banner
Genes Phenotypes Help, News, Blog

Gene: Invs MGI:1335082

Log in to follow

Gene Summary

Name:
inversin
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Download thumbnail Download
MicroCT E18.5

Embryo reconstruction

2 Images

View 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Short stature, Congenital hepatic fibrosis, Stage 5 chr... 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
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Lipedema
Edema OMIM:614103
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cholestasis, Situs inversus totalis, Pulm... OMIM:615415
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Pulmonic stenosis, Cholestasis, Situs inversus totali... OMIM:615382
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Right aortic arch, Bronchiectasis OMIM:617577
Dextrocardia
Congenital malformation of the great arteries, Intestinal malrotation, Abnormality of the spleen,... ORPHA:1666
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Senior-Boichis Syndrome
Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepatic bile duct... ORPHA:84081
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... OMIM:613751
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, High palate, Anomalous pulmonary venous return, Atrial septal defe... OMIM:619657
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba... OMIM:613159
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... OMIM:613550
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... OMIM:604387
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Intestinal malrotation, Multicystic kidney dysplasia, Abnormal... ORPHA:3032
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Reduced r... OMIM:208085
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Jau... OMIM:613404
Retinitis Pigmentosa 59
Failure to thrive, Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, ... OMIM:613861
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... OMIM:300555
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Atrioventricular canal defect, Tracheoesophageal fistula, Isomerism, Transposition ... OMIM:314390
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, C... OMIM:267010
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Ventricular septal defect, Transposition of the grea... OMIM:231060
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Elevated circulating glutaric aci... OMIM:231680
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Obesity, Renal insufficiency OMIM:615987
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Ventricula... OMIM:306955
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Growth delay, Ren... OMIM:606966
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Cleft palate, Heterota... ORPHA:3426
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Peroxisome Biogenesis Disorder 5A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Cleft palate, Splenomegaly, Hep... OMIM:614866
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Atrial r... OMIM:270100
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Congenital Tracheomalacia
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... ORPHA:95430
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Short stature, Renal cortical hyperechogenicity, ... OMIM:611555
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Short stature, Hyposthenuria, Glycosuria,... OMIM:308990
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Obesity OMIM:615993
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph... OMIM:602114
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Lambert Syndrome
Intrauterine growth retardation, Intrahepatic biliary atresia, Hypospadias, Cholestasis, Ventricu... ORPHA:1296
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Velopharyngeal insufficiency, Cleft palate, Double aorti... OMIM:192430
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Galactosemia Ii
Hypergalactosemia, Galactosuria, Prolonged neonatal jaundice OMIM:230200
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... OMIM:616963
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Galactosemia Iii
Failure to thrive, Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomega... OMIM:230350
Blue Diaper Syndrome
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, Hy... ORPHA:94086
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... OMIM:620010
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Hyperalaninemia, Hypertrophic cardiomyopathy, Stage 5 chronic kidney disease, ... OMIM:618250
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Cryptorchidism, Nephrocalcinosis OMIM:615633
Fanconi-Bickel Syndrome
Failure to thrive, Growth delay, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Elevated... ORPHA:2088
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Incr... ORPHA:890
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:614377
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Renal cyst, Hepatomegaly OMIM:614870
Granulomatous Slack Skin
Erythema, Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Hypokalemia, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis,... OMIM:611590
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Cholestasis, Abnormality of the pancreas, Hypermethioninemia, Abno... OMIM:222470
