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Gene: Bmp10 MGI:1338820

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Gene Summary

Name:
bone morphogenetic protein 10
Synonyms:
b2b2711Clo

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Bmp10tm3b(EUCOMM)Hmgu HET Early adult 2.69×10-07
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
preweaning lethality, complete penetrance Bmp10tm3b(EUCOMM)Hmgu HOM   Early adult 0.00

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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 Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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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, Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy ORPHA:3283
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of a... ORPHA:1209
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Ethanolaminosis
Cardiomegaly OMIM:227150
Indomethacin Embryofetopathy
Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt... ORPHA:1909
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm... OMIM:616749
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency ORPHA:295
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect, T-wave al... OMIM:618782
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation, Atrial septal defect OMIM:613087
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter... ORPHA:1208
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... OMIM:614022
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Mit... OMIM:616201
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Fetal And Neonatal Alloimmune Thrombocytopenia
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Hematuria, Neonatal a... ORPHA:853
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602087
Factor Xiii, B Subunit, Deficiency Of
Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolon... OMIM:613235
Truncus Arteriosus
Cyanosis, Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery st... ORPHA:3384
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... OMIM:617610
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... ORPHA:185
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... OMIM:231060
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... OMIM:602086
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hydrops fetalis, Pulmonary insufficiency, Hepatomegaly, Ascites, Pulm... OMIM:619433
Nephronophthisis 16
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... OMIM:615382
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ... ORPHA:280779
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... OMIM:617280
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Hepatomegaly, Fetal peric... OMIM:619462
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Reticulocytosis, Epistaxis, I... OMIM:314050
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Complement Component 4A Deficiency
Cutaneous photosensitivity, Purpura, Glomerulonephritis, Vasculitis OMIM:614380
Hydrops Fetalis
Polyhydramnios, Lymphedema, Pericardial effusion, Increased placental thickness, Nonimmune hydrop... ORPHA:1041
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... OMIM:613751
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Myopathy, Myofibrillar, 1
Third degree atrioventricular block, Restrictive cardiomyopathy, Dilated cardiomyopathy, EMG: myo... OMIM:601419
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Cardiomyopathy, Familial Hypertrophic, 6
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Asymmetric septal hypertrophy, Conges... OMIM:600858
Thrombocytopenia 5
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia OMIM:616216
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged bleeding after surge... OMIM:609821
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Congestive... ORPHA:2414
Cryoglobulinemic Vasculitis
Glomerulopathy, Petechiae, Skin ulcer, Purpura, Cutis marmorata, Hematuria, Gastrointestinal hemo... ORPHA:91138
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Capillary Malformation-Arteriovenous Malformation 1
Arteriovenous malformation, Arteriovenous fistula OMIM:608354
Laubry-Pezzi Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... ORPHA:99094
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Single umbilical artery, Abnormal tri... ORPHA:3405
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... OMIM:618773
Transaldolase Deficiency
Hydrops fetalis, Telangiectasia, Atrial septal defect, Hepatosplenomegaly, Biventricular hypertro... ORPHA:101028
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Hepatom... ORPHA:163596
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Mitral valve prolapse, Striae distensae, Petechiae OMIM:225310
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... OMIM:612124
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
Arterial Dissection-Lentiginosis Syndrome
Arteriovenous malformation, Arterial dissection ORPHA:1682
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... OMIM:115200
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... OMIM:613759
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis OMIM:236750
Congenital Factor Xiii Deficiency
Myeloid leukemia, Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persisten... ORPHA:331
