Not currently registered for phenotyping at IMPC

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

Gene Summary

polycystic kidney and hepatic disease 1
FPC,  tigmin

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Pkhd1 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 Pkhd1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pkhd1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... OMIM:614377
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Gallbladder Disease 1
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... OMIM:600803
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... OMIM:602347
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Malformation of the hepatic ductal plat... OMIM:607361
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Campomelia, Cumming Type
Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts OMIM:211890
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph... OMIM:602114
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Biliary Atresia, Extrahepatic
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... OMIM:210500
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... OMIM:208540
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... OMIM:616307
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... ORPHA:79302
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Multicystic kidney dysplasia, Abnormality of the pancreas, Ren... ORPHA:3032
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... OMIM:613027
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multicystic kidney dysplasia, Cholestasis, Multiple glomerular cysts, Portal ... OMIM:267010
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Hepatic fibrosis,... OMIM:604387
Meckel Syndrome, Type 6
Aplasia of the bladder, Cleft palate, Hepatic cysts, Absent gallbladder, Renal cyst, Hepatic fibr... OMIM:612284
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
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, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... OMIM:619662
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Spontaneous pneumothorax, Jaund... ORPHA:731
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Isolated Polycystic Liver Disease
Polycystic liver disease, Hepatomegaly, Multiple renal cysts, Abnormality of the pancreas ORPHA:2924
Autoinflammation, Immune Dysregulation, And Eosinophilia
Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Short stature, Hepatosplenomegaly, A... OMIM:618999
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Polycystic liver disease, Renal cyst, Ascites OMIM:174050
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... ORPHA:730
Meckel Syndrome, Type 5
Bile duct proliferation, Renal cyst, Cleft palate OMIM:611561
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Polysyndactyly With Cardiac Malformation
Renal cyst, Stillbirth, Hepatic cysts OMIM:263630
Porphyria Cutanea Tarda, Type I
Porphyrinuria, Hepatic fibrosis OMIM:176090
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Nephronophthisis-Like Nephropathy 1
Chronic pancreatitis, Renal tubular atrophy, Nephronophthisis, Hyperechogenic kidneys, Tubular ba... OMIM:613159
Nephronophthisis 16
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... OMIM:615382
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, ... OMIM:208500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure OMIM:616719
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Caroli Syndrome
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Abnormality of the ki... ORPHA:480520
Meckel Syndrome, Type 2
Cleft palate, Intestinal malrotation, Renal cyst, Meningocele, Bile duct proliferation OMIM:603194
Mirizzi Syndrome
Cholelithiasis, Dark urine, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholesterol ga... ORPHA:521219
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Recurrent urinary tract infections, Multiple renal cysts, Hepatic cysts, Polycystic... OMIM:613095
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Retinitis Pigmentosa 89
Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Esophageal varix, ... OMIM:618955
Cystic Echinococcosis
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Peritoneal... ORPHA:400
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease OMIM:610688
Campomelia, Cumming Type
Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Multiple renal cysts, Abnormality of th... ORPHA:1318
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia OMIM:613313
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Polycys... OMIM:610199
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... ORPHA:567983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Hepatocel... ORPHA:369
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Fibrosclerosis, Multifocal
Thyroiditis, Retroperitoneal fibrosis, Sclerosing cholangitis, Abnormality of the liver OMIM:228800
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis ORPHA:446
Isolated Biliary Atresia
Decreased liver function, Hepatomegaly, Periportal fibrosis, Dark yellow urine, Splenomegaly, Cir... ORPHA:30391
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... OMIM:613759
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... ORPHA:53035
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Stillbirth,... OMIM:615415
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619874
Meckel Syndrome, Type 4
Bile duct proliferation, Renal cyst, Cleft palate, Meningocele OMIM:611134
Alveolar Echinococcosis
Abnormality of bladder morphology, Decreased liver function, Abnormal spleen morphology, Hepatic ... ORPHA:284
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Stage 5 chronic ki... OMIM:616629
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... OMIM:200995
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... ORPHA:65682
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... OMIM:231100