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Stea... ORPHA:79303
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... OMIM:239199
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Patent ductus arteriosus, Transposition of the great... OMIM:612474
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder, Prolonged neonatal jaundice OMIM:617370
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Anal atresia, Aortic valve stenosis, Atrial septal defect, Hypopla... OMIM:220210
Hypercalcemia, Infantile, 1
Nephrolithiasis, Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Polyuria, Hypercalc... OMIM:143880
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Mpdu1-Cdg
Abnormal enzyme/coenzyme activity, Elevated circulating creatine kinase concentration, Renal cort... ORPHA:79323
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
16P13.11 Microduplication Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... ORPHA:261243
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... ORPHA:2924
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration OMIM:211000
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Renal corticomedullary cysts, Renal insufficiency OMIM:219730
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Poly... OMIM:613807
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Urti... ORPHA:400
Hypoglossia With Situs Inversus
High palate, Situs inversus totalis, Microglossia, Polysplenia, Asplenia OMIM:612776
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Atrial Fibrillation, Familial, 13
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis OMIM:615377
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Hyperalaninemia, Increased serum pyruvate, Renal cortical cysts OMIM:617668
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia, Unilateral vertebral artery hypoplasia OMIM:613686
Galactose Epimerase Deficiency
Hepatomegaly, Aminoaciduria, Splenomegaly, Growth delay, Weight loss, Jaundice ORPHA:79238
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Malabsorption, Abnormality of the kidne... ORPHA:85445
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Dextrocardia, Duodenal stenosis, Abnormal tricuspid valve m... ORPHA:1759
Coach Syndrome 1
Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, Unilateral renal agenesis, Spl... OMIM:216360
C Syndrome
High palate, Failure to thrive, Renal cortical cysts, Hepatomegaly, Short stature, Ventricular se... OMIM:211750
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alph... OMIM:613095
Cog7-Cdg
Failure to thrive, Hepatomegaly, Small for gestational age, Excessive wrinkled skin, Abnormality ... ORPHA:79333
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Lambert Syndrome
Hypospadias, Jaundice, Intrahepatic biliary atresia OMIM:245550
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Stroke, Restricti... ORPHA:85451
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentr... OMIM:616026
Rhyns Syndrome
Abnormality of the liver, Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis ORPHA:140976
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Increased total bilirubin, Renal cyst, Elevated circulating alkaline ph... OMIM:174050
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Dysmyelination With Jaundice
Hypoplasia of penis, Hydroureter, Hydronephrosis, Cryptorchidism, Jaundice OMIM:224250
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Bilateral lung agenesis, Patent ductus arteriosus, Coarctatio... OMIM:601612
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Primary hyperparathyroidism, Hype... ORPHA:99879
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Short stature, Congenital hepatic fibrosis, Stage 5 chr... ORPHA:3156
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Obesity, Cryptorchidism OMIM:615982
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... OMIM:616833
Rotor Syndrome
Jaundice, Hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Conjugated hyperbilirubinemia, B... ORPHA:3111
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Growth delay, Neph... OMIM:602722
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Nephrocalcinosis, Hypocalcemic seizures OMIM:146200
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Grow... ORPHA:445038
Harrod Syndrome
High palate, Failure to thrive, High, narrow palate, Hypospadias, Malrotation of small bowel, Pyl... OMIM:601095
Tyrosinemia, Type I
Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Hypertyrosinemia, Splenomegal... OMIM:276700
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... ORPHA:1455
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyp... OMIM:130650
Diabetic Embryopathy
Cleft palate, Abnormality of the pancreas, Tetralogy of Fallot, Ventricular septal defect, Abnorm... ORPHA:1926
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Failure to thrive, Nephrocalcinosis, Atrial septal defect ORPHA:500533
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis, Atrial septal defect OMIM:611087
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Peroxisome Biogenesis Disorder 1A (Zellweger)
High palate, Failure to thrive, Hepatomegaly, Aminoaciduria, High, narrow palate, Macroglossia, E... OMIM:214100