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Br... OMIM:618815
Infantile Sialic Acid Storage Disease
Premature birth, Hydrops fetalis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, ... OMIM:269920
Congenital Disorder Of Glycosylation, Type Ik
Nonimmune hydrops fetalis, Hepatomegaly, Abnormality of the amniotic fluid, Splenomegaly, Cardiom... OMIM:608540
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Cerebral Arteriovenous Malformation
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:46724
Atrial Fibrillation, Familial, 15
Sudden cardiac death, Supraventricular tachycardia, Left atrial enlargement, Atrial flutter, Atri... OMIM:615770
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Double outlet right ventricle, Decreased testicular size, Bilateral cryptorchidism, Ren... ORPHA:2326
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Glanzmann Thrombasthenia
Spontaneous, recurrent epistaxis, Purpura, Bruising susceptibility, Ecchymosis, Prolonged bleedin... ORPHA:849
Immunodeficiency, Common Variable, 6
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... OMIM:613496
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Bicuspid aorti... OMIM:618845
Bernard-Soulier Syndrome
Petechiae, Partially duplicated kidney, Spontaneous, recurrent epistaxis, Giant platelets, Abnorm... ORPHA:274
Klippel-Trénaunay Syndrome
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial s... ORPHA:90308
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Petechiae, Nephrotic syndrome, Coo... OMIM:603909
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:619003
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect OMIM:614432
Bleeding Disorder, Platelet-Type, 16
Anemia, Petechiae, Abnormal bleeding, Thrombocytopenia, Giant platelets, Platelet anisocytosis, M... OMIM:187800
Glanzmann Thrombasthenia 1
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... OMIM:273800
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... OMIM:300367
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... ORPHA:168796
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Bruising susceptibilit... ORPHA:1959
Iga Nephropathy, Susceptibility To, 1
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Purpura, Nephritis, ... OMIM:161950
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Menorrhagia, Prolonged b... OMIM:614201
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Petechiae, Purpura, Abnormal bleeding, Bruising susceptibility, Diffuse alveo... ORPHA:520
Cutaneous Small Vessel Vasculitis
Vasculitis, Purpura, Cutis marmorata, Erythema, Urticaria ORPHA:889
Atrial Standstill 1
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... OMIM:108770
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... OMIM:604772
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Glycogen Storage Disease Iv
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Hepatosplenomegaly, Edema, Portal hype... OMIM:232500
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial septal defect, Atrioventricular block, Abnormal heart morpholog... OMIM:614954
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Sick sinus syndrome, Arrhythmia OMIM:617173
Right Atrial Isomerism
Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Abnormal... OMIM:208530
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Lymphedema, Atrial septal d... OMIM:601927
Primary Myelofibrosis
Anemia, Petechiae, Abnormal bleeding, Purpura, Pancytopenia, Ecchymosis, Pallor, Hepatosplenomega... ORPHA:824
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614009
Coronary Arterial Fistula
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... ORPHA:2041
Cardiac Diverticulum
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... ORPHA:1686
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistax... OMIM:612840
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Atrial Standstill 2
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... OMIM:615745
Bleeding Disorder, Platelet-Type, 17
Petechiae, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Macrothrombocytopen... OMIM:187900
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... OMIM:618719
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Familial Atrial Myxoma
Pedal edema, Bacterial endocarditis, Pulmonic valve myxoma, Heart murmur, Congestive heart failur... ORPHA:615
Mulibrey Nanism
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatom... OMIM:253250
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Patent foramen ovale, Bradycardia, Sick sinus syndrome OMIM:617182
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... OMIM:108900
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Ecchymosis, E... OMIM:153670
Purpura Simplex
Epistaxis, Menorrhagia, Purpura, Bruising susceptibility OMIM:179000
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Epidermolysis Bullosa Simplex 5A, Ogna Type
Bruising susceptibility, Skin fragility with non-scarring blistering OMIM:131950
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Cardiomegaly, Ascites, Facial edema, Splenomegaly, Cardiomyopathy OMIM:256550
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Nemaline Myopathy 9
Breech presentation, Polyhydramnios, Fetal akinesia sequence, Ventricular septal defect OMIM:615731
Polycystic Kidney Disease 7