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Jaundice, Splenomegaly OMIM:224100
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Renal cyst, Hepatomegaly OMIM:614870
Coach Syndrome 2
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibro... OMIM:619111
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis, Recurrent sinusit... OMIM:615207
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
Butyrylcholinesterase Deficiency
Respiratory failure, Abnormality of the liver, Respiratory failure requiring assisted ventilation ORPHA:132
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Glycogen Storage Disease Iv
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, Portal hypertension OMIM:232500
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr... ORPHA:3156
Senior-Boichis Syndrome
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Cirrhosis,... ORPHA:84081
Axial Osteomalacia
Polycystic liver disease, Renal cyst OMIM:109130
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... OMIM:203700
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hepatocellular carcinoma, Argininosuccinic aciduria, Elevated circulating alanine a... OMIM:603471
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Immune Deficiency Disease
Fulminant hepatitis, Cholangitis OMIM:242850
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Renal insufficiency, Respiratory failure ORPHA:890
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:605479
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glo... OMIM:619858
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Cholestasis, Elevated hepatic trans... ORPHA:562639
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Renal insufficiency, Cryptorchidism OMIM:613861
Autoimmune Hepatitis
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... ORPHA:2137
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Cirrhosis ORPHA:79278
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney, Cryptorchidism OMIM:613730
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Hepatic fibrosis, Acute hepatic failure ORPHA:466794
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Dysuria ORPHA:293807
Caroli Disease, Isolated
Cholangitis, Hepatomegaly, Liver abscess, Portal hypertension OMIM:600643
Nephronophthisis 11
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disintegration, Hepa... OMIM:613550
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis OMIM:614196
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Neonatal death, Renal cyst, Renal hypoplasia, Respiratory failure OMIM:228940
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... ORPHA:64744
Bardet-Biedl Syndrome 16
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... OMIM:615993
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Esophag... OMIM:301068
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatitis, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Inflamma... OMIM:232220
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Exercise-induced myoglobinuria OMIM:232800
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Bare Lymphocyte Syndrome, Type Ii
Colitis, Viral hepatitis, Recurrent urinary tract infections, Biliary tract abnormality, Chronic ... OMIM:209920
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Immunodeficiency 92
Osteomyelitis, Hepatomegaly, Sclerosing cholangitis, Cholangitis, Pneumonia, Esophagitis OMIM:619652
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Hepatic failure, Steatorrhea, Cirrhosis, Renal cyst, Villous atrophy, Hepatic fibro... OMIM:602579
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Hepatic cys... ORPHA:100085
Coach Syndrome 1
Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephr... OMIM:216360
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hepatic hemangioma, Multiple renal cysts, Renal cell ... OMIM:193300
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly ORPHA:846
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis OMIM:616263
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Plin1-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Congenital Bile Acid Synthesis Defect Type 1
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... ORPHA:79301
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Martinez-Frias Syndrome
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... OMIM:601346
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Aminoaciduria, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:619386
Adams-Oliver Syndrome 6
Splenomegaly, Renal hypoplasia, Hepatic fibrosis, Esophageal varix, Portal hypertension OMIM:616589
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly OMIM:232400
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Acute hepatic failure ORPHA:882
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... OMIM:557000
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension OMIM:617068
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Respiratory distress, Hepatomegaly, Cryptorchidism, Micropenis, Eczema, Pancreati... ORPHA:83617
Arima Syndrome
Occipital meningocele, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial ... OMIM:243910
Kaposiform Lymphangiomatosis
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormality of the ly... ORPHA:464329
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Splenomegaly, Cholecystitis, Pigment gallstones, Jaundice OMIM:613470
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality ORPHA:79168
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... OMIM:615630
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoacidur... OMIM:231680
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Accessory spleen, Multicysti... ORPHA:564
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Hepatomegaly OMIM:614882
Nephronophthisis 18
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... OMIM:615862
