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, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Cirrhosis, Hepatic steatosis ORPHA:209919
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Congenital Bile Acid Synthesis Defect Type 3
Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi... ORPHA:79302
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev... OMIM:619662
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Meckel Syndrome, Type 3
Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation OMIM:607361
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis OMIM:601466
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:620357
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:618400
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Hepatic steatosis, Elevated circulating hepatic transaminase concentration OMIM:616829
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:301045
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology ORPHA:438274
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Hyperbiliverdinemia
Decreased liver function, Cholestasis, Cholelithiasis OMIM:614156
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Protoporphyria, Erythropoietic, X-Linked
Elevated circulating hepatic transaminase concentration, Cholelithiasis OMIM:300752
Gracile Syndrome
Elevated hepatic iron concentration, Cirrhosis, Cholestasis, Hepatic steatosis ORPHA:53693
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Glycogen Storage Disease Vi
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen... OMIM:232700
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:79084
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Cholestasis, Benign Recurrent Intrahepatic, 2
Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly OMIM:605479
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis ORPHA:436182
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Splenomegaly, Cholelithiasis OMIM:224100
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten... OMIM:208540
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H... ORPHA:209902
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content ORPHA:293964
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc... ORPHA:562639
Meckel Syndrome, Type 6
Bile duct proliferation, Cystic liver disease, Absent gallbladder, Hepatic cysts, Hepatic fibrosis OMIM:612284
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ... ORPHA:69663
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Mirizzi Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ... ORPHA:521219
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani... OMIM:618528
Meckel Syndrome, Type 7
Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Hepatosplenomegaly,... OMIM:267010
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Lambert Syndrome
Intrahepatic biliary atresia, Jaundice OMIM:245550
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619048
Caroli Syndrome
Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:480520
Infantile Liver Failure Syndrome 3
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... OMIM:618641
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Hepatic steatosis OMIM:606069
Lipodystrophy, Partial, Acquired, Susceptibility To
Polycystic ovaries, Hepatic steatosis OMIM:608709
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis OMIM:615703
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography... ORPHA:90003
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis OMIM:615119
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hepatic steatosis, Hepatic failure OMIM:617872
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Acquired Partial Lipodystrophy
Hepatic steatosis ORPHA:79087
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase... OMIM:615438
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatic steatosis, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Autosomal Erythropoietic Protoporphyria
Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis ORPHA:26792
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis OMIM:618955
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:369840
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Periportal fibrosis, Portal hypertension, Elevated circulating alanine a... OMIM:278000
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome... ORPHA:79303
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:64743
Dubin-Johnson Syndrome
Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly ORPHA:234
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Macrovesicular hepatic steatosis OMIM:618234
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Bile duct proliferation, Elevated circulating hepatic transaminase conc... OMIM:618329
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:619386
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:369
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis OMIM:613877
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Portal hypertension, Biliary tract abnormality, Splenomegaly, ... ORPHA:1414
Glycogen Storage Disease Ixb
Increased muscle glycogen content, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Ele... OMIM:614582
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicular hepatic ste... OMIM:600649
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis OMIM:613470
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute... ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Meckel Syndrome, Type 4
Bile duct proliferation OMIM:611134
Akt2-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:79085
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure OMIM:177000
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Inc... OMIM:261680
D-Bifunctional Protein Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro... OMIM:261515
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Cholelithiasis ORPHA:309108
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:619013
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Portal hypertension, Biliary hyperplasia... ORPHA:731
Hardikar Syndrome
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... OMIM:301068
Liver Failure, Infantile, Transient
Jaundice, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatos... OMIM:613070
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Bardet-Biedl Syndrome 19
Hepatic steatosis OMIM:615996
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul... OMIM:615595
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatomegaly, Hepatic steatosis ORPHA:363400
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h... OMIM:203700