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Failure to thrive, Renal cortical cysts, Supernumerary nipple, Rhizomelic leg shortening, Short s... ORPHA:397715
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Anterior hypopituitarism, Dextrocardia, Patent ductus arteriosus, Cryp... ORPHA:2863
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Polyvalvular Heart Disease Syndrome
High palate, Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitra... ORPHA:228410
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia, Cor pulmonale, Aortic valve stenosis OMIM:247610
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition ... ORPHA:1913
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Fanconi Anemia, Complementation Group O
Anal atresia, Short stature, Neonatal death, Renal cyst, Hydronephrosis, Cryptorchidism, Rectal a... OMIM:613390
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615444
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
High palate, Restrictive cardiomyopathy, Ureteral stenosis, Hypercalciuria, Large for gestational... OMIM:615398
3C Syndrome
Ectopic anus, Abnormal mitral valve morphology, Anal atresia, Atrial septal defect, Aortic valve ... ORPHA:7
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Emanuel Syndrome
High palate, Anal atresia, Aortic valve stenosis, Atrial septal defect, Cleft palate, Gastroesoph... OMIM:609029
Craniofaciofrontodigital Syndrome
Stroke, Anomalous branches of internal carotid artery, Ventricular septal defect, Pyloric stenosi... ORPHA:363705
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... ORPHA:446
Mosaic Trisomy 1
Renal cortical cysts, Cleft palate, Micropenis, Penile hypospadias, Hepatic agenesis, Renal cyst,... ORPHA:1692
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Conotruncal Heart Malformations
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... OMIM:217095
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Hypophosphatasia, Infantile
Failure to thrive, Stillbirth, Disproportionate short-limb short stature, Elevated plasma pyropho... OMIM:241500
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Aortic root aneurysm, Ventricular ... ORPHA:3400
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy... ORPHA:1909
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Small for gestat... OMIM:260400
Hypocalcemia, Autosomal Dominant 1
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... OMIM:601198
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Abnormal pulmonary inter... OMIM:230800
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Elevated circulating creatine kinase concentration, Elevated circula... OMIM:619386
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism OMIM:613730
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... OMIM:619868
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic valve stenosis, Aortic root aneurysm, Atrial septal defect OMIM:618496
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Hypospadias, Elevated hepatic tra... OMIM:301045
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis OMIM:614473
Parathyroid Carcinoma
Nephrolithiasis, Abnormality of the parathyroid morphology, Hypophosphatemia, Pancreatitis, Parat... ORPHA:143
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate, Hypoplastic left heart ORPHA:3316
Renal Tubular Acidosis, Distal, 1
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... OMIM:179800
Dent Disease 1
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... OMIM:300009
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Gastroesopha... ORPHA:2306
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
High palate, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarge... OMIM:608836
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... ORPHA:564178
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Cleft palate, Tetralogy of Fallot, Ventricular septal defect, Transpositi... ORPHA:1727
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Furrow... OMIM:248950
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Duodenal atresia, Primum atrial septal defect, Intestinal ... OMIM:619608
Jeune Syndrome
Nephronophthisis, Short stature, Nephropathy, Renal insufficiency, Abnormality of the liver ORPHA:474
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Aplasia/Hypoplasia of the pancreas, Renal agenesis, Hypospadias, Abnormality of endocrine pancrea... ORPHA:93111
Preeclampsia
Chronic kidney disease, Abnormality of the hepatic vasculature, Small for gestational age, Abnorm... ORPHA:275555
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Ascending aortic dissection, Aortic rupture, Aortic aneurysm OMIM:613780
Alagille Syndrome 2
Cholestatic liver disease, Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hemat... OMIM:610205
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... ORPHA:79259
Galactosemia
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatic failure, Cirrhosis, I... ORPHA:352
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hypophosphatemia, Severe short stature, Elevated circulating alkaline phospha... OMIM:156400
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Wolcott-Rallison Syndrome