Joubert Syndrome 9
Episodic tachypnea, Apnea, Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, 3-Meth... OMIM:618329
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Lambert Syndrome
Hypospadias, Jaundice, Intrahepatic biliary atresia OMIM:245550
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Crigler-Najjar Syndrome Type 1
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice ORPHA:79234
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... OMIM:211600
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:222800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
D-Bifunctional Protein Deficiency
High palate, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal cyst, ... OMIM:261515
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... ORPHA:64743
Hepatomegaly ORPHA:244310
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Hepatitis, Jaundice OMIM:194380
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Respiratory failure, Neonatal death OMIM:301021
Acholic stools, Biliary tract neoplasm, Jaundice ORPHA:70567
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Laurence-Moon Syndrome
Hypoplasia of penis, Congenital hepatic fibrosis, Renal insufficiency, Displacement of the urethr... ORPHA:2377
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Jaundice, Cholangitis OMIM:607626
Joubert Syndrome 35
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis OMIM:618161
Hemochromatosis Type 2
Elevated hepatic transaminase, Abnormality of endocrine pancreas physiology, Congenital hepatic f... ORPHA:79230
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Hepatomegaly, Death in infancy, Splenomegaly ORPHA:139406
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom... ORPHA:85450
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Asthma, Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthrit... ORPHA:183675
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Acute hepatic failure, Short stature, Death in childhood, Cholestasis... OMIM:618641
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... OMIM:619991
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Chronic lung disease, Hepatiti... ORPHA:228426
Psoriasis 14, Pustular
Psoriasiform dermatitis, Oligoarthritis, Pustule, Cholangitis OMIM:614204
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly OMIM:235700
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Orofaciodigital Syndrome I
Myelomeningocele, High palate, Cleft palate, Ovarian cyst, Bifid tongue, Lobulated tongue, Hepati... OMIM:311200
Short Rib-Polydactyly Syndrome
Urogenital sinus anomaly, Intrauterine growth retardation, Disproportionate short-limb short stat... ORPHA:1505
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis OMIM:231530
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Immunodeficiency 54
Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, ... OMIM:609981
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver ORPHA:1980
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Cirrhosis, Renal cyst, Hepatic fibrosis, Hyperoxaluria OMIM:601539
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Duplica... OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Microvesicular hepatic steatosis, Aminoaciduria, Cholestasis, Elevated ... OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Long-chain dicarboxylic aciduria, Hepatic... OMIM:608836
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal cortical adeno... OMIM:145001
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Intrauterine growth retardation, Methylmalonic aciduria, Respiratory insufficiency, Elevated circ... OMIM:245400
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Median cleft lip a... ORPHA:699
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Intestinal malrotation, Pancreatic fibrosis, Hamartoma of tongue, Polycystic kidney... OMIM:263520
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice ORPHA:60
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
High palate, Hepatomegaly, Nephronophthisis, Reduced renal corticomedullary differentiation, Macr... OMIM:266920
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Cholestasis-Lymphedema Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cho... OMIM:214900
Alagille Syndrome 2
Cholestatic liver disease, Renal tubular acidosis, Hematuria, Cholestasis, Renal cyst, Renal hypo... OMIM:610205
Spherocytosis, Type 1
Cholelithiasis, Jaundice, Splenomegaly OMIM:182900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Peroxisome Biogenesis Disorder 8A (Zellweger)
Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst, Cryptorchidism OMIM:615982
Fanconi Anemia, Complementation Group O
Miscarriage, Short stature, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Cryptor... OMIM:613390
Decreased liver function, Hepatomegaly, Hepatic fibrosis, Protein-losing enteropathy, Portal hype... ORPHA:79319
Galactose Epimerase Deficiency
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Bardet-Biedl Syndrome
Nephrotic syndrome, Hypoplasia of the ovary, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:110
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing ch... OMIM:308230
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormali... ORPHA:234
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hepatomegaly, Respiratory failure, Death in infancy OMIM:614299
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Necrotizing enter... OMIM:201475
Respiratory distress, Nephrogenic rest, Tracheomalacia, Abnormal liver lobulation, Respiratory in... OMIM:608022
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Hepatomegaly, Hypoxemia, Skin rash, Rheumatoid arthritis, Eczema, ... ORPHA:79128
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... OMIM:301045
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Keratitis, Pancreatitis, Urethritis, Lymphadenitis, Myocarditis, Biliary tract abnormality, Pneum... ORPHA:2552