Spherocytosis, Type 1
Jaundice, Splenomegaly, Cholelithiasis OMIM:182900
Ddost-Cdg
Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:300536
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Elevated circulating alanine aminotransferase concentration, Prolonged neona... OMIM:619481
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Pheochromocytoma, Nodular goiter, Primary hyperparathyroidism ORPHA:1332
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:201450
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro... OMIM:251880
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis OMIM:235700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Bile duct proliferation, Polycystic liver disease, Hepatic fibrosis, Pancreatic fibrosi... OMIM:208500
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Reduced muscle carnitine level, Decreased carniti... OMIM:212140
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia ORPHA:565899
Hypermethioninemia Due To Adenosine Kinase Deficiency
Cholestasis, Hepatic steatosis, Portal fibrosis, Elevated circulating alanine aminotransferase co... OMIM:614300
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Macrocephaly-Intellectual Disability-Autism Syndrome
Hepatic steatosis ORPHA:210548
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Hepatic steatosis ORPHA:70472
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:615381
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis OMIM:615980
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:605911
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, De... OMIM:610198
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration... OMIM:615486
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamin... ORPHA:42
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Polycystic ovaries OMIM:604367
Citrullinemia, Type Ii, Neonatal-Onset
Cirrhosis, Intrahepatic cholestasis, Macrovesicular hepatic steatosis, Portal fibrosis, Microvesi... OMIM:605814
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Hepatic steatosis, Periportal fibrosis OMIM:201475
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:255120
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Elevated circulating hepatic transaminase con... ORPHA:264580
Chylomicron Retention Disease
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Increased hepatocellu... ORPHA:71
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steat... OMIM:256810
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis OMIM:266200
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic... ORPHA:541423
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic... ORPHA:228305
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot... OMIM:617093
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hepatitis OMIM:194380
Immunodeficiency 47
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Accessory splee... OMIM:300972
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Cho... OMIM:613658
Cranioectodermal Dysplasia 2
Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit... OMIM:613610
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:79083
Beta-Thalassemia
Hepatomegaly, Hepatitis, Splenomegaly, Cholelithiasis ORPHA:848
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:619525
Dpm1-Cdg
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hepati... ORPHA:79322
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, ... OMIM:614921
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:2348
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Hepatomegaly, Hepatic steatosis ORPHA:435660
Liver Disease, Severe Congenital
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:619991
Congenital Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Hepatic steatosis, Polycystic ovaries ORPHA:528
Osteootohepatoenteric Syndrome
Portal fibrosis, Microvesicular hepatic steatosis, Cholestasis, Prolonged neonatal jaundice, Hepa... OMIM:619377
Cirrhosis, Familial
Cirrhosis, Jaundice, Fulminant hepatitis, Biliary cirrhosis, Micronodular cirrhosis OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Hepati... OMIM:611126
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ... ORPHA:231222
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hepatic steatosis ORPHA:52430
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi... OMIM:615710
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, In... ORPHA:98907
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steatosis ORPHA:298
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:212138
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Hepatomegaly, Hepatic steatosis OMIM:614922
Citrullinemia Type Ii
Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentration, Hepatocellul... ORPHA:247585
Cimdag Syndrome
Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis OMIM:619273
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic steatosis, Hepatic periportal necrosis OMIM:231680
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Accessory spleen, Microvesicular hepatic stea... OMIM:619418
Cystic Echinococcosis
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... ORPHA:400
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Acquired Generalized Lipodystrophy
Cirrhosis, Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Hepatic steatosis ORPHA:79086
Combined Immunodeficiency-Enteropathy Spectrum
Abnormal ductus choledochus morphology, Hepatitis, Hypoplasia of the thymus, Peritoneal abscess ORPHA:436252
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Sple... OMIM:610717
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Biliary tract neoplasm, Cholecystitis, Extrahep... ORPHA:100086
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr... ORPHA:171
Glycogen Storage Disease Vii
Increased muscle glycogen content, Jaundice, Cholelithiasis OMIM:232800
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:99901
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism ORPHA:83617
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Pancreatitis, Hepatic steatosis OMIM:236200
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Elevated circulating alanine aminotr... OMIM:614924
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transaminase concentration, Incr... ORPHA:98908
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreatitis, Portal... OMIM:619487
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis OMIM:210200
Nephronophthisis 13
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:614377
Meckel Syndrome, Type 1
Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Cryptorchidism, Malformation o... OMIM:249000
