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
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Malabsorpt... OMIM:602347
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Meckel Syndrome, Type 3
Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... OMIM:607361
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Tubulointerstitial fibrosis, Ren... OMIM:263200
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Campomelia, Cumming Type
Polycystic kidney dysplasia, Polysplenia, Pancreatic cysts, Polycystic liver disease OMIM:211890
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Abnormal tubulointerstitial morphology, Cholestatic liver disease, Nephro... OMIM:602114
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Senior-Loken Syndrome 8
Nephronophthisis, Hepatic cysts, Pancreatic cysts OMIM:616307
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Meckel Syndrome, Type 6
Cleft palate, Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease OMIM:612284
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Meckel Syndrome, Type 7
Pancreatic cysts, Bile duct proliferation, Multiple glomerular cysts, Stage 5 chronic kidney dise... OMIM:267010
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Nephronophthisis 3
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor... OMIM:604387
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnorma... ORPHA:3032
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ... OMIM:618061
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci... OMIM:619662
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Decreased liver function, Green urine, Cholelithiasis, Cholestasis OMIM:614156
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Short stature, Membranous nephropathy, Hepatic cysts, Colo... OMIM:618999
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... OMIM:600803
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts, Decreased glomerular filt... ORPHA:730
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst, Polycystic liver disease OMIM:174050
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infections, Polycystic kid... OMIM:613095
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst, Stillbirth OMIM:263630
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
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Meckel Syndrome, Type 2
Meningocele, Bile duct proliferation, Cleft palate, Renal cyst OMIM:603194
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis OMIM:213010
Nephronophthisis-Like Nephropathy 1
Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613159
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Hepatic fibrosis, Pancreatic cysts, Respiratory insufficiency, Short stature, B... OMIM:208500
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Elevate... ORPHA:480520
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Mirizzi Syndrome
Gallbladder perforation, Cholelithiasis, Pancreatitis, Dark urine, Cholesterol gallstones, Abnorm... ORPHA:521219
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Retinitis Pigmentosa 89
Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile... OMIM:618955
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Campomelia, Cumming Type
Hepatomegaly, Abnormal intestine morphology, Cleft palate, Pancreatic cysts, Abnormality of the p... ORPHA:1318
Nephronophthisis 9
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease OMIM:613824
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Fibrosclerosis, Multifocal
Abnormality of the liver, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis OMIM:228800
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Congenital hepatic fibrosis, Abnormal localization of kidney ORPHA:446
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract obstruction, ... ORPHA:69663
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Abnormal intestine morphology, Hepatic fibrosis, Cholestasis OMIM:609313
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis ORPHA:306550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Meckel Syndrome, Type 5
Abnormality of the urinary system, Bile duct proliferation, Cleft palate OMIM:611561
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Howell-Jo... OMIM:613759
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Caroli Disease
Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Li... ORPHA:53035
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Hepatic cysts, Stage 5 chronic kidney disease OMIM:613819
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Cholestasis, Enlarg... OMIM:615415
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,... OMIM:616629
Meckel Syndrome, Type 4
Meningocele, Bile duct proliferation, Cleft palate, Renal cyst OMIM:611134
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Ascites, Enlarged kidn... OMIM:200995
Alveolar Echinococcosis
Cholangitis, Pancreatic cysts, Abnormality of mesentery morphology, Hepatic cysts, Renal cyst, Co... ORPHA:284