Double outlet right ventricle, Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatom... ORPHA:1667
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, Fat malabsorp... ORPHA:731
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Renal cyst, Villous atr... OMIM:602579
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Peroxisome Biogenesis Disorder 2A (Zellweger)
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Aminoaciduria, Cleft palate, El... OMIM:214110
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresi... OMIM:618316
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:616307
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Colon perforation, Pulmonic stenosis, Total ab... OMIM:600001
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Failure to thrive, Atrial septal defect, Intestinal atres... ORPHA:2970
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... OMIM:300554
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... OMIM:145001
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Overriding aorta, Vasc... OMIM:601927
Apparent Mineralocorticoid Excess
Failure to thrive, Intrauterine growth retardation, Hypokalemia, Short stature, Left ventricular ... ORPHA:320
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Stage 5 c... OMIM:616629
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Aortic valve stenosis OMIM:615599
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... OMIM:618164
Hypomagnesemia 3, Renal
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Failure to thrive, Renal tubular ... OMIM:248250
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrolithiasis, Abnormality of the parathyroid morphology, Hypophosphatemia, Pancreatitis, Parat... ORPHA:99880
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice ORPHA:60
Oculocerebrodental Syndrome
Hypocalcemia, Nephrocalcinosis, Hypercalcemia, Short stature ORPHA:557003
Meckel Syndrome, Type 10
Cleft palate, Micropenis, Hypospadias, Anencephaly, Malformation of the hepatic ductal plate, Bif... OMIM:614175
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Dandy-Walker Malformation With Postaxial Polydactyly
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation OMIM:220220
Alveolar Echinococcosis
Abnormality of bladder morphology, Decreased liver function, Abnormal pericardium morphology, Abn... ORPHA:284
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Focal segmental glomerulosclerosis, Renal cys... OMIM:617056
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, ... OMIM:208500
Joubert Syndrome 5
Impaired renal concentrating ability, Renal cortical cysts, Reduced renal corticomedullary differ... OMIM:610188
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Transposition of the great arteries, Cryptorchidism, Patent foramen ovale, Macroglossia OMIM:616789
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Partial ... OMIM:617478
Alport Syndrome 3, Autosomal Dominant
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Short stature,... OMIM:613312
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Proxi... OMIM:146255
Renal Tubular Dysgenesis
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy ORPHA:3033
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cleft palate, Short stature, Multiple renal cysts, Tetralogy of Fallot,... ORPHA:1166
Babesiosis
Hepatomegaly, Hepatic failure, Splenomegaly, Renal insufficiency, Jaundice ORPHA:108
Hydroxykynureninuria
Jaundice, Aminoaciduria OMIM:236800
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... OMIM:132900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Atrial septal defect, Anterior pi... ORPHA:2255
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Nephronophthisis 15
Obesity, Nephronophthisis, Hepatic failure OMIM:614845
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... ORPHA:229
Arterial Tortuosity Syndrome
High palate, Telangiectases of the cheeks, Aortic valve stenosis, Hiatus hernia, Generalized arte... OMIM:208050
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Gastroesophageal reflux, Stroke, Arrhythmia, Ventricu... OMIM:249270
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Short stature, Hepatic fail... OMIM:615630
Hypocalciuric Hypercalcemia, Familial, Type Iii
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... OMIM:600740
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Hepatic failure, Reduced number of intrahepatic bile ducts, Ch... OMIM:118450
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive, Jaundice OMIM:129850
Weill-Marchesani Syndrome
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis, Mitral regurgitation ORPHA:3449
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Ventric... OMIM:301068
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Macroorchidism, Mitral regurgitation, Mitral valv... ORPHA:324410
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Decreased liver function, Multiple renal cysts, Elevated hepatic transaminase,... OMIM:614883
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Subcutaneous calcification, Hypercalciuria OMIM:617993
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Hypoplastic left heart, Cryptorchidism, Atrioven... ORPHA:251071
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:608644
