Gene Summary

Name:
inversin
Synonyms:
N/A

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
edema Invsem1(IMPC)Bay HOM E15.5 0.00
hemorrhage Invsem1(IMPC)Bay HOM E18.5 0.00
preweaning lethality, complete penetrance Invsem1(IMPC)Bay HOM   Early adult 0.00

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

2 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Invs mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Lipedema
Edema OMIM:614103
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Intesti... ORPHA:1666
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo... ORPHA:244
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Bronchiectasis, Dextrocardia OMIM:617577
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Thoracic aortic aneurysm, Dextr... OMIM:619657
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Bile duct prol... OMIM:208540
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Recurrent sinu... OMIM:615482
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage... OMIM:613550
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso... OMIM:314390
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat... OMIM:300555
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic... OMIM:603860
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ... OMIM:256100
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Occipital menin... OMIM:243910
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Nephronophthisis 4
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... OMIM:606966
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:602114
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Branchial anomaly, Ve... ORPHA:1296
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activi... OMIM:230350
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Trichohepatoenteric Syndrome 1
Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hyposp... OMIM:222470
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia OMIM:230200
Bardet-Biedl Syndrome 16
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Short s... OMIM:615993
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Cholestasis, Postnatal growth retardation, Dark urine, Hyperbilirubinemia, ... ORPHA:79303
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism OMIM:615633
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia OMIM:106700
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Failure to... ORPHA:2088
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,... OMIM:239199
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Hypokalem... OMIM:611590
Granulomatous Slack Skin
Erythema, Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts, Abnormal circulating... ORPHA:79323
You-Hoover-Fong Syndrome
Double aortic arch, Cleft palate, Coarctation of aorta, Vascular ring OMIM:616954
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Elevat... OMIM:614866
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurre... OMIM:613807
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... ORPHA:1759
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias OMIM:245550
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, In... OMIM:174050
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Rotor Syndrome
Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi... ORPHA:3111
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho... ORPHA:79333
C Syndrome
Failure to thrive, Renal cortical cysts, Cryptorchidism, Ventricular septal defect, Hepatomegaly,... OMIM:211750
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy... OMIM:276700
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney, Failure to thrive OMIM:615285
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Bardet-Biedl Syndrome 4
Renal cyst, Obesity, Cryptorchidism, Abnormality of the kidney OMIM:615982
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum ... OMIM:601612
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr... ORPHA:3156
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concent... OMIM:616833
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Occipital encephalocele, Failure to thri... ORPHA:397715
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Parat... ORPHA:99879
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver ORPHA:140976
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Renal ... ORPHA:445038
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive, Atrial septal defect ORPHA:500533
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, ... OMIM:602722
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Elevated circulating long chain fatty acid concentration, Fai... OMIM:214100
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... OMIM:619113
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hyp... ORPHA:94086
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures OMIM:146200
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Failure to thrive OMIM:609180
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis, Atrial septal defect OMIM:611087
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Ventricular septal de... OMIM:614815
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch, Dysph... OMIM:230900
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Partia... OMIM:615996
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Cryptorchidism, Dextrocardia, High palate, Anal atresia, Patent ductus ... ORPHA:2863
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Stage 5 chronic kidney disease, Cryptorchidism, Neonatal death, Hydron... OMIM:613390
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Hydroxykynureninuria
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration, Congenita... ORPHA:446
3C Syndrome
High, narrow palate, Aortic valve stenosis, Hypoplastic left heart, Gastroesophageal reflux, Recu... ORPHA:7
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Hepatic agenesis... ORPHA:1692
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Mitral regurgitation, Splenomegaly... OMIM:230800
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Nephronophthisis 18
Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c... OMIM:615862
Meckel Syndrome, Type 8
Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Pericardial effusion, Polycystic ... OMIM:613885
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Hypophosphatasia, Infantile
Nephrocalcinosis, Disproportionate short-limb short stature, Phosphoethanolaminuria, Failure to t... OMIM:241500
