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
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095

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)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:614377
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Indomethacin Embryofetopathy
Atrial septal defect, Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dyspl... ORPHA:1909
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... OMIM:208540
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... OMIM:607361
Biliary Atresia, Extrahepatic
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... OMIM:210500
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph... OMIM:602114
Congenital Sucrase-Isomaltase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal colic ORPHA:35122
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Campomelia, Cumming Type
Short stature, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:616307
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Oligohydramnios, Cystic renal dysplasia, ... OMIM:615415
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Renal insufficiency, Decreased glomerular filtration rate, Hepati... OMIM:618061
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Meckel Syndrome, Type 7
Right ventricular hypertrophy, Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Mul... OMIM:267010
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... ORPHA:2924
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Cryptorchidism OMIM:613861
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Glycine N-Methyltransferase Deficiency
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ... ORPHA:446
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... OMIM:613027
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst OMIM:174050
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Meckel Syndrome, Type 6
Aplasia of the bladder, Hepatic cysts, Absent gallbladder, Renal cyst, Hepatic fibrosis, Horsesho... OMIM:612284
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartat... ORPHA:79302
Trehalase Deficiency
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:103909
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Eosinophilic liver infiltration, Hepatosplenomegaly, Membranous nephropathy, ... OMIM:618999
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the k... ORPHA:369
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Porphyria Cutanea Tarda, Type I
Porphyrinuria, Hepatic fibrosis OMIM:176090
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Ovar... ORPHA:400
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... OMIM:614817
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Polycystic liver disease, Pancreatic fibrosis, Renal cyst, Con... OMIM:208500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619658
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency, Ascites, Pericardial effusion OMIM:256150
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst OMIM:611561
Hydrops Fetalis
Abnormality of the kidney, Abnormality of the urinary system, Nonimmune hydrops fetalis, Arrhythm... ORPHA:1041
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Cir... ORPHA:30391
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Coach Syndrome 2
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circ... OMIM:619111
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Colonic Atresia
Abdominal distention OMIM:303650
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, H... OMIM:616278
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... ORPHA:3156
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Hepatic Veno-Occlusive Disease
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Asci... ORPHA:890
Nuchal Bleb, Familial
Hydrops fetalis, Stillbirth, Fetal cystic hygroma OMIM:257350
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Renal Tubular Dysgenesis
Nephropathy, Multiple renal cysts, Tetralogy of Fallot, Renotubular dysgenesis, Polyhydramnios, P... ORPHA:3033
Congenital Pancreatic Cyst
Anorexia, Abdominal distention, Vomiting, Abdominal pain ORPHA:313906
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycystic kidney dysp... OMIM:610199
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Pulmonary artery atresia, Atrioventricular canal defect OMIM:606217
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Meningocele OMIM:603194
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... OMIM:145001
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia OMIM:618948
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba... OMIM:613159
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... OMIM:619433
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Periportal fibrosis OMIM:213010
Fetal Parvovirus Syndrome
Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy ORPHA:295
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... ORPHA:3032
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic ki... OMIM:616629
Campomelia, Cumming Type
Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts, Abnormality of the pancreas, Pa... ORPHA:1318
Senior-Boichis Syndrome
Reduced number of intrahepatic bile ducts, Malformation of the hepatic ductal plate, Cholestasis,... ORPHA:84081
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... OMIM:271500
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Abnormality of the kidney, ... ORPHA:101028
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal spleen morphology, Hepatosplenomegaly, Epi... ORPHA:464329
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst, Meningocele OMIM:611134
