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Gene: Invs MGI:1335082

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
inversin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Elevated circulating creatinine concen... OMIM:602088
Senior-Loken Syndrome
Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156

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
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Right Atrial Isomerism
Abdominal situs ambiguus, Right atrial isomerism, Situs inversus totalis, Single ventricle, Aorto... OMIM:208530
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Cholestasis, Hepatic fibrosis, Hepatomegaly, Pulmonic... OMIM:615415
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosi... OMIM:615382
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Right aortic arch, Situs inversus totalis, Bronchiectasis OMIM:617577
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Congenital malformation of the great arteries, Abnor... ORPHA:1666
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Hepatic fibrosis, Renal tubular atrophy, Renal corticom... OMIM:613550
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Hepatic fibrosis, Renal tubula... OMIM:604387
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperb... OMIM:613404
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Single ventricle, Ventricular septal defect, Mitra... OMIM:306955
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancrea... ORPHA:3032
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Meacham Syndrome
Pulmonary sequestration, Cryptorchidism, Anomalous pulmonary venous return, Atrial septal defect,... ORPHA:3097
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal lung lobation ORPHA:1705
Retinitis Pigmentosa 59
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrauterine grow... OMIM:613861
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal def... OMIM:208085
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Isomerism, Atrioventricular canal defect, Tracheoesophageal fistula, Transposition ... OMIM:314390
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Hyperuricemia, Renal tubular atrophy, Renal corticomedullary cyst... OMIM:603860
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Genitopalatocardiac Syndrome
Ventricular septal defect, Double outlet right ventricle, Cleft palate, Right aortic arch, Transp... OMIM:231060
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Intestinal malro... ORPHA:3426
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Patent ductus ... OMIM:267010
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Hepatic steatosis, Proximal tubulopathy, Generalized ami... OMIM:231680
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Obesity OMIM:615987
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Occipital meningocele, Hepatic ... OMIM:243910
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic... OMIM:614866
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Elevated circulating creatinine concen... OMIM:602088
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis,... OMIM:208540
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Interrupted aortic arch, Underdevelo... OMIM:192430
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of... OMIM:612474
Lambert Syndrome
Branchial anomaly, Ventricular septal defect, Failure to thrive in infancy, Cholestasis, Intraute... ORPHA:1296
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Renal cyst, Renal insufficiency, Abnormality of the kidney, Obesity OMIM:615993
Rhyns Syndrome
Nephronophthisis, Abnormality of the liver, Hypopituitarism, Multicystic kidney dysplasia ORPHA:140976
Senior-Loken Syndrome
Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimuation ... OMIM:220210
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Galactosemia Ii
Prolonged neonatal jaundice, Hypergalactosemia, Galactosuria OMIM:230200
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Obesity OMIM:605231
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Immunodeficiency, Common Variable, 6
Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepat... OMIM:613496
Fanconi-Bickel Syndrome
Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Elevate... ORPHA:2088
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Nephrocalcinosis, Obesity OMIM:615633
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Spleno... OMIM:230350
Granulomatous Slack Skin
Nephrocalcinosis, Hypercalcemia, Acute kidney injury, Erythema ORPHA:33111
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Distal renal tubular acidosis, Isothenuria, Hypokalemia, Failure to thrive, Short stature, Nephro... OMIM:611590
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Recurrent resp... OMIM:616037
Trichohepatoenteric Syndrome 1
Jaundice, Small for gestational age, Galactosuria, Hypoalbuminemia, Cirrhosis, Villous atrophy, H... OMIM:222470
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Failure to thrive, Nephrocalcinosis, Hyper... OMIM:239199