Familial Chylomicronemia Syndrome
Jaundice, Acute pancreatitis, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis ORPHA:444490
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hepatic steatosis ORPHA:254346
Sialuria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple... ORPHA:3166
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration ORPHA:348
Seckel Syndrome 10
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Elevated circula... OMIM:617253
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated circulating hepatic transami... ORPHA:71212
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent... OMIM:608836
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Intrahepatic bile duct dilatation, Anterior pituitary hypoplas... OMIM:619534
Dysbetalipoproteinemia
Acute pancreatitis, Hepatomegaly, Hepatic steatosis ORPHA:412
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas... ORPHA:456312
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:445038
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis OMIM:160900
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis OMIM:620601
Senior-Loken Syndrome 8
Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts OMIM:616307
Fanconi-Bickel Syndrome
Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, Abnormal hepatic glyc... ORPHA:2088
Lipodystrophy, Congenital Generalized, Type 4
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenom... OMIM:613327
Mitochondrial Trifunctional Protein Deficiency
Chronic hepatic failure, Cholestasis, Hypoparathyroidism, Diffuse hepatic steatosis ORPHA:746
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Cholelithiasis, Biliary tract obstruction, Splenic infarction, Portal hy... ORPHA:77259
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Progeria-Short Stature-Pigmented Nevi Syndrome
Hepatic steatosis, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration ORPHA:2959
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis ORPHA:436271
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Exocrine pancreatic insufficiency, Hepatic fibrosis, Pancreatic fibrosis, Hepatic s... OMIM:616263
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenomegaly OMIM:603903
Fanconi Anemia, Complementation Group Q
Biliary atresia OMIM:615272
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancr... ORPHA:93111
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,... ORPHA:100085
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:212065
Ppoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97278
Monosomy 13Q34
Hepatic steatosis ORPHA:96168
Alpha-Thalassemia
Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism ORPHA:846
Wilson Disease
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Hypoparathyroidism, Hepatocellular carcinoma,... OMIM:277900
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic steatosis, Hepatic calcification, Hepatic failure ORPHA:228308
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Pancreatitis, Splenomegaly, Polycystic ovaries, Hepatic steatosis ORPHA:280365
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bilate... ORPHA:66634
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis OMIM:616271
Bare Lymphocyte Syndrome, Type Ii
Biliary tract abnormality, Cholangitis, Viral hepatitis OMIM:209920
Senior-Boichis Syndrome
Cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Portal hypertens... ORPHA:84081
Glycogen Storage Disease Xii
Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating alanine aminotransferase concentrati... OMIM:611881
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Macronodular adrenal hyperplasia, Pituitary adenoma, Hepatic steatosis, Primary hyperparathyroidism ORPHA:189427
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, P... OMIM:124000
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hepatomegaly, Increased hepatocellular lipid droplets, Increased intram... OMIM:220110
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure OMIM:614886
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:615356
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Macrovesicular hepatic steatosis, Splenomegaly OMIM:617303
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati... OMIM:608594
16P12.1P12.3 Triplication Syndrome
Abnormal intrahepatic bile duct morphology, Decreased response to growth hormone stimulation test... ORPHA:485405
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Acute pancreatit... ORPHA:20
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Polycystic ovaries, Hepatomegaly, Hepatic steatosis OMIM:151660
Hereditary Spherocytosis
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly ORPHA:822
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep... ORPHA:247598
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic fibrosi... ORPHA:14
Fructose Intolerance, Hereditary
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hepat... OMIM:229600
Pearson Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... ORPHA:699
Grfoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu... ORPHA:97261
Lysosomal Acid Lipase Deficiency
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Micr... ORPHA:275761
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis OMIM:620646
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis ORPHA:171876
Immunodeficiency 87 And Autoimmunity
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:619573
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati... OMIM:269700
Arima Syndrome
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Cirrhosis OMIM:243910
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Aromatase Deficiency
Macroorchidism, postpubertal, Cryptorchidism, Hepatic steatosis, Enlarged polycystic ovaries ORPHA:91
Alstrom Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Elevated circulating hepatic... OMIM:203800
Triosephosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis OMIM:615512
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Increased hepatic glycogen content, Hepatocel... ORPHA:79259
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increas... ORPHA:17
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, ... OMIM:175200
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Cholelithiasis, Asplenia OMIM:240300
Dehydrated Hereditary Stomatocytosis
Portal vein thrombosis, Intermittent jaundice, Splenomegaly, Cholelithiasis ORPHA:3202
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Splenomegaly, Cholelithiasis ORPHA:288
Lathosterolosis
Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase con... OMIM:607330
Bloom Syndrome
