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
preweaning lethality, complete penetrance Bmp10tm3b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased circulating creatinine level Bmp10tm3b(EUCOMM)Hmgu HET Early adult 2.55×10-07
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 B FCS file(s)

8 Images

Immunophenotyping

Panel A 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
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Ethanolaminosis
Cardiomegaly OMIM:227150
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Indomethacin Embryofetopathy
Hydrops fetalis, Cardiomyopathy, Premature birth, Atrial septal defect, Ventricular septal defect... ORPHA:1909
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Hematuria, Petechiae, Gingival bleeding, Epistaxis, Cerebra... ORPHA:3002
Fetal Parvovirus Syndrome
Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency ORPHA:295
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Maternal diabetes, Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus a... ORPHA:1208
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte... ORPHA:185
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Factor Xiii, B Subunit, Deficiency Of
Abnormal bleeding, Abnormal umbilical stump bleeding, Ecchymosis, Bruising susceptibility, Prolon... OMIM:613235
Truncus Arteriosus
Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposi... ORPHA:3384
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced... OMIM:617610
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Abnormal bleeding, Hematuria, Gastrointestinal hemorrhage, Melena... ORPHA:853
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Restrictive cardiomyopathy, Ascites, Tric... OMIM:619433
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper respiratory tra... OMIM:620296
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop... OMIM:615382
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Vascular skin abnormality, Petechiae, Prominent superficial blood vessels... ORPHA:280779
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Fetal pericardial effusion, Fetal pleural effusion... OMIM:619462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
Hydrops Fetalis
Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Twin-to-twin transfusion, ... ORPHA:1041
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Complement Component 4A Deficiency
Vasculitis, Purpura, Cutaneous photosensitivity, Glomerulonephritis OMIM:614380
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Epis... OMIM:314050
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous fistula, Arteriovenous malformation OMIM:608354
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Ecchymosis, Epistaxis, Persistent bleeding after trauma, Bruising susceptibili... OMIM:609821
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... ORPHA:99094
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Petechiae, Gingival bleeding, Ecchymosis, Epistaxis, Inguinal lymphadenopathy, Cervical l... OMIM:620514
Transaldolase Deficiency
Hydrops fetalis, Hepatosplenomegaly, Edema, Atrial septal defect, Biventricular hypertrophy, Tela... ORPHA:101028
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Ve... ORPHA:3405
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Lymphatic Malformation 8
Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ... OMIM:618773
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Vein Of Galen Aneurysmal Malformation
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology ORPHA:1053
Cryoglobulinemic Vasculitis
Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Purpura, Skin ulcer, Mediastinal lymphade... ORPHA:91138
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Petechiae, Bruising susceptibility, Striae distensae, Mitral valve prolapse OMIM:225310
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,... OMIM:615779
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Thrombocytopenia 5
Anemia, Petechiae, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Epistaxis, ... OMIM:616216
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Congenital Factor Xiii Deficiency
Spontaneous hematomas, Prolonged bleeding after dental extraction, Post-partum hemorrhage, Oral c... ORPHA:331
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Factor Xiii, A Subunit, Deficiency Of
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... OMIM:613225
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hydrops fetalis, Bradycardia, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Fetal akinesia... OMIM:618815
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Premature birth, Splenomegaly, ... OMIM:269920
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Splen... OMIM:608540
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... OMIM:613759
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Hepatomegaly, Pericarditis, Splenomega... ORPHA:163596
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:46724
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hy... OMIM:616276
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Recurrent respiratory infections, Nephrotic range proteinuria, Abnormal... OMIM:613496
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi... OMIM:618845