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal insufficiency, Renal interstitial inflammati... OMIM:619113
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body ... ORPHA:890
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hypertyrosinemia, Ren... OMIM:276700
Peroxisome Biogenesis Disorder 10B
Prolonged neonatal jaundice, Nephrocalcinosis, Neurogenic bladder OMIM:617370
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hyperalaninemia, Stage 5 chronic kidney disease, Failure to thrive, Hy... OMIM:618250
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Cholestasis, Renal tubular atrophy, Tub... OMIM:615862
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... OMIM:613807
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Abnorm... OMIM:601612
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Pulmonic stenosis, Aortic valve stenosis, Failure to thriv... OMIM:143880
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Dextrocardia, Situs inversus totalis, Hypertension OMIM:613095
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Ventricular septal defect OMIM:219730
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Microglossia, Asplenia, High palate OMIM:612776
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat... ORPHA:400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevat... OMIM:614817
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, M... ORPHA:730
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Increased serum pyruvate, Hyperalaninemia, Renal cortical cysts OMIM:617668
Galactose Epimerase Deficiency
Growth delay, Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Nephropathy, Cholestasis, Hepatic fibrosis, Hepatomegaly, Renal d... OMIM:266920
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, High palate, Tetralogy of Fallot, Tr... ORPHA:1913
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, P... ORPHA:3384
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Intestinal malrotation, Hepatomegaly, Dextrocardia, Duodenal... ORPHA:1759
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Aortic valve stenosis, Paroxysmal atrial fibrillation OMIM:615377
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge, Dextrocardia, Anal atresia, High pal... ORPHA:2863
C Syndrome
Cryptorchidism, Renal cortical cysts, Ventricular septal defect, Patent ductus arteriosus, Hepato... OMIM:211750
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Abnormal heart morphology, Nephropathy, ... ORPHA:85445
Dysmyelination With Jaundice
Cryptorchidism, Hydroureter, Jaundice, Hydronephrosis, Hypoplasia of penis OMIM:224250
Spondylocostal Dysostosis 4, Autosomal Recessive
Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus totalis OMIM:613686
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Hepatomegaly, Short stature, Large fo... OMIM:616026
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice, Hypospadias OMIM:245550
Jeune Syndrome
Nephronophthisis, Nephropathy, Short stature, Renal insufficiency, Abnormality of the liver ORPHA:474
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hyperphosphaturia, Infantile hypercalcemia, Hypercalciuria, Hypercalcemia, Prim... ORPHA:99879
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Paget Disease Of Bone 6
Elevated circulating alkaline phosphatase concentration, Nephrocalcinosis, Left ventricular hyper... OMIM:616833
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Distal renal tubular acidosis, Hypercalciuria, Hypokalemia, Failure to thrive, Neph... OMIM:602722
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Macroglossia, Albuminuria, Ventricular septal defect, High palate, Patent ductus ... OMIM:214100
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Bardet-Biedl Syndrome 4
Cryptorchidism, Renal cyst, Abnormality of the kidney, Obesity OMIM:615982
Polyvalvular Heart Disease Syndrome
Arrhythmia, Mitral valve prolapse, Abnormal heart valve morphology, Tricuspid regurgitation, Pulm... ORPHA:228410
Rotor Syndrome
Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Jaundice, Intermittent jaundice... ORPHA:3111
Harrod Syndrome
Cryptorchidism, Malrotation of small bowel, High palate, Pyloric stenosis, Aganglionic megacolon,... OMIM:601095
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Diabetic Embryopathy
Cryptorchidism, Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pancrea... ORPHA:1926
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Broad nasal tip, Overr... OMIM:601927
3C Syndrome
Atrial septal defect, Short nose, Abnormal tricuspid valve morphology, Ventricular septal defect,... ORPHA:7
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis, Atrial septal defect OMIM:611087
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Postnatal growth retardation, Abnormal renal corti... OMIM:616733
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage 5 chronic ki... OMIM:616629
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava draining t... ORPHA:185
