Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
reticulon 4 receptor-like 1
Synonyms:
Ngr3,  Ngrl2,  Ngrh2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rtn4rl1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rtn4rl1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Combined Oxidative Phosphorylation Deficiency 19
Hepatic steatosis OMIM:615595
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis ORPHA:209919
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Nphp3-Related Meckel-Like Syndrome
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology ORPHA:3032
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated hepatic transaminase OMIM:618400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:616829
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Hemochromatosis Type 4
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis ORPHA:139491
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Combined Oxidative Phosphorylation Deficiency 34
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Adrenomyodystrophy
Hepatic steatosis, Pituitary corticotropic cell adenoma OMIM:300270
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Polycystic ovaries, Pancreatitis ORPHA:79084
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Decreased liver function, Elevated hepatic transaminase OMIM:617093
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Bile duct proliferation, Hepatomegaly, Asplenia... OMIM:208540
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Gracile Syndrome
Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration, Cholestasis ORPHA:53693
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:610717
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease, Pancreatitis,... ORPHA:65682
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Decreased liver function, Portal fibrosis, Elevated hepatic trans... OMIM:614300
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Acute hepatic steatosis, Hepatitis, Macro... ORPHA:209902
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis, Hepatic cysts OMIM:612284
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Gra... ORPHA:562639
African Iron Overload
Viral hepatitis, Hepatic steatosis, Hepatic bridging fibrosis, Peritonitis, Abnormal pancreas mor... ORPHA:139507
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:619048
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
Hemochromatosis, Type 4
Cirrhosis, Hepatic steatosis, Hepatomegaly OMIM:606069
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Inflammatory Pseudotumor Of The Liver
Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, Elevated ... ORPHA:90003
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Giant cell hepatitis, Jaundice OMIM:214980
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Decreased liver function ORPHA:79278
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Pan... OMIM:618805
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:264470
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615438
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:369840
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Dubin-Johnson Syndrome
Biliary tract abnormality, Abnormality of the liver, Hepatomegaly, Jaundice ORPHA:234
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fibrosis, Splenomegaly, Deple... OMIM:251880
Retinitis Pigmentosa 89
Micronodular cirrhosis, Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation OMIM:618955
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Elevated circulating alanine aminotransferase concentration, ... OMIM:278000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Prolonged neonatal jaundic... OMIM:256810
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Combined Oxidative Phosphorylation Deficiency 12
Macrovesicular hepatic steatosis, Hepatomegaly, Cholestasis OMIM:614924
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Ele... OMIM:614582
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Macrovesicular hepatic steatosis, Decreased liver function, Elevated hep... OMIM:618329
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Hepatomegaly OMIM:615238
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Jaund... ORPHA:64743
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Alpha-Thalassemia
Cholelithiasis, Hypersplenism, Splenomegaly, Jaundice ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Hepati... ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Decreased carnitine level in liver OMIM:212140
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Cholestasis, Cholan... ORPHA:731
Chanarin-Dorfman Syndrome
Hepatic steatosis, Hepatomegaly OMIM:275630
Hardikar Syndrome
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangitis, Bile duct pro... OMIM:301068
Akt2-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Polycystic ovaries ORPHA:79085
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:201450
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:600649
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Primary hyperparathyroidism, Abnormal liver parenchyma morphology ORPHA:1332
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice OMIM:182900
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hepatic steatosis, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:619013
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:255120
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Hepatomegaly ORPHA:586
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:266200
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Ddost-Cdg
Hepatic steatosis, Elevated hepatic transaminase ORPHA:300536