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst OMIM:614870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... ORPHA:65682
Hemochromatosis, Neonatal
Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Cholestasis, Hepatic failure, Prolonged neo... OMIM:231100
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Coach Syndrome 2
Portal fibrosis, Hepatic fibrosis, Elevated hepatic transaminase, Congenital hepatic fibrosis, Hy... OMIM:619111
Immunodeficiency 56
Cholangitis, Bronchiectasis, Recurrent otitis media, Cirrhosis, Recurrent pneumonia, Hepatic fail... OMIM:615207
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Butyrylcholinesterase Deficiency
Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Senior-Loken Syndrome
Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian ... ORPHA:3156
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Nephronophthisis, Renal dysplasia, Ren... OMIM:266920
Senior-Boichis Syndrome
Renal hypoplasia, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal renal inst... ORPHA:84081
Glycogen Storage Disease Iv
Tubulointerstitial fibrosis, Cirrhosis, Hepatosplenomegaly, Hepatic failure, Portal hypertension OMIM:232500
Axial Osteomalacia
Renal cyst, Polycystic liver disease OMIM:109130
Von Hippel-Lindau Syndrome
Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Abnormality of the liver, Multi... OMIM:193300
Biliary Malformation With Renal Tubular Insufficiency
Generalized aminoaciduria, Renal tubular dysfunction, Glycosuria, Biliary hyperplasia, Aminoacidu... OMIM:210550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ethylmalonic aciduria, Microvesicular hepatic steatosis, Hepatomegaly, Bile duct proliferation, M... OMIM:203700
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Argininosuccinic ... OMIM:603471
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption OMIM:557000
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter, Renal cyst OMIM:138790
Hemochromatosis Type 4
Congenital hepatic fibrosis, Hepatic steatosis, Cirrhosis ORPHA:139491
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Giant cell hepatitis, Cholelithiasis, Jaundice OMIM:214980
Immune Deficiency Disease
Cholangitis, Fulminant hepatitis OMIM:242850
Hepatic Veno-Occlusive Disease
Hepatomegaly, Respiratory failure, Elevated hepatic transaminase, Renal insufficiency, Jaundice ORPHA:890
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Cryptorchidism, Renal insufficiency OMIM:613861
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Interface hepatitis, Granulomatous cholangitis, Choles... ORPHA:562639
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Decreased liver function, Cholelithiasis ORPHA:79278
Autoimmune Hepatitis
Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Fulminant hepa... ORPHA:2137
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Abnormality of the kidney OMIM:613730
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Portal hypertension, Liver abscess OMIM:600643
Nephronophthisis 11
Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ... OMIM:613550
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Proteinuria, Nephrotic syndrome OMIM:614196
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis ORPHA:466794
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Igg4-Related Thyroid Disease
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... ORPHA:64744
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Keratoconjunctivitis sicca, Hepatomegaly, Pancreatitis, Angular cheilitis, Sclerosing cholangitis... OMIM:260480
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Respiratory insufficiency, Neonatal death, Renal cyst, Respiratory failure OMIM:228940
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Respiratory distress, Renal ... OMIM:615993
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:256100
Aa Amyloidosis
Hepatomegaly, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephropathy, Chronic kidney d... ORPHA:85445
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Colitis, Chronic mucocutaneous candidiasis, Recurrent urina... OMIM:209920
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Ascites, Biliary tract obstruction, Hepatic cysts, Neoplasm of the liver, Intrahepa... ORPHA:100085
Rhyns Syndrome
Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis, Hypopituitarism ORPHA:140976
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Nephronophthisis, Multiple small medullary rena... OMIM:216360
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Immunodeficiency 92
Cholangitis, Hepatomegaly, Pneumonia, Esophagitis, Osteomyelitis, Sclerosing cholangitis OMIM:619652
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter, Multicystic kidney dysplasia ORPHA:2091
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis ORPHA:280356
Jaundice, Hypersplenism, Cholelithiasis, Splenomegaly ORPHA:846
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... OMIM:278000
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... OMIM:606966
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Steatorrhea, Pancreatic fibrosis OMIM:616263
