Not currently registered for phenotyping at IMPC

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

Gene Summary

nuclear factor, erythroid derived 2,-like 1
TCF-11,  TCF11,  LCR-F1,  Lcrf1,  NRF1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nfe2l1 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 Nfe2l1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... ORPHA:90039
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperglycemia, Hyperinsulinemia OMIM:616214
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Aniso... OMIM:615631
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314802
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Hy... ORPHA:293964
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... OMIM:615234
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Acute Myelomonocytic Leukemia
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth... ORPHA:99886
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
X-Linked Sideroblastic Anemia
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly ORPHA:75563
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi... OMIM:600955
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... ORPHA:848
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... OMIM:300751
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia ORPHA:314811
Pituitary Hormone Deficiency, Combined, 4
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... OMIM:262700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Sideroblastic anemia, Pallor, Hepatomega... OMIM:613561
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia ORPHA:163596
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly OMIM:312500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... OMIM:194380
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Elliptocytosis 1
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia OMIM:611804
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Congenital Dyserythropoietic Anemia Type Iii
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... ORPHA:98870
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia OMIM:205950
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete... ORPHA:453533
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... ORPHA:507
Glucocorticoid Deficiency 3
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... OMIM:609197
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Insulinomatosis And Diabetes Mellitus
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... OMIM:147630
Beta-Thalassemia Intermedia
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... ORPHA:231222
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Pallor, Reticulocytosis, Short stature, Decreased mean corpuscular volume, He... OMIM:611590
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... OMIM:254450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... OMIM:613839
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor ORPHA:56425
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... ORPHA:300298
Evans Syndrome
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... ORPHA:1959
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Redundant skin, Neonatal death OMIM:301021
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Dominant Beta-Thalassemia
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231226
Fetal Parvovirus Syndrome
Anemia, Intrauterine growth retardation, Thrombocytopenia ORPHA:295
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Beta-Thalassemia Major
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231214
Letterer-Siwe Disease
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Anemia ORPHA:655
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... OMIM:206100
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... OMIM:301310
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Diamond-Blackfan Anemia 9
Anemia, Growth delay OMIM:613308
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... OMIM:613986
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... ORPHA:35858
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce... OMIM:607616
Anemia, Splenomegaly, Neutropenia OMIM:602079
Abnormality of the liver, Hypochromic anemia OMIM:209300
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature, Purpura ORPHA:3204
Peripheral Cone Dystrophy
Pallor OMIM:609021
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Neonatal death, Death in adolescence, Thrombocytopenia, Stillbirth OMIM:619751
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... OMIM:613313
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Hepatomegaly, Abnormal neut... ORPHA:3226
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Pearson Marrow-Pancreas Syndrome
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... OMIM:557000
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia OMIM:187800
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa... ORPHA:331206
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Growth delay, Splenomegaly ORPHA:100025
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay OMIM:614082
Autoimmune Hemolytic Anemia, Warm Type
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice OMIM:603552
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Intrauterine growth retardation, Death in infancy, Neonatal death, Anemia OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Intrauterine growth retardation, Death in infancy, Neonatal death, Anemia OMIM:618839
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Intrauterine growth retardation, Hepatom... ORPHA:858
Transaldolase Deficiency
Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia ORPHA:101028
Bone Marrow Failure Syndrome 4
Rhizomelia, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Short stature OMIM:618116
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia, Growth delay OMIM:611490
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura OMIM:620296
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Hemochromatosis, Type 3
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Ane... OMIM:604250
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... OMIM:224120
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Mu-Heavy Chain Disease
Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly ORPHA:100024
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... ORPHA:98849
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... OMIM:615438
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Hereditary Folate Malabsorption
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... OMIM:616216
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... ORPHA:101096
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia ORPHA:276575
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Reticulocytosis, Macrocytic ... ORPHA:71275
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia ORPHA:318
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay ORPHA:169079
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276556
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... OMIM:615962
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Petechiae, Hepatome... OMIM:612840
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A... ORPHA:86839
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura OMIM:614514
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... OMIM:278000
Optic Atrophy 1
Pallor OMIM:165500
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt... ORPHA:90051
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor ORPHA:276580
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Elevated circulating aspartate aminotransferase concentration, Pallor, Death in childhood, Hepato... OMIM:246450
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Cholestasis, Intrauterine growth retardation, Death in infancy, Neonata... OMIM:608104
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hemochromatosis, Type 4
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis OMIM:606069
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay ORPHA:289916
Acth Deficiency, Isolated
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,... OMIM:201400
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Solitary Fibrous Tumor
Hypoinsulinemia, Hypoglycemia, Recurrent hypoglycemia ORPHA:2126
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor, Growth delay ORPHA:329971
Fanconi Anemia, Complementation Group T
Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Short stature OMIM:616435
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Growth delay ORPHA:75233
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
3-Hydroxy-3-Methylglutaric Aciduria
Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Lipid ... ORPHA:20
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Waldenström Macroglobulinemia
Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Leukemia, Abnormality of neutrophils, Purpura ORPHA:33226
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia ORPHA:284227
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Intrauterine growth retardation, Short stature, Neutropenia OMIM:617056
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... OMIM:606003
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero... OMIM:617021
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Precocious puberty, Hypoglycemia, Abnormal circulating aldosterone, Increased circulating ACTH le... OMIM:614736
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Skin ulcer, Postnatal growth retardation, Abnormal erythrocyte mo... ORPHA:288
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia ORPHA:27
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Fanconi Anemia, Complementation Group I
Short stature, Intrauterine growth retardation, Pallor, Neutropenia OMIM:609053
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia OMIM:614742
Senior-Loken Syndrome 8
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts OMIM:616307
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,... OMIM:201910
Tenorio Syndrome
Hypoinsulinemia, Hypoglycemia OMIM:616260
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... ORPHA:263455
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence... ORPHA:124
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... ORPHA:398124
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ... OMIM:600901
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Congenital Isolated Acth Deficiency
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Adrena... ORPHA:199296
Fanconi Anemia, Complementation Group C
Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytopenia, Anemic pallor, Neutrope... OMIM:227645
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:263400
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Thrombocytosis ORPHA:134
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Elliptocytosis 3
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... OMIM:617948
Retinitis Pigmentosa 51
Pallor OMIM:613464
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Diamond-Blackfan Anemia 1
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:105650
Hydatidiform Mole
Anemia, Miscarriage ORPHA:99927
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation OMIM:618838
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ... OMIM:227650
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Short stature, Neutropenia OMIM:617243
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Dravet Syndrome
Pallor ORPHA:33069
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thr... ORPHA:3260
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Nephronophthisis 9
Anemia, Postnatal growth retardation OMIM:613824
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thromboc... ORPHA:100026
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Severe postnatal growth r... ORPHA:440713
Bone Marrow Failure Syndrome 5
Growth delay, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Short stature OMIM:618165
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating hepatic transaminase concentration, Neutrophilia, Anemia, Abnormality of the... ORPHA:54251
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Pallor, Polycythemia OMIM:606812
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis OMIM:166910
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... ORPHA:158061
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pallor, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly OMIM:277400
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab... OMIM:616113
Pallor, Normochromic anemia ORPHA:95512
Mednik Syndrome
Hepatic fibrosis, Erythema, Cholestasis, Death in childhood, Death in infancy, Neonatal death, Ci... OMIM:609313
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis ORPHA:348
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni... OMIM:607398
Pallor, Normochromic anemia ORPHA:95513
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocytopenia, B l... OMIM:603554
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen... OMIM:275350
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Hypothyroidism, Delayed puberty, Adrenal hypoplasia, D... ORPHA:95496
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... OMIM:615486
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Fanconi Anemia, Complementation Group D2
Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocyt... OMIM:227646
Autosomal Recessive Malignant Osteopetrosis
Pallor, Splenomegaly, Hepatomegaly, Anemia, Growth delay ORPHA:667
Anemia, Anemic pallor, Thrombocytopenia ORPHA:635
Neutrophilic Dermatosis, Acute Febrile
Anemia, Erythema, Pyoderma gangrenosum OMIM:608068
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis OMIM:266140
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Sheehan Syndrome
Dry skin, Pallor, Normochromic anemia ORPHA:91355
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Imerslund-Grasbeck Syndrome 2
Anemia, Megaloblastic anemia, Growth delay OMIM:618882
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia OMIM:620365
Nephronophthisis 11
Anemia, Hepatic fibrosis, Growth delay OMIM:613550
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Myopathy, Mitochondrial, And Ataxia
Short stature, Growth delay, Pallor OMIM:617675
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:457077
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... ORPHA:2330
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Retinitis Pigmentosa 75
Pallor OMIM:617023
Incontinentia Pigmenti
Erythema, Leukocytosis, Pallor, Eosinophilia, Short stature OMIM:308300
Degcags Syndrome
Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Intrauterine growth retardation, Pallo... OMIM:619488
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Short stature, Extramedullary hematopoiesis OMIM:259730
Tay-Sachs Disease
Pallor OMIM:272800
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Von Hippel-Lindau Disease
Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas ORPHA:892
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Death in childhood, Death in infancy, Hepatomegaly, Anemia, Growth delay OMIM:612301
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Death in childhood, Schistocytosis, Anisopoikilocytosis, Anemia OMIM:616457
Infection-Related Hemolytic Uremic Syndrome
Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia ORPHA:544482
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Childhood Absence Epilepsy
Pallor ORPHA:64280
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Delayed puberty, Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Goodpasture Syndrome
Anemia, Pallor OMIM:233450
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Pallor ORPHA:91347
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125


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 Nfe2l1

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 Nfe2l1.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Sterol O-acyltransferase (SOAT/ACAT) activity is required to form cholesterol crystals in hepatocyte lipid droplets. Biochimica et biophysica acta. Molecular and cell biology of lipids (May 2024) Nfe2l1tm1c(EUCOMM)Hmgu 38761895
HDL functionality is dependent on hepatocyte stress defense factors Nrf1 and Nrf2. Frontiers in physiology (July 2023) Nfe2l1tm1c(EUCOMM)Hmgu PMC10369849
Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload. Cell reports (April 2023) Nfe2l1tm1c(EUCOMM)Hmgu 37060561
Brown adipose tissue thermogenic adaptation requires Nrf1-mediated proteasomal activity. Nature medicine (February 2018) Nfe2l1tm1a(EUCOMM)Hmgu PMC5839993
NRF1 Is an ER Membrane Sensor that Is Central to Cholesterol Homeostasis. Cell (November 2017) Nfe2l1tm1c(EUCOMM)Hmgu Nfe2l1tm1a(EUCOMM)Hmgu 29149604

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MGI Allele Allele Type Produced
Nfe2l1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nfe2l1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Nfe2l1tm115346(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nfe2l1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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