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:
polycystin-2,  C030034P18Rik,  TRPP2,  PC2

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
Hepatic cysts, Elevated circulating creatinine concentration, Recurrent urinary tract infections,... OMIM:613095
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... 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
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Pate... OMIM:208540
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephronophthisis 7
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease OMIM:611498
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Renal hypoplasia, Hepatic cysts, Pancreatic cysts, Stage 5 ch... OMIM:614377
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cyst... OMIM:263200
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventric... ORPHA:1909
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia, Abdominal pain OMIM:600989
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Multicystic kidney dysplasia, Hepatic fibrosis, Hepatom... OMIM:607361
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Recurrent urinary tract infections,... OMIM:613095
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Patent ductus arteriosus, Cholestasis, Hepatic fibrosis, Polyc... OMIM:615382
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Senior-Loken Syndrome 5
Nephronophthisis, Stage 5 chronic kidney disease OMIM:609254
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Abdominal colic, Diarrhea, Abdominal distention ORPHA:35122
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Polycystic kidney dysplasia, Short stature OMIM:211890
Senior-Loken Syndrome 8
Nephronophthisis, Pancreatic cysts, Vascular dilatation, Hepatic cysts OMIM:616307
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Intestinal malrotation, Dextrocardia, Double ou... OMIM:605376
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts OMIM:173900
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Enlarged kidney, Cystic renal dysplasia, ... OMIM:615415
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney disease, Hepati... OMIM:618061
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Polycystic liver disease, Hepatomegaly, Abnormal... ORPHA:2924
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Patent ductus arteriosus, Multicystic kidney dysplasia, Chol... OMIM:267010
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Meckel Syndrome, Type 6
Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease OMIM:612284
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Retinitis Pigmentosa 59
Cryptorchidism, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Abnormal localization of kidney, Prolonged neonatal... ORPHA:446
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney disease OMIM:610688
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Nephrotic syndrome, Hepat... OMIM:618999
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Conjugated hyperbilirubinemia, Pancreatic fibrosis, H... OMIM:208500
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria OMIM:176090
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Cholestasis, Hepatomegaly, ... ORPHA:85445
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Hepatic cysts, Abnormality of th... ORPHA:400
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Elevated hepatic transaminase, Increased blood urea nitrogen, Elevat... OMIM:614817
Isolated Biliary Atresia
Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Periportal fibr... ORPHA:30391
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Nephronophthisis 18
Nephronophthisis, Cholestasis, Renal tubular atrophy, Portal fibrosis, Tubulointerstitial nephrit... OMIM:615862
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Hepatic cysts, Stage 5 chronic kidney disease OMIM:613819
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Nephrosialidosis
Pericardial effusion, Nephropathy, Ascites, Nephrotic syndrome, Renal insufficiency OMIM:256150
Senior-Loken Syndrome
Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney dis... ORPHA:3156
Nuchal Bleb, Familial
Stillbirth, Hydrops fetalis, Fetal cystic hygroma OMIM:257350
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Increased placental thickness, Abnormal heart morphology, Lymphedema,... ORPHA:1041
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst OMIM:603194
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Colonic Atresia
Abdominal distention OMIM:303650
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Congenital Pancreatic Cyst
Vomiting, Anorexia, Abdominal distention, Abdominal pain ORPHA:313906
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Hyperparathyroidism, Papillary renal cell carcinoma, Recurrent pancreatiti... OMIM:145001
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Renal ... ORPHA:890
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Dextrocardia, Atrioventricular canal defect OMIM:606217
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Hepatic... OMIM:604387
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage 5 chronic ki... OMIM:616629
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Renal Tubular Dysgenesis
Polyhydramnios, Multiple renal cysts, Oligohydramnios, Proximal tubulopathy, Renotubular dysgenes... ORPHA:3033
