Not currently registered for phenotyping at IMPC

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

Gene Summary

minichromosome maintenance complex component 3
p1.m,  Mcmd,  P1

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 Mcm3 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 Mcm3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Fanconi Anemia, Complementation Group G
Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volum... OMIM:615234
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Pallor, Anemia, Splenomegaly ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Anisocy... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Anemia, Splenomegaly, Anisoc... ORPHA:766
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Anemia, Congenital Dyserythropoietic, Type Ii
Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Splenomegaly, Jaundice, Reti... OMIM:224100
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Microcytic an... ORPHA:848
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice ORPHA:33574
Hepatomegaly, Pancytopenia, Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Inc... ORPHA:507
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
N Syndrome
Leukemia, Abnormality of chromosome stability OMIM:310465
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Increased circulating lactate deh... ORPHA:3203
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Primary Myelofibrosis
Ecchymosis, Hepatomegaly, Leukocytosis, Thrombocytosis, Petechiae, Anemia, Splenomegaly, Pallor, ... ORPHA:824
Transcobalamin Deficiency
Neutropenia, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, Thrombocytopenia ORPHA:859
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability OMIM:175800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Elevated hepatic transam... ORPHA:98870
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Pallor, Elliptocytosis OMIM:611804
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Elevated hepatic iron concentration, Anemia, Hepatosplenomegaly, Dysplastic ... ORPHA:300298
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Pallor OMIM:611590
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Increas... ORPHA:822
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Abnormal lactate dehydrogenase level, Microangiopathic hemolyt... ORPHA:54057
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Beta-Thalassemia Intermedia
Hepatomegaly, Leukocytosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... ORPHA:231222
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
Glycogen Storage Disease Vii
Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemoly... OMIM:232800
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... ORPHA:1959
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Th... ORPHA:88
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Elliptocytosis, Reticulocytosis, ... OMIM:109270
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG l... ORPHA:331206
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... ORPHA:288
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Cold Agglutinin Disease
Pallor, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Intrauterine growth retardation, Stomatocytosis... ORPHA:71275
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly, Death in childhood OMIM:610329
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Bone marrow hypocellularity, Splenomegaly, Myeloproli... ORPHA:3226
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Autoimmune Hemolytic Anemia
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by crosslinking agents, Acute ... OMIM:605724
Hereditary Folate Malabsorption
Decreased circulating antibody level, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosin... ORPHA:90045
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Dominant Beta-Thalassemia
Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microcytic anemia, Splenomegaly, Cirrhosi... ORPHA:231226
Retinitis Pigmentosa 42
Pallor OMIM:612943
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia, Death in childhood OMIM:246450
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Cutis laxa, Decreased circulating antibody level, Micronodular cirrhosis, Decreased... OMIM:301045
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hepatocellular carcinoma, Hypochromic microc... ORPHA:231214
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Retinitis Pigmentosa 60
Pallor OMIM:613983
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level, Facial erythema ORPHA:284227
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Retinitis Pigmentosa 81
Pallor OMIM:617871
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Anisocytosis, Chronic hemolytic anemia, Poikilocytosis, Re... OMIM:618278
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Elevated total serum t... ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Jaundice, Pallor, Autoimmune hemolytic anemia ORPHA:90033
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Intrauterine growth retardation, Pancytopenia, Splenomegaly, Hepatosplenomegaly, De... OMIM:610333
Optic Atrophy 9
Pallor OMIM:616289
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Purpura, Elevated hepatic transaminase OMIM:604250
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Fanconi Anemia, Complementation Group C
Neutropenia, Intrauterine growth retardation, Anemic pallor, Leukemia, Bone marrow hypocellularit... OMIM:227645
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:275350
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Reticulocytopenia... OMIM:600901
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Splenomegaly OMIM:609981
Peripheral Cone Dystrophy
Pallor OMIM:609021
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Anemia, Elevated hepatic transaminase, Thrombocyto... ORPHA:858
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, ... OMIM:274150
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis, Hepatic failure OMIM:606812
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Leukemia, Anemia, Prolonged G2 phase of cell cycle, Reticulocytopenia... OMIM:227650
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Hepatocellular carcinoma, Petechiae, Nodular regenerative hyperplasia o... OMIM:619463
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Fanconi Anemia, Complementation Group L
Chromosome breakage, Anemia, Abnormality of chromosome stability OMIM:614083
Fanconi Anemia, Complementation Group S
Chromosome breakage, Anemia OMIM:617883
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia, Abnormality of chromosome stability ORPHA:2268
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Purpura, Reticulocytosis, Thrombocytopenia OMIM:235400
Lysosomal Acid Lipase Deficiency
Death in infancy, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Reduce... OMIM:278000
Sepsis In Premature Infants
Hepatomegaly, Leukocytosis, Neutropenia, Petechiae, Anemia, Splenomegaly, Decreased liver functio... ORPHA:90051
Optic Atrophy 1
Pallor OMIM:165500
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Diamond-Blackfan Anemia 10
Macrocytic anemia, Anemia, Reticulocytopenia, Patent ductus arteriosus OMIM:613309
Lymphopenia, Abnormality of chromosome stability ORPHA:100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Reticulocytopeni... ORPHA:508542
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Anemia, Spleno... ORPHA:158057
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Anemia, Purpura, Reticuloc... ORPHA:2330
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Retinitis Pigmentosa 70
Pallor OMIM:615922
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Abnor... ORPHA:210136
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Fanconi Anemia, Complementation Group D2
Neutropenia, Anemic pallor, Leukemia, Bone marrow hypocellularity, Anemia, Patent ductus arterios... OMIM:227646
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Death in infancy, Dry skin, Pancytopenia, Intrauterine growth retardation, Impaired... OMIM:614576
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Patent ductus arteriosus, Persistence of he... OMIM:612561
Retinitis Pigmentosa 27
Pallor OMIM:613750
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Leukocytosis, Thrombocytosis, Leukopenia, Lipid accumulation in hepatocytes, Anemia... ORPHA:20
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia OMIM:613561
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Microcytic anemia, Cutis laxa OMIM:612379
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Bone marrow hypocellularity, Neutropenia OMIM:609053
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Acu... ORPHA:905
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly,... ORPHA:33226
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Chromosome breakage, Leukemia, Abnormality of chromosome stability OMIM:208910
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Reduced natural killer cell activity, Decreased... ORPHA:540
Immunodeficiency 47
Death in infancy, Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased... OMIM:300972
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Hepatoportal Sclerosis
Hepatocellular carcinoma, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal... ORPHA:64743
Pseudo-Torch Syndrome 2
Hepatomegaly, Petechiae, Patent ductus arteriosus, Decreased liver function, Elevated hepatic tra... OMIM:617397
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic... ORPHA:398124
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Persistence of hemoglobin F, Acute myeloid leuke... OMIM:260400
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Aplastic anemia OMIM:610832
Retinitis Pigmentosa 73
Pallor OMIM:616544
Lig4 Syndrome
Pancytopenia, Leukocytosis, Abnormality of chromosome stability, Acute leukemia ORPHA:99812
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Cirrhosis, Decreased liver function, Elevated hepatic transaminase OMIM:613280
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Bloom Syndrome
Chromosome breakage, Leukemia, Abnormality of chromosome stability OMIM:210900
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Beta-Ketothiolase Deficiency
Pallor, Hepatomegaly, Leukocytosis, Thrombocytosis ORPHA:134
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Intrauterine growth ret... OMIM:105650
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Neutrophilia, Increased circulating lactate dehydrogenase conce... ORPHA:91547
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
American Trypanosomiasis
Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Pallor ORPHA:276556
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Increased circulating lactate de... ORPHA:90038
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Neutrophilia, Anemia, Liver abscess ORPHA:54251
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Depletion of mitochondrial DNA in liver, Micronodular cirr... OMIM:251880
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Leukocytosis, Thrombocytosis, Portal fibrosis, Thrombocytopenia, Anemia, Splenomegal... ORPHA:3260