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hepatic failure, Pr... OMIM:602579
Hardikar Syndrome
Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:301068
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Cholelithiasis, Jaundice OMIM:232800
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... ORPHA:79301
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst OMIM:605231
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Lacticaciduria, Pancreatitis, Hepatic steatosis, Elevated circulating alanine a... OMIM:619386
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis OMIM:232400
Martinez-Frias Syndrome
Hypospadias, Pancreatic hypoplasia, Annular pancreas, Extrahepatic biliary duct atresia, Hypoplas... OMIM:601346
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Orofaciodigital Syndrome I
Cleft palate, High palate, Pancreatic cysts, Hepatic fibrosis, Myelomeningocele, Tongue nodules, ... OMIM:311200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Hydronephrosis, Eczema, Pancreatic hypoplasia, Superficial dermal perivascular infl... ORPHA:83617
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Respiratory insufficiency, Nephronophthisis, Stage 5 chroni... OMIM:602088
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension OMIM:617068
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Adams-Oliver Syndrome 6
Renal hypoplasia, Portal hypertension, Hepatic fibrosis, Esophageal varix OMIM:616589
Arima Syndrome
Renal tubular atrophy, Occipital meningocele, Hepatomegaly, Hepatic fibrosis, Nephronophthisis, T... OMIM:243910
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Meckel Syndrome
Cleft palate, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Aplasia/Hypoplasia of the ... ORPHA:564
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Hepatomegaly, Death in infancy, Renal cyst OMIM:614862
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Ethylmalonic aciduria, Generalized aminoaciduria, Proximal tu... OMIM:231680
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Nephronophthisis 18
Renal tubular atrophy, Tubulointerstitial nephritis, Portal fibrosis, Nephronophthisis, Stage 5 c... OMIM:615862
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Joubert Syndrome 9
Stage 5 chronic kidney disease, Apnea, Hepatic fibrosis, Episodic tachypnea OMIM:612285
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hepatomegaly, High palate OMIM:614882
Lambert Syndrome
Jaundice, Hypospadias, Intrahepatic biliary atresia OMIM:245550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
D-Bifunctional Protein Deficiency
Fetal ascites, Hepatomegaly, High palate, Bile duct proliferation, Renal cyst, Splenomegaly, Hepa... OMIM:261515
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Erythrocytosis, Familial, 8
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:222800
Hepatomegaly ORPHA:244310
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Budd-Chiari Syndrome
Cirrhosis, Hepatocellular carcinoma OMIM:600880
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Hemochromatosis Type 2
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Elevated hepatic trans... ORPHA:79230
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyp... ORPHA:64743
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Displacement of the urethral meatus, Cryptorchidism, Hypoplasia of p... ORPHA:2377
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Biliary tract neoplasm, Acholic stools, Jaundice ORPHA:70567
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Hepatitis, Cholelithiasis, Splenomegaly, Jaundice OMIM:194380
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:85450
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death, Intrauterine growth retardation OMIM:301021
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Cholangitis, Jaundice OMIM:607626
Medullary cystic kidney disease 2
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... OMIM:603860
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cholangitis, Hepatitis, Cirrhosis, Hepatosplenomegaly, Hypersplenism, Acute hepatic failure, Thyr... ORPHA:228426
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Pneumonia, Bronchiect... ORPHA:183675
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Death in infancy, Respiratory insufficiency, Splenomegaly ORPHA:139406
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Depletion of mitochondrial DNA ... OMIM:251880
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis,... OMIM:618641
Psoriasis 14, Pustular
Cholangitis, Pustule, Psoriasiform dermatitis, Oligoarthritis OMIM:614204
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:266200
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis OMIM:231530
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:235700
Short Rib-Polydactyly Syndrome
Hypospadias, Intrauterine growth retardation, Hepatic fibrosis, Nephronophthisis, Hepatic cysts, ... ORPHA:1505
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis OMIM:601539