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hyperam... OMIM:271500
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hyperalaninemia, Elevated hepatic transaminase OMIM:614582
Kaposiform Lymphangiomatosis
Multiple renal cysts, Abnormal lung morphology, Epidural hemorrhage, Enlarged kidney, Pancreatic ... ORPHA:464329
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Campomelia, Cumming Type
Multiple renal cysts, Pancreatic cysts, Multicystic kidney dysplasia, Hepatomegaly, Abnormality o... ORPHA:1318
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Nephropathy, Cholestasis, Hepatic fibrosis, Renal dysplasia, Hepatomegaly, Rena... OMIM:266920
Transaldolase Deficiency
Cirrhosis, Atrial septal defect, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Edem... ORPHA:101028
Medullary cystic kidney disease 2
Multiple renal cysts, Enuresis, Renal tubular atrophy, Renal corticomedullary cysts, Tubulointers... OMIM:603860
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Meckel Syndrome, Type 5
Bile duct proliferation, Abnormality of the urinary system OMIM:611561
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Oligohydramnios, Enlarged kidney, Pulmonary insufficien... OMIM:602088
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Micronodular cirrhosis, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Hepatome... OMIM:203700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancreas, Abnormal biliary trac... ORPHA:3032
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Decreased liver function, Renal cyst OMIM:614870
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Hepatomegaly, Left bundle branch block, A... OMIM:115197
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst OMIM:611134
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Proteinuria OMIM:614034
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Preeclampsia, Hepatomegaly, Conge... ORPHA:163596
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic sinusitis, Abnormal respiratory mot... OMIM:614679
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Cryptorchidism, Hydrops fetalis, Fetal akinesia sequence, Bradycardia, Dilated cardiomyopathy, Hy... OMIM:618815
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:266900
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion, Abnormality of the peritoneum ORPHA:48686
Tyrosinemia, Type I
Cirrhosis, Elevated hepatic transaminase, Enlarged kidney, Hypertyrosinemia, Hepatocellular carci... OMIM:276700
Hypervitaminosis A, Susceptibility To
Renal insufficiency, Ascites, Hypercalcemia, Abnormality of the liver OMIM:240150
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Lethal Congenital Contracture Syndrome 6
Polyhydramnios, Decreased fetal movement OMIM:616248
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria OMIM:105200
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Hydrops fetalis, Maternal diabetes, Arrhythmia, Paroxysmal supraventri... ORPHA:45452
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Hepatomegaly, Pulmonic stenosis, Cong... ORPHA:2414
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Conjugated hyperbilirubinemia... ORPHA:480520
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly, Elevated circulating creatine kina... OMIM:232400
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of the urinary system, Hepatomegaly, Aplasia/Hypopla... ORPHA:2204
Galactosemia Iii
Aminoaciduria, Hypergalactosemia, Hepatomegaly, Jaundice, Galactosuria, Splenomegaly OMIM:230350
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Chronic kidney disease, Hepatic fa... OMIM:615630
Glycogen Storage Disease Iv
Polyhydramnios, Cirrhosis, Hydrops fetalis, Tubulointerstitial fibrosis, Decreased fetal movement... OMIM:232500
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proximal tubulopathy, Hepatic... OMIM:231680
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Elevated hepatic transaminase, Abnormal abdomen morphology, Portal h... OMIM:216360
Rhyns Syndrome
Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia ORPHA:140976
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:139507
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Absent inner and outer dynein arms, Dextrocardia, Chronic... OMIM:618063
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Hepatic fibrosis, Cirrhosis, Cholestasis OMIM:609313
Right Atrial Isomerism
Abdominal situs ambiguus, Right atrial isomerism, Single ventricle, Situs inversus totalis, Ventr... OMIM:208530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Hyperammonemia, Decreased plasma total carnitine, Elevated hepatic tra... OMIM:608836
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anem... OMIM:613673
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Atrioventricular canal ... ORPHA:210122
Nephronophthisis 11
Nephronophthisis, Polyuria, Renal tubular atrophy, Hepatic fibrosis, Renal corticomedullary cysts... OMIM:613550
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Diffuse Neonatal Hemangiomatosis
Polyhydramnios, Renal insufficiency, Hydrops fetalis, Patent ductus arteriosus, Hepatomegaly, Thr... ORPHA:2123
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Nasal polyposis, Recurrent resp... OMIM:616037
Primary Peritoneal Carcinoma
Nausea and vomiting, Constipation, Abdominal distention, Abdominal pain ORPHA:168829