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Conjugate... ORPHA:53035
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615482
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Renal cyst, Hepatomegaly OMIM:614870
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... OMIM:604387
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:620010
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops... ORPHA:2414
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Alveolar Echinococcosis
Abnormality of bladder morphology, Decreased liver function, Abnormal spleen morphology, Hepatic ... ORPHA:284
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Preeclampsia, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohyd... ORPHA:163596
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Lethal Congenital Contracture Syndrome 6
Polyhydramnios, Decreased fetal movement OMIM:616248
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Nephritis, Cervical lymphadenopathy, Diffuse alve... OMIM:614034
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion, Abnormality of the peritoneum ORPHA:48686
Caroli Syndrome
Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Hyperbilirubinemia, Hepatic failure, Cirrhosis, A... ORPHA:480520
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Micropenis, Hypospadias, Hydrops fetalis, Dilated cardiomyopathy, Cryptorchidism, Hypertrophic ca... OMIM:618815
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Cirrhosis, Renal cyst, Hepatic fibrosis, Hypoalbuminemia, Proximal... OMIM:602579
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy, M... OMIM:618052
Idiopathic Neonatal Atrial Flutter
Abnormal left ventricular function, Supraventricular tachycardia, Hydrops fetalis, Maternal diabe... ORPHA:45452
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatosplenomegaly, Membranoproliferative glomerulonephritis, Hepatic ... OMIM:619858
Glycogen Storage Disease Iv
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydramnios, Edem... OMIM:232500
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Hypervitaminosis A, Susceptibility To
Abnormality of the liver, Ascites, Renal insufficiency, Hypercalcemia OMIM:240150
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephr... OMIM:216360
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Prolong... OMIM:301068
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly, Abnormality of the urinary system, Hydrops fetalis, Polyhydramnios, A... ORPHA:2204
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid conc... OMIM:231680
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia ORPHA:28
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... ORPHA:3405
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... OMIM:618329
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea ORPHA:103907
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Retinitis Pigmentosa 89
Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis, Intrahepatic bile duct dilatation OMIM:618955
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Hepatomegaly, Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus... ORPHA:2123
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:157
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Hematuria, Edema, Intern... ORPHA:90308
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Recurrent pneumonia, Bronchiectasis OMIM:611884
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... ORPHA:228308
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Primary Peritoneal Carcinoma
Abdominal distention, Nausea and vomiting, Constipation, Abdominal pain ORPHA:168829
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... OMIM:613550
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism OMIM:613730
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice OMIM:230350
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Hepatic cys... ORPHA:100085
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:614679
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Renal insufficiency, Displacement of the urethr... ORPHA:2377
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, ... OMIM:619386
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... ORPHA:210122
Intestinal Dysmotility Syndrome
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... OMIM:620045
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Nonimmune hydrops fetalis, Abnormality of the amniotic fluid, Cardiom... OMIM:608540
Achondrogenesis, Type Ib
Hydrops fetalis, Polyhydramnios, Edema, Umbilical hernia, Stillbirth, Breech presentation OMIM:600972
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hepa... ORPHA:567983
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Adams-Oliver Syndrome 6
Renal hypoplasia, Hepatic fibrosis, Portal hypertension, Splenomegaly OMIM:616589
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatosplenomegaly, Ascites, Hepatomegaly OMIM:608776
D-Bifunctional Protein Deficiency
Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, Bile duct pro... OMIM:261515
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Hydrops fetalis, Ascites,... OMIM:269920
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Congenital Pulmonary Airway Malformation
Polyhydramnios, Premature birth ORPHA:2444
Mosaic Trisomy 9
Atrial septal defect, Hypoplasia of penis, Abnormal liver lobulation, Oligohydramnios, Hydrops fe... ORPHA:99776
Xk Aprosencephaly Syndrome
Ventricular septal defect, Polyhydramnios, Atrial septal defect ORPHA:3469
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Overriding aorta, Hydrops fetalis, Ventricular septal def... OMIM:601927
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:618063