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic... ORPHA:2326
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Mitochondrial Complex I Deficiency, Nuclear Type 35
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Iron deficiency anemia, Lymphadenopathy... OMIM:603909
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Petechiae, Thrombocytopenia, M... OMIM:187800
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... ORPHA:90308
Iga Nephropathy, Susceptibility To, 1
Purpura, Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kid... OMIM:161950
Evans Syndrome
Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib... ORPHA:1959
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Petechiae, Abnormal mitral ... ORPHA:903
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Abnormal platelet... OMIM:273800
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Gingival... ORPHA:520
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Menorrhagia, Ecchymosis, Epistaxis, Bruising susceptibility, Prolonged b... OMIM:614201
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block, Abnormal cardiac septum morphology ORPHA:1479
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Hydrops fetalis, Lymphedema, Patent ductus arteriosus, Overriding aorta, Atrial s... OMIM:601927
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... ORPHA:1686
Cutaneous Small Vessel Vasculitis
Purpura, Vasculitis, Urticaria, Cutis marmorata, Erythema ORPHA:889
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... OMIM:300367
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Fetal distress, Hydrops fetalis, Redu... ORPHA:45452
Primary Myelofibrosis
Abnormal bleeding, Purpura, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Leu... ORPHA:824
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Bruising susceptibility, Ecchymosis, Abnormal platelet count, Epistaxis OMIM:614009
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Megabladder, Congenital
Atrial septal defect, Multiple glomerular cysts, Fetal megacystis, Left ventricular noncompaction... OMIM:618719
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Ascites, Tricuspid regurgitatio... ORPHA:615
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... OMIM:108900
Hemophilia A
Hematemesis, Purpura, Melena, Muscle hemorrhage, Petechiae, Gingival bleeding, Joint hemorrhage, ... OMIM:306700
Glycogen Storage Disease Iv
Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Hepat... OMIM:232500
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... OMIM:607941
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Atrial Standstill 2
Bradycardia, Atrial arrhythmia, Cardiomyopathy, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa... OMIM:620135
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Pericardial constriction, Myoca... OMIM:253250
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis, Epistaxis, He... OMIM:612840
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Petechiae, Macrothrombocytopenia, Absence of alph... OMIM:187900
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy... OMIM:115197
Nemaline Myopathy 9
Polyhydramnios, Ventricular septal defect, Breech presentation, Fetal akinesia sequence OMIM:615731
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Bradycardia, Atrial fibrillation, Increased variability in muscle fiber diame... OMIM:614302
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu... OMIM:620609
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Facial edema OMIM:256550
Long Qt Syndrome 3
Torsade de pointes, Hydrops fetalis, Prolonged QTc interval, Ventricular flutter, Ventricular fib... OMIM:603830
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Ecchymosis, Epistaxis,... OMIM:153670
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Parathyroid carcinoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi... OMIM:145001
Congenital Heart Defects, Multiple Types, 7
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... OMIM:618780
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Giant platelets, Gingival bleeding, Meno... OMIM:231200
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
Boutonneuse Fever
Lymphadenopathy, Petechiae, Vasculitis, Leukopenia, Thrombocytopenia, Renal insufficiency, Cervic... ORPHA:83313
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Heterotaxy, Visceral, 8, Autosomal
Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro... OMIM:617205
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia, Nemaline bodies, Increased variability in muscle fiber diameter, Neonatal death, Wea... OMIM:620265
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Epistaxis, Splenomegaly, Thrombocytopenia OMIM:619463
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog... OMIM:620294
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal... OMIM:173900
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Petechiae, Thrombocytopen... ORPHA:158029
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Polyhydramnios, Nonimmune hydrops fetalis OMIM:613124
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Griscelli Syndrome Type 2
Premature graying of hair, Jaundice, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Petechiae, ... ORPHA:79477
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Corpus cavernosum hypoplasia, Microphallus, Cryptorchidism, Te... OMIM:615542