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Hematuria, Gastrointestinal hemorrhage, Abnormal tricuspid... ORPHA:90308
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli... ORPHA:157
Laurence-Moon Syndrome
Cryptorchidism, Congenital hepatic fibrosis, Hypoplasia of penis, Renal insufficiency, Displaceme... ORPHA:2377
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy OMIM:611771
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... OMIM:606966
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, ... ORPHA:3405
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Conjugated hyperbilirubinemia, Chole... ORPHA:567983
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hyperammonemia, Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal ... ORPHA:228308
Achondrogenesis, Type Ib
Polyhydramnios, Hydrops fetalis, Stillbirth, Umbilical hernia, Edema, Breech presentation OMIM:600972
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Vacuolated lymphocytes, Hepatomegaly, Splenomegaly, Premature birth, Ascites, Co... OMIM:269920
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase... OMIM:619386
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ventricular septal defect OMIM:613751
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pheochromocytoma, Pancreatic cysts, Renal cell carcinoma, Neoplasm of the p... OMIM:193300
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellula... OMIM:232200
Lcat Deficiency
Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:650
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Hepatomegaly, Splenom... ORPHA:882
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Respiratory tract infection, Situs inversus t... ORPHA:244
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Congenital Disorder Of Glycosylation, Type Ik
Abnormality of the amniotic fluid, Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiom... OMIM:608540
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Abnormality of the kidney, Cystic renal dysplasia OMIM:613730
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Hepatic failure, Nephrotic syndrome ORPHA:60
Mosaic Trisomy 9
Polyhydramnios, Cryptorchidism, Hydrops fetalis, Bulbous nose, Patent ductus arteriosus, Dextroca... ORPHA:99776
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Constipation, Enterocolitis, Abdominal distention OMIM:142623
Congenital Pulmonary Airway Malformation
Polyhydramnios, Premature birth ORPHA:2444
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Ascites, Hepatosplenomegaly, Polycystic kidney dysplasia OMIM:608776
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Increased circulating very long-chain fatty acid concentration, He... OMIM:261515
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatic cysts, Intrahepatic cholestasis with episodic jaundice, Ne... ORPHA:100085
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Xk Aprosencephaly Syndrome
Polyhydramnios, Atrial septal defect, Ventricular septal defect ORPHA:3469
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Hydroureter, Tricuspid regurgitation, Urethral diverticulum, ... OMIM:212093
Ring Chromosome 8 Syndrome
Polyhydramnios, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hypoglossia With Situs Inversus
Polysplenia, Asplenia, Situs inversus totalis OMIM:612776
Adams-Oliver Syndrome 6
Renal hypoplasia, Portal hypertension, Hepatic fibrosis OMIM:616589
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellula... OMIM:232220
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... OMIM:256100
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hypoalbuminemia, Hepatic failure OMIM:602579
Nephronophthisis 15
Nephronophthisis, Hepatic failure OMIM:614845
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Abnormal tricuspid valve morphology, Mitral atresia... OMIM:616749
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate, Prominent nose OMIM:221950
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Bronchiectasis OMIM:617577
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Elevated hepatic transaminase, Eleva... ORPHA:275555
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Nonimmune hydrops fetalis... OMIM:619003
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Splenomegaly ORPHA:79238
Peroxisome Biogenesis Disorder 1B
Cirrhosis, Hyperoxaluria, Hepatic fibrosis, Hepatomegaly, Renal cyst OMIM:601539
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Splenomegaly, Premature birth, Hepatomegaly OMIM:618541
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Hyperechogenic kidneys, Vent... OMIM:618719
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Lethal Congenital Contracture Syndrome 2
Polyhydramnios, Ventricular septal defect, Decreased fetal movement, Edema, Hydronephrosis, Dilat... OMIM:607598
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Polysplenia, Biliary cirrhosis, Hyperbilirubinemia, Patent ductus ... OMIM:613610
Orofaciodigital Syndrome I
Ovarian cyst, Tongue nodules, Hepatic cysts, Pancreatic cysts, Vascular dilatation, Hepatic fibro... OMIM:311200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio... OMIM:611555
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia, Polycystic ovaries ORPHA:280356
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Polyhydramnios, Cryptorchidism, Abnormality of mesentery morphology, Ventricular septal defect, R... ORPHA:2256