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
Cardiofacioneurodevelopmental Syndrome
Cleft palate, Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventric... OMIM:619123
Emanuel Syndrome
High palate, Anal atresia, Ectopic anus, Aortic valve stenosis, Atrial septal defect, Cleft palat... ORPHA:96170
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Nephrolithiasis, Growth delay, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Hyperph... ORPHA:157215
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Biliary tract abnormality, Pancreatic hypoplasia, ... OMIM:137920
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Ventri... OMIM:614876
Primary Hyperoxaluria Type 1
Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... ORPHA:93598
Primary Hyperoxaluria
Failure to thrive, Chronic kidney disease, Acrocyanosis, Calcium oxalate nephrolithiasis, Cutis m... ORPHA:416
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Meckel Syndrome, Type 4
Atrial septal defect, Cleft palate, Anencephaly, Ventricular septal defect, Renal cyst, Meningoce... OMIM:611134
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... ORPHA:480520
Lessel-Kubisch Syndrome
Premature graying of hair, Renal hypoplasia, Renal insufficiency, Short stature OMIM:618681
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Weill-Marchesani Syndrome 3
Pulmonic stenosis, Aortic valve stenosis OMIM:614819
Developmental And Epileptic Encephalopathy 102
Situs inversus totalis, Gastroesophageal reflux, Atrial septal defect, Hepatomegaly OMIM:619881
Igg4-Related Retroperitoneal Fibrosis
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Zellweger Syndrome
High palate, Failure to thrive, Malabsorption, Hepatomegaly, Short stature, Hepatic failure, Hypo... ORPHA:912
Lymphatic Malformation 2
Lymphedema OMIM:611944
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Atrophic gastritis, ... OMIM:240300
Nail-Patella-Like Renal Disease
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria ORPHA:2613
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Left ventricular hypertrophy, Renal dysplasia, Abnormal renal corticom... OMIM:616733
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Atrial septal defect, High, narrow palate, Congenital megaureter, Restrictive... ORPHA:369837
Mody
Intrauterine growth retardation, Exocrine pancreatic insufficiency, Abnormal C-peptide level, Abn... ORPHA:552
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Laurence-Moon Syndrome
Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Renal insufficiency, Displacemen... ORPHA:2377
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Aortic Aneurysm, Familial Thoracic 8
Ascending aortic dissection, Abdominal aortic aneurysm, Coronary artery aneurysm, Coronary artery... OMIM:615436
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Cleft palate, Pulmonary artery hypoplasia, Anomalous origin of lef... ORPHA:2326
Cardiac-Urogenital Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Tachycardia, Hepatopulmonary fusion, Unilateral ... OMIM:618280
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormali... ORPHA:234
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Pseudo-Torch Syndrome 1
High palate, Failure to thrive, Decreased liver function, Petechiae, Hepatomegaly, Splenomegaly, ... OMIM:251290
Criss-Cross Heart
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... ORPHA:1461
Short Rib-Polydactyly Syndrome
Cleft palate, Intestinal malrotation, Hepatic cysts, Situs inversus totalis, Hepatic fibrosis, Tr... ORPHA:1505
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Elevated circulating creatini... OMIM:274150
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Anencephaly, Renal cyst, Meningocele, Bile duct proliferati... OMIM:603194
Catel-Manzke Syndrome
High palate, Cleft palate, Glossoptosis, Coarctation of aorta, Ventricular septal defect, Dextroc... OMIM:616145
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Short stature, Macroscopic hematuria, Membranoproliferative glomer... ORPHA:251004
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of... ORPHA:3304
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
High palate, Failure to thrive, Intrauterine growth retardation, Abnormal cardiac septum morpholo... OMIM:618005
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Hepatic cysts, Ventricular septal defect, Renal cyst, Stillbirth OMIM:263630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal dysplasia, Ren... OMIM:615287
Intellectual Disability-Strabismus Syndrome
High palate, Failure to thrive, Atrial septal defect, Decreased response to growth hormone stimul... ORPHA:363528
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hepatomegaly, Pancreatitis, Splenomegaly, Hyperammonemia, Renal insufficiency,... ORPHA:79312
Campomelia, Cumming Type
Short stature, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Renal Tubular Acidosis Iii
Nephrolithiasis, Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis OMIM:267200
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... OMIM:607361
Maternally-Inherited Diabetes And Deafness
Malabsorption, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency, Glomer... ORPHA:225