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, T lymphocytopenia, Anemia, Abnormal lymphocyte count, Hepatosplenomeg... ORPHA:79124
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Elevated circulating alkaline p... OMIM:613812
Normochromic anemia, Pallor ORPHA:95512
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Elevated circulating alkaline phosphatase conce... ORPHA:263455
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia, Abnormality of chromosome stability OMIM:300514
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Refractory Celiac Disease
Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Elevated alkaline phosphatase of bo... ORPHA:398063
Normochromic anemia, Pallor ORPHA:95513
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Erythroid hyperplasia, Anemia, Increased circulating lactate dehydrogenase concentrat... ORPHA:447
Pearson Syndrome
Hepatomegaly, Neutropenia, Pancytopenia, Macronodular cirrhosis, Bone marrow hypocellularity, Ane... ORPHA:699
Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Anemia, Cirrhosis, Hepatic steatosis, Reticulocyt... ORPHA:14
Porphyria Cutanea Tarda
Elevated hepatic iron concentration, Hepatocellular carcinoma, Chronic hepatitis, Hepatic lobular... ORPHA:101330
Imbalanced hemoglobin synthesis, Leukemia, Decreased circulating antibody level, Pure red cell ap... ORPHA:99867
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Patent ductus ... OMIM:141750
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Acanth... ORPHA:71
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents, Anemia, Thrombocytopenia, Leukopenia OMIM:603467
Sheehan Syndrome
Dry skin, Normochromic anemia, Pallor ORPHA:91355
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Neutropenia OMIM:618752
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Thrombocytopenia, Hepatic failure OMIM:611126
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Splenomegaly, Increased circulating antibody level, Lymphopenia, Elevated h... OMIM:617591
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic fail... OMIM:235555
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Abnormal enzyme/coenzyme activity, Elevated hepatic transaminase... ORPHA:348
Common Variable Immunodeficiency
Decreased circulating antibody level, Splenomegaly, Abnormality of the liver, Autoimmune thromboc... ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Intrahepatic cholestasis with episodic jaundice, Extrahepatic cholestasis... ORPHA:100076
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Dravet Syndrome
Pallor ORPHA:33069
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Retinitis Pigmentosa 51
Pallor OMIM:613464
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormal T cell subset distributio... ORPHA:158048
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, T... ORPHA:79277
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarc... ORPHA:480520
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Pallor, Erythema OMIM:308300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Death in infancy, Abnormal hemoglobin ORPHA:847
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Pallor, Anemia, Splenomegaly ORPHA:667
Marburg Hemorrhagic Fever
Leukopenia, Petechiae, Neutrophilia in presence of infection, Abnormal lymphocyte morphology, Inc... ORPHA:99826
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Acute leukemia, Thrombocytopenia, Hemolytic anemia, Autoimmu... ORPHA:647
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Infection-Related Hemolytic Uremic Syndrome
Pallor, Leukocytosis, Hemolytic anemia, Thrombocytopenia ORPHA:544482
Von Hippel-Lindau Disease
Polycythemia, Pallor ORPHA:892
Senior-Loken Syndrome 8
Hepatic cysts, Pallor OMIM:616307
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Cholecystiti... ORPHA:90041
Degcags Syndrome
Hepatomegaly, Intrauterine growth retardation, Leukopenia, Iron deficiency anemia, Congenital hyp... OMIM:619488
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Hepatic fibrosis, Congenital hepatic fibrosis, Anemia, ... ORPHA:84081
Cartilage-Hair Hypoplasia
Anemia, Neutropenia, Abnormality of chromosome stability ORPHA:175
Lead Poisoning
Abnormal T cell morphology, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Hepatocellular Carcinoma
Hepatomegaly, Thrombocytosis, Hemobilia, Polycythemia, Hepatic necrosis, Anemia, Jaundice, Abnorm... ORPHA:88673
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Elevated gamma-glutamyltransferase level, Biliary... ORPHA:567983
Retinitis Pigmentosa 75
Pallor OMIM:617023
Fanconi Anemia
Abnormality of chromosome stability, Leukopenia, Anemia, Thrombocytopenia, Pyridoxine-responsive ... ORPHA:84
Tay-Sachs Disease
Pallor OMIM:272800
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Childhood Absence Epilepsy
Pallor ORPHA:64280
Rare Circulatory System Disease
Pallor ORPHA:98028
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor ORPHA:137675
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Esophageal Atresia
Pallor ORPHA:1199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor, Patent ductus arteriosus 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 Mcm3

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 Mcm3.

No publications found that use IMPC mice or data for Mcm3.

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MGI Allele Allele Type Produced
Mcm3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mcm3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mcm3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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