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholangitis, Tubulointerstitial nephritis, Decreased liver func... OMIM:124000
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly ORPHA:1980
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Intrauterine growth retardation, Duplicated collecting system, Decreased liver fu... OMIM:617093
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Nephrolithiasis, Renal ... OMIM:145001
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Methylmalonic aciduri... OMIM:245400
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... OMIM:214900
Pearson Syndrome
Neutropenia, Splenomegaly, Steatorrhea, Pancytopenia, Renal cyst, Bone marrow hypocellularity, He... ORPHA:699
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Short stature, Splenome... OMIM:609981
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... ORPHA:449395
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Lymphoid Interstitial Pneumonia
Wheezing, Hepatomegaly, Hypoxemia, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ... ORPHA:79128
Alagille Syndrome 2
Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Cholestatic liver disease, Chole... OMIM:610205
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Splenomegaly OMIM:182900
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Hepatic calcification, Ureteral duplication, Hydronephrosis, Respiratory insufficie... OMIM:608836
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Abnormal urinary colo... ORPHA:234
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Glossoptosis, Jaundice OMIM:614876
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Intestinal malrotation, Polycy... OMIM:263520
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Hepatomegaly, Death in infancy, Respiratory insufficiency OMIM:614299
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste... OMIM:301045
Cystic renal dysplasia, Intrauterine growth retardation, Respiratory insufficiency, Nephrogenic r... OMIM:608022
Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension, Protein-losing ent... ORPHA:79319
Bardet-Biedl Syndrome 4
Cryptorchidism, Renal cyst, Abnormality of the kidney OMIM:615982
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Sickle Cell Anemia
Hepatomegaly, Hematuria, Cholelithiasis, Splenomegaly, Renal insufficiency, Jaundice OMIM:603903
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Hepatomegaly, Death in infancy, Infectious encephalitis, Intrauterine growth retarda... ORPHA:1194
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Respiratory arrest, Hepatomegaly, Death in infancy, Hepatocellular necrosis, Tachypnea, Cardiomeg... OMIM:201475
Bardet-Biedl Syndrome
Hepatic fibrosis, Nephrotic syndrome, Hypoplasia of the ovary, Multicystic kidney dysplasia, Cryp... ORPHA:110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis OMIM:619484
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Hepatomegaly, Hepatitis, Cholelithiasis, Splenomegaly ORPHA:848
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Abnormality of the urinary system physiology, Inf... ORPHA:2552
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Stomatitis, Hepatitis, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing chola... OMIM:308230
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Cleft palate, High palate, Portal fibrosis, Bile duct proliferation, R... OMIM:613610
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts, Eosinophilia, Lymphopenia, Anal atresia OMIM:617425
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Glycogen Storage Disease Xii
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:611881
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Esophag... ORPHA:370
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Nephronophthisis 12
Nephronophthisis, Stage 5 chronic kidney disease OMIM:613820
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Absent gallbladder, Biliary atresia, Cho... OMIM:615710
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Respiratory insufficiency, Short stature, Congenital hepatic fibrosis, Renal cyst, M... ORPHA:2031
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Hepatomegaly ORPHA:2432
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Esophagitis, Dup... ORPHA:541423
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... OMIM:606003
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Alport Syndrome
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... ORPHA:63
Interstitial Lung And Liver Disease
Hepatomegaly, Hypoxemia, Hepatic fibrosis, Respiratory insufficiency, Cough, Cirrhosis, Hepatic s... OMIM:615486
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria ORPHA:67046
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellular carcinoma, ... ORPHA:231222
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Aminoaciduria, Proteinuria OMIM:618913
Meckel Syndrome, Type 1
Cleft palate, Malformation of the hepatic ductal plate, Abnormality of the ureter, Asplenia, Rena... OMIM:249000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Rhinitis, Chronic mucocutaneous candidiasis, Skin rash, Chronic hepatitis due to crypt... ORPHA:572