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jaundice, Pancreatic fibrosi... OMIM:208500
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Elevated hep... OMIM:261515
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Polycystic ovaries, Pancreatitis ORPHA:435651
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Decreased liver function ORPHA:70472
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Portal fibrosis, ... ORPHA:370
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Periportal fibrosis, Chronic hepatitis, Portal inflammation, ... ORPHA:101330
3-Methylglutaconic Aciduria, Type V
Cryptorchidism, Microvesicular hepatic steatosis, Decreased testicular size OMIM:610198
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Cryptorchidism, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615381
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:261680
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic tran... ORPHA:2137
Chylomicron Retention Disease
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase ORPHA:71
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Polycystic ovaries OMIM:604367
Mitchell-Riley Syndrome
Absent gallbladder, Cholestasis, Pancreatic hypoplasia, Biliary atresia, Acholic stools, Annular ... OMIM:615710
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Decreased liver function, Hepatomegaly, Hepatic steatosis ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Hepatic steatosis, Hepatocellular necrosis, Periportal fibrosis OMIM:201475
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:613610
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatic failure, Elevated hepatic transaminase, Hepatomegaly ORPHA:228305
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice, Hepatitis OMIM:194380
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Portal fibrosis, ... ORPHA:264580
Primary Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminas... ORPHA:541423
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice OMIM:232800
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly ORPHA:848
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:611881
Combined Oxidative Phosphorylation Deficiency 11
Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... OMIM:601346
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iiw
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Bile duct prolife... OMIM:619525
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Decreased liver fun... OMIM:613658
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Elevated hepatic transaminase OMIM:611126
Lipe-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Polycystic ovaries ORPHA:435660
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Polycystic ovaries ORPHA:528
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Congenital Disorder Of Glycosylation, Type It
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Chronic hepatitis... OMIM:614921
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis ORPHA:79322
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Hepatic periportal necrosis, Jaundice OMIM:231680
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:212138
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Portal fibrosis, Hepa... OMIM:619377
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Pancreatitis, Hepatocellular carc... ORPHA:247585
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated hepatic transaminase ORPHA:298
Meckel Syndrome, Type 1
Accessory spleen, Bile duct proliferation, Cryptorchidism, Splenomegaly, Asplenia, Malformation o... OMIM:249000
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Inter... ORPHA:100086
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Decreased liver function, Splenomeg... ORPHA:231222
Combined Immunodeficiency-Enteropathy Spectrum
Hypoplasia of the thymus, Abnormality of the ductus choledochus, Hepatitis, Peritoneal abscess ORPHA:436252
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Hepatomeg... ORPHA:400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Acquired Generalized Lipodystrophy
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Cirrhosis ORPHA:79086
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Giant cell hepatitis, Elevated hepatic transaminase, Cholestatic liver disease ORPHA:79095
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Cryptorchidism, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasia ORPHA:83617
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Neutral Lipid Storage Disease With Ichthyosis
Micronodular cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis ORPHA:98907
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Ele... OMIM:619487
Primary Sclerosing Cholangitis
Cholelithiasis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cirrhosis, Cholangiocarcino... ORPHA:171
Cimdag Syndrome
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly OMIM:619273
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice ORPHA:444490
Alstrom Syndrome
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Chronic active hepatitis, Decreas... OMIM:203800
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated hepatic transaminase ORPHA:99901
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, Portal hypertensi... OMIM:619534
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Cholestasis, Cholangitis, Decreased liver function, Elevated he... OMIM:124000
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, ... OMIM:212065
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hepatic steatosis ORPHA:254346