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ... OMIM:232700
Myopathy, Congenital, Nonprogressive
Atrial septal defect, Polyhydramnios, Patent foramen ovale, Breech presentation, Decreased fetal ... OMIM:619967
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death, Lacticaciduria... OMIM:619003
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Hirschsprung Disease, Susceptibility To, 1
Constipation, Vomiting, Abdominal distention, Enterocolitis OMIM:142623
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Abnormality of the kidney, Elevat... ORPHA:275555
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Ring Chromosome 8 Syndrome
Polyhydramnios, Abnormality of the ureter, Hydronephrosis ORPHA:1450
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice ORPHA:60
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Hydrops fetalis, Nonimmune hydrops... OMIM:603830
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
Hypoglossia With Situs Inversus
Situs inversus totalis, Polysplenia, Asplenia OMIM:612776
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Multiple renal cysts, Renal cell ... OMIM:193300
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Cardiac Valvular Dysplasia 1
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Tricuspid regurgitation, Hydrourete... OMIM:212093
Primary Ciliary Dyskinesia
Double outlet right ventricle, Anomalous pulmonary venous return, Recurrent sinopulmonary infecti... ORPHA:244
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Hyperbilirubinemia, Hepatic failur... OMIM:251880
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Hepatic failure, Sple... OMIM:278000
Lymphatic Malformation 12
Hydrocele testis, Fetal pericardial effusion, Nonimmune hydrops fetalis, Neonatal death, Polyhydr... OMIM:620014
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Dextrocardia, Bronchiectasis OMIM:617577
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory i... OMIM:616037
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Renal cortical cysts OMIM:617668
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Hyper... OMIM:618719
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Re... ORPHA:54370
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Tyrosinemia, Type I
Hypophosphatemic rickets, Hepatomegaly, Hepatic failure, Elevated alpha-fetoprotein, Splenomegaly... OMIM:276700
Enterocolitis
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia OMIM:226150
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hyperoxaluria OMIM:601539
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Elevated circulating creatine kina... ORPHA:370
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Meckel Syndrome
Urethral atresia, Cryptorchidism, Pancreatic fibrosis, Accessory spleen, Anencephaly, Multicystic... ORPHA:564
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Recurrent respiratory infections OMIM:106700
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Edema, Hydronephrosis, Decreas... OMIM:607598
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Hydrops fetalis, Nephropathy, Pedal edema, Umbilical hernia, Ascites ORPHA:87876
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Abnormal left ventricular function, Supraventricular tachycardia, Sudden cardiac death, Ventricul... ORPHA:300751
Rft1-Cdg
Hepatomegaly ORPHA:244310
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Jaundice, Elevated circulating long chain fatty acid concentration, Aminoaciduria, ... OMIM:214110
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Infantile Liver Failure Syndrome 3
Hepatomegaly, Hyperammonemia, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic ... OMIM:618641
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, 3-Methy... ORPHA:26791
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of penis, Single umbilical artery, Ventricular septal defect, Polyhydramnios, Renal hy... ORPHA:2256
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Nephrolithiasis, Abdominal distention, Recurrent urinary tract infections, Hypoperistalsis, Fetal... OMIM:619365
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Abnormal renal physiology, Microscopic hematuria, Elevated circula... OMIM:274150
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Hydrops fetalis, Stillbirth, Premature birth OMIM:215045
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:110
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Glucose/Galactose Malabsorption
Abdominal distention, Glycosuria, Hyperactive bowel sounds, Chronic diarrhea OMIM:606824
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly OMIM:614882
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... ORPHA:79230
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Elevated hepatic transaminase, Duplicated collecting system, Hydronephr... OMIM:617093
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Alagille Syndrome 2
Cholestatic liver disease, Renal tubular acidosis, Hematuria, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
Multiple Intestinal Atresia
Polyhydramnios ORPHA:2300
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Nephronophthisis, Reduced renal corticomedullary differentiation, Hepatosplenomegal... OMIM:266920
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Decreased HDL ... ORPHA:247585
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Alveolar cap... OMIM:265380
Tracheal Agenesis
Polyhydramnios, Abnormal cardiac septum morphology ORPHA:3346
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Abnormal left ventricular function, Elevated urinary catecholamines, Po... ORPHA:892