Cryptorchidism, Hepatic steatosis OMIM:210900
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology ORPHA:512
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Decreased testicular size, Cryptorchidism, Cholelithiasis OMIM:300534
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Microvesicular hepatic ste... ORPHA:404454
Distal Duplication 5Q
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis OMIM:618775
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hepatic steatosis, Splenomegaly, Hepatitis OMIM:615846
Sickle Cell Anemia
Jaundice, Cholelithiasis, Splenic infarction, Abnormality of the spleen, Pigment gallstones ORPHA:232
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Mosaic Trisomy 9
Cryptorchidism, Abnormal liver lobulation, Asplenia ORPHA:99776
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Hepatocellular necrosis OMIM:618278
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated hepatic iron concentration, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis OMIM:300868
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Hepatomegaly, Cholelithiasis, Hypoplastic nipples, Exocrine pancreatic ... OMIM:618268
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Splenomegaly, Cryptorchidism, Hepatic steatosis OMIM:270400
Turner Syndrome Due To Structural X Chromosome Anomalies
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99413
Turner Syndrome
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:881
Mosaic Monosomy X
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99228
Monosomy X
Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat... ORPHA:99226
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size OMIM:619321
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hepatic steatosis, Jaundice, Elevated circulating hepatic transaminase concentration OMIM:619475
Porphyria, Congenital Erythropoietic
Jaundice, Splenomegaly, Cholelithiasis, Hepatomegaly OMIM:263700
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:96092
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Annular pancreas, Asplenia ORPHA:210122
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus OMIM:619480
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Cryptorchidism, Pancreatitis, Splenic cyst OMIM:620371
Ogden Syndrome
Jaundice, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Decreased testicula... OMIM:300855
Cerebrotendinous Xanthomatosis
Cholelithiasis OMIM:213700
1P36 Deletion Syndrome
Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Cryptorchidism, Hepatic st... ORPHA:1606
Neurofibroma
Abnormal biliary tract morphology, Enlargement of parotid gland ORPHA:252183
Digeorge Syndrome
Cholelithiasis, Hypoplasia of the thymus, Parathyroid hypoplasia, Ovarian cyst, Splenomegaly, Hep... OMIM:188400
Basel-Vanagaite-Smirin-Yosef Syndrome
Cholelithiasis ORPHA:464738
Bardet-Biedl Syndrome
Elevated circulating hepatic transaminase concentration, Hypoplasia of the ovary, Decreased testi... ORPHA:110
Pentalogy Of Cantrell
Absent gallbladder, Polysplenia ORPHA:1335
Familial Adenomatous Polyposis
Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ... ORPHA:733
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:619127
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Splenomegaly, Neoplasm of the ... ORPHA:77293
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Pancreatic aplasia ORPHA:556955
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Small pituitary gland, Cholestasis, Thyroi... OMIM:619503
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom... ORPHA:797
Atypical Werner Syndrome
Ovarian neoplasm, Hepatic steatosis, Abnormal testis morphology ORPHA:79474
Cat Eye Syndrome
Biliary atresia OMIM:115470
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Exocrine... ORPHA:2255
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea... OMIM:618500
Gaucher Disease
Cirrhosis, Hepatomegaly, Cholelithiasis, Splenic infarction, Splenic rupture, Splenomegaly, Hepat... ORPHA:355
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Cyst of the ductus choledochus, Hypoplastic nipples ORPHA:480880
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis ORPHA:97297
Trisomy 8P
Annular pancreas, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder ORPHA:264450
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Increased circulating prolactin concentrat... ORPHA:3455
Steinfeld Syndrome
Absent gallbladder OMIM:184705
Renal Cysts And Diabetes Syndrome
Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Biliary tract abn... OMIM:137920
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Hepatic fibrosis ORPHA:2072
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology ORPHA:363618
Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism OMIM:300712
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets OMIM:220111
Cerebrotendinous Xanthomatosis
Prolonged neonatal jaundice, Cholelithiasis ORPHA:909
Hereditary Hemorrhagic Telangiectasia
Cirrhosis, Hepatic arteriovenous malformation, Cholelithiasis, Portal hypertension, Cholecystitis... ORPHA:774
Distal Deletion 12Q
Annular pancreas, Pituitary adenoma, Biliary atresia, Unilateral cryptorchidism ORPHA:96149
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Abdominal situs inversus OMIM:306955
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Cholelithiasis, Hypoplasia of the thymus, Splenomegaly, Cryptorchidism ORPHA:567
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism ORPHA:163979
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia OMIM:600001
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ... ORPHA:273
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder OMIM:617925
Trisomy 10P
Absent gallbladder ORPHA:171929
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder ORPHA:3186
Alström Syndrome
Cirrhosis, Hepatomegaly, Abnormal liver physiology, Elevated circulating hepatic transaminase con... ORPHA:64
Tetrasomy 9P
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism ORPHA:3310
Homozygous Familial Hypercholesterolemia
Hepatic steatosis ORPHA:391665
Zttk Syndrome
Absent gallbladder OMIM:617140
Williams Syndrome
Polycystic ovaries, Cryptorchidism, Cholelithiasis ORPHA:904
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder ORPHA:96176
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, He... ORPHA:79318
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder ORPHA:500150
Peters-Plus Syndrome
Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism OMIM:261540

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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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