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Jaundice, Hepatitis, Abnormality of the ... ORPHA:186
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Splenomegaly, Hepatomegaly, Hepatic steatosis OMIM:613327
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy OMIM:160900
Dysbetalipoproteinemia
Acute pancreatitis, Hepatic steatosis, Hepatomegaly ORPHA:412
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated hepatic transaminase ORPHA:445038
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Aplasia/Hypoplasia of t... ORPHA:456312
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Hepatic steatosis, Elevated hepatic transaminase, Neoplasm of th... ORPHA:2959
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Pancreatic fibrosis OMIM:616263
Sialuria
Cholelithiasis, Hepatosplenomegaly, Elevated hepatic transaminase, Hepatomegaly ORPHA:3166
Sickle Cell Anemia
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:603903
Visceral Steatosis, Congenital
Hepatic steatosis, Jaundice OMIM:228100
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Diffuse hepatic steatosis, Hypoparathyroidism, Cholestasis ORPHA:746
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Ppoma
Cholelithiasis, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Increased ci... ORPHA:97278
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating alanine aminotransferase concentration, Lipid accumulation in hepatocytes, E... OMIM:608836
Seckel Syndrome 10
Acute pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentratio... OMIM:617253
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Diffuse hepatic steatosis, Decreased liver function, Hepatomegaly ORPHA:436271
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm of the liver... ORPHA:100085
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Jaundice, Elevated hepatic transa... ORPHA:93111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis ORPHA:280365
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hepatic steatosis, Primary hyperparathyroidism, Pituitary adenoma, Macronodular adrenal hyperplasia ORPHA:189427
Primary Pigmented Nodular Adrenocortical Disease
Hepatic steatosis, Testicular neoplasm, Elevated hepatic transaminase, Pituitary adenoma, Adrenal... ORPHA:189439
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Hepatic failure, Hepatic calcification, Hepatomegaly ORPHA:228308
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Elevated hepatic transaminase OMIM:614886
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Biliary tract abnormality, Cholangitis OMIM:209920
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Bilateral cryptorchidism ORPHA:66634
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly OMIM:243910
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Cholestasis ORPHA:232
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Elevated h... OMIM:608594
Hereditary Elliptocytosis
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Jaundice ORPHA:288
Neutral Lipid Storage Myopathy
Hepatic steatosis, Pineal cyst, Cholecystitis, Hepatomegaly, Chronic pancreatitis, Elevated hepat... ORPHA:98908
Grfoma
Cholelithiasis, Primary hyperparathyroidism, Hepatomegaly, Extrahepatic cholestasis, Increased ci... ORPHA:97261
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Hepatomegaly, Polycystic ovaries OMIM:151660
Hereditary Spherocytosis
Cholelithiasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:822
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:615356
Mucopolysaccharidosis-Plus Syndrome
Macrovesicular hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:617303
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Elevated h... OMIM:269700
Fructose Intolerance, Hereditary
Hepatic steatosis, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis OMIM:229600
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Increased hepatocellular lipid droplets, Decreased liver function, Hepatomegaly OMIM:220110
Abetalipoproteinemia
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis ORPHA:14
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Hepatic failure, Abnorm... ORPHA:699
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Female hypogonadism, Hypoparathyroidism, Asplenia, Chronic active hepatitis, Prem... OMIM:240300
Aromatase Deficiency
Cryptorchidism, Hepatic steatosis, Macroorchidism, postpubertal, Enlarged polycystic ovaries ORPHA:91
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatic steatosis, Hepatosplenomegaly, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic tran... ORPHA:247598
Gaucher Disease Type 1
Biliary tract obstruction, Splenomegaly, Hepatomegaly, Cirrhosis, Hypersplenism ORPHA:77259
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, Elevated hepatic t... ORPHA:20
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Triosephosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaundice OMIM:615512
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abnormality of t... ORPHA:485405
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:619573
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Fatal liver failure in inf... ORPHA:275761
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Polycystic ovaries, Increased hepatic glycogen content, Hepatomegaly, Pancreat... ORPHA:79259
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Cryptorchidism, Decreased testicular size OMIM:300534
Cat Eye Syndrome
Biliary atresia OMIM:115470
Distal Trisomy 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Cirrhosis ORPHA:774
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Intermittent jaundice, Splenomegaly ORPHA:3202
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:17