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Hepatic steatosis, Growth delay, Cardiomyopathy, Renal cyst, Renal... ORPHA:445038
Beckwith-Wiedemann Syndrome
Cryptorchidism, Macroglossia, Renal cortical cysts, Enlarged kidney, Cardiomyopathy, Hepatomegaly... OMIM:130650
Nephronophthisis 15
Nephronophthisis, Hepatic failure, Obesity OMIM:614845
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Hypoplastic... ORPHA:1727
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Dextrocardia With Unusual Facies And Microphthalmia
Cleft palate, Dextrocardia, Prominent nose OMIM:221950
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Fanconi Anemia, Complementation Group O
Cryptorchidism, Abnormal heart morphology, Anal atresia, Hydronephrosis, Renal cyst, Stage 5 chro... OMIM:613390
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Renal cortical cysts, Hyperechogenic kidneys, Rhizomelic arm short... ORPHA:397715
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive, Atrial septal defect ORPHA:500533
Cardiac-Urogenital Syndrome
Cryptorchidism, Scimitar anomaly, Accessory spleen, Atrial septal defect, Ventricular septal defe... OMIM:618280
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic... OMIM:615630
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Vascular dilatation, Wide nasal bridge, Aortic valve stenosis, Depresse... OMIM:220220
Emanuel Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Gastroesopha... OMIM:609029
Mcdonough Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Furrowed tongue, Pulmonic stenos... OMIM:248950
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Polycystic li... OMIM:174050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Restrictive cardiomyopathy, High palate, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Ur... OMIM:615398
Mosaic Trisomy 1
Hepatic agenesis, Penile hypospadias, Renal cortical cysts, Ventricular septal defect, Renal cyst... ORPHA:1692
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Dysphagia, Wide nasal bridge, Patent foramen ovale, Hypoplastic spleen, Wid... ORPHA:89844
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Growth delay, Unilateral renal agenes... OMIM:216360
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Cryptorchidism, Atrial septal defect, Truncus arte... OMIM:601186
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Hepatomegaly, Abnormal... ORPHA:2924
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Stillbirth, Hypercalciuria, Phosphoe... OMIM:241500
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Abnormal localization of kidney, Prolonged neonatal... ORPHA:446
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Cutaneous photosensitivity, Increased urinary porphobilinog... OMIM:121300
Gaucher Disease, Type I
Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormal pul... OMIM:230800
Transposition Of The Great Arteries, Dextro-Looped 1
Transposition of the great arteries OMIM:608808
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Elevated hepatic transaminase, Steatorrhea, Hepatomegaly, Smal... OMIM:260400
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Thin anteverted nares, Abnormal aortic arch morphology, Gastr... ORPHA:2306
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity OMIM:615995
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Macroglossia, Bulbous nose, Patent foramen ovale, Transposition of the great arte... OMIM:616789
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619386
Dent Disease 1
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P... OMIM:300009
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Parathyroid Carcinoma
Hypophosphatemia, Parathyroid carcinoma, Infantile hypercalcemia, Weight loss, Hypercalciuria, Ab... ORPHA:143
Hardikar Syndrome
Elevated hepatic transaminase, Patent foramen ovale, Hydroureter, Ventricular septal defect, Grow... OMIM:612726
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Atrial flutter, Macroorchidism, Abnormal atrioventricular valve morphology, Tricusp... ORPHA:324410
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Ventricular septal defect, Nephropathy, M... ORPHA:1909
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Aortic root aneurysm OMIM:618496
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Cirrhosis, Familial
Micronodular cirrhosis, Esophageal varix, Jaundice, Increased level of propylene glycol in blood,... OMIM:215600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Narrow palate, Elevated hepatic transaminase, Dilated ... OMIM:608836
Nephronophthisis 14
Nephronophthisis, Situs inversus totalis, Polycystic kidney dysplasia OMIM:614844
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Abnormality of the kidney OMIM:613730
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability
Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal... ORPHA:564178
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Aminoaciduria, Elevated circulating long chain fatty a... OMIM:214110