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Eosinophilia, Lymphopenia, Hepatic cysts OMIM:617425
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Hepatomegaly, Hypospadias, Abnormality of the kidney, 3-Methylgl... ORPHA:1194
Progressive Familial Intrahepatic Cholestasis
Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Respiratory failure OMIM:253300
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice OMIM:266200
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice OMIM:604901
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... OMIM:615710
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Death in childhood, Neonatal death, Cholestasis, Hepatic fibrosis, Death in infancy, G... OMIM:609313
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Cholestasis, Elevat... ORPHA:79303
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... OMIM:619481
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Splenomegaly, Hematuria, Renal insufficiency, Jaundice OMIM:603903
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Respiratory insufficiency, Multicystic kidney dysplasia, Congenital hepatic fibros... ORPHA:2031
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... ORPHA:370
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat... ORPHA:541423
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate ORPHA:2432
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Interstitial Lung And Liver Disease
Hepatomegaly, Aminoaciduria, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circ... OMIM:615486
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Cranioectodermal Dysplasia 2
High palate, Hepatomegaly, Cleft palate, Splenomegaly, Left ventricular hypertrophy, Cholestasis,... OMIM:613610
Transaldolase Deficiency
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... OMIM:606003
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhos... ORPHA:231222
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Chronic hepatitis due to cryptosporidium infection, Skin rash, Scl... ORPHA:572
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease OMIM:618913
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Abnormality of the kidney, Abnormal sali... ORPHA:449432
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Respiratory insufficiency, Multicystic kidney dysplasia, Nephro... ORPHA:1909
Cirrhosis, Familial
Cirrhosis, Hepatitis, Chronic active hepatitis OMIM:118900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormality of the urinary system, Cough, Respiratory failure requiring ass... ORPHA:90117
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Glycogen Storage Disease Ia
Nephrolithiasis, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Short stature,... OMIM:232200
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate ORPHA:3316
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... ORPHA:209902
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Respiratory failure, Death in infancy, Hydronephrosis OMIM:618240
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevated hepatic transaminas... OMIM:613812
Tuberous Sclerosis Complex
Respiratory distress, Pituitary adenoma, Chronic kidney disease, Parathyroid adenoma, Renal angio... ORPHA:805
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal atresia, Intestinal malrotation, Hypoplasia of the thymus, Peritoneal abscess, Hepatit... ORPHA:436252
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Recurrent urinary tra... OMIM:619487
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix OMIM:613490
Renal Hypodysplasia/Aplasia 4
Bilateral renal agenesis, Respiratory failure OMIM:619887
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamines, Multiple renal cysts, Renal cell carci... ORPHA:892
Cranioectodermal Dysplasia 1
High palate, Chronic kidney disease, Hepatomegaly, High, narrow palate, Hepatic failure, Stage 1 ... OMIM:218330
Donohue Syndrome
Ovarian cyst, Cholestasis, Long penis, Pancreatic islet-cell hyperplasia, Hepatic fibrosis, Postn... OMIM:246200
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Hepatomegaly, Respiratory failure, Death in infancy OMIM:610678
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Ileoileal intussusception, Chol... OMIM:619377
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
High palate, Cleft palate, Hypospadias, Short uvula, Renal cyst, Polycystic kidney dysplasia, Hep... OMIM:614091
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Esophageal varix, Jaundice ORPHA:75234
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated hepatic transaminase, Renal cyst, Decreased liver function, Multiple renal cysts OMIM:614883
Avian Influenza
Respiratory distress, Miscarriage, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Coug... ORPHA:454836
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Abnormalit... ORPHA:1414
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, 3-Methylglutaric aciduria, Acute pancreatitis, Elevated h... ORPHA:26791
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated circulating aspart... OMIM:619525
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Elevated hepatic transaminase ORPHA:79095
Ureteral hypoplasia, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplasia of th... ORPHA:79328
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter, Abnormality of the spleen, Respiratory insufficiency ORPHA:2487
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hepatosplenome... OMIM:616828
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Orofaciodigital Syndrome Type 1
High palate, Exocrine pancreatic insufficiency, Cleft palate, Multicystic kidney dysplasia, Abnor... ORPHA:2750
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Accessory s... OMIM:300972
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Myoglobinuria, Cholestasis, Hepato... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Ascites, L... ORPHA:100025