Mosaic Trisomy 9
Cryptorchidism, Abnormal liver lobulation, Asplenia ORPHA:99776
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples OMIM:618268
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Microvesicular hepatic steatosis, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of... ORPHA:404454
Microgastria-Limb Reduction Defects Association
Absent gallbladder, Splenogonadal fusion, Cryptorchidism, Biliary tract abnormality, Asplenia OMIM:156810
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, Ovarian cyst, Neoplasm of ... OMIM:175200
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic steatosis, Biliary cirrhosis, Abnormality of the ovary, Elevated hepatic transaminase, Ch... ORPHA:99413
Turner Syndrome
Hepatic steatosis, Biliary cirrhosis, Abnormality of the ovary, Elevated hepatic transaminase, Ch... ORPHA:881
Mosaic Monosomy X
Hepatic steatosis, Biliary cirrhosis, Abnormality of the ovary, Elevated hepatic transaminase, Ch... ORPHA:99228
Monosomy X
Hepatic steatosis, Biliary cirrhosis, Abnormality of the ovary, Elevated hepatic transaminase, Ch... ORPHA:99226
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Cholecystitis, Hepatosplenomegaly, Hepatomegaly OMIM:301066
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Elevated hepatic transaminase, Jaundice OMIM:619475
Digeorge Syndrome
Cholelithiasis, Hepatic steatosis, Parathyroid agenesis, Splenomegaly, Ovarian cyst, Hypoplasia o... OMIM:188400
Pentalogy Of Cantrell
Polysplenia, Absent gallbladder ORPHA:1335
1P36 Deletion Syndrome
Hepatic steatosis, Abnormality of the liver, Cryptorchidism, Abnormality of the spleen, Annular p... ORPHA:1606
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Decreased liver function, Splenomegaly, Hepatomegaly, Neoplasm o... ORPHA:77293
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:607330
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Familial Adenomatous Polyposis
Hepatoblastoma, Biliary tract obstruction, Cholangiocarcinoma, Neoplasm of the gallbladder, Pancr... ORPHA:733
Mandibuloacral Dysplasia Progeroid Syndrome
Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly OMIM:619127
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Biliary cirrhosis, Biliary tract obstruction OMIM:219721
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly OMIM:263700
Atypical Werner Syndrome
Abnormal testis morphology, Premature ovarian insufficiency, Hepatic steatosis, Ovarian neoplasm ORPHA:79474
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Sarcoidosis
Hepatic failure, Portal hypertension, Parotitis, Enlarged lacrimal glands, Decreased liver functi... ORPHA:797
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Small pituitary gland, Hepatic steatosis, Portal hypertension, Hepatosplenomegaly, Cholestasis, C... OMIM:619503
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hypoplastic nipples, Cyst of the ductus choledochus ORPHA:480880
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas ORPHA:97297
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Aplasia/Hypoplasia of the gallbladder, ... ORPHA:2255
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormality of the intrahepatic bile duct ORPHA:363618
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Abnormality of the spleen, Hepatic fibrosis ORPHA:2072
Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder OMIM:300712
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hepatic steatosis, Decreased response to growth hormone stimulation test, Increas... ORPHA:3455
Distal Monosomy 12Q
Annular pancreas, Unilateral cryptorchidism, Biliary atresia, Pituitary adenoma ORPHA:96149
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Elevated hepatic transaminase, Biliary ... OMIM:137920
Cerebrotendinous Xanthomatosis
Cholelithiasis, Prolonged neonatal jaundice ORPHA:909
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Absent gallbladder ORPHA:163979
22Q11.2 Deletion Syndrome
Cholelithiasis, Cryptorchidism, Splenomegaly, Hypoparathyroidism, Hypoplasia of the thymus ORPHA:567
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Opitz gbbb syndrome, type II
Cryptorchidism, Absent gallbladder OMIM:145410
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Trisomy 10P
Absent gallbladder ORPHA:171929
Steinert Myotonic Dystrophy
Cholelithiasis, Ovarian carcinoma, Testicular atrophy, Secondary hyperparathyroidism, Elevated he... ORPHA:273
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Abdominal situs inversus, Biliary atresia, Asplenia, Polysplenia OMIM:306955
Heart Defects, Congenital, And Other Congenital Anomalies
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia OMIM:600001
Alström Syndrome
Hyoplasia of the Leydig cells, Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Portal hyp... ORPHA:64
Zttk Syndrome
Absent gallbladder OMIM:617140
Tetrasomy 9P
Cryptorchidism, Absent gallbladder, Biliary atresia, Jaundice ORPHA:3310
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Pmm2-Cdg
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... ORPHA:79318
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism OMIM:261540
Williams Syndrome
Cholelithiasis, Cryptorchidism, Polycystic ovaries ORPHA:904
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rtn4rl1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rtn4rl1.

No publications found that use IMPC mice or data for Rtn4rl1.

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MGI Allele Allele Type Produced
Rtn4rl1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Rtn4rl1tm115403(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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