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, N... ORPHA:85450
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Purpura, Hematuria, Anemia, Vasculitis, Proteinuria, Renal insufficiency ORPHA:375
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Pseudo-Torch Syndrome 2
Petechiae, Pleural effusion, Abnormal renal corticomedullary differentiation, Secundum atrial sep... OMIM:617397
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Venous insufficiency, Abnormal cerebral vascular morphology, Subcutaneous he... ORPHA:743
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy OMIM:619048
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Decreased fetal movement OMIM:253300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter... OMIM:613426
Thrombocytopenia 10
Abnormal bleeding, Petechiae, Decreased mean platelet volume, Spontaneous, recurrent epistaxis, M... OMIM:620484
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Abnormal heart morp... ORPHA:401935
Aortic Valve Disease 1
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... OMIM:109730
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Hematuria, Melena, Petechia... OMIM:306900
Tufted Angioma
Petechiae, Purpura, Anemia, Thrombocytopenia ORPHA:1063
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhage, Leukop... ORPHA:99828
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Seckel Syndrome 9
Recurrent respiratory infections, Recurrent urinary tract infections, Pulmonary artery hypoplasia... OMIM:616777
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch... OMIM:617300
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Renal Tubular Dysgenesis
Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Pulmonary hypoplasi... ORPHA:3033
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Kaposiform Lymphangiomatosis
Enlarged kidney, Epidural hemorrhage, Abnormal bleeding, Anemia, Abnormality of the lymphatic sys... ORPHA:464329
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Prolidase Deficiency
Diffuse telangiectasia, Skin ulcer, Anemia, Petechiae, Hyperimidodipeptiduria, Prolonged neonatal... OMIM:170100
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Wyburn-Mason Syndrome
Vascular dilatation, Arteriovenous malformation, Peripheral arteriovenous fistula, Subarachnoid h... ORPHA:53719
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart OMIM:614474
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Purpura, Warfarin-induced skin necrosis, Venous insufficiency ORPHA:745
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis OMIM:612336
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Anemia, Cerebral hemorrhage OMIM:614514
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Wiskott-Aldrich Syndrome
Hematemesis, Spontaneous hematomas, Epistaxis, Hematochezia, Abnormal platelet morphology, Lympho... ORPHA:906
Pseudo-Torch Syndrome 1
Jaundice, Petechiae, Patent foramen ovale, Thrombocytopenia, Splenomegaly, Patent ductus arterios... OMIM:251290
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Alveolar... OMIM:601186
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Cryptorchidism, Tetr... ORPHA:1166
Non-Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Prominent superficial veins ORPHA:141179
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ascites, Pulmonary arterial hypertension, Fetal pericardial effusion, Nonimmune hyd... OMIM:617021
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreati... OMIM:263200
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... OMIM:619702
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Hydrops fetalis, Splenomegaly, Hepatomegaly ORPHA:2204
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Overriding aorta, Arteriovenous malformation, Abnormal aortic ar... ORPHA:1110
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Parkes Weber Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation, Venous malformation, Vascular dila... ORPHA:90307
Double Outlet Right Ventricle
Cyanosis, Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of... ORPHA:3426
Aicardi-Goutieres Syndrome 1
Purpura, Diabetes insipidus, Petechiae, Vasculitis, Cardiomyopathy, Hypothyroidism, Prolonged neo... OMIM:225750
Familial Hemophagocytic Lymphohistiocytosis
Purpura, Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Petechiae, Ecchymosis, Abnormal ren... ORPHA:540
Snakebite Envenomation
Acute kidney injury, Abnormal bleeding, Stroke, Gingival bleeding, Angioedema, Epistaxis, Ecchymo... ORPHA:449285
Pagod Syndrome
Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aortic morphology, Abnormal testis mor... ORPHA:991
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Drug-Induced Lupus Erythematosus
Hematuria, Anemia, Petechiae, Pericardial effusion, Pericarditis, Thrombocytopenia ORPHA:231111
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Pulmonary artery hypoplasia, Patent ductus arteriosus, Atrial septal defect, Vent... OMIM:300963
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Type I... OMIM:610947
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Abnormal mitral valve morphology, Abnormality of the pulmona... ORPHA:1354
Mitochondrial Complex I Deficiency, Nuclear Type 13
Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Irritability, Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum cre... OMIM:300539
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Mirage Syndrome
Anemia, Hypospadias, Petechiae, Recurrent urinary tract infections, Adrenal hypoplasia, Lymphopen... OMIM:617053
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Renal cyst, Renal agenesis, Hypogonadism, Renal ... OMIM:615993
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites, Hypertrophic... OMIM:616897
Cirrhotic Cardiomyopathy
Left atrial enlargement, Elevated pulmonary artery pressure, Fourth heart sound, Congestive heart... ORPHA:57777
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Dextrocardia, Recurrent urinary tract infections, Polycystic ki... OMIM:613095
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Hepatomegaly, Polyhydramnios, Ascites, Premature birth, Patent ductus arteriosus ORPHA:2123
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Ritscher-Schinzel Syndrome 1
Decreased response to growth hormone stimulation test, Hypospadias, Adrenal hypoplasia, Pulmonic ... OMIM:220210
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death OMIM:600919
Rapidly Involuting Congenital Hemangioma
Peripheral arteriovenous fistula, Prominent superficial veins ORPHA:141184
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Tetralogy of ... OMIM:610205
Partial Atrioventricular Septal Defect
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... ORPHA:1330
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Meningococcal Meningitis
Purpura, Petechiae, Stroke, Increased circulating procalcitonin concentration, Renal insufficiency ORPHA:33475
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Lymphatic Malformation 13
Single umbilical artery, Patent foramen ovale, Lymphedema, Ascites, Pulmonary arterial hypertensi... OMIM:620244
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency ORPHA:624
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy, Premature birth OMIM:618839
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Fetal Gaucher Disease
Stillbirth, Hydrops fetalis, Hepatomegaly, Neonatal death, Splenomegaly, Intracranial hemorrhage,... ORPHA:85212
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, P... OMIM:270100
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Ethylmalonic aciduria ORPHA:51188
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Complement Component 2 Deficiency
Purpura OMIM:217000
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Tubular luminal dilatation, Renal cyst, Hypertrophic cardiomyopathy, H... OMIM:619902
Congenital Enterovirus Infection
Myocarditis, Fetal distress, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Pleura... ORPHA:292
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Enlarged kidney, Atrial septal defect, Hyperechogenic pancreas, Polycysti... OMIM:208540
Spinal Arteriovenous Metameric Syndrome
Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Combined Oxidative Phosphorylation Deficiency 40
Premature birth, Neonatal death, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Congenital Sialidosis Type 2
Abnormality of the kidney, Petechiae, Abnormal heart morphology, Respiratory tract infection, Che... ORPHA:93400
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pericardial effusion, Fetal pleural effusion, Neonatal death, N... OMIM:620014
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Congestive heart failure, Polyhydramnios, Hepatomegaly, Ascites, Portal hypertension, Nonimmune h... ORPHA:367
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus,... OMIM:179613
Acquired Purpura Fulminans
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... ORPHA:49566
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency ORPHA:137608
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... OMIM:610338
Achondrogenesis, Type Ib
Stillbirth, Hydrops fetalis, Polyhydramnios, Breech presentation, Edema OMIM:600972
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Nonimmune hydrops fet... OMIM:619313
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Premature ventricular contr... OMIM:212138
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Ab... OMIM:619374
Meckel Syndrome, Type 8
Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Ethylmalonic aciduria OMIM:602473
Combined Oxidative Phosphorylation Deficiency 57
Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Fetal... OMIM:620167
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Blue Rubber Bleb Nevus
Arteriovenous malformation ORPHA:1059
Supravalvular Aortic Stenosis
Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis OMIM:185500
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy OMIM:614654
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura OMIM:612304
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... ORPHA:97339
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Petechiae, Abnormal platelet sha... OMIM:601399
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death, Reduced left v... OMIM:620203
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Hepatomegaly, Ascites, Fetal skin edema, Pericardial effusion, Splenomegaly, Dec... OMIM:608776
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia OMIM:614702
Congenital Factor V Deficiency