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Ventricular septal defect, Renal cyst, Renal hypoplasia, Truncus arteriosus OMIM:228940
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Choles... ORPHA:172
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... OMIM:611788
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
Cholangiocarcinoma
Acholic stools, Biliary tract neoplasm, Jaundice ORPHA:70567
Mend Syndrome
High palate, Cryptorchidism, Aortic valve stenosis OMIM:300960
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... OMIM:617156
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Dextrocardia, Pulmonary hypoplasia, Pneumothorax, Ab... ORPHA:2257
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Whim Syndrome 2
Chronic neutropenia, Tetralogy of Fallot OMIM:619407
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pulmonic stenosis, Transposition of the great arteries, Paroxysmal supraventricular ... OMIM:617877
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Familial Mediterranean Fever
Malabsorption, Nephrotic syndrome, Pancreatitis, Orchitis, Splenomegaly, Acute hepatic failure, P... ORPHA:342
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Vent... OMIM:179613
Storm Syndrome
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... OMIM:185069
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... OMIM:200995
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Rabson-Mendenhall Syndrome
High palate, Intrauterine growth retardation, Reduced subcutaneous adipose tissue, Hypokalemia, A... ORPHA:769
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Atrial septal defect, Vascular ring OMIM:603387
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele OMIM:614465
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly... OMIM:236500
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Meckel Syndrome, Type 5
Cleft palate, Anencephaly, Renal cyst, Bile duct proliferation, Occipital encephalocele OMIM:611561
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... OMIM:256300
Cystinosis, Nephropathic
Exocrine pancreatic insufficiency, Hepatomegaly, Glycosuria, Hematuria, Proteinuria, Weight loss,... OMIM:219800
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Isolated Biliary Atresia
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Fat malabsorp... ORPHA:30391
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Axial Osteomalacia
Polycystic liver disease, Renal cyst, Elevated circulating creatine kinase concentration OMIM:109130
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Distal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Growth delay, Hypokalemia, Aminoaciduria, Decreased glomerula... ORPHA:18
Diaphanospondylodysostosis
Cleft palate, Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidne... OMIM:608022
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Aortic root aneurysm, Secundum atrial septal defect, Transpositi... OMIM:619910
Colonic Atresia
Abdominal situs inversus, Peptic ulcer, Colonic atresia, Duodenal stenosis, Abnormality of mesent... ORPHA:1198
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Bartter Syndrome, Type 1, Antenatal
Hyperprostaglandinuria, Failure to thrive, Hypomagnesemia, Hypokalemia, Increased urinary potassi... OMIM:601678
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Trisomy 8P
Annular pancreas, Cleft palate, Micropenis, Malrotation of small bowel, Bifid uvula, Tetralogy of... ORPHA:264450
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Abnormal cardiac septum morphology, Hepatomegaly, Hepatosplenomegaly, Polycyst... OMIM:608776
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Short stature, Focal segmental glomerulosclerosis, Proteinu... OMIM:618176
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Situs inversus totalis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis OMIM:615451
Carpenter Syndrome 1
High palate, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal def... OMIM:201000
Hypervitaminosis A, Susceptibility To
Hypercalcemia, Renal insufficiency, Abnormality of the liver OMIM:240150
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Horseshoe kidney, Um... OMIM:115470
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macroglossia, A... OMIM:617303
Mirror Movements 3
Situs inversus totalis OMIM:616059
Microvillus Inclusion Disease
Villous atrophy, Nephrocalcinosis, Abnormality of small intestinal villus morphology, Abnormal re... ORPHA:2290
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Hypochromic anemia, Pulmonic stenosis, Mitral re... ORPHA:99147
Familial Tumoral Calcinosis
Erythema, Nephrocalcinosis, Hepatomegaly, Splenomegaly ORPHA:53715
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Cryptorchidism, Tetralogy of Fallot OMIM:615542
Combined Oxidative Phosphorylation Deficiency 55
High palate, Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Stage 3 chronic kidney d... OMIM:619743
Gaisböck Syndrome
Hyperproteinemia, Plethora, Increased circulating renin level, Cholecystitis, Hypernatriuria, Hyp... ORPHA:90041
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Glossoptosis, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cys... ORPHA:2031
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Renal cyst, Polycy... OMIM:610199