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Facial edema, Splenomegaly, Urinary excretion of sialylated... OMIM:256550
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Nephroblastoma, Asc... OMIM:253250
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Dubin-Johnson Syndrome
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, J... ORPHA:234
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Splenogonada... OMIM:156810
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Cleft palate, Short stature, Ovarian cyst, Bifid tongue, Lobulated... OMIM:311200
Cranioectodermal Dysplasia 2
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Cholestasis, Elevat... OMIM:613610
Mirror Movements 3
Situs inversus totalis OMIM:616059
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Palpebral edema, Intrahepatic biliary dysgenesis,... OMIM:614866
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Decreased fetal movement OMIM:617194
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Mpi-Cdg
Decreased liver function, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Portal hypertension ORPHA:79319
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... OMIM:619487
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Hyperammonemia, Renal insufficiency ORPHA:289916
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Renal insufficiency ORPHA:254857
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... ORPHA:90301
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Fetal Akinesia Syndrome, X-Linked
Polyhydramnios, Stillbirth, Fetal akinesia sequence, Arrhinencephaly OMIM:300073
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Dextrocardia, Abnormal tricuspid valve morphology, Duodenal stenosis ORPHA:1759
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Cranioectodermal Dysplasia 1
Chronic kidney disease, Hypocalcemia, Hepatomegaly, Hepatic failure, Stage 1 chronic kidney disea... OMIM:218330
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Glucose-Galactose Malabsorption
Nephrolithiasis, Abdominal distention, Diarrhea, Hematuria, Vomiting, Renal insufficiency, Malnut... ORPHA:35710
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Congenital Enterovirus Infection
Hydrops fetalis, Cholestasis, Myocarditis, Hypotension, Polyhydramnios, Pericardial effusion, Hep... ORPHA:292
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Porphyrinuria, Viral hepatitis, Periportal fibrosis... ORPHA:101330
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Duplicated colle... ORPHA:541423
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Periportal fibrosis OMIM:263210
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polyhydramnios, Neonatal death, Fetal akinesia sequence OMIM:619602
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Abnormal ser... ORPHA:79303
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Senior-Loken Syndrome 3
Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic kidney disease OMIM:606995
Mirizzi Syndrome
Cholelithiasis, Dark urine, Pancreatitis, Hyperbilirubinemia, Jaundice, Elevated hepatic transami... ORPHA:521219
Pyloric Atresia
Polyhydramnios OMIM:265950
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Nephronophthisis, Abnormality of the kidney, Hypospadias, Hepatic cysts... ORPHA:1505
Cap Polyposis
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia ORPHA:160148
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Polyhydramnios, Dilated cardiomyopathy OMIM:300580
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Elevated circulating creatine kina... ORPHA:264580
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Hepatic fibrosis, Renal hypoplasia, Ascites OMIM:614091
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect, Decreased fetal movement OMIM:253300
Autosomal Recessive Amelia
Polyhydramnios, Cryptorchidism, Hypoplasia of penis, Abnormal cardiac septum morphology ORPHA:1027
Achondrogenesis
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:932
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis, Neonatal death, Endocardial fibroelastosis OMIM:276822
Mosaic Trisomy 1
Renal cortical cysts, Single umbilical artery, Micropenis, Ventricular septal defect, Polyhydramn... ORPHA:1692
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Hydrops fetalis, Abnormality of the spleen, ... ORPHA:85212
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... ORPHA:846
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Focal segmental glomerulosclerosis, Renal cys... OMIM:617056
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Tetralogy of Fallot, Ventricular septal de... OMIM:618624
Interstitial Lung And Liver Disease
Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated circulating asp... OMIM:615486
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Seizures-Scoliosis-Macrocephaly Syndrome
Polyhydramnios, Cryptorchidism, Atrial septal defect, Abnormality of the kidney ORPHA:466926
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Re... OMIM:615444
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure, Decreased fetal movement OMIM:616794
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft palate, Hypospadias, Renal cyst, Transposition of the great ... OMIM:231060
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Dextrocardia
Intestinal malrotation, Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormality... ORPHA:1666
Osteootohepatoenteric Syndrome
Hypokalemia, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hepat... OMIM:619377
Tuberous Sclerosis Complex
Pituitary adenoma, Chronic kidney disease, Parathyroid adenoma, Abnormality of the kidney, Renal ... ORPHA:805
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality OMIM:237500