Renal Tubular Dysgenesis
Renotubular dysgenesis, Nephropathy, Multiple renal cysts, Proximal tubulopathy ORPHA:3033
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... OMIM:614922
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Bifid uvula, Cyst of the ductus choledochus OMIM:619480
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... ORPHA:90301
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Severe short stature, Aspiration pneumonia, Neonatal respiratory... OMIM:619057
Meckel Syndrome, Type 10
Hypospadias, Renal cyst, Malformation of the hepatic ductal plate, Micropenis OMIM:614175
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Asthma, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Spleno... ORPHA:3260
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Splenogonadal fusion, Cystic renal dysplasia, Biliary tract abnormalit... OMIM:156810
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
3-Methylglutaconic Aciduria, Type Viii
Apnea, 3-Methylglutaconic aciduria, Death in infancy, Growth delay, Respiratory failure OMIM:617248
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Elevated hepatic transaminase, Renal tubular dysfunction, Hepatic failure OMIM:614886
Familial Partial Lipodystrophy, Köbberling Type
Polycystic ovaries, Hepatic steatosis, Pancreatitis, Hepatomegaly ORPHA:79084
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom... OMIM:617303
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weak... OMIM:611890
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Cystic Fibrosis
Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis ORPHA:586
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Meckel Syndrome, Type 1
Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotation, Renal agenesis, Abnormality of ... OMIM:249000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Renal tubular dysfunction, Decreased liver function, Respiratory distress, Hepatomegaly, Aminoaci... OMIM:220110
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Exocrine pancreatic insufficiency, Unilateral renal agenesis, Abnormality of the... OMIM:137920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Short stature, Renal dysplasia, Hypoplastic... ORPHA:480880
Cholelithiasis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly ORPHA:3166
Glycogen Storage Disease Xii
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Cholecystitis, Elevated circulating a... OMIM:611881
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Short stature, Nephropathy, Gout, Focal segmental glomerulosclerosis, Ren... OMIM:617056
Primary Biliary Cholangitis
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Hepatitis, Hepatic fibrosis, Portal hyperte... ORPHA:186
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Hepatosplenomegaly, Ureteral duplication, Patent ductus arteriosus, Horseshoe kidne... OMIM:274000
Joubert Syndrome With Hepatic Defect
Neoplasm of the liver, Hepatomegaly, Splenomegaly, Intrahepatic biliary atresia, Cirrhosis, Multi... ORPHA:1454
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Decreased liver function, Intestinal malrotation, Cirrhosis, Recurrent urinary tract... OMIM:613658
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Crackles, Cough, Restrictive ventilatory defect, Glomerulonephr... ORPHA:99931
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... OMIM:619463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Stomach cancer, Enlarged poly... ORPHA:2869
Cholestasis, Benign Recurrent Intrahepatic, 1
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice OMIM:243300
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... OMIM:601847
Lambert Syndrome
Hypospadias, Jaundice, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Nephrocalcinosis, Asplenia OMIM:240300
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Myoglobi... ORPHA:79240
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Porphyria Cutanea Tarda
Porphyrinuria, Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma,... ORPHA:101330
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Jaundice, Cholestasis OMIM:614887
Citrullinemia Type Ii
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic fibr... ORPHA:247585
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Short stature, Respiratory insufficiency, Multiple renal cysts, Cryptor... ORPHA:1166
Triosephosphate Isomerase Deficiency
Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Death in adolescen... OMIM:615512
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in childhood, Neonatal death, Death in infancy, Respiratory failure OMIM:619334
Dominant Beta-Thalassemia
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... ORPHA:231226
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Bile Acid Conjugation Defect 1
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619232
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevat... OMIM:607765
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice OMIM:618549
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Myoglobinuria, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepat... ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatic failure, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph... ORPHA:445038
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag... OMIM:619534
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Cleft palate OMIM:231060
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged... ORPHA:79259
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth OMIM:236500
Gapo Syndrome
Breast hypoplasia, Hypoplastic nipples, Hepatomegaly, Tubulointerstitial fibrosis OMIM:230740
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Periportal fibrosis OMIM:263210
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Exocrine pancreatic insufficiency, Acute respiratory distress syndrome, Severe postnatal growth r... OMIM:620005