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatocel... ORPHA:370
Mulibrey Nanism
Hydrops fetalis, Myocardial fibrosis, Hypoplastic frontal sinuses, Wide nasal bridge, Hepatomegal... OMIM:253250
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Hypoperistalsis, Nephrolithiasis, Fetal pyelectas... OMIM:619365
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated hepatic transaminase, Abnormality of iron ... ORPHA:79230
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Biliary hyperplasia, Gly... OMIM:210550
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Tracheal Agenesis
Polyhydramnios, Abnormal cardiac septum morphology ORPHA:3346
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Spinal Muscular Atrophy, Type I
Decreased fetal movement, Atrial septal defect, Ventricular septal defect OMIM:253300
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Premature birth, Stillbirth OMIM:215045
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Dubin-Johnson Syndrome
Abnormal urinary color, Conjugated hyperbilirubinemia, Biliary tract abnormality, Hepatomegaly, J... ORPHA:234
Glucose/Galactose Malabsorption
Chronic diarrhea, Abdominal distention, Glycosuria, Hyperactive bowel sounds OMIM:606824
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Enlarged kidney, Polysplenia, Pancreatic fibrosis, Hepatic fibrosis, Hepa... OMIM:200995
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Rft1-Cdg
Hepatomegaly ORPHA:244310
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al... OMIM:300555
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Postnatal growth ... OMIM:617093
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Elevated hepatic transaminase, Glutaric aciduria, 3-M... ORPHA:26791
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Intrahep... OMIM:214110
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease OMIM:606996
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Sialidosis Type 2
Hydrops fetalis, Pedal edema, Umbilical hernia, Nephropathy, Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent... OMIM:274150
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Multiple Intestinal Atresia
Polyhydramnios ORPHA:2300
Bardet-Biedl Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hepatic fibrosis, Nephrotic syndrome, Hypoplasia of... ORPHA:110
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Fetal Gaucher Disease
Hydrops fetalis, Stillbirth, Fetal akinesia sequence, Intracranial hemorrhage, Hepatomegaly, Panc... ORPHA:85212
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly OMIM:618495
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria ORPHA:67046
Meckel Syndrome
Urethral atresia, Cryptorchidism, Accessory spleen, Situs inversus totalis, Oligohydramnios, Panc... ORPHA:564
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Alagille Syndrome 2
Hematuria, Renal hypoplasia, Cholestasis, Renal tubular acidosis, Renal cyst, Cholestatic liver d... OMIM:610205
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Hepatomegaly, Pancreatitis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Duplicated collecting system, Cholestasis, Hepa... ORPHA:541423
Glucose-Galactose Malabsorption
Malnutrition, Hematuria, Hyperactive bowel sounds, Nephrolithiasis, Diarrhea, Vomiting, Renal ins... ORPHA:35710
Adiposis Dolorosa
Constipation, Abdominal distention OMIM:103200
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Neuraminidase Deficiency
Bone-marrow foam cells, Hydrops fetalis, Vacuolated lymphocytes, Facial edema, Hepatomegaly, Urin... OMIM:256550
Joubert Syndrome 4
Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology OMIM:609583
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, A... OMIM:601927
Von Hippel-Lindau Disease
Palpitations, Multiple renal cysts, Arrhythmia, Pancreatic cysts, Polycythemia, Cardiomyopathy, A... ORPHA:892
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Fatal liver failure in infancy ORPHA:254857
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Congenital Disorder Of Glycosylation, Type Iir
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Jaundice,... OMIM:301045
Systemic Primary Carnitine Deficiency
Hepatomegaly, Elevated hepatic transaminase ORPHA:158
Arima Syndrome
Nephronophthisis, Tubulointerstitial fibrosis, Hepatic steatosis, Renal tubular atrophy, Hepatic ... OMIM:243910
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death, Hydrops fetalis OMIM:276822
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Dextrocardia, Intestinal malrotation, Abnormal tricuspid valve morphology ORPHA:1759
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Pyloric Atresia
Polyhydramnios OMIM:265950
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Dark urine, Hyper... ORPHA:521219
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Decreased fetal movement OMIM:617194
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Autosomal Recessive Amelia
Polyhydramnios, Cryptorchidism, Abnormal cardiac septum morphology, Hypoplasia of penis ORPHA:1027
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Polyhydramnios OMIM:300580
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Palpebral edema, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepa... OMIM:614866
Volvulus Of Midgut
Constipation, Abdominal distention, Neonatal intestinal obstruction OMIM:193250