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... OMIM:620056
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Hydrops fetalis, Syncope, Nonimmune hydrops fetalis, Ve... OMIM:603830
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Bernard-Soulier Syndrome
Giant platelets, Abnormal bleeding, Purpura, Epistaxis, Thrombocytopenia, Gingival bleeding, Meno... OMIM:231200
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... OMIM:620135
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Mediastinal lymphadenopathy, Thrombocytopen... ORPHA:158029
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Boutonneuse Fever
Leukopenia, Petechiae, Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Renal insuffi... ORPHA:83313
Isolated Right Ventricular Hypoplasia
Patent foramen ovale, Pedal edema, Right bundle branch block, Bidirectional shunt, Systolic heart... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 16
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... OMIM:613838
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Pancreatic adenocarcinoma, Parathyroid adenoma, Papillary renal cell carcinoma, P... OMIM:145001
RCAD (renal cysts and diabetes)
Diabetes mellitus, Multiple renal cysts DECIPHER:47
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Portal Hypertension, Noncirrhotic, 2
Petechiae, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:619463
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenome... ORPHA:85450
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... OMIM:617205
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hepatic cysts, Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Renal... OMIM:173900
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Subcutaneous hemorrhage, Abnormal cerebral vascular morphology, Skin ulcer, Purpura, Venous insuf... ORPHA:743
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Cardiomyopathy, Dilated, 1G
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Combined Oxidative Phosphorylation Deficiency 8
Reduced left ventricular ejection fraction, Congestive heart failure, Hypertrophic cardiomyopathy... OMIM:614096
Combined Oxidative Phosphorylation Deficiency 41
Premature birth, Cardiomegaly, Nonimmune hydrops fetalis OMIM:618838
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... OMIM:613642
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Maternal ter... ORPHA:860
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... OMIM:601154
Griscelli Syndrome Type 2
Premature graying of hair, Petechiae, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, ... ORPHA:79477
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Congestive heart failure OMIM:619048
Testicular Anomalies With Or Without Congenital Heart Disease
Abnormality of thyroid physiology, Microphallus, Cryptorchidism, Corpus cavernosum hypoplasia, Pe... OMIM:615542
Dengue Fever
Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Gingival bleeding... ORPHA:99828
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Pleural ... OMIM:617397
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Ambiguous atr... ORPHA:216694
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Anemia, Renal insufficiency, Hematuria, Purpura, Proteinuria, Vasculitis ORPHA:375
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas
Arteriovenous fistula OMIM:600419
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Cyanosi... ORPHA:99050
Spinal Muscular Atrophy, Type I
Decreased fetal movement, Ventricular septal defect, Atrial septal defect OMIM:253300
Timothy Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval,... OMIM:601005
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... OMIM:613426
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... OMIM:617300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Warfarin-induced skin necrosis, Venous insufficiency, Purpura, Abnormal cerebral vascular morphology ORPHA:745
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... OMIM:618780
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Renal hypoplasia, Pulmo... OMIM:612946
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Tufted Angioma
Anemia, Thrombocytopenia, Purpura, Petechiae ORPHA:1063
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Aortic Valve Disease 1
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... OMIM:109730
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... OMIM:608569
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... OMIM:613690
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Wiskott-Aldrich Syndrome
Glomerulopathy, Hypoplasia of the thymus, Skin ulcer, Prolonged bleeding time, Hematemesis, Throm... ORPHA:906
Wyburn-Mason Syndrome
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... ORPHA:53719
Microphthalmia, Syndromic 9
Truncus arteriosus, Pulmonary hypoplasia, Ventricular septal defect, Bilateral lung agenesis, Atr... OMIM:601186
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Renal Tubular Dysgenesis
Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Tetralogy of Fallo... ORPHA:3033
Seckel Syndrome 9
Ventricular septal defect, Recurrent urinary tract infections, Atrial septal defect, Pulmonary ar... OMIM:616777
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Pericardial effusion, Abnormal sp... ORPHA:464329
