Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
polycystin 2, transient receptor potential cation channel
Synonyms:
PC2,  TRPP2,  polycystin-2,  C030034P18Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Pkd2 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 Pkd2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730

The table below shows human diseases predicted to be associated to Pkd2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Indomethacin Embryofetopathy
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Premature birth, Ab... ORPHA:1909
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... OMIM:620056
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... OMIM:618061
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Nephronophthisis 16
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip... OMIM:615382
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... OMIM:613095
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... ORPHA:730
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... OMIM:602114
Campomelia, Cumming Type
Polycystic liver disease, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia OMIM:211890
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... OMIM:619902
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... OMIM:616307
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P... OMIM:267010
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... ORPHA:2924
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma... OMIM:615415
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... ORPHA:446
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... OMIM:619462
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, H... OMIM:612284
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ... OMIM:618999
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... ORPHA:369
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria OMIM:176090
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... ORPHA:400
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis OMIM:610688
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... OMIM:208500
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... ORPHA:85445
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the k... ORPHA:1041
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Nephrosialidosis
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites OMIM:256150
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... OMIM:614859
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... ORPHA:30391
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... OMIM:603860
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to... ORPHA:890
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Senior-Loken Syndrome
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth... ORPHA:3156
Nuchal Bleb, Familial
Stillbirth, Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Renal Tubular Dysgenesis
Premature birth, Polyhydramnios, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts,... ORPHA:3033
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites, Hydrops fetalis ORPHA:295
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... OMIM:619433
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Dextrocardia OMIM:606217
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c... OMIM:145001
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... ORPHA:3032
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Multip... ORPHA:1318
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... ORPHA:84081
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly ORPHA:294
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Nemaline Myopathy 9
Breech presentation, Ventricular septal defect, Polyhydramnios, Fetal akinesia sequence OMIM:615731
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Thrombocyto... ORPHA:464329
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Laterality Defects, Autosomal Dominant
Asplenia, Heterotaxy, Situs inversus totalis OMIM:601086
Transaldolase Deficiency
Abnormality of the kidney, Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Hep... ORPHA:101028
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph... OMIM:616629
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Lethal Congenital Contracture Syndrome 6
Decreased fetal movement, Absence of stomach bubble on fetal sonography, Polyhydramnios OMIM:616248
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... ORPHA:2414
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... ORPHA:284
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... OMIM:619113
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Abdominal situs inversus, Tr... OMIM:614779
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th... ORPHA:480520
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Primary Effusion Lymphoma
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion ORPHA:48686
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... OMIM:617872
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Edema, Portal hypertension, Hydrops fetalis, Hepatosple... OMIM:232500
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hep... OMIM:602579
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Cholestatic liver dise... OMIM:619858
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal... ORPHA:163596
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Mi... OMIM:618815
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, Situs inversus totalis... OMIM:208530
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... OMIM:216360
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of the lungs, Abn... ORPHA:2204
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepat... OMIM:618329
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... ORPHA:100085
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:614679
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly OMIM:618955
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis... OMIM:615630
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... OMIM:231680
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal tri... ORPHA:3405
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Fetal Akinesia Syndrome, X-Linked
Stillbirth, Polyhydramnios, Fetal akinesia sequence OMIM:300073
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia OMIM:611884
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal distention, Constipation, Abdominal pain ORPHA:168829
Nephronophthisis 18
Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers... OMIM:615862