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Hydronephrosis, Death in infancy, Hydroureter OMIM:618240
Cirrhosis, Familial
Cirrhosis, Chronic active hepatitis, Hepatitis OMIM:118900
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the urinary system, Cough, Respiratory failure, Dyspnea, Respiratory failure requi... ORPHA:90117
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Short stature, Decrea... OMIM:232200
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Cirrhosis, Elevated circulating aspartate amino... ORPHA:90003
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Tuberous Sclerosis Complex
Pheochromocytoma, Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease... ORPHA:805
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure OMIM:614886
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Donohue Syndrome
Intrauterine growth retardation, Hepatic fibrosis, Long penis, Pancreatic islet-cell hyperplasia,... OMIM:246200
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Prostatitis, Abnormal pancreas morphology, Retro... ORPHA:449432
Cranioectodermal Dysplasia 1
Hepatomegaly, High, narrow palate, High palate, Malformation of the hepatic ductal plate, Hepatic... OMIM:218330
Von Hippel-Lindau Disease
Adrenal pheochromocytoma, Pancreatic islet cell adenoma, Pancreatic cysts, Renal cell carcinoma, ... ORPHA:892
Indomethacin Embryofetopathy
Respiratory insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephro... ORPHA:1909
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi... OMIM:619377
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase... OMIM:619525
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Thomas Syndrome
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Cleft palate, High palate, Hepatic fibrosis, Ascites, Renal cyst, ... OMIM:614091
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Macrovesicular hepatic steatosis, Cholesterol gallstones, Hep... ORPHA:209902
Cholesteryl Ester Storage Disease
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice ORPHA:75234
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Hepatic fibrosis, Ascites, Glomerular sclerosis, Stage 5 chronic kidney disease, Le... OMIM:619487
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Short stature, Decrea... OMIM:232220
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Intestinal malrotation, Abnormality of t... ORPHA:436252
Fanconi Anemia, Complementation Group O
Cryptorchidism, Renal cyst, Stage 5 chronic kidney disease, Hydronephrosis OMIM:613390
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Renal tubular a... ORPHA:264580
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Hepatomegaly, Death in infancy, Intrauterine growth retardation OMIM:610678
Orofaciodigital Syndrome Type 1
Hydronephrosis, Cleft palate, High palate, Pancreatic cysts, Hamartoma of tongue, Tongue nodules,... ORPHA:2750
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Villous atrophy, Abnormal renal artery morphol... ORPHA:79328
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hepatomegaly, Lacticaciduria, Glutaric aciduria, Decreased liver function,... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Ade... ORPHA:171
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the spleen, Abnormality of the ureter, Respiratory insufficiency ORPHA:2487
Peroxisome Biogenesis Disorder 11A (Zellweger)
Decreased liver function, Renal cyst, Multiple renal cysts, Elevated hepatic transaminase OMIM:614883
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Death in infancy, Pancreatic cysts, Short stature, Seborrheic dermatitis, Axial... OMIM:274000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease ORPHA:79095
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal hypoplasia, Death in infancy, Renal tubular acidosis, Renal dysplasia, Renal ... OMIM:614922
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Enlarged polycystic ovarie... ORPHA:90301
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Cholestasis, Hepatic failure, Abnormal mitochondrial morphology, Elevated hepatic t... OMIM:618528
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neph... OMIM:617303
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Bifid uvula OMIM:619480
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Cryptorchidism, Respiratory insufficiency due to muscle weakness, Neonatal d... OMIM:611890
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis ORPHA:79084
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Elevated hepatic transaminase, Thr... OMIM:300972
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Growth delay, Apnea, Respiratory failure, 3-Methylglutaconic aciduria OMIM:617248
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Absent g... OMIM:156810
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Portal fibrosis, Pancrea... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Severe short statur... OMIM:619057