Drug-Induced Lupus Erythematosus
Anemia, Petechiae, Pericardial effusion, Hematuria, Pericarditis, Thrombocytopenia ORPHA:231111
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Purpura OMIM:612336
Pseudo-Torch Syndrome 1
Patent ductus arteriosus, Patent foramen ovale, Petechiae, Jaundice, Thrombocytopenia, Renal insu... OMIM:251290
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Petechiae, Jaundice, Purpura, Abnormal renal physiology, Bruising susceptibility, Ecchymo... ORPHA:540
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Ectopic kidney, Abnormal hea... ORPHA:401935
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Hypothyroidism, Diabetes insipidus, Petechiae, Acrocyanosis, Purpura, Thrombocyto... OMIM:225750
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... OMIM:600884
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... OMIM:601331
Double Outlet Right Ventricle
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/H... ORPHA:3426
Prolidase Deficiency
Anemia, Petechiae, Skin ulcer, Recurrent pneumonia, Hyperimidodipeptiduria, Thrombocytopenia, Pro... OMIM:170100
Muscular Dystrophy, Becker Type
Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Right ventricular cardiomyopathy, Fib... OMIM:609040
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Splenomegaly, Hepatomegaly ORPHA:2204
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage OMIM:614514
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Intrauterine growth retardation, Abnormal aortic ar... ORPHA:1110
Snakebite Envenomation
Angioedema, Acute kidney injury, Abnormal bleeding, Intracranial hemorrhage, Hypopituitarism, Ecc... ORPHA:449285
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... OMIM:263200
Pagod Syndrome
Abnormal aortic morphology, Multicystic kidney dysplasia, Abnormal testis morphology, Renal hypop... ORPHA:991
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula ORPHA:141179
Mirage Syndrome
Patent ductus arteriosus, Leukopenia, Anemia, Aspiration pneumonia, Petechiae, Recurrent urinary ... OMIM:617053
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... OMIM:220210
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Hepatomegaly, Ascites, Premature birth ORPHA:2123
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia OMIM:617021
Parkes Weber Syndrome
Vascular dilatation, Arteriovenous malformation, Cerebral arteriovenous malformation, Vascular to... ORPHA:90307
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, ... OMIM:615993
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... OMIM:140400
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Jaundice, Polycystic kidney d... OMIM:613095
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... ORPHA:1166
Cardiac Valvular Dysplasia 1
Patent foramen ovale, Hydrops fetalis, Ventricular septal defect, Valvular pulmonary stenosis, Mi... OMIM:212093
Congenital Gerbode Defect
Pulmonary arterial hypertension, Pedal edema, Systolic heart murmur, Bacterial endocarditis, Vent... ORPHA:99095
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Hypertrophic cardio... OMIM:616897
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Partial Atrioventricular Septal Defect
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... ORPHA:1330
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Hypogonadism OMIM:615987
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... ORPHA:85451
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... OMIM:613873
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Premature ventricular contr... OMIM:212138
Congenital Sialidosis Type 2
Respiratory tract infection, Telangiectasia, Petechiae, Abnormality of the kidney, Hepatosplenome... ORPHA:93400
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Fetal Gaucher Disease
Fetal akinesia sequence, Hydrops fetalis, Decreased fetal movement, Intracranial hemorrhage, Stil... ORPHA:85212
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... OMIM:115000
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Decreased fet... ORPHA:292
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula ORPHA:141184
Immunodeficiency 81
Petechiae, Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, ... OMIM:619374
Cardiomyopathy, Dilated, 2F
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... OMIM:619747
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... OMIM:300539
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal mi... ORPHA:1354
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Acrocyanosis, Intracranial hemorrhage, Internal hemorrhage... ORPHA:49566
Familial Multiple Nevi Flammei
Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency ORPHA:624
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Neonatal death, Premature birth, Cardiomyopathy OMIM:618839
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Ethylmalonic aciduria ORPHA:51188
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Pulmonary edema, Thir... ORPHA:57777
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Oligohydramnios, Hepatomegaly, Cardiomegaly, Cardiomyopathy OMIM:617713
Complement Component 2 Deficiency
Purpura OMIM:217000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Fetal akinesia sequence, Dilated cardiomyopathy, Nonimmune hydrops fetalis, Hepat... ORPHA:367