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... OMIM:214950
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:276700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Inflammation of the large i... OMIM:615895
Vacterl Association With Hydrocephalus
Stillbirth, Respiratory insufficiency, Renal hypoplasia, Respiratory failure OMIM:276950
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecy... ORPHA:131
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Distal Trisomy 5Q
Aplasia/Hypoplasia of the gallbladder, Hypospadias, Cryptorchidism ORPHA:96097
Beta-Thalassemia Major
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... ORPHA:231214
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Cryptorchidism, Respiratory failure, Micropenis ORPHA:370968
Joubert Syndrome 20
Respiratory insufficiency, Renal cyst OMIM:614970
Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatic fib... ORPHA:79322
Igg4-Related Ophthalmic Disease
Keratitis, Sinusitis, Sialadenitis, Pancreatitis, Orchitis, Prostatitis, Abnormality of the kidne... ORPHA:449563
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Renal insufficiency, Res... ORPHA:79327
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate level, Elevated circulating... OMIM:619048
Propionic Acidemia
Organic aciduria, Hepatomegaly ORPHA:35
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Central sleep apnea, Respiratory failure, Hepatic steatosis, Obstructiv... ORPHA:70472
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Hydronephrosis, Asplenia ORPHA:210122
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Pfapa Syndrome
Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Nephrolithiasis, Hepatic failure, Cirrhosis, Hematuria, Cholecystitis, Portal hyp... ORPHA:774
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Renal agenesis, Abnormality of endocrine pancreas p... ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatomegaly, Hepatic failure OMIM:617872
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Ascites, Hepatomegaly, Abnormal large intestine morphology ORPHA:2198
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Elevated hepatic transaminase, Intrahep... OMIM:235555
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Respiratory failure ORPHA:363400
Neuromyelitis Optica Spectrum Disorder
Functional abnormality of the bladder, Myelitis, Optic neuritis, Respiratory failure ORPHA:71211
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... OMIM:602522
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Anemia, Neutropenia, Splenomegaly OMIM:602079
Perlman Syndrome
Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly, High, narrow palate ORPHA:2849
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Pentalogy Of Cantrell
Renal agenesis, Hypospadias, Renal dysplasia, Absent gallbladder, Polysplenia ORPHA:1335
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency ORPHA:28
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Jaundice, Cleft palate, Splenomegaly, Hepatosplenomegaly, Renal cyst, Renal cortica... OMIM:614866
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Urinary incontinence ORPHA:512
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S... OMIM:612714
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate, Hepatic failure, Steatorrhea, P... ORPHA:470
Birt-Hogg-Dube Syndrome
Renal neoplasm, Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Colon cancer OMIM:135150
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypospadias, Bifid uvula, Abnormality of ... OMIM:222470
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Joubert Syndrome 7
Episodic tachypnea, Nephronophthisis, Central apnea, Tachypnea, Renal cyst, Neonatal breathing dy... OMIM:611560
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Trisomy X
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Niemann-Pick Disease, Type C2
Hepatomegaly, Jaundice, Splenomegaly, Respiratory insufficiency, Death in childhood, Death in inf... OMIM:607625
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Abnormality of the ureter, Abn... ORPHA:1834
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Ascites, Hepatomegaly, Renal insufficiency ORPHA:2123
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Hydronephro... ORPHA:96092
Prune Belly Syndrome
Urogenital sinus anomaly, Anal atresia, Intestinal atresia, Intestinal malrotation, Abnormality o... ORPHA:2970
Genitopalatocardiac Syndrome
Hypospadias, Multicystic kidney dysplasia, Abnormality of the gallbladder, Abnormality of mesente... ORPHA:2075
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Incre... OMIM:618892
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Death in childhood, El... OMIM:610333
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Hereditary Elliptocytosis
Cholelithiasis, Jaundice, Splenomegaly, Prolonged neonatal jaundice ORPHA:288
Say Syndrome
Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate OMIM:181180
Cholelithiasis, Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone ... ORPHA:97278
Peroxisome Biogenesis Disorder 2A (Zellweger)
Apnea, Intrauterine growth retardation, Hepatomegaly, Jaundice, Aminoaciduria, Hypoplasia of the ... OMIM:214110
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Hepatomegaly OMIM:614741
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Jeune Syndrome
Nephronophthisis, Short stature, Respiratory insufficiency, Nephropathy, Renal insufficiency, Abn... ORPHA:474
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:612526
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Cryptorchidism, Decreased testicular size, Micropenis OMIM:300534
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:822
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Right vent... OMIM:613404
Congenital Disorder Of Glycosylation, Type Ia