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Gene: Sf3b1 MGI:1932339

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

splicing factor 3b, subunit 1

Synonyms:

SF3b155, 2810001M05Rik, Targ4, Prp10, SAP155

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 Sf3b1 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.

Human diseases associated with Sf3b1 (3 diseases)
Human diseases predicted to be associated with Sf3b1 (402 diseases)

The table below shows human diseases associated to Sf3b1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Myelodysplastic Syndrome		OMIM:614286
Uveal Melanoma		ORPHA:39044

The table below shows human diseases predicted to be associated to Sf3b1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Thrombocytosis	OMIM:604416
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Lethargy, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo...	OMIM:615234
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Neutro...	OMIM:620501
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome...	OMIM:613839
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis	OMIM:616566
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Infantile Liver Failure Syndrome 1	Anemia, Hepatomegaly, Hepatic steatosis, Macrocytic anemia	OMIM:615438
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Lethargy, Megaloblastic anemia	OMIM:236270
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp...	ORPHA:231222
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Lethargy, Increased mean corpuscular volume	OMIM:277410
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis	OMIM:613702
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Lethargy, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Lethargy, Reticulocytopenia,...	OMIM:275350
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic...	ORPHA:848
Birk-Aharoni Syndrome	Macrocytic anemia	OMIM:620071
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Let...	ORPHA:2169
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia	OMIM:616176
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia	ORPHA:2575
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Refractory Celiac Disease	Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr...	ORPHA:398063
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Nephronophthisis	Anemia	ORPHA:655
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ...	OMIM:608203
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Hepatosplenomegaly, Azoospermia, Reticulocytopenia, Dysplastic erythropoesis, Eleva...	ORPHA:300298
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia	OMIM:300752
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae	OMIM:608681
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Lethargy, Megaloblastic anemia, Neutropenia	OMIM:250940
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas...	OMIM:619652
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Acrodysplasia Scoliosis	Spina bifida occulta, Scoliosis, Vertebral segmentation defect	ORPHA:2956
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Wolfram Syndrome 1	Testicular atrophy, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Autosomal Dominant Optic Atrophy, Classic Form	Hypogonadism, Macrocytic anemia	ORPHA:98673
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Lethargy	OMIM:613561
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Hepatomegaly, Lethargy, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Diamond-Blackfan Anemia 10	Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Autoimmune Polyendocrinopathy Type 4	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227990
Celiac Disease, Susceptibility To, 1	Infertility, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis	OMIM:212750
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Shwachman-Diamond Syndrome	Normocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volum...	ORPHA:811
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Abnormal erythrocyte morphology, Thrombocytosis, Autoimmune thrombocy...	ORPHA:324636
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae	ORPHA:1436
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis	ORPHA:79278
Methylmalonic Acidemia With Homocystinuria Type Cblf	Lethargy, Megaloblastic anemia, Neutropenia, Reduced number of intrahepatic bile ducts	ORPHA:79284
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hepatitis, Macrocytic anemia, Lethargy, Eosinophilia, Premature ovarian insuff...	ORPHA:199299
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th...	OMIM:243150
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Poems Syndrome	Polycythemia, Hypogonadism, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly, Erectile...	ORPHA:2905
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hepatic steatosis, Prolonged neo...	ORPHA:79303
Interstitial Lung And Liver Disease	Hepatic fibrosis, Cholestasis, Hepatic steatosis, Hepatomegaly, Cirrhosis, Thrombocytosis, Anemia	OMIM:615486
Autoimmune Polyendocrinopathy Type 3	Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Thymoma, Biliary...	ORPHA:227982
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, Lethargy, Thrombocytos...	ORPHA:20
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hepat...	OMIM:259720
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Castleman Disease	Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, J...	ORPHA:160
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia...	OMIM:301074
Revesz Syndrome	Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia	OMIM:268130
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Rajab Interstitial Lung Disease With Brain Calcifications 2	Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis	OMIM:619013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Lethargy, Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Von Willebrand Disease	Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Abnormal platelet function, Men...	ORPHA:903
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Macrocytic anemia	OMIM:614294
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Thrombocytosis	ORPHA:134
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	ORPHA:3260
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Leukocytosis, Thrombocytosis	OMIM:618213
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Prolonged...	OMIM:257200
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Hepatic steatosis, Thrombocytosis, Hepatomegaly, Premature ovarian insufficienc...	OMIM:212065
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production	OMIM:614900
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypogonadism, Megaloblastic anemia	ORPHA:79351
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Acatalasemia	Microcytic anemia	ORPHA:926
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatomegaly, Jaundice, A...	OMIM:222470
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Blue Rubber Bleb Nevus	Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:277400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Hