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Gene: Azgp1 MGI:103163

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
alpha-2-glycoprotein 1, zinc
Synonyms:
Zag

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 Azgp1 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 Azgp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content ORPHA:293964
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc... OMIM:619868
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat... OMIM:614480
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice OMIM:179700
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Galactosemia Iii
Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia OMIM:230350
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity, Increased adipose tissue, Hypertriglyceridemia ORPHA:71529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia OMIM:608320
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Ascites, Increased body weight, Hepatomegaly, Jaundice ORPHA:890
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg... OMIM:620010
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Red... OMIM:612526
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hepati... OMIM:615703
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity, Cardiomegaly ORPHA:88643
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ... OMIM:618963
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous... OMIM:271500
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,... OMIM:608971
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice ORPHA:172
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por... OMIM:616278
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Increased LDL cholesterol concentration, Hepatosplenomegaly, Splenomeg... OMIM:616828
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Lymphadenop... OMIM:603552
Wolman Disease
Hepatomegaly, Splenomegaly, Failure to thrive OMIM:620151
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi... OMIM:214900
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom... OMIM:615947
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... OMIM:616860
Obesity And Hypopigmentation
Overgrowth, Obesity, Hepatic steatosis OMIM:620195
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:86893
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen... OMIM:613313
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C... ORPHA:79301
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Immunodeficiency 48
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... OMIM:269840
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Follicular Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... ORPHA:545
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice ORPHA:75234
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly OMIM:306000
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Th... OMIM:209950
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Abnormality of the ... ORPHA:1414
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... OMIM:618620
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Cholestasis, Obesity, Childhood-onset truncal obesity, Increased adipose tissue ORPHA:71526
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... OMIM:235700
Cryohydrocytosis
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185020
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Spherocytosis, Type 1
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:182900
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaun... OMIM:235555
Spherocytosis, Type 2
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... OMIM:616649
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Failure to thrive, Increased he... OMIM:278000
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Pfapa Syndrome
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:42642
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca... OMIM:613490
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... OMIM:614470
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ... OMIM:602347
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... OMIM:618892
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Failure to thrive, Hypocholesterolemia, Splenomeg... OMIM:607765
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Cholecystitis, Red... OMIM:266200
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Anemia, Elevate... OMIM:615234
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s... OMIM:619046
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hyperammonemia, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytope... ORPHA:79312
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c... ORPHA:69663
Body Mass Index Quantitative Trait Locus 19
Obesity, Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration... ORPHA:209902
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia,... OMIM:226990
Hemochromatosis, Type 2A
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... OMIM:602390
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly OMIM:615085
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno... OMIM:618495
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, ... ORPHA:507
Wilson Disease
Failure to thrive, Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we... ORPHA:905
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... ORPHA:79477
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,... OMIM:615387
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... OMIM:613673
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... ORPHA:64743
Pseudohypoparathyroidism, Type Ib
Obesity, Hyperphosphatemia, Hypocalcemia OMIM:603233
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Anemia, Increased body mass index OMIM:614450
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... OMIM:185000
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti... OMIM:612714
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Anemia, Thromboc... ORPHA:848
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Failure to thrive, Hepatitis, Hyperbilirubin... OMIM:613812
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Large for gestational age, Focal pancreatic islet hyperplas... ORPHA:79644
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Tangier Disease
Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Left ... OMIM:205400
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Ly... OMIM:603554