Meningococcal Meningitis
Renal insufficiency, Stroke, Purpura, Petechiae ORPHA:33475
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Atrioventricular block, Cardiomyopathy ORPHA:85447
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Nephronophthisis 20
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... OMIM:617271
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... OMIM:610947
Spinal Arteriovenous Metameric Syndrome
Arteriovenous malformation, Spinal arteriovenous malformation ORPHA:53721
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Breech presentation, Edema, Stillbirth OMIM:600972
Renal-Hepatic-Pancreatic Dysplasia 1
Patent ductus arteriosus, Pancreatic cysts, Asplenia, Renal dysplasia, Stage 5 chronic kidney dis... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Nonimmune hydrops fetalis, Neonatal death, Premature birth OMIM:618835
Hepatorenocardiac Degenerative Fibrosis
Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatosplenomegaly, Renal ... OMIM:619902
Lymphatic Malformation 12
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... OMIM:620014
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia, Left ventricular hypertrophy OMIM:614654
Alagille Syndrome 2
Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe... OMIM:610205
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... OMIM:607450
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... OMIM:618061
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Congenital thrombocytopenia, Aplastic anemia OMIM:605432
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... OMIM:610338
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency ORPHA:137608
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Premature birth OMIM:215045
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Ethylmalonic aciduria OMIM:602473
Meckel Syndrome, Type 8
Pericardial effusion, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lung, Double outlet right ventricle, Patent ductus arteriosus, Ascending tubul... OMIM:270100
Blue Rubber Bleb Nevus
Arteriovenous malformation ORPHA:1059
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura OMIM:612304
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... OMIM:619313
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... ORPHA:326
Fibrinolytic Defect
Spontaneous hematomas OMIM:134900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... ORPHA:542306
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia OMIM:614702
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Dilated cardiomyopathy, Congestive heart failur... OMIM:230500
Congenital Myopathy 8
Cardiomegaly, Congestive heart failure OMIM:618654
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly OMIM:614876
Livedoid Vasculopathy
Macular purpura, Anemia, Ischemic stroke, Abnormal capillary morphology, Skin ulcer, Cutis marmor... ORPHA:542643
Dural Sinus Malformation
Cerebellar hemorrhage, Vascular dilatation, Cerebral hemorrhage, Carotid cavernous fistula, Intra... ORPHA:97339
Phakomatosis Pigmentovascularis
Arteriovenous malformation ORPHA:2875
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Poor wound healing, Gastrointestinal hemorrhage OMIM:262800
Hemochromatosis, Type 3
Anemia, Purpura, Lymphopenia, Hypogonadotropic hypogonadism, Neutropenia, Cardiomyopathy OMIM:604250
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Polycystic kidney dysplasia, Abnormal cardiac septum morphology, Hepatosple... OMIM:608776
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... OMIM:615184
Syndromic Diarrhea
Patent ductus arteriosus, Hypothyroidism, Splenomegaly, Hypoplasia of the thymus, Ventricular sep... ORPHA:84064
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... OMIM:619657
Sialidosis Type 2
Pedal edema, Hydrops fetalis, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... OMIM:617805
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Atrial septal defect, Hypoplas... OMIM:615996
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... ORPHA:300751
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... OMIM:618316
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Type 1 muscle fi... OMIM:613507
Heterotaxy, Visceral, 1, X-Linked
Cyanosis, Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Bilateral trilobe... OMIM:306955
Arterial Calcification, Generalized, Of Infancy, 2
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... OMIM:614473
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, T-wave inversion, ST segment depression, Congestive heart fail... OMIM:261740
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Acute myelomonocytic leukemia, D-2-hydroxyglutaric aciduria, Subarterial ventricular septal defec... ORPHA:99646
Sepsis In Premature Infants
Cyanosis, Anemia, Petechiae, Jaundice, Purpura, Abnormal bleeding, Pallor, Oliguria, Reversible r... ORPHA:90051
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:83473
Grange Syndrome
Patent ductus arteriosus, Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Distal Tetrasomy 15Q
Patent ductus arteriosus, Nephroblastoma, Abnormality of the kidney, Polycystic kidney dysplasia,... ORPHA:314588
Adams-Oliver Syndrome
Encephalocele, Arteriovenous malformation, Abnormal pulmonary valve morphology, Pulmonary artery ... ORPHA:974