Spontaneous hematomas, Gastrointestinal hemorrhage, Hematuria, Post-partum hemorrhage, Gingival b... ORPHA:326
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Chondrodysplasia, Blomstrand Type
Stillbirth, Polyhydramnios, Hydrops fetalis, Premature birth, Fetal ascites OMIM:215045
Hatipoglu Immunodeficiency Syndrome
Premature graying of hair, Anemia, Hypospadias, Pancytopenia, Petechiae, Recurrent bronchitis, Dr... OMIM:620331
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Hemochromatosis, Type 3
Purpura, Anemia, Cardiomyopathy, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia OMIM:605432
Sialidosis Type 2
Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly, Pedal edema ORPHA:87876
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Syndromic Diarrhea
Thrombocytosis, Polycystic kidney dysplasia, Lymphopenia, Dry skin, Hypoplasia of the thymus, Hyp... ORPHA:84064
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S... ORPHA:101016
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly OMIM:614876
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca... OMIM:614473
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal... OMIM:619657
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis, Right ventricular hypertro... OMIM:178600
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Abnormal heart valve morphology, Hypertr... OMIM:230500
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Hypospadias, Recurrent respiratory infections, Patent foramen ovale, Pulm... OMIM:618316
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena... OMIM:306955
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v... ORPHA:330001
Livedoid Vasculopathy
Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Anemia, Venous insufficiency, Pancyto... ORPHA:542643
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly ORPHA:294
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Hydronephrosis, ... ORPHA:314588
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Subarterial ventricular septal defect, Dry skin, Secundum atrial septa... ORPHA:99646
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Myopathy, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotensio... OMIM:261740
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology ORPHA:83473
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation, Patent ductus arteriosus ORPHA:79094
Adams-Oliver Syndrome
Arteriovenous malformation, Encephalocele, Pulmonary artery atresia, Tetralogy of Fallot, Abnorma... ORPHA:974
Alpha-Thalassemia
Congestive heart failure, Hydrops fetalis, Pleural effusion, Generalized edema, Pericardial effus... ORPHA:846
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Fetal akinesia sequence, Cardiomegaly, Overriding aorta, Ventricular septal defe... OMIM:617022
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Patent ductus arteriosus OMIM:126320
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Primary Release Disorder Of Platelets
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Spontaneous, recurrent epistaxis OMIM:176630
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
8P23.1 Duplication Syndrome
Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Adrenal insuff... ORPHA:251076
Thrombocytopenia 3
Petechiae, Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Peripheral edema, Hepatomegaly, Reduced left ventricular ejection... ORPHA:1677
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Recurrent respiratory infections, Ureteral stenosis, Secundum atrial ... ORPHA:2257
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep... OMIM:618652
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Arteriovenous fistula, Peripheral arteriovenous fistula, Vein of Gale... ORPHA:137667
Sepsis In Premature Infants
Abnormal bleeding, Jaundice, Purpura, Cyanosis, Anemia, Petechiae, Leukocytosis, Thrombocytopenia... ORPHA:90051
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Gingival bleeding, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Epistaxis, Oliguria, A... ORPHA:340
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia OMIM:211890
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left... ORPHA:3304
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v... ORPHA:1457
Stormorken-Sjaastad-Langslet Syndrome
Purpura, Anemia, Asplenia ORPHA:3204
Hermansky-Pudlak Syndrome 1
Cardiomyopathy, Gingival bleeding, Hematochezia, Epistaxis, Ecchymosis, Bruising susceptibility, ... OMIM:203300
Intellectual Developmental Disorder, Autosomal Recessive 73
Decreased fetal movement, Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Congenital Syphilis
Myocarditis, Palmoplantar scaling skin, Purpura, Anemia, Lymphadenopathy, Petechiae, Nephrotic sy... ORPHA:499009
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, T lymphocyt... OMIM:300400
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Ehlers-Danlos Syndrome, Periodontal Type, 2
Gingival bleeding, Fragile skin, Nephroblastoma, Bruising susceptibility, Prominent superficial v... OMIM:617174
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Abnormality of the amniotic fluid, Arrhythmia, Dilated... OMIM:609015
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus OMIM:616622
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Epistaxis, Thrombocytopenia, Macro... OMIM:616176