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Prolonged neonatal jaundice OMIM:262400
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Mosaic Trisomy 9
High palate, Atrial septal defect, Cleft palate, Abnormal liver lobulation, Intestinal malrotatio... ORPHA:99776
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Elevated circulating C-reactive protein conc... OMIM:619644
Verheij Syndrome
Abnormal cardiac septum morphology, Short stature, Renal agenesis, Renal cyst, Renal hypoplasia, ... OMIM:615583
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Right aortic arch, Patent ductus arteriosus, Cleft palate OMIM:147770
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Reduced carnitin... ORPHA:228308
Congenital Disorder Of Glycosylation, Type Iie
Failure to thrive, Intrauterine growth retardation, Decreased liver function, Hepatomegaly, Splen... OMIM:608779
Johanson-Blizzard Syndrome
Abnormal cardiac septum morphology, Exocrine pancreatic insufficiency, Anal atresia, Malabsorptio... ORPHA:2315
Galactosemia Iv
Hypergalactosemia, Prolonged neonatal jaundice OMIM:618881
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Jaundice, Aminoaciduria ORPHA:33574
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Failure to thrive, Secundum atrial septal defect, Unilateral renal age... OMIM:156810
Oligomeganephronia
Secundum atrial septal defect, Renal tubular atrophy, Decreased glomerular filtration rate, Small... ORPHA:2260
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Splenomegaly, Growth delay, Nephrocalcinosis, Cardiomyopathy OMIM:616084
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Proximal Renal Tubular Acidosis
Nephrolithiasis, Failure to thrive, Malabsorption, Hypokalemia, Growth delay, Aminoaciduria, Mild... ORPHA:47159
Hypoplastic Left Heart Syndrome
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Mitral atresia, Patent ductus arte... ORPHA:2248
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Cleft palate, Micropenis, Multicystic kidney dysplasia, Obesity OMIM:300209
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Hyperammonemia, Renal insufficiency, Growt... ORPHA:289916
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Hypoplastic left heart, Short stature, Unilateral renal agenesis, Rhizome... OMIM:617661
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Weight loss, Int... OMIM:619487
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Congenital Disorder Of Glycosylation, Type Iig
High palate, Cleft palate, Hypospadias, Left ventricular hypertrophy, Rhizomelia, Renal insuffici... OMIM:611209
Kaposiform Lymphangiomatosis
Bruising susceptibility, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Multiple r... ORPHA:464329
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Vesicoureteral reflux, Renal cortical cysts, Elevated circulating alkaline phosphatase concentration OMIM:618548
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Gast... OMIM:193400
Renal Hypoplasia
Chronic kidney disease, Small for gestational age, Abnormal renal tubule morphology, Unilateral r... ORPHA:93101
Harderoporphyria
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... OMIM:618892
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Glycogen Storage Disease Vii
Cholelithiasis, Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice OMIM:232800
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Acrorenal Syndrome
Cleft palate, Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Thoracoabdominal Syndrome
Cleft palate, Ectopia cordis, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of th... OMIM:313850
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Morphologi... ORPHA:2847
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hepatic ... ORPHA:73224
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... OMIM:248190
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate, Short stature OMIM:181180
46,Xy Sex Reversal 4
High palate, Anal atresia, Increased blood urea nitrogen, Cleft palate, Renal dysplasia, Ureterop... OMIM:154230
Nephronophthisis
Renal insufficiency ORPHA:655
Bartter Syndrome Type 4
Hyperprostaglandinuria, Chronic kidney disease, Impaired renal concentrating ability, Failure to ... ORPHA:89938
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating alkaline phospha... OMIM:619534
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Ureterocele, Short stature, Multicystic kidney dysplasia, Pancreatic ap... ORPHA:261265
Primary Hyperoxaluria Type 2
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... ORPHA:93599
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Campomelia, Cumming Type
Prematurely aged appearance, Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Multiple r... ORPHA:1318
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Patent ductus arteriosus, Renal insufficiency, Hypercalcemia ORPHA:2123
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, St... ORPHA:2869
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... ORPHA:567548
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, ... ORPHA:231111
Baraitser-Winter Syndrome 1
Patent ductus arteriosus, Bicuspid aortic valve, Aortic valve stenosis, Cryptorchidism OMIM:243310
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior ureth