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce... OMIM:619386
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r... OMIM:613861
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, F... OMIM:260400
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Microphallus, Premature skin wrinkling, Delayed puberty, Abdominal obesity, Prolong... ORPHA:631
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Gastr... ORPHA:2306
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Cry... OMIM:618316
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Large for gestation... OMIM:615398
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia... OMIM:620152
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Emanuel Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Recurrent respiratory infections, Intestinal malr... OMIM:609029
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma... ORPHA:143
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Ventricular septal defect, Hepatomegaly, Ectopic kidney, Cystic r... OMIM:613730
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Interrupted aortic arch, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fi... ORPHA:79259
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Tetralogy of Fallot, Renal insufficienc... OMIM:610205
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 15
Obesity, Nephronophthisis, Elevated circulating hepatic transaminase concentration OMIM:614845
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Failure to thrive, Recurrent urinary tract i... ORPHA:2970
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Protein-losing enteropa... OMIM:602579
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Failure to thrive, Abnor... OMIM:214110
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Situs inve... OMIM:613686
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Joubert Syndrome 5
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... OMIM:610188
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Jeune Syndrome
Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Short stature ORPHA:474
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis OMIM:617105
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... OMIM:616307
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Decrea... ORPHA:320
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r... OMIM:145001
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Nephrocalcinosis, Hyperphosphaturia, Elevated circulating alkaline phosphat... OMIM:156400
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal pericardium ... ORPHA:284
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... ORPHA:980
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hyp... ORPHA:2255
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Oculoskeletodental Syndrome
Short stature, Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Renal insufficiency, Failure to thrive ORPHA:28
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia/aplasia, Ventricular... ORPHA:1166
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid ... ORPHA:99880
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi... OMIM:616629
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Cryptorchidism, Patent foramen ovale OMIM:616789
Babesiosis
Hepatic failure, Renal insufficiency, Splenomegaly, Hepatomegaly, Jaundice ORPHA:108
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Alagille Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... OMIM:118450
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia, Elevated circulating alk... OMIM:613312
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Nephroblastoma, Umbilical hernia OMIM:618272
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:251290
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:614883
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Intra... ORPHA:552
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insuffi... OMIM:600740
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Preeclampsia/Eclampsia 1
Hypertension, Edema OMIM:189800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:275555
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Gastroesophageal reflux, Recurrent respiratory infections, Cr... ORPHA:96170
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Renal tubular ac... OMIM:614922
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Renal cyst, Atrial sep... OMIM:611134
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Hyperbili... OMIM:301068
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec... OMIM:619123
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatiti... ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... OMIM:617872
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Ventricular septal defect, Hepatom... OMIM:614876
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Bifid uvula, Occipital encephalocele, Anencephaly, Rena... OMIM:614175
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Renal insufficiency, Premature graying of hair OMIM:618681
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria ORPHA:2613
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Branchial cyst, Intrauterine growth retardation, Ventricular se... OMIM:615583
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin... ORPHA:416
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Subcutaneous calcification, Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the ur... ORPHA:2377
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... OMIM:232800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopa... ORPHA:369837
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... ORPHA:97362
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Elevated circulat... OMIM:616733
Zellweger Syndrome
Multicystic kidney dysplasia, Hepatic failure, Failure to thrive, Cryptorchidism, Ventricular sep... ORPHA:912
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Renal cyst, Meningocele, ... OMIM:603194
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Elevated circulating alkaline phosphata... OMIM:211900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Cholelithiasis, Chronic active hepatitis, Hypoparathyroidis... OMIM:240300
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Atrial septal defect, Short... OMIM:618005
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth OMIM:263630