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macrovesicular ... OMIM:617303
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... OMIM:619313
Jeune Syndrome
Nephropathy, Renal insufficiency, Abnormality of the liver, Nephronophthisis ORPHA:474
Propionic Acidemia
Organic aciduria, Hepatomegaly, Hyperammonemia ORPHA:35
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Free Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Hydrops fetalis, Proteinuria, Ascites, Recurrent ... ORPHA:834
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Pulmonic ... OMIM:619657
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Diarrhea 12, With Microvillus Atrophy
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition OMIM:619445
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:300991
Vesicoureteral Reflux 3
Polyhydramnios, Hydroureter, Vesicoureteral reflux, Hydronephrosis OMIM:613674
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Cryptorchidism, Pericardial effusion, Micropenis OMIM:614684
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Elevated circulating creatine kina... ORPHA:79240
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Argininosuccinic Aciduria
Oroticaciduria, Hepatomegaly, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoa... OMIM:207900
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Achondrogenesis Type 1B
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:93298
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Renal insufficiency, Jaundice ORPHA:108
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Renal insufficiency ORPHA:79312
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Cleft palate OMIM:221950
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... ORPHA:79234
Trichohepatoenteric Syndrome 1
Hepatomegaly, Splenomegaly, Pulmonic stenosis, Cirrhosis, Hypospadias, Cholestasis, Abnormality o... OMIM:222470
Nephronophthisis 15
Nephronophthisis, Hepatic failure OMIM:614845
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios, Renal insufficiency, Renal corticomedullary cysts, Pre... OMIM:219730
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart... OMIM:619525
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Polyhydramnios, Neonatal death OMIM:612138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Nemaline Myopathy 8
Polyhydramnios, Fetal akinesia sequence, Decreased fetal movement OMIM:615348
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Paternal Uniparental Disomy Of Chromosome 5
Polyhydramnios, Secundum atrial septal defect, Renal duplication ORPHA:96190
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Fetal Akinesia Deformation Sequence 4
Polyhydramnios, Cryptorchidism, Decreased fetal movement OMIM:618393
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Galactosemia I
Decreased liver function, Increased level of galactitol in urine, Hepatomegaly, Increased level o... OMIM:230400
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Hypergalactosemia, Cholestasis ORPHA:570422
Achondrogenesis Type 1A
Thickened nuchal skin fold, Polyhydramnios, Hydrops fetalis, Umbilical hernia ORPHA:93299
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly ORPHA:46532
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... OMIM:214900
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... ORPHA:171
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Lower eyelid edema, Aortic... ORPHA:363705
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating aspartate aminot... OMIM:619534
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Micropenis, Hypospadias, Hydrops fetalis, Ventricular septal defect,... OMIM:616897
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Hematuria, Glomerulopathy, Angioedema, Proteinuria, Pleural effusion,... ORPHA:36412
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Lethal Congenital Contracture Syndrome 7
Polyhydramnios, Fetal akinesia sequence, Decreased fetal movement OMIM:616286
Mu-Heavy Chain Disease
Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly ORPHA:100024
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... OMIM:308990
Atresia Of Small Intestine
Abdominal distention, Vomiting, Feeding difficulties ORPHA:1201
Joubert Syndrome 4
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... OMIM:609583
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Multi... ORPHA:1454
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de... OMIM:619123
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Dextrocardia OMIM:613686
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Hyperbilirubinemia, P... ORPHA:64743
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... ORPHA:449395
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... OMIM:619048
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Pontocerebellar Hypoplasia, Type 1E
Polyhydramnios OMIM:619303
Alg9-Cdg
Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Ureteral hypoplasia, Hypoplasia of th... ORPHA:79328
Mpdu1-Cdg
Renal cortical cysts ORPHA:79323
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:614727
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Boomerang Dysplasia
Polyhydramnios, Cryptorchidism, Hydrops fetalis, Decreased response to growth hormone stimulation... ORPHA:1263
Lambert Syndrome
Hypospadias, Jaundice, Intrahepatic biliary atresia OMIM:245550
Vitamin B12-Unresponsive Methylmalonic Acidemia
Renal insufficiency, Pancreatitis, Hepatomegaly, Hyperammonemia ORPHA:27
Diaphanospondylodysostosis
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... OMIM:608022
Harderoporphyria