Mpi-Cdg
Congenital hepatic fibrosis, Hepatic failure ORPHA:79319
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Malnutrition, Abdominal pain, Constipation, Abdominal distention, Gastrointestinal dysmotility OMIM:613662
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatocellular adenoma, Hepatic s... ORPHA:264580
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Horseshoe kidney, Type I truncus arteriosus, Cystic renal dysplasia, Secundum atr... OMIM:156810
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia ORPHA:35
Short Rib-Polydactyly Syndrome
Nephronophthisis, Disproportionate short-limb short stature, Urogenital sinus anomaly, Hepatic cy... ORPHA:1505
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Cryptorchidism, Atrial septal defect, Abnormality of the kidney ORPHA:466926
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Oligohydramnios, Abnormality of the ureter, Hypospadias, Ascites, Splenomegaly, R... ORPHA:1046
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Diarrhea, Abdominal distention ORPHA:160148
Cholestasis-Lymphedema Syndrome
Abnormality of urine homeostasis, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract ab... ORPHA:1414
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Hypotension, Pleural effusion, Pericardial effusion, Fetal distr... ORPHA:292
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Decreased fetal movement, Congestive heart failure OMIM:616794
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:615297
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Thickened nuchal skin fold ORPHA:932
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Renal hypoplasia, Hepatic fibrosis, Renal cyst, Polycystic kidney dysplasia, Ascites, Hypospadias OMIM:614091
Vesicoureteral Reflux 3
Polyhydramnios, Vesicoureteral reflux, Hydronephrosis, Hydroureter OMIM:613674
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Mosaic Trisomy 1
Hepatic agenesis, Polyhydramnios, Penile hypospadias, Renal cortical cysts, Ventricular septal de... ORPHA:1692
Cranioectodermal Dysplasia 1
Hypocalcemia, Hepatic cysts, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatome... OMIM:218330
Alpha-Thalassemia
Hydrops fetalis, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Sp... ORPHA:846
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholestasis, Decreased... OMIM:613658
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Abnormality of the liver, Nephropathy ORPHA:474
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney disease OMIM:606995
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Hepatic steatosis, Renal tubular acidosis, Renal dysplasia, Hepatomegaly, Decre... OMIM:614922
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Cirrhosis, Elevated hepatic transaminase, Abnormali... OMIM:613313
Dextrocardia
Meckel diverticulum, Situs inversus totalis, Abnormal heart morphology, Abnormal pulmonary situs ... ORPHA:1666
Urofacial Syndrome 2
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... OMIM:615112
Hyperbiliverdinemia
Green urine, Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Nephropathy, Splenomegaly ORPHA:100024
Thrombocytopenia-Absent Radius Syndrome
Spina bifida, Atrial septal defect, Horseshoe kidney, Edema of the dorsum of hands, Ventricular s... OMIM:274000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Trichohepatoenteric Syndrome 1
Polyhydramnios, Abnormalities of placenta or umbilical cord, Jaundice, Galactosuria, Wide nose, C... OMIM:222470
Argininosuccinic Aciduria
Hypoargininemia, Hyperglutaminemia, Aminoaciduria, Hepatic fibrosis, Hepatomegaly, Elevated circu... OMIM:207900
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Albuminuria, Increased level of gala... OMIM:230400
Meckel Syndrome, Type 1
Cryptorchidism, Elevated amniotic fluid alpha-fetoprotein, Accessory spleen, Hypoplasia of the bl... OMIM:249000
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pheochromocytoma, Hepatic cysts, Renal angiomyolipoma, Renal cell carcin... ORPHA:805
Glomerulopathy With Fibronectin Deposits 2
Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,... OMIM:601894
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Enlarged kidney, Macrovesicular hepatic steatosis, Patent duc... OMIM:617303
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Noonan Syndrome 12
Polyhydramnios, Ventricular septal defect, Supravalvular aortic stenosis, Tetralogy of Fallot, De... OMIM:618624
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Jaundice, Ab... OMIM:618528
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, High palate, Anal atresia, Wide nasal bridge ORPHA:2863
Cirrhosis, Familial
Abdominal distention, Increased level of L-fucose in urine OMIM:215600
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Pneumonia, Sinusitis, Asplenia, Chronic ... OMIM:244400
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Thickened nuchal skin fold ORPHA:93298
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Splenomegaly, Renal insufficiency, Hyperammonemia ORPHA:79312
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Proximal tubulopathy, Hypocholesterolemia, Hepa... OMIM:212065
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Pericardial effusion, Micropenis OMIM:614684
Nemaline Myopathy 8
Polyhydramnios, Decreased fetal movement, Fetal akinesia sequence OMIM:615348