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchi... OMIM:249270
Campomelia, Cumming Type
Polysplenia, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease OMIM:211890
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Occipit... OMIM:607361
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Medullary nephrocalcino... ORPHA:363528
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Short stature OMIM:300322
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overriding aorta, Double... ORPHA:3304
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Elevated circulating alka... ORPHA:30391
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Hepatome... OMIM:219800
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Protruding ... ORPHA:96147
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle, At... OMIM:179613
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio... OMIM:248250
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glome... ORPHA:251004
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran... ORPHA:228308
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele OMIM:614465
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Decreased methionine synthase activity... OMIM:250940
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Carpenter Syndrome 1
Polysplenia, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Transposition of the... OMIM:201000
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Reduced hepatic glyoxylate reductase activity, Hyperoxaluria, Renal insufficien... OMIM:260000
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec... ORPHA:18
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia OMIM:618067
Gaisböck Syndrome
Peptic ulcer, Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Plethora, ... ORPHA:90041
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Growth delay, Hypoproteinemia, Congenital nephrotic syndrome, Renal insufficienc... OMIM:256300
Meckel Syndrome, Type 5
Occipital encephalocele, Renal cyst, Anencephaly, Bile duct proliferation, Cleft palate OMIM:611561
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Growt... ORPHA:289916
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration OMIM:618548
Arterial Tortuosity Syndrome
Aortic valve stenosis, Bifid uvula, Ventricular hypertrophy, Aortic regurgitation, Aortic root an... OMIM:208050
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Joint hemorrhage, Hypot... ORPHA:99147
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Cat Eye Syndrome
Ventricular septal defect, Atrial septal defect, Rectal atresia, Anal atresia, Patent ductus arte... OMIM:115470
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Cardiomyopath... ORPHA:157
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Axial Osteomalacia
Renal cyst, Polycystic liver disease, Elevated circulating creatine kinase concentration OMIM:109130
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Intrauterine growth retardation, Disprop... OMIM:608022
Colonic Atresia
Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Cardiomyopathy, Premature graying of hair, Furrowed tongue, Intraut... ORPHA:769
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... ORPHA:261265
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:619644
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Short stature, Meningocele... ORPHA:2031
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/h... OMIM:601678
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Trisomy 8P
Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Tetralogy of Fallot,... ORPHA:264450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, Cleft palate, Pulm... OMIM:313850
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal obstructi... ORPHA:85450
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi... ORPHA:2137
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Nephronophthisis
Renal insufficiency ORPHA:655
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Abnormality of the ... ORPHA:449395
Familial Tumoral Calcinosis
Hepatomegaly, Erythema, Nephrocalcinosis, Splenomegaly ORPHA:53715
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Mosaic Trisomy 9
Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphology, Endocardial fibr... ORPHA:99776
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Branchial ... ORPHA:2260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Intrauterine g... OMIM:610199
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Growth delay, Severe short stature OMIM:262400
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts, Cleft palate ORPHA:66637
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Hypoplastic left... OMIM:617661
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Splenomegaly, Growth delay OMIM:616084
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, M... OMIM:193400
Relapsing Fever
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Failure to thrive, Decreased liver function, Secundum atrial septal defect, Elevate... OMIM:608779
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Hypoalbuminemia, Hypertrophic cardio... OMIM:617303
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Absence of the pulmonary valve, Congestive heart failure, Dec... OMIM:601808
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kidney, Abnormal... OMIM:301111
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Palp... ORPHA:2847
Kaposiform Lymphangiomatosis
Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymosis, Abnormal spleen morphology... ORPHA:464329
Familial Mediterranean Fever
Nephropathy, Erythema, Nephrocalcinosis, Oral leukoplakia, Acute hepatic failure, Splenomegaly, I... ORPHA:342
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Lymphopenia, Leukopenia... OMIM:617053
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Campomelia, Cumming Type
Multicystic kidney dysplasia, Prematurely aged appearance, Abnormal intestine morphology, Multipl... ORPHA:1318
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cardiomyopathy, Abnormal h... ORPHA:79327
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glome... OMIM:619487
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Say Syndrome
Short stature, Cleft palate, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Legionnaires Disease
Hepatitis, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hyponatremia, Pancreatitis,... ORPHA:549
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... ORPHA:2869