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hyperphosphaturia, Severe short stature, Elevated circulating alkaline phosphat... OMIM:156400
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Eleva... ORPHA:275555
Alagille Syndrome 2
Atrial septal defect, Hematuria, Renal hypoplasia, Cholestasis, Renal tubular acidosis, Pulmonic ... OMIM:610205
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Horseshoe kidney, Elevated hepatic transaminase, Acute kidney injury, Renal agenesis, Hepatic ste... ORPHA:93111
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Interrupted aortic arch, V... OMIM:600001
8P23.1 Microdeletion Syndrome
Cryptorchidism, Short nose, Abnormal aortic morphology, Patent ductus arteriosus, Wide nasal brid... ORPHA:251071
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent duc... OMIM:618316
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Proximal tubulopathy... OMIM:300554
Familial Parathyroid Adenoma
Parathyroid hyperplasia, Parathyroid carcinoma, Renal insufficiency, Hypophosphatemia, Hyperphosp... ORPHA:99877
Galactosemia
Cryptorchidism, Cirrhosis, Elevated hepatic transaminase, Increased level of galactitol in plasma... ORPHA:352
Thomas Syndrome
Cleft palate, Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia ORPHA:3316
Apparent Mineralocorticoid Excess
Renal insufficiency, Hypokalemia, Decreased circulating renin level, Left ventricular hypertrophy... ORPHA:320
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polyuria, Recurrent urinary tract infections, H... OMIM:248250
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Papillary renal cell carcinoma, Recurrent pancreatiti... OMIM:145001
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:300991
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Hyperuricemia, Delayed puberty, Hyperlipidemia, Enlarged kidney, Polycystic... ORPHA:79259
Wolcott-Rallison Syndrome
Atrial septal defect, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Growth de... ORPHA:1667
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia, Short stature ORPHA:557003
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Infantile hypercalcemia, Hypercalcemia, Hypercalciuria, Abnormality of the para... ORPHA:99880
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short nose, Paroxysmal supraventricular tachycardia, Pulmonic stenosis, Perimembranous ventricula... OMIM:617877
Prune Belly Syndrome
Cryptorchidism, Atrial septal defect, Urogenital sinus anomaly, Hydroureter, Ventricular septal d... ORPHA:2970
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis, Postnatal growth retardation OMIM:179800
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Renal insufficiency ORPHA:108
Senior-Loken Syndrome 8
Hepatic cysts, Nephronophthisis, Pancreatic cysts OMIM:616307
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease
Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r... OMIM:146255
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Renal cyst, Chronic kidney diseas... OMIM:617056
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Atrial septal defect, Exocrine pancreatic insufficiency, Interrupted... ORPHA:2255
Mend Syndrome
High palate, Aortic valve stenosis, Prominent nasal bridge, Cryptorchidism OMIM:300960
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Situs inversus totalis, Abnormal heart morphology, Hepatic cysts, Abnor... ORPHA:1505
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Primary Parathyroid Hyperplasia
Parathyroid hyperplasia, Hypophosphatemia, Hypercalciuria, Peptic ulcer, Hypercalcemia, Primary h... ORPHA:99878
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232200
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Wide nose, Depressed nasal bridge OMIM:607016
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Hypophosphatemic rickets, Pulmonic stenosis, Short stature, Medullary nephroca... OMIM:613312
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Peptic ulcer, Hypercalcemia, Primary hyperparat... OMIM:600740
Zellweger Syndrome
Cryptorchidism, Ventricular septal defect, High palate, Pyloric stenosis, Multicystic kidney dysp... ORPHA:912
Alagille Syndrome 1
Hypercholesterolemia, Duplicated collecting system, Vesicoureteral reflux, Multiple small medulla... OMIM:118450
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Malabsorption, Chronic atrophic gastritis, Cholelithiasis, Female hypog... OMIM:240300
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Abnormal heart morphology OMIM:618300
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Vesicoureteral reflux, Short sta... ORPHA:1166
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmon... OMIM:179613
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic steno... ORPHA:3304
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Decre... OMIM:614922
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Hyperphosphaturia, Growth delay, Hypophosphatemic rickets, Elevated alkaline ph... ORPHA:157215