Increased circulating ferritin concentration, Increased urine harderoporphyrin level, Hepatomegal... OMIM:618892
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Stroke, Nephropathy, Hematuria, Renal cyst, Dilatation of the cerebral artery, Vascular dilatatio... OMIM:611773
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseudo-obstruction, ... OMIM:613662
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Trisomy 1Q
Congenital megaureter, Hydrops fetalis, Multicystic kidney dysplasia, Ventricular septal defect, ... ORPHA:261344
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis OMIM:620032
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Atrial septal defect, Atrioventricular canal defect, Hepatosplenomeg... OMIM:274000
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne... ORPHA:1988
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Abnormality of endocrine pancreas p... ORPHA:93111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Cholestatic liver disease, Hepatomegaly, Renal tubular acidosis, Right vent... OMIM:613404
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Polyhydramnios, Endocardial fibroelastosis OMIM:600559
Trisomy 13
Atrial septal defect, Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Ventricul... ORPHA:3378
Progressive Familial Intrahepatic Cholestasis
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Gastroesophageal reflux, Abdominal distention, Diffuse mesangial s... OMIM:256300
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts OMIM:617425
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Meningocele, Congenital hepatic fibrosis ORPHA:2031
Pyruvate Carboxylase Deficiency
Hyperalaninemia, Increased serum pyruvate, Hepatomegaly, Proximal renal tubular acidosis OMIM:266150
Nephronophthisis
Renal insufficiency ORPHA:655
Senior-Loken Syndrome 4
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Joubert Syndrome 20
Renal cyst OMIM:614970
Nemaline Myopathy 10
Polyhydramnios, Premature birth, Decreased fetal movement OMIM:616165
Tyshchenko Syndrome
Atrial septal defect, Supernumerary nipple, Pulmonic stenosis, Ventricular septal defect, Polyhyd... OMIM:615102
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Unilateral renal agenesis, Abnormality of the... OMIM:137920
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen... OMIM:255120
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hypoplasia of the thymus, Hydrops fetalis, Ventricular septal defect, Oligohydr... OMIM:617022
Galactosemia
Hepatomegaly, Hepatic failure, Cirrhosis, Increased level of galactitol in plasma, Hypergalactose... ORPHA:352
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Orofaciodigital Syndrome Type 1
Exocrine pancreatic insufficiency, Multicystic kidney dysplasia, Abnormality of the pancreas, Ele... ORPHA:2750
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... OMIM:619484
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia OMIM:181180
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Hypocalcemia, Cirrhosis, Recurrent urinary tract infections, Cholestasi... OMIM:613658
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Nephrocalcinosis, Atrial septal defect, Congestive heart failure ORPHA:500533
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Ventricular septal defect, Polyhydramnios, Umbilical hernia, Abnormal heart morph... ORPHA:254534
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Polyhydramnios, Cryptorchidism, Decreased fetal movement OMIM:618766
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Pe... OMIM:239850
Pontocerebellar Hypoplasia Type 4
Polyhydramnios ORPHA:166063
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Cleft palate, Short stature, Multiple renal cysts, Tetralogy of Fallot,... ORPHA:1166
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Dilated c... ORPHA:367
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Patent foramen ovale, Premature birth, Decreased fetal movement OMIM:616867
Meckel Syndrome, Type 1
Splenomegaly, Renal agenesis, Abnormality of the ureter, Accessory spleen, Hypoplasia of the blad... OMIM:249000
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia OMIM:228940
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal renal physiology ORPHA:2290
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Hepatomegaly, Acute he... OMIM:619644
Developmental And Epileptic Encephalopathy 70
Polyhydramnios, Cryptorchidism OMIM:618298
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Splenomegaly, Hematuria, Proteinuria, Renal insufficiency, Glomeru... ORPHA:91138
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Splenomegaly OMIM:237800
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Recurrent bronchitis, Pneumonia, Bronchiectasis, Asplenia OMIM:244400
Visceral Myopathy 1
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Vomiting, Urinary retention, Malnut... OMIM:155310
Beckwith-Wiedemann Syndrome
Nephrolithiasis, Hepatomegaly, Hepatoblastoma, Renal cortical cysts, Pancreatic hyperplasia, Neph... OMIM:130650
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Atrial septal defect, Tachycardia, Arrhythmia, Ventricular septal defect, Prolonged... ORPHA:26793
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Dextrocardia, Anal atresia ORPHA:2863
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Ventricular septal defect, Bradycardia, Hypertrophic cardiomyopathy, Pericardial ... OMIM:618775
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:608644
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Hec Syndrome
Premature birth, Arrhythmia, Endocardial fibroelastosis, Polyhydramnios, Cardiomyopathy, Vaginal ... ORPHA:2119
Focal Segmental Glomerulosclerosis 3, Susceptibility To