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Asplenia, Nephrocalcinosis, Cholelithiasis, Prematu... OMIM:240300
Developmental And Epileptic Encephalopathy 36
Hepatomegaly OMIM:300884
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Multiple glomerular cysts, Renal cyst, Neph... OMIM:137920
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hydronephrosis, Hypoplastic nipples, Short stature, Renal dysplas... ORPHA:480880
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Esophageal varix, Ascites, Bile duct proliferation, Intestinal malrotation, Cirrhosi... OMIM:613658
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Glomerular scle... OMIM:276700
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neoplasm of the liver, S... ORPHA:1454
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... OMIM:619463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Ascites, C... ORPHA:186
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Intrauterine growth retardation, Short stature, Gout, Renal c... OMIM:617056
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Hepatic fibrosis, Hepatocellular carcinoma, Renal tubular acidosis, ... ORPHA:79240
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Short stature, Stillbirth, Splenomegaly, Absence of renal corticomedu... OMIM:259720
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Cholelithiasis ORPHA:3166
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Restrictive ventilatory defect, Crackles, Cardiomegaly, Cough, Hepatosplenomegaly, ... ORPHA:99931
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Nephrotic syndrome, Proximal tubulopathy, Renal cyst, Hepatic ste... OMIM:212065
Lambert Syndrome
Jaundice, Hypospadias, Cholestasis, Intrahepatic biliary atresia ORPHA:1296
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly OMIM:618224
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice OMIM:613977
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis OMIM:243300
Peutz-Jeghers Syndrome
Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Neoplasm of the rectum, Esophage... ORPHA:2869
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Ureteral agenesis OMIM:236500
Dominant Beta-Thalassemia
Hypoparathyroidism, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Sp... ORPHA:231226
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Arthrogryposis Multiplex Congenita 6
Hypospadias, Death in infancy, Neonatal death, Death in childhood, Respiratory failure OMIM:619334
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Enuresis, Pancreatitis, Hepatic steatos... ORPHA:247585
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea, Intrauterine growth retardation ORPHA:1832
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618549
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Cholestasis, Jaundice OMIM:614887
Genitopalatocardiac Syndrome
Hypospadias, Cleft palate, Renal cyst OMIM:231060
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Short stature, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicou... ORPHA:1166
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Splenomegaly, Anterior pituitary hypoplasia, Medullary nephrocalcinosis, Prolon... OMIM:619534
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Hepatic necrosis, Dicarboxylic aciduria, Hepatic steatosis, Acute hepatic failure,... ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 4
Hepatocellular carcinoma, Cirrhosis, Hepatic failure, Intrahepatic cholestasis, Portal hypertension OMIM:615878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Short stature, Increased hepatic glycogen content, Tubuloint... ORPHA:79259
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Gapo Syndrome
Tubulointerstitial fibrosis, Hepatomegaly, Breast hypoplasia, Hypoplastic nipples OMIM:230740
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
3-Methylglutaconic Aciduria Type 7
Growth delay, Nephrocalcinosis, Pneumothorax, Renal cyst, Hepatic steatosis, Respiratory failure,... ORPHA:445038
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma... ORPHA:231214
Avian Influenza
Productive cough, Hypoxemia, Infectious encephalitis, Pneumonia, Tachypnea, Pneumothorax, Hepatit... ORPHA:454836
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Periportal fibrosis OMIM:263210
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Budd-Chiari Syndrome
Hepatomegaly, Esophageal varix, Ascites, Peritonitis, Malabsorption, Splenomegaly, Cirrhosis, Int... ORPHA:131
Distal Trisomy 5Q
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism ORPHA:96097
Propionic Acidemia
Hepatomegaly, Organic aciduria ORPHA:35
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly ORPHA:42642
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Cleft palate, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegaly, Hepatosple... OMIM:614866
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Retroperitoneal fibro... ORPHA:449563
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Cryptorchidism, Micropenis, Respiratory insufficiency ORPHA:370968