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive ORPHA:28
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Primary Hyperoxaluria
Acrocyanosis, Calcium oxalate nephrolithiasis, Hematuria, Elevated hepatic transaminase, Elevated... ORPHA:416
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Emanuel Syndrome
Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Dysphagia, G... ORPHA:96170
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Hypercalciuria, Subcutaneous calcification, Medullary nephrocalcinosis OMIM:617993
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Tetralogy of Fallot ORPHA:3033
Oligomeganephronia
Branchial cyst, Decreased numbers of nephrons, Secundum atrial septal defect, Elevated circulatin... ORPHA:2260
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Caroli Syndrome
Conjugated hyperbilirubinemia, Jaundice, Hypersplenism, Abnormality of the kidney, Cirrhosis, Int... ORPHA:480520
Marburg Hemorrhagic Fever
Hematuria, Elevated hepatic transaminase, Weight loss, Jaundice, Pancreatitis ORPHA:99826
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:608644
Arterial Tortuosity Syndrome
Hiatus hernia, Ventricular hypertrophy, Aortic tortuosity, Ischemic stroke, Aortic regurgitation,... OMIM:208050
Rhyns Syndrome
Nephronophthisis, Pituitary hypothyroidism, Chronic kidney disease, Short stature, Renal insuffic... OMIM:602152
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Dextrocardia, Cleft palate, Abnormal cardiac septum morphology, Macrocytic anemia OMIM:614294
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellula... OMIM:232220
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Cleft palate, Dextrocardia, Glos... OMIM:616145
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency, Short stature, Premature graying of hair OMIM:618681
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect, Hepatic cysts, Renal cyst OMIM:263630
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria ORPHA:2613
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Macroglossia, Short nose, Aortic regurgitation, Abnormal testis morphology, Abnor... ORPHA:96147
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Unilateral renal hypoplasia, Hydrocele testis, Hematuria, Acute kidney injury, Increased... ORPHA:49041
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Renal Cysts And Diabetes Syndrome
Abnormality of alkaline phosphatase level, Abnormality of the kidney, Abnormal renal morphology, ... OMIM:137920
Ververi-Brady Syndrome
Bulbous nose, Wide nose, Broad nasal tip, High palate, Transposition of the great arteries, Promi... OMIM:617982
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Atrial septal defect, Abnormal heart morphology, Congenital megaureter, Restrictive cardiomyopath... ORPHA:369837
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Hepatomegaly, Jaundice, Glossoptosis, Elevated circulating aspartate a... OMIM:614876
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Elevated hepatic transaminase, Decreased liver function, Renal cyst, Failur... OMIM:614883
Criss-Cross Heart
Ventricular septal defect, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosi... ORPHA:1461
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Short stature, Hypoplasia of penis, Renal insufficie... ORPHA:2377
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia, Short stature OMIM:211890
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Johanson-Blizzard Syndrome
Short nose, Underdeveloped nasal alae, Exocrine pancreatic insufficiency, Dextrocardia, Abnormali... ORPHA:2315
Renal Tubular Acidosis Iii
Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia OMIM:267200
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Failure to thrive, Pancreatitis, Renal insufficiency, Hyperammonemia,... ORPHA:79312
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, High palate, Hepatomegaly, Jaundice, Petechiae, Decreased liver fu... OMIM:251290
African Iron Overload
Peritonitis, Micronodular cirrhosis, Abnormal heart morphology, Viral hepatitis, Hepatic steatosi... ORPHA:139507
Maternally-Inherited Diabetes And Deafness
Proteinuria, Abnormal circulating lipid concentration, Glomerulopathy, Renal insufficiency, Malab... ORPHA:225
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Neonatal death, Renal cyst OMIM:228940
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia,... OMIM:619123
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly, Short stature... ORPHA:172
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Short stature, Failure to thrive, Intrauterine growth retardation, High palate, Abnormal cardiac ... OMIM:618005
Rabson-Mendenhall Syndrome
Macroglossia, Atrial septal defect, Long penis, Premature graying of hair, Ventricular septal def... ORPHA:769
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Baraitser-Winter Syndrome 1
Cryptorchidism, Short nose, Patent ductus arteriosus, Wide nasal bridge, Aortic valve stenosis, B... OMIM:243310