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Polycystic kidney dysplasia, Abnormal heart morphology, Pulmonary hypoplasia OMIM:263210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ... OMIM:609286
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Decreased fetal movement, Edema, Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Fucosidosis
Petechiae, Vacuolated lymphocytes, Dry skin, Glycopeptiduria, Cherry red spot of the macula, Angi... OMIM:230000
Thrombocytopenia 1
Petechiae, Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytop... OMIM:313900
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Pulmonary artery hypoplasia, Cryptorchidism, Pulmona... OMIM:620025
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Prune Belly Syndrome
Hydroureter, Recurrent respiratory infections, Renal insufficiency, Abnormality of the bladder, R... ORPHA:2970
Lymphatic Malformation 6
Facial edema, Polyhydramnios, Chylothorax, Genital edema, Lymphedema, Pleural effusion, Ascites, ... OMIM:616843
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o... ORPHA:3097
Gray Platelet Syndrome
Abnormal bleeding, Thrombocytopenia, Epistaxis, Splenomegaly, Bruising susceptibility ORPHA:721
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Currarino Syndrome
Arteriovenous malformation ORPHA:1552
Gaucher Disease, Perinatal Lethal
Purpura, Anemia, Petechiae, Pulmonary hypoplasia, Splenomegaly, Hepatosplenomegaly, Thrombocytope... OMIM:608013
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Glomerulopathy, Purpura, Hematuria, Vasculitis, Transient ischemic attack, Hypertrop... ORPHA:183
Simple Cryoglobulinemia
Abnormality of the kidney, Gastrointestinal hemorrhage, Purpura, Acral ulceration, Vascular skin ... ORPHA:91139
Pituitary Adenoma 4, Acth-Secreting
Purpura, Facial erythema, Nephrolithiasis, Pituitary adenoma, Ecchymosis, Increased circulating A... OMIM:219090
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Purpura, Lymphadenopathy, Vasculitis, Urticaria, Acrocyanosis, Erythema ORPHA:343
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Umbilical hernia ORPHA:584
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
Trisomy 17P
Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis... ORPHA:261290
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Normocytic anemia, Lymphadenopathy, Vasculitis, Stroke, Gin... ORPHA:33226
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... ORPHA:261243
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Maternal diabetes, Long penis, Polycystic kidney dysplasia, Abnormal lo... ORPHA:1988
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Retinal hemorrhage, Dilatation of the cerebral artery... OMIM:611773
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, Ascites,... ORPHA:69735
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Rena... OMIM:617478
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Peroxisome Biogenesis Disorder 2A (Zellweger)
Jaundice, Polycystic kidney dysplasia, Hypoplasia of the thymus, Abnormal heart morphology, Crypt... OMIM:214110
Congenital Tracheomalacia
Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Cyanosis, Emphysema, Right ao... ORPHA:95430
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cyanosis, Hemorrhagic ovarian cyst, Gingival bleed... ORPHA:335
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypoglycemia OMIM:617872
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Trisomy 1Q
Hydrops fetalis, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosus, Ventric... ORPHA:261344
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Bleeding Disorder In Hemophilia A Carriers
Spontaneous hematomas, Abnormal bleeding, Post-partum hemorrhage, Menorrhagia, Joint hemorrhage, ... ORPHA:177926
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunoglobulin A Vasculitis
Glomerulopathy, Gastrointestinal hemorrhage, Hematuria, Purpura, Vascular skin abnormality, Skin ... ORPHA:761
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Premature birth, Ascites ORPHA:858
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Bronchiectasis, Aortic valve stenosis, Pulmona... OMIM:615067
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Varicose veins, Neutropenia, Secundum a... OMIM:612541
Hyperlysinemia
Argininuria, Decreased urine alpha-ketoglutarate concentration, Pulmonary artery hypoplasia, Recu... ORPHA:2203
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Anemia, Petechiae, Abnormal lymphatic vessel morphology, Ret... ORPHA:2330
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Cognitive impairment, Attention deficit hyperactivity disord... ORPHA:369873
Trisomy 13
Hydrops fetalis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus ORPHA:3378
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis ORPHA:2111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Vascular dilatation, Anemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disea... OMIM:617056
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c OMIM:616511
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Tetralogy of Fallot, Supravalvular aortic stenosis OMIM:618624
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune... OMIM:153400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c... OMIM:619051
Microphthalmia, Syndromic 12