cyanosis, Ureteral stenosis, Dextrocardia, Recurrent respiratory infections, Pneumothorax, Secund... ORPHA:2257
Noonan Syndrome 12
Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Splenomegaly, H... ORPHA:77261
Coffin-Siris Syndrome 10
Ventricular septal defect OMIM:618506
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia ORPHA:3316
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Bronchiolitis obliterans, Decreased proportion of CD4-positive helper T... OMIM:617241
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Bruising susceptibility, Thrombocytopenia, Epistaxis OMIM:613554
Boomerang Dysplasia
Hydrops fetalis, Polyhydramnios ORPHA:1263
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Vascular dilatation, Multiple renal cysts ORPHA:2924
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Pul... ORPHA:93126
Melorheostosis
Peripheral arteriovenous fistula ORPHA:2485
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Purpura, Myocarditis, Splenomegaly, Hemolytic anemia, Pu... ORPHA:809
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia, Flexion contracture OMIM:614498
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Mosaic Trisomy 9
Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosis, Atrial sep... ORPHA:99776
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Aortic root aneurysm, Pa... ORPHA:730
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, ... OMIM:212140
Congenital Tracheomalacia
Emphysema, Cyanosis, Tetralogy of Fallot, Recurrent upper respiratory tract infections, Pneumonia... ORPHA:95430
Trisomy 17P
Patent ductus arteriosus, Hydronephrosis, Hypoplasia of penis, Polycystic kidney dysplasia, Hypop... ORPHA:261290
Pelizaeus-Merzbacher Disease
Arteriovenous malformation ORPHA:702
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B lymph... OMIM:603554
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Stillbirth OMIM:263630
Wolff-Parkinson-White Syndrome