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Thr... ORPHA:2123
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... ORPHA:90308
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia OMIM:615993
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis OMIM:613861
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... OMIM:608836
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Laurence-Moon Syndrome
Renal insufficiency, Hypoplasia of penis, Congenital hepatic fibrosis, Cryptorchidism, Displaceme... ORPHA:2377
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Pericardial effusion, Anhydramnios, Polycystic kidney dys... OMIM:613885
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:615158
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... OMIM:615482
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo... OMIM:616749
Infantile Sialic Acid Storage Disease
Hepatomegaly, Premature birth, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops feta... OMIM:269920
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Congenital Pulmonary Airway Malformation
Premature birth, Polyhydramnios ORPHA:2444
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Polycystic kidney dysplasia, Hepatosplenomegaly OMIM:608776
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... ORPHA:567983
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ... OMIM:232200
Achondrogenesis, Type Ib
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Umbilical hernia OMIM:600972
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... OMIM:619386
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Renal cyst, Cholestasis... OMIM:261515
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Splenomegaly, Hype... OMIM:232220
Congenital Myopathy 11
Decreased fetal movement, Polyhydramnios, Breech presentation, Atrial septal defect, Patent foram... OMIM:619967
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Hydroce... OMIM:601927
Mosaic Trisomy 9
Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Sp... ORPHA:99776
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... ORPHA:275555
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hyposthenuria... OMIM:256100
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... OMIM:608540
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... OMIM:619003
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Polyhydramnios OMIM:215550
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Hypoglossia With Situs Inversus
Asplenia, Polysplenia, Situs inversus totalis OMIM:612776
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis, Polyhydramnios ORPHA:1450
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria ORPHA:67046
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom... OMIM:193300
Tyrosinemia, Type I
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic tran... OMIM:276700
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... ORPHA:244
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Polyhydramnios ORPHA:3469
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A... OMIM:614702
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Abdominal... OMIM:617205
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... OMIM:278000
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly ORPHA:466794
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... OMIM:617093
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Umbilical hernia, Nephropathy, Ascites ORPHA:87876
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:617577
Megabladder, Congenital
Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non... OMIM:618719
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... OMIM:607941
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Meckel Syndrome
Accessory spleen, Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic f... ORPHA:564
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Isomerism, Transposi... OMIM:314390
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... ORPHA:26791
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Heterotaxy, Visceral, 1, X-Linked
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... OMIM:306955
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice ORPHA:79238
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria OMIM:606824
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... ORPHA:110
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... ORPHA:94088
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi... OMIM:214110
Hyperbiliverdinemia
Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia... OMIM:614156
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... ORPHA:892
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Lethal Congenital Contracture Syndrome 2
Decreased fetal movement, Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopath... OMIM:607598
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... OMIM:266920
Bardet-Biedl Syndrome 18
Renal insufficiency, Stage 5 chronic kidney disease OMIM:615995
Lethal Congenital Contracture Syndrome 8
Neonatal death, Decreased fetal movement, Polyhydramnios OMIM:616287
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aciduria, Microvesicular hepa... OMIM:203700
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... OMIM:274150
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... OMIM:200995
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis ORPHA:289916
Multiple Intestinal Atresia
Polyhydramnios ORPHA:2300
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... OMIM:201475
Fetal Akinesia Deformation Sequence 4
Decreased fetal movement, Polyhydramnios, Cryptorchidism, Absence of stomach bubble on fetal sono... OMIM:618393
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... OMIM:253250
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Premature birth, Polyhydramnios, Fetal pericardia... OMIM:219730
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... OMIM:618641
Chondrodysplasia, Blomstrand Type
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth OMIM:215045
Tracheal Agenesis
Abnormal cardiac septum morphology, Polyhydramnios ORPHA:3346
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ... OMIM:265380
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Duodenal stenosis ORPHA:1759
Mirror Movements 3
Situs inversus totalis OMIM:616059
Dent Disease 2
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... OMIM:300555
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Ventricular septal defect, Premature birth, Polyhydramnios, Cryptorchidism, ... ORPHA:2256