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Mody
Overweight, Exocrine pancreatic insufficiency, Hepatocellular adenoma, Elevated hemoglobin A1c, A... ORPHA:552
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Endocardial fibroelastosis, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Nephrotic Syndrome, Type 1
Hypoproteinemia, Growth delay, Glomerular sclerosis, Pyloric stenosis, Renal tubular atrophy, Sma... OMIM:256300
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Enlarged kidney, Membranoproliferative glomerulonephritis, Obesity... ORPHA:251004
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Distal Renal Tubular Acidosis
Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal potassium wasting, Pro... ORPHA:18
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic colon, Hypoplasia of the small ... OMIM:200995
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Umbilical hernia, Cholestasis, Hepatic fibrosis, Hepatomegaly, H... OMIM:610199
Carpenter Syndrome 1
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Polysplenia, Patent ductus arter... OMIM:201000
Mosaic Trisomy 9
Cryptorchidism, Atrial septal defect, Bulbous nose, Ventricular septal defect, Abnormal heart val... ORPHA:99776
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Hypercalcemia, Abnormality of the liver OMIM:240150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Laryngotracheomalacia, Aortic valve stenosis, Laryngeal web, Hypoplastic le... OMIM:617660
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff... OMIM:254900
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Polycystic liver disease, Renal cyst OMIM:109130
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Abnormal liver lo... OMIM:608022
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Aplasia/Hypoplasia of the gallbladder, Hydronephrosis... ORPHA:264450
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Abnormal pulmonary artery morphology, Dextrocardia, Pulmonary hypo... ORPHA:2257
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Intracranial hemorrhage, Emphysema, Mitral r... ORPHA:363618
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Aminoaciduria ORPHA:33574
Congenital Disorder Of Glycosylation, Type Il
Pericardial effusion, Hepatomegaly, Polycystic kidney dysplasia, Failure to thrive, Abnormal card... OMIM:608776
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Splenomegaly, Erythema ORPHA:53715
Thakker-Donnai Syndrome
Bulbous nose, Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tetralogy of Fallot,... ORPHA:1780
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Weill-Marchesani Syndrome
Mitral regurgitation, Pulmonic stenosis, Aortic valve stenosis, Ventricular septal defect ORPHA:3449
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Pericarditis, Urinary bladde... ORPHA:449395
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Meningocele, Glossoptosis, Congenital hepatic fibrosis, Renal cyst,... ORPHA:2031
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis OMIM:615542
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cryptorchidism, Atrial septal defect, Situs inversus totalis, Arrhythmia, Ventricular septal defe... OMIM:249270
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Verheij Syndrome
Renal hypoplasia, Growth delay, Renal cyst, Short stature, Renal agenesis, Abnormal cardiac septu... OMIM:615583
Isolated Biliary Atresia
Atretic gallbladder, Conjugated hyperbilirubinemia, Jaundice, Decreased liver function, Small for... ORPHA:30391
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Meningocele, Renal cyst, Cleft palate, Intrauter... OMIM:611134
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyposthenuria, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell... OMIM:601678
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Elevated hepatic transaminase, Abnormal heart morphology, Growth delay, Eleva... OMIM:608779
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Chronic bronchitis OMIM:615451
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal spleen mo... ORPHA:464329
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Cleft palate OMIM:147770
Microvillus Inclusion Disease
Abnormal renal physiology, Abnormality of small intestinal villus morphology, Nephrocalcinosis, V... ORPHA:2290
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Primary Hyperoxaluria Type 3
Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi... ORPHA:93600
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Macroves... OMIM:617303
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Decrea... OMIM:601808
Acrorenal Syndrome
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia, Cleft palate ORPHA:971
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Growth delay, Hepatomegaly, Pancreatitis, Renal insufficiency, Renal tubular dysf... ORPHA:289916
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Absent ou... OMIM:613193
Meckel Syndrome, Type 2