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect OMIM:615297
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi... OMIM:605376
Lethal Congenital Contracture Syndrome 10
Fetal akinesia sequence, Hydrops fetalis, Ventricular septal defect, Oligohydramnios, Cardiomegal... OMIM:617022
Mitochondrial Trifunctional Protein Deficiency 1
Hydrops fetalis, Prenatal maternal abnormality, Dilated cardiomyopathy, Congestive heart failure,... OMIM:609015
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Pleural effusion, Glomerulonephritis, Oliguria, Hematemesis, ... ORPHA:340
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Pulmonary Hypertension, Primary, 1
Telangiectasia, Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary ateri... OMIM:178600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Right ventricular dilatation, First degree atrioventricular block, Left ... OMIM:615616
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia OMIM:126320
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Atrial septal defect, Tetralog... ORPHA:3304
Primary Ciliary Dyskinesia
Double outlet right ventricle, Respiratory tract infection, Asplenia, Bronchiectasis, Polysplenia... ORPHA:244
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume, Petechiae OMIM:273900
Primary Release Disorder Of Platelets
Spontaneous, recurrent epistaxis, Menorrhagia, Abnormal bleeding, Bruising susceptibility OMIM:176630
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia, Purpura ORPHA:3204
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect ORPHA:3469
Atrial Septal Defect, Sinus Venosus Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... ORPHA:99105
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Familial Idiopathic Dilatation Of The Right Atrium
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... ORPHA:1677
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Decreased fetal movement, Ventricular septal defect OMIM:619717
Ehlers-Danlos Syndrome, Periodontal Type, 2
Nephroblastoma, Bruising susceptibility, Prominent superficial veins, Fragile skin, Gingival blee... OMIM:617174
Campomelia, Cumming Type
Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Decreased fetal movement, Dilated cardiomyopathy, Edema OMIM:607598
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Gaucher Disease, Perinatal Lethal
Anemia, Petechiae, Purpura, Pulmonary hypoplasia, Hepatosplenomegaly, Cardiomegaly, Thrombocytope... OMIM:608013
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Idiopathic Aplastic Anemia
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... ORPHA:88
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Prolonged bleeding time, Renal... OMIM:203300
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive ... OMIM:301000
Simple Cryoglobulinemia
Mesangial hypercellularity, Renal insufficiency, Chronic lymphatic leukemia, Nephrotic syndrome, ... ORPHA:91139
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Right bundle branch block, Decreased muscle mass, T-wave inversion, Vent... ORPHA:263297
Capillary Malformation-Arteriovenous Malformation
Arteriovenous malformation, Cerebral arteriovenous malformation, Vein of Galen aneurysmal malform... ORPHA:137667
Bleeding Disorder, Platelet-Type, 19
Anemia, Abnormal bleeding, Epistaxis, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia, Spont... OMIM:616176
Thrombocytopenia 1
Petechiae, Bruising susceptibility, Epistaxis, Congenital thrombocytopenia, Decreased mean platel... OMIM:313900
8P23.1 Duplication Syndrome
Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Pulmonic stenosis, Hydrone... ORPHA:251076
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Bradycardia, Arrhythmia, Limb muscle weak... OMIM:609286
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Neurooculocardiogenitourinary Syndrome
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... OMIM:618652
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly OMIM:616622
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Acrocyanosis, Purpura, Lymphadenopathy, Erythema, Gastrointestinal hemorrhage, Urticaria ORPHA:343
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortic root aneurysm, Aortopulmonary window, Ventricular septal defect, Pulmonary hypoplasia, Pul... OMIM:620025
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural effusion, Ed... OMIM:616843
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Polycystic kidney dysplasia, Abnormal lung lobation, Pulmonary hypoplasia OMIM:263210
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Striae distensae, Increased circulating ACTH level, Purpura, Pituitary adenoma, ... OMIM:219090
Gray Platelet Syndrome
Abnormal bleeding, Bruising susceptibility, Epistaxis, Thrombocytopenia, Splenomegaly ORPHA:721
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Currarino Syndrome
Arteriovenous malformation ORPHA:1552
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Congenital Tricuspid Valve Dysplasia
Premature birth, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion,... ORPHA:555874
Eosinophilic Granulomatosis With Polyangiitis
Tubulointerstitial nephritis, Glomerulopathy, Abnormal pleura morphology, Endocarditis, Abnormal ... ORPHA:183
Waldenström Macroglobulinemia
Retinal hemorrhage, Renal insufficiency, Leukemia, Normocytic anemia, Vasculitis, Purpura, Cutis ... ORPHA:33226