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... ORPHA:234
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia OMIM:606763
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... ORPHA:35710
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d... OMIM:218330
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function ORPHA:79319
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Bardet-Biedl Syndrome 14
Renal insufficiency OMIM:615991
Orofaciodigital Syndrome I
Short stature, Proteinuria, Hamartoma of tongue, Pancreatic cysts, Vascular dilatation, Cleft pal... OMIM:311200
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis OMIM:606995
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... OMIM:613610
Symmetrical Thalamic Calcifications
Arrhythmia, Polyhydramnios ORPHA:1314
Cap Polyposis
Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation ORPHA:160148
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency ORPHA:254857
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... ORPHA:1046
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Dec... ORPHA:541423
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Mirizzi Syndrome
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb... ORPHA:521219
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Recurrent urinary tract infections, Renal insufficie... OMIM:619487
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... OMIM:261740
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Conjugated hyperbi... ORPHA:79303
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... OMIM:270100
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Fetal ascites, Polyhydramnios, Pericardial effusion, M... ORPHA:292
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Cardiac Valvular Dysplasia 1
Edema, Hydrops fetalis, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Pulm... OMIM:212093
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Renal... ORPHA:1692
Nephronophthisis 15
Elevated hepatic transaminase, Nephronophthisis OMIM:614845
Bardet-Biedl Syndrome 19
Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Hepatic steatosis, Hydronephrosis OMIM:615996
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Fetal Gaucher Disease
Hepatomegaly, Decreased fetal movement, Pancytopenia, Fetal akinesia sequence, Splenomegaly, Abno... ORPHA:85212
Tuberous Sclerosis Complex
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... ORPHA:805
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... OMIM:615444
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites OMIM:614091
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Polyhydramnios OMIM:300580
Pyloric Atresia
Polyhydramnios OMIM:265950
Noonan Syndrome 12
Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,... OMIM:618624
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Nonimmune hydrops fetalis, Pericardial effusion, Hypoplasia of the thymus, Endocardial fibroelast... OMIM:619313
Spinal Muscular Atrophy, Type I
Atrial septal defect, Decreased fetal movement, Ventricular septal defect OMIM:253300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... ORPHA:1414
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Nephropathy, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosi... OMIM:617056
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Cleft palate, Right aortic arch, Transposition of the great arteries, Do... OMIM:231060
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia ORPHA:35
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... OMIM:251880
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatitis ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 28
Decreased fetal movement, Congestive heart failure, Polyhydramnios OMIM:616794
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Fetal pericardial effusio... OMIM:617021
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Dextrocardia
Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormal lung lobation, Abnormal he... ORPHA:1666
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Achondrogenesis
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:932
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Premature birth, Cardiomegaly, Pericardial effusion, Anoma... ORPHA:555874
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... ORPHA:79234
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... OMIM:619377
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Hydrops fetalis, Nephr... ORPHA:834
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... OMIM:301045
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Hypospadias, Polyhydramnios, Large... OMIM:222470
Jeune Syndrome
Nephropathy, Renal insufficiency, Abnormality of the liver, Nephronophthisis ORPHA:474
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Autosomal Recessive Amelia
Cryptorchidism, Hypoplasia of penis, Abnormal cardiac septum morphology, Polyhydramnios ORPHA:1027
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney OMIM:613730
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting OMIM:619445
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Decreased fetal movement, Urinary incontinence, Polyhydramnios, Pericardial effusion, Multiple mu... OMIM:620070
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Paternal Uniparental Disomy Of Chromosome 5
Secundum atrial septal defect, Polyhydramnios, Renal duplication ORPHA:96190
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteriosus, Partial anomalous pu... OMIM:619657
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Seizures-Scoliosis-Macrocephaly Syndrome
Atrial septal defect, Cryptorchidism, Abnormality of the kidney, Polyhydramnios ORPHA:466926
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Nephrotic syndrome, Focal segm... OMIM:617303
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Micropenis... OMIM:616897
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Cryptorchidism, Micropenis OMIM:614684
Nemaline Myopathy 10
Decreased fetal movement, Premature birth, Polyhydramnios, Breech presentation, Neonatal death OMIM:616165
Joubert Syndrome 20
Renal cyst OMIM:614970
Developmental And Epileptic Encephalopathy 18
Atrial septal defect, Aortic regurgitation, Polyhydramnios, Oligohydramnios OMIM:615476
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Babesiosis
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Hepatic failure ORPHA:108
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function ORPHA:570422
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts OMIM:609180