Meningocele, Renal cyst, Cleft palate, Intrauterine growth retardation, Bile duct proliferation OMIM:603194
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Familial Mediterranean Fever
Peritonitis, Oral leukoplakia, Pericarditis, Acute hepatic failure, Orchitis, Nephropathy, Erythe... ORPHA:342
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Cryptorchidism, Wide nasal bridge, Pulmonic stenosis, Aortic valve stenosis, Testicular torsion ORPHA:75496
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Cleft palate, Transposition of th... OMIM:313850
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro... OMIM:248190
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Ureteral agenesis OMIM:236500
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Renal Hypoplasia
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... ORPHA:93101
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Galactosemia Iv
Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated hepatic transaminase, Patent ductus arteriosus, Cholelithiasis, Wi... OMIM:614886
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Growth delay, Aminoaciduria, Splenomegaly, Nephrocalcinosis, Cardiomyopathy OMIM:616084
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Weiss-Kruszka Syndrome
Short nose, Anteverted nares, Ventricular septal defect, Left ventricular hypertrophy, Bicuspid a... OMIM:618619
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Pulmonary insufficiency, Absent outer dynein arms, Chroni... OMIM:614017
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Elevated circulating alkaline phosphatase concentration, Vesicoureteral reflux, Renal cortical cysts OMIM:618548
Primary Hyperoxaluria Type 2
Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep... ORPHA:93599
Ciliary Dyskinesia, Primary, 9
Recurrent sinusitis, Situs inversus totalis, Pneumonia, Bronchiectasis OMIM:612444
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Hydroureter, Renal sarcoma, Mult... OMIM:143400
Autoimmune Hepatitis
Acute hepatitis, Inflammation of the large intestine, Cirrhosis, Spider hemangioma, Increased tot... ORPHA:2137
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Rhizomelia, Patent ductus arteriosus, Chronic kidney disease, Hypoplastic left ... OMIM:617661
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Campomelia, Cumming Type
Prematurely aged appearance, Multiple renal cysts, Pancreatic cysts, Multicystic kidney dysplasia... ORPHA:1318
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Neonatal... OMIM:618892
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Hepatic cysts, Polycystic kidney dysplasia, Colonic diverticula, Renal ins... OMIM:173900
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Rhizomelia, High palate, Failure to thrive in infancy, Postnatal growth retardati... OMIM:611209
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Renal cyst, Hydronephrosis, Elevated circulating creatine kinase concentration, ... OMIM:615287
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Megarectum, Decreased body weight, Postnatal growt... ORPHA:508
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Hypomagnesemia, Dilated cardiomyopathy, Pericardial effusion, Hypocalcemic tetany, ... ORPHA:73224
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne... OMIM:260000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Growt... ORPHA:567548
17Q12 Microdeletion Syndrome
Cryptorchidism, Elevated hepatic transaminase, Pancreatic aplasia, Multicystic kidney dysplasia, ... ORPHA:261265
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency, Cardiomyopathy ORPHA:254857
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Si... OMIM:615505
Say Syndrome
Cleft palate, Proximal renal tubular acidosis, Short stature, Cystic renal dysplasia OMIM:181180
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Micropenis, Cleft palate OMIM:614175
Legionnaires Disease
Hematuria, Pericarditis, Endocarditis, Hyponatremia, Jaundice, Hepatitis, Pancreatitis, Splenomeg... ORPHA:549
Primary Sclerosing Cholangitis
Weight loss, Jaundice, Palmar telangiectasia, Hypoalbuminemia, Renal insufficiency, Dilated super... ORPHA:171
Nephronophthisis
Renal insufficiency ORPHA:655
Joubert Syndrome 5
Nephronophthisis, Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kid... OMIM:610188
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Meckel diverticulum, Partial diaphragmatic absence of pericardium, Morph... ORPHA:2847
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Elevated alkaline phosphatase of ... OMIM:616828
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Atrial septal defect, High palate, Patent ductus arteriosus, Intrauterine growth ... ORPHA:363528
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormal localization of kidney, An... ORPHA:1834
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Simpson-Golabi-Behmel Syndrome, Type 2
Multicystic kidney dysplasia, Cleft palate, High palate, Micropenis, Obesity OMIM:300209
Aapoaiv Amyloidosis