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Primary Sclerosing Cholangitis
Jaundice, Hypoalbuminemia, Renal insufficiency, Cirrhosis, Acute hepatic failure, Abnormal biliar... ORPHA:171
Galactose Mutarotase Deficiency
Hepatomegaly, Decreased liver function, Hypergalactosemia, Cholestasis ORPHA:570422
Babesiosis
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Renal insufficiency ORPHA:108
Nail-Patella-Like Renal Disease
Microscopic hematuria, Renal insufficiency, Proteinuria, Glomerulopathy ORPHA:2613
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:300991
Congenital Bile Acid Synthesis Defect Type 4
Hepatomegaly, Cirrhosis, Biliary tract abnormality, Cholestasis ORPHA:79095
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Epidermolysis Bullosa Simplex With Pyloric Atresia
Polyhydramnios OMIM:612138
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Lethal Congenital Contracture Syndrome 7
Polyhydramnios, Decreased fetal movement, Fetal akinesia sequence OMIM:616286
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Umbilical hernia, Thickened nuchal skin fold ORPHA:93299
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Boomerang Dysplasia
Polyhydramnios, Cryptorchidism, Hydrops fetalis, Decreased response to growth hormone stimuation ... ORPHA:1263
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Cryptorchidism, Decreased fetal movement OMIM:618393
Harderoporphyria
Increased circulating ferritin concentration, Red urine, Hepatomegaly, Prolonged neonatal jaundic... OMIM:618892
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Acute kidney injury, Urinary bladder inflammation... ORPHA:449395
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Hydroureter, Pulmonary insufficiency, Patent... OMIM:265380
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Unconjugated... ORPHA:79234
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Fetal Akinesia Syndrome, X-Linked
Polyhydramnios, Stillbirth, Fetal akinesia sequence OMIM:300073
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Patent ductus arteriosus, Hepatic fibrosis, Hepatomegaly, Decr... OMIM:606003
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Cholestasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:172
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Ventricular septal defect, Abdominal situs inversus, Pulmonic stenosis, Asplenia,... OMIM:619123
Cystinuria
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Nephrotic Syndrome, Type 1
Glomerular sclerosis, Gastroesophageal reflux, Renal tubular atrophy, Renal insufficiency, Diffus... OMIM:256300
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Hypocomplementemic Urticarial Vasculitis
Hematuria, Small vessel vasculitis, Abnormal heart valve morphology, Pleural effusion, Pericardia... ORPHA:36412
Atresia Of Small Intestine
Vomiting, Abdominal distention, Feeding difficulties ORPHA:1201
Noonan Syndrome 8
Polyhydramnios, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pleural effusion... OMIM:615355
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Renal tubular acidosis, Hepatomegaly, Cardiomeg... OMIM:255120
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios OMIM:619303
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Pleural effusion, Single umbilical ar... OMIM:616897
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Pyruvate Carboxylase Deficiency
Hepatomegaly, Increased serum pyruvate, Proximal renal tubular acidosis, Hyperalaninemia OMIM:266150
Lambert Syndrome
Intrahepatic biliary atresia, Hypospadias, Jaundice OMIM:245550
Ventriculomegaly With Cystic Kidney Disease
Polyhydramnios, Ventricular septal defect, Renal corticomedullary cysts, Premature birth, Renal i... OMIM:219730
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the t... OMIM:619313
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney OMIM:615982
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat... OMIM:612926
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... OMIM:174000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Pancreatitis ORPHA:27
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Situs inversus totalis OMIM:613686
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Polyhydramnios, Endocardial fibroelastosis OMIM:600559
Diaphanospondylodysostosis
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney, Abnormal liver lo... OMIM:608022
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Renal duplication ORPHA:96190
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Fanconi Anemia, Complementation Group O
Cryptorchidism, Anal atresia, Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short s... OMIM:613390
Nemaline Myopathy 10
Polyhydramnios, Decreased fetal movement, Premature birth OMIM:616165
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Macrovesicular hepatic steatosis... OMIM:613070
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase OMIM:615895
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Ventricular septal defect, Abnormal heart morphology, Large placenta, Umbilical h... ORPHA:254534
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas... OMIM:615008
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal insufficiency, Renal agenesis, Acute kidney injury, Horseshoe kidney, Elevated hepatic tran... ORPHA:93111