Small Bowel Atresia
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Cystinuria
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... OMIM:220100
Nemaline Myopathy 8
Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence OMIM:615348
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Achondrogenesis Type 1B
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... OMIM:619525
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Periportal fibrosis,... ORPHA:79328
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Polyhydramnios OMIM:612138
Galactosemia I
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:230400
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Abnormal heart valve morphology, Proteinuria, ... ORPHA:36412
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Polyhydramnios, Fetal akinesia sequence OMIM:619602
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Pancreatitis, Hyperammonemia ORPHA:27
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios OMIM:619303
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias OMIM:245550
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Mu-Heavy Chain Disease
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly ORPHA:100024
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurg... OMIM:614866
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility... OMIM:613662
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Asplenia, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis,... OMIM:619123
Nephronophthisis
Renal insufficiency ORPHA:655
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly ORPHA:46532
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Hematuria, H... OMIM:185070
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614727
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Lethal Congenital Contracture Syndrome 7
Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence OMIM:616286
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Hydrocele testis, Single umbil... OMIM:620244
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Achondrogenesis Type 1A
Thickened nuchal skin fold, Umbilical hernia, Hydrops fetalis, Polyhydramnios ORPHA:93299
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... OMIM:608022
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Edema of the dorsum of feet, Ventricular septal defect, ... OMIM:274000
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Increased circulating ferritin concentratio... OMIM:618892
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ha... ORPHA:2750
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas... OMIM:613658
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Heterotaxy, Abnormal tricuspid valve morphology, Bacterial endocarditis, A... ORPHA:1330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Joubert Syndrome 18
Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia, Intra... OMIM:614815
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd... OMIM:256300
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Trisomy 1Q
Multicystic kidney dysplasia, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Increase... ORPHA:261344
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Increased urine succinate level, Elevated circulating aspartate aminotransferase co... OMIM:619048
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periportal fibrosis, Elevated hepatic tr... OMIM:619484
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Hepatosplenomegaly,... OMIM:606003
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akinesia sequence, Portal hyperten... ORPHA:367
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Primary Sclerosing Cholangitis
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega... ORPHA:171
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... ORPHA:1988
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... OMIM:609814
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... OMIM:613404
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Polyhydramnios, Endocardial fibroelastosis OMIM:600559
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Decreased fetal movement, Patent foramen ovale, Premature birth, Polyhydramnios OMIM:616867
Boomerang Dysplasia
Cryptorchidism, Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydra... ORPHA:1263
Noonan Syndrome 8
Ventricular septal defect, Polyhydramnios, Cryptorchidism, Hypertrophic cardiomyopathy, Mitral re... OMIM:615355
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Atrial septal defect, Nephrocalcinosis, Congestive heart failure, Polyhydramnios ORPHA:500533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts OMIM:617425
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ... OMIM:613845
Microvillus Inclusion Disease
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology ORPHA:2290
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Inte... OMIM:618280
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Abnormal aortic morphology... ORPHA:1166
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... OMIM:619644
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He... ORPHA:91138
Trisomy 13
Ventricular septal defect, Cryptorchidism, Abnormality of the ureter, Hydrops fetalis, Multiple r... ORPHA:3378
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Meckel Syndrome, Type 1
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p... OMIM:249000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Xanthinuria, Type Ii
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... OMIM:603592
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... ORPHA:84090
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Polyhydramnios, Large placenta, Abnormal heart morphology, Umbilical h... ORPHA:254534
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Ventricular septal defect, Pericardial effusion... ORPHA:26793
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Congenital hypertrophy of ... OMIM:239850
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... OMIM:130650
Visceral Myopathy 1
Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst OMIM:611773
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... OMIM:614922
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Tyshchenko Syndrome
Ventricular septal defect, Premature birth, Polyhydramnios, Supernumerary nipple, Cryptorchidism,... OMIM:615102
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hy... ORPHA:69735
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Hyperbilirubinemia, Shunt, Primary