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Gene: Nfe2l1 MGI:99421

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

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 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
phenotypes		 Matching phenotypes Source
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Short Stature Due To Partial Ghr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314802
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... OMIM:615234
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Isolated Growth Hormone Deficiency, Type Ia
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... OMIM:262400
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Short Stature Due To Ghsr Deficiency
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty ORPHA:314811
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia OMIM:607398
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... OMIM:262700
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... OMIM:600955
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor OMIM:613561
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Hepatosplenomegaly OMIM:312500
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... ORPHA:98870
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... ORPHA:300298
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... ORPHA:324575
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... ORPHA:552
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... ORPHA:293964
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Redundant skin OMIM:301021
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia ORPHA:295
Nephronophthisis
Anemia ORPHA:655
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... OMIM:600462
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia, Death in childhood OMIM:246450
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... ORPHA:276580
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia ORPHA:329249
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... OMIM:613986
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... OMIM:607616
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Peripheral Cone Dystrophy
Pallor OMIM:609021
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Stuve-Wiedemann Syndrome 2
Death in adolescence, Stillbirth, Neonatal death, Intrauterine growth retardation, Thrombocytopenia OMIM:619751
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... ORPHA:276575
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Obesity And Hypopigmentation
Hyperinsulinemia OMIM:620195
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Alpha-Heavy Chain Disease
Growth delay, Splenomegaly, Anemia, Hepatomegaly ORPHA:100025
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia OMIM:618835
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Anemia, Intrauterine growth retardation, T... ORPHA:858
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia OMIM:618839
Optic Atrophy 1
Pallor OMIM:165500
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly ORPHA:99931
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura OMIM:620296
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Hepatomegaly ORPHA:100024
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Anemia, Leukopenia, Dry skin, Thrombocytopenia OMIM:618116
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... OMIM:619326
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... OMIM:615438
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Glucocorticoid Resistance, Generalized
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... OMIM:615962
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Hyperinsulinism Due To Ucp2 Deficiency
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... ORPHA:276556
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... ORPHA:101096
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Thrombocytopenia 5
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... OMIM:314050
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Jaundice, Sphero... ORPHA:71275
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ... ORPHA:90051
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura OMIM:614514
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Death in infancy, Elevated circulating aspartate aminotransf... OMIM:278000
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty OMIM:616033
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Acth Deficiency, Isolated
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... OMIM:201400
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Death in infancy, Cholestasis, Anemia, Decreased liver function, Neonatal death, In... OMIM:608104
Plin1-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... ORPHA:280356
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Solitary Fibrous Tumor
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia ORPHA:2126
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia OMIM:616435
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Anemia ORPHA:75233
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Abnormal circulating reni... OMIM:614736
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... ORPHA:20
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... OMIM:604367
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura ORPHA:33226
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Short stature, Anemia, Neutropenia OMIM:617056
American Trypanosomiasis
Splenomegaly, Pallor, Hepatomegaly ORPHA:3386
Tempi Syndrome
Increased hematocrit, Polycythemia, Facial erythema ORPHA:284227
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... OMIM:606003
Ornithine Transcarbamylase Deficiency
Hypoglycemia ORPHA:664
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Pallor, Neutropenia OMIM:609053
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... OMIM:300367
Propionic Acidemia
Hypoglycemia ORPHA:35
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia OMIM:616260
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... ORPHA:263455
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... OMIM:611881
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome OMIM:201910
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... ORPHA:124
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... OMIM:600901
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Intrauterine ... OMIM:227645
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Thrombocytopenia, Neutropenia OMIM:617243
Hydatidiform Mole
Miscarriage, Anemia ORPHA:99927
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly ORPHA:134
Retinitis Pigmentosa 51
Pallor OMIM:613464
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Anemia OMIM:618838
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... OMIM:227650
Retinitis Pigmentosa
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Diamond-Blackfan Anemia 1
Macrocytic anemia, Thrombocytosis, Short stature, Congenital hypoplastic anemia, Reticulocytopeni... OMIM:105650
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe... ORPHA:440713
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Anemia OMIM:618165
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Anemia ORPHA:54251
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy... ORPHA:3260
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Dravet Syndrome
Pallor ORPHA:33069
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus ORPHA:3085
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia ORPHA:88
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... ORPHA:2298
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor OMIM:606812
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Mednik Syndrome
Death in infancy, Erythema, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Death in chil... OMIM:609313
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, A... ORPHA:95496
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Anemia ORPHA:667
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Short stature, Annular pancreas, Reticulocytopenia, Anemia, Neutrope... OMIM:227646
Galactokinase Deficiency
Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia ORPHA:79237
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Donohue Syndrome
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... OMIM:246200
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... ORPHA:300373
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Sheehan Syndrome
Normochromic anemia, Dry skin, Pallor ORPHA:91355
Nephronophthisis 11
Growth delay, Hepatic fibrosis, Anemia OMIM:613550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Hyperinsulinemia ORPHA:363400
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... ORPHA:2330
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Retinitis Pigmentosa 75
Pallor OMIM:617023
Incontinentia Pigmenti
Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor OMIM:308300
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Degcags Syndrome
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko... OMIM:619488
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... OMIM:131100
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia ORPHA:892
Tay-Sachs Disease
Pallor OMIM:272800
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death in childhood, Anemia OMIM:616457
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Hepatomegaly, Splenomegaly, Growth delay, Death in childhood, Anemia OMIM:612301
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia ORPHA:544482
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Childhood Absence Epilepsy
Pallor ORPHA:64280
Congenital Generalized Lipodystrophy
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Precocious puberty in females ORPHA:528
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Mandibuloacral Dysplasia
Glucose intolerance, Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus OMIM:608612
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... ORPHA:786
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Acquired Generalized Lipodystrophy
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79086
Esophageal Atresia
Growth delay, Pallor ORPHA:1199
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor ORPHA:653
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus OMIM:151660
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Woodhouse-Sakati Syndrome
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... ORPHA:3464
Tsh-Secreting Pituitary Adenoma
Pallor, Delayed puberty ORPHA:91347
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Impaired glucose tolerance OMIM:248370
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia OMIM:613327
Leprechaunism
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... ORPHA:508
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... OMIM:176270
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Lipodystrophy, Congenital Generalized, Type 1
Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... OMIM:608594
Atypical Werner Syndrome
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... ORPHA:79474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Lipodystrophy, Congenital Generalized, Type 2
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... OMIM:269700
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99413
Turner Syndrome
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:881
Mosaic Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... ORPHA:99226
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor ORPHA:99125
Alström Syndrome
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... ORPHA:64
Pmm2-Cdg
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... ORPHA:79318

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 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 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

Order Mouse and ES Cells

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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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