Cardiac amyloidosis, Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular... ORPHA:439232
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Cryptorchidism, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Atrioventricular can... OMIM:618929
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Nephrocalcinosis, Decreased renal tubular phosphate excretion, Hyperphosphatemia, Inc... OMIM:211900
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Choanal atresia, Esophageal atresia, Coarc... ORPHA:1923
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Glomerulopathy With Fibronectin Deposits 2
Generalized distal tubular acidosis, Glomerulopathy, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Stillbirth, Growth delay, Hyperbilirubinemia, Hepatomegaly, Absence of renal cortic... OMIM:259720
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Multiple renal cysts, Neoplasm of the rectum, Enlarged polycystic ovaries... ORPHA:2869
Congenital Hypothyroidism
Macroglossia, Goiter, Anterior hypopituitarism, Abnormal pericardium morphology, Umbilical hernia... ORPHA:442
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Hepatomegaly, Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia ORPHA:2123
Birt-Hogg-Dube Syndrome
Renal neoplasm, Renal cell carcinoma, Large intestinal polyposis, Renal cyst, Colon cancer OMIM:135150
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria OMIM:232800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Unilateral renal agenesis, Testicular seminoma, Shor... ORPHA:281090
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Transketolase Deficiency
Atrial septal defect, Proportionate short stature, Abnormal heart morphology, Ventricular septal ... ORPHA:488618
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Von Willebrand Disease, Type 1
Joint hemorrhage, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Epistaxis, Aortic... OMIM:193400
Drug-Induced Lupus Erythematosus
Hematuria, Pericarditis, Increased blood urea nitrogen, Pericardial effusion, Petechiae, Elevated... ORPHA:231111
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Renpenning Syndrome
Decreased testicular size, Growth delay, Severe short stature, Anal atresia, Cachexia, Cleft pala... ORPHA:3242
Marden-Walker Syndrome
Cryptorchidism, Zollinger-Ellison syndrome, Dextrocardia, Pulmonary hypoplasia, Cleft palate, Hig... OMIM:248700
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atr... OMIM:156810
Ciliary Dyskinesia, Primary, 35
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Chronic sinusitis, Recurrent respiratory... OMIM:617092
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Asplenia, Chronic ... OMIM:244400
Joubert Syndrome 7
Nephronophthisis, Renal cyst OMIM:611560
Methylmalonic Acidemia With Homocystinuria Type Cblf
Glossitis, Reduced number of intrahepatic bile ducts, Abnormal heart morphology, Growth delay, Un... ORPHA:79284
Nephrosialidosis
Renal insufficiency, Pericardial effusion, Nephropathy, Nephrotic syndrome OMIM:256150
Tetralogy Of Fallot
Cryptorchidism, Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Hypophosphatemic Rickets
Parathyroid hyperplasia, Hypophosphatemia, Renal phosphate wasting, Disproportionate short statur... ORPHA:437
Acquired Von Willebrand Syndrome
Hypochromic anemia, Joint hemorrhage, Gastrointestinal hemorrhage, Aortic regurgitation, Intracra... ORPHA:99147
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Biliary hyperplasia, Gly... OMIM:210550
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High palate, Glomerulonephritis, Renal insufficiency, High, narrow palate OMIM:248760
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Abnormal subcutaneous fat tissue distribution, ... OMIM:212065
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Intimal thickening in the coronary arteries, Aortic valve stenosis, Recurrent upper... OMIM:253010
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect,... ORPHA:477817
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Pseudoxanthoma Elasticum
Mitral valve prolapse, Abnormal endocardium morphology, Restrictive cardiomyopathy, Telangiectasi... ORPHA:758
Klippel-Trénaunay Syndrome
Atrial septal defect, Gastrointestinal hemorrhage, Microcytic anemia, Abnormal tricuspid valve mo... ORPHA:90308
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Poland Syndrome
Dextrocardia OMIM:173800
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Trisomy 17P
Macroglossia, Patent ductus arteriosus, Aortic valve stenosis, Hypoplastic left heart, Cleft pala... ORPHA:261290
Jacobsen Syndrome
Cryptorchidism, Short nose, Ventricular septal defect, Intestinal malrotation, Wide nasal bridge,... ORPHA:2308
Mirage Syndrome
Cryptorchidism, Intracranial hemorrhage, Lymphopenia, Gastroesophageal reflux, Patent ductus arte... OMIM:617053
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Elevate... ORPHA:91547
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Increased circulating ferritin concentration, Elevated hepatic transam... ORPHA:540