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Central sleep apnea, Decreased liver function, Hepatic steatosis, Respir... ORPHA:70472
Joubert Syndrome 20
Renal cyst, Respiratory insufficiency OMIM:614970
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Hydronephrosis, Asplenia, Annular pancreas ORPHA:210122
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine amino... OMIM:619048
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Cholecystitis, Splenomegaly OMIM:615512
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Functional abnormality of the bladder, Myelitis, Optic neuritis ORPHA:71211
Vacterl Association With Hydrocephalus
Respiratory failure, Renal hypoplasia, Stillbirth, Respiratory insufficiency OMIM:276950
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, R... OMIM:602522
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic failure, Hepatic steatosis OMIM:617872
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Abnormal large intestine morphology, Ascites ORPHA:2198
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly OMIM:610717
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Anemia, Neutropenia, Splenomegaly OMIM:602079
Hereditary Hemorrhagic Telangiectasia
Hematuria, Cholelithiasis, Nephrolithiasis, Cirrhosis, Hepatic failure, Cholecystitis, Portal hyp... ORPHA:774
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Hypospadias, Horseshoe kidney, Re... ORPHA:93111
Hepatomegaly, High, narrow palate, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Eleva... ORPHA:79322
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Steatorrhea, Hepatic failure, Intrahep... OMIM:235555
Trichohepatoenteric Syndrome 1
Hypospadias, Hepatomegaly, Villous atrophy, Hepatic fibrosis, Bifid uvula, Abnormality of the pan... OMIM:222470
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency ORPHA:28
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Respiratory failure, Hepatomegaly ORPHA:363400
Perlman Syndrome
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, High, narrow palate ORPHA:2849
Nephrotic syndrome, Decreased liver function, Respiratory failure, Renal insufficiency, Abnormali... ORPHA:79327
Pentalogy Of Cantrell
Hypospadias, Renal agenesis, Renal dysplasia, Absent gallbladder, Polysplenia ORPHA:1335
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Urinary incontinence, Neoplasm of the gallbladder, Hemobilia ORPHA:512
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Birt-Hogg-Dube Syndrome
Renal cell carcinoma, Renal cyst, Large intestinal polyposis, Renal neoplasm, Colon cancer OMIM:135150
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Cleft palate, Renal cyst OMIM:614175
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Anemia of inadequate production, Exocrine pancre... OMIM:612714
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Intrauterine growth retardation, Aminoaciduria, Hypoplasia of the thymus, Apnea, In... OMIM:214110
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Genitopalatocardiac Syndrome
Hypospadias, Abnormality of the gallbladder, Abnormality of mesentery morphology, Multicystic kid... ORPHA:2075
Joubert Syndrome 7
Central apnea, Tachypnea, Nephronophthisis, Renal cyst, Episodic tachypnea, Neonatal breathing dy... OMIM:611560
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal hypoplasia/aplasia, Renal insufficiency, Ascites ORPHA:2123
Trisomy X
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3375
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Prolonged neonatal jaundice, Incre... OMIM:618892
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Hepatospl... OMIM:610333
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Carcinoid Syndrome
Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Leber Congenital Amaurosis 1
Hepatomegaly, Hyperthreoninuria OMIM:204000
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly ORPHA:288
Sickle Cell Anemia
Abnormality of the spleen, Pigment gallstones, Cholestasis ORPHA:232
Bardet-Biedl Syndrome 1
Abnormality of the ovary, High, narrow palate, High palate, Aganglionic megacolon, Hepatic fibros... OMIM:209900
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Abnormal intestine morphology, Abnormality of the ureter, Hydronephros... ORPHA:1834
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Aplasia/Hypoplasia of the gallbladder, Micrope... ORPHA:96092
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Say Syndrome
Cystic renal dysplasia, Cleft palate, Proximal renal tubular acidosis OMIM:181180
Jeune Syndrome
Respiratory insufficiency, Short stature, Nephronophthisis, Abnormality of the liver, Nephropathy... ORPHA:474
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Organic aciduria OMIM:614741
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Micropenis, Decreased testicular size, Cholelithiasis OMIM:300534
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Increased circulating gonadotropin level,... ORPHA:97278
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly ORPHA:822
Dehydrated Hereditary Stomatocytosis 2