Kasabach-Merritt Syndrome
Leukopenia, Anemia, Petechiae, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Prolo... ORPHA:2330
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... OMIM:618270
Prune Belly Syndrome
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... ORPHA:2970
Myelofibrosis
Myeloproliferative disorder, Purpura, Splenomegaly, Pallor OMIM:254450
Meacham Syndrome
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Crossed fused renal ectopi... ORPHA:3097
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Decreased testicular size, Abnormal ... ORPHA:335
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance OMIM:145750
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect OMIM:601322
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Trisomy 1Q
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Increased n... ORPHA:261344
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal d... OMIM:617478
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Ureteral stenosis, D... ORPHA:2257
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... ORPHA:93126
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Jaundice, Abnormal heart mo... OMIM:214110
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Maternal diabetes, Long penis, Abnormal lo... ORPHA:1988
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Recurrent upper respiratory tr... OMIM:614075
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Plantar telangiectasia, Predominantly lower limb lymphedema, Pleural effusion, P... ORPHA:69735
Trisomy 13
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Atrial septal defect ORPHA:3378
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart ORPHA:3316
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Retinal arteriolar tortuosity, Hematuria, Renal cyst, Lacunar stroke, Dilatat... OMIM:611773
Immunoglobulin A Vasculitis
Glomerulopathy, Renal insufficiency, Vasculitis, Skin ulcer, Purpura, Hematuria, Bruising suscept... ORPHA:761
Aortic Arch Interruption
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... ORPHA:2299
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... OMIM:616812
Bleeding Disorder In Hemophilia A Carriers
Post-partum hemorrhage, Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged bleeding... ORPHA:177926
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Umbilical hernia ORPHA:584
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed... OMIM:153400
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hypotonia, Infantile, With Psychomotor Retardation
Decreased fetal movement, Ventricular septal defect OMIM:616816
Hemochromatosis, Type 1
Telangiectasia, Congestive heart failure, Pleural effusion, Hepatomegaly, Arrhythmia, Cardiomegal... OMIM:235200
Brugada Syndrome 1
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... OMIM:601144
Noonan Syndrome 12
Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ventricular septal defect OMIM:618624
Congenital Toxoplasmosis
Cardiomegaly, Ascites, Premature birth, Hepatomegaly ORPHA:858
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... OMIM:614916
Hyperlysinemia
Hyperlysinuria, Cystinuria, Pulmonary artery hypoplasia, Recurrent pneumonia, Argininuria, Decrea... ORPHA:2203
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Vascular dilatation, Neutropenia, Renal cyst, Nephropathy, Focal segmental glomeruloscler... OMIM:617056
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Secundum atrial septal defect, Hepatosplenomegaly, Thrombocytopenia, Sp... OMIM:612541
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
16P13.11 Microduplication Syndrome
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Cln3 Disease
T-wave inversion, Bradycardia, Left ventricular hypertrophy ORPHA:228346
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Bronchiolitis obliterans,... OMIM:617241
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Petechiae, Pancytopenia, Bone marrow hypoce... OMIM:620133
Gm1 Gangliosidosis
Patent ductus arteriosus, Premature birth, Hydrops fetalis, Ventricular septal defect, Congestive... ORPHA:354
Congenital Megacalycosis
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... ORPHA:93109
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:616511
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration OMIM:617872
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Aorta Coarctation
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... ORPHA:1457
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Pu... OMIM:231680
Melorheostosis
Peripheral arteriovenous fistula ORPHA:2485
Isolated Polycystic Liver Disease
Vascular dilatation, Multiple renal cysts, Gastrointestinal hemorrhage ORPHA:2924
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgi... OMIM:212140
Pelizaeus-Merzbacher Disease
Arteriovenous malformation ORPHA:702
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Cardiomyopathy, Dilated, 1Y
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... OMIM:611878
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Double outlet right ventricle, Vesicoureteral reflux, Leukopenia, Ventricular septal defect, Pulm... OMIM:301056
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility OMIM:613554
Mixed Connective Tissue Disease