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Hepatic steatosis, Portal hypertension, Splenom... ORPHA:567983
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Proteasome-Associated Autoinflammatory Syndrome 4
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomega... OMIM:619183
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Anemia, Lipodystrophy, Lymphadenopathy, Thrombocyto... OMIM:617591
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Wolman Disease
Ascites, Splenomegaly, Cachexia, Anemia, Hepatomegaly, Bone-marrow foam cells ORPHA:75233
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula... OMIM:194380
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Abdominal obesity, Hypercholesterolemia, Truncal obesity... OMIM:615812
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:603553
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pancreatic islet-cell hyperplasia ORPHA:276608
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasia, Increased... ORPHA:263455
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Blue Diaper Syndrome
Increased body weight, Hypercalcemia, Hyperphosphatemia ORPHA:94086
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ... OMIM:613027
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Weight loss, Panniculitis, Splenomegaly ORPHA:33577
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Hepatic steatosis, Splenomegal... ORPHA:264580
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen... ORPHA:158061
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... OMIM:210250
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Macrocephaly/Autism Syndrome
Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Overgrowth, Hepatomegaly OMIM:605309
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... OMIM:602450
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... ORPHA:829
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Budd-Chiari Syndrome
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Weight loss, Cirrhosis, H... ORPHA:131
Dysbetalipoproteinemia
Obesity, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hyperc... ORPHA:412
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Splenomegaly, Elevated circulating creatine kinase concentration, Increased bod... ORPHA:79240
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, T... ORPHA:457077
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No... OMIM:613470
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Increased circulating ferri... ORPHA:77259
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Failure to thrive,... OMIM:251880
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Isolated Biliary Atresia
Periportal fibrosis, Failure to thrive, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged... ORPHA:30391
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Hyperammonemia, Splenomegaly, Hepatome... OMIM:618641
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Mody
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Abnormal circulating C-peptide... ORPHA:552
Smith-Magenis Syndrome
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Obesity, Hyperbilirubinemia OMIM:609734
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Obesity, Hypocalcemia, Hyperammonemia, Elevated circ... ORPHA:26793
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hepatomegaly, Large for gestational age, Hypophosphatemia OMIM:616026
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Cholelithiasis, Stomatocytosis, Hyperbilirubinemia, Abnormal erythro... ORPHA:288
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula... ORPHA:247353
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, ... OMIM:611881
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Biliary cirrhosis, Abnormal circulating lipid concentration... ORPHA:2298
Hyperparathyroidism, Neonatal Severe
Failure to thrive, Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia OMIM:239200
Lysinuric Protein Intolerance
Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentration, Leukopenia, Hy... OMIM:222700
Multiple Myeloma
Tall stature, Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Lymphaden... ORPHA:29073
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad OMIM:615830
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Overgrowth, Splenomegaly, Lipoma OMIM:612918
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Hyperlipidemia, Hepatic steatosis, Increased body weight, Abdominal obesity ORPHA:189427
Lipodystrophy, Congenital Generalized, Type 1
Tall stature, Hepatic steatosis, Splenomegaly, Reduced subcutaneous adipose tissue, Cirrhosis, Li... OMIM:608594
Tyrosinemia, Type I
Hypermethioninemia, Failure to thrive, Ascites, Hypophosphatemic rickets, Splenomegaly, Pancreati... OMIM:276700
Lipodystrophy, Congenital Generalized, Type 2
Tall stature, Hepatic steatosis, Splenomegaly, Reduced subcutaneous adipose tissue, Cirrhosis, Li... OMIM:269700
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Sotos Syndrome
Increased body weight, Tall stature, Prolonged neonatal jaundice, Overgrowth OMIM:117550
Aromatase Deficiency
Tall stature, Obesity, Hyperlipidemia, Eunuchoid habitus, Hepatic steatosis, Enlarged polycystic ... ORPHA:91
Adrenocortical Carcinoma
Increased body weight, Weight loss, Hypokalemia ORPHA:1501
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal circulating lipid concentration, Increased LDL cholesterol concentration... ORPHA:77293
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec... ORPHA:244242
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Cushing Disease
Lymphopenia, Dorsocervical fat pad, Leukocytosis, Increased body weight, Truncal obesity, Abdomin... ORPHA:96253
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, D... ORPHA:99889
Carney Complex
Tall stature, Dorsocervical fat pad, Increased body weight, Abdominal obesity, Neoplasm of the pa... ORPHA:1359

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 Azgp1

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 Azgp1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Effects of Azgp1-/-on mammary gland, adipose tissue and liver gene expression and milk lipid composition in lactating mice. Gene (January 2019) Azgp1tm1(KOMP)Vlcg 30660714

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
Azgp1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Azgp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Azgp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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