Tyshchenko Syndrome
Polyhydramnios, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pulmonic stenosi... OMIM:615102
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Microvillus Inclusion Disease
Abnormal renal physiology, Nephrocalcinosis, Diarrhea, Abdominal distention ORPHA:2290
Trisomy 1Q
Polyhydramnios, Cryptorchidism, Hydrops fetalis, Ventricular septal defect, Congenital megaureter... ORPHA:261344
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Abnormal a... OMIM:613807
Trisomy 13
Cryptorchidism, Atrial septal defect, Hydrops fetalis, Multiple renal cysts, Ventricular septal d... ORPHA:3378
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephroti... OMIM:617713
Athyreosis
Constipation, Abdominal distention, Feeding difficulties ORPHA:95713
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia, Nephropathy, Renal tubular atrophy, Renal insufficiency, Nephritis OMIM:162000
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis OMIM:608644
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria, Increased serum pyruvate OMIM:614741
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme... OMIM:618594
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Vascular dilatation, Chronic kidney disease, Ren... OMIM:617056
Hec Syndrome
Polyhydramnios, Arrhythmia, Endocardial fibroelastosis, Vaginal hydrocele, Premature birth, Cardi... ORPHA:2119
Atresia Of Urethra
Megacystis, Hydroureter, Recurrent urinary tract infections, Renal dysplasia, Vesicoureteral refl... ORPHA:105
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Tongue nodules, Pancreatic cyst... ORPHA:2750
Genitopalatocardiac Syndrome
Double outlet right ventricle, Renal cyst, Cleft palate, Hypospadias, Right aortic arch, Transpos... OMIM:231060
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria, Hyperthreoninemia OMIM:204000
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
C Syndrome
Cryptorchidism, Renal cortical cysts, Short nose, Ventricular septal defect, Patent ductus arteri... OMIM:211750
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome OMIM:613779
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polyhydramnios, Nephrocalcinosis, Atrial septal defect, Premature birth OMIM:611087
Developmental And Epileptic Encephalopathy 70
Polyhydramnios, Cryptorchidism OMIM:618298
Complement Factor H Deficiency
Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu... OMIM:609814
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Galactosemia
Cryptorchidism, Cirrhosis, Elevated hepatic transaminase, Increased level of galactitol in plasma... ORPHA:352
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Renal cyst, Multicystic kidney dysplasia ORPHA:2031
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Polyhydramnios, Cryptorchidism, Decreased fetal movement OMIM:618766
Pontocerebellar Hypoplasia Type 4
Polyhydramnios ORPHA:166063
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Conjugated hyperbilirubinemia, Hepat... OMIM:619232
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Fetal akinesia sequence, Hypoplasia ... OMIM:617022
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hemoglobin H Disease
Hepatomegaly, Splenomegaly OMIM:613978
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Nephrocalcinosis, Atrial septal defect, Congestive heart failure ORPHA:500533
Cryoglobulinemic Vasculitis
Hematuria, Viral hepatitis, Glomerulopathy, Hepatomegaly, Splenomegaly, Renal insufficiency, Abno... ORPHA:91138
Nephronophthisis
Renal insufficiency ORPHA:655
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Splenomegaly OMIM:608971
Donohue Syndrome
Ovarian cyst, Long penis, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia OMIM:246200
Sickle Cell Anemia
Hematuria, Cholelithiasis, Hepatomegaly, Jaundice, Cardiomegaly, Splenomegaly, Renal insufficiency OMIM:603903
Cantu Syndrome
Lymphedema, Pericardial effusion, Umbilical hernia, Congenital hypertrophy of left ventricle, Car... OMIM:239850
Visceral Myopathy 1
Malnutrition, Megacystis, Abdominal pain, Dysphagia, Constipation, Intestinal pseudo-obstruction,... OMIM:155310
Femoral-Facial Syndrome
Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal h... ORPHA:1988
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
8p23.1 deletion syndrome
Atrioventricular canal defect, Cryptorchidism, Atrial septal defect, Abnormal heart morphology DECIPHER:39
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Fetal polyuria, Hydrops fetalis, Tubulointerstitial fibrosis, Hypernatriuria, Pol... OMIM:602522
Renal Cysts And Diabetes Syndrome
Abnormal renal morphology, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Decr... OMIM:137920
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Partial Atrioventricular Septal Defect
Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double outlet right ventric... ORPHA:1330
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Cryptorchidism, Hepatomegaly, Hypospadias, Hyperammonemia, 3-Methylglutaconic aciduria OMIM:604273
Joubert Syndrome 15
Nephronophthisis, Micropenis OMIM:614464
Free Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Splenomegaly, Ascites, Nephrotic syndrome, Recurrent respiratory i... ORPHA:834
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Hepatomegaly, Int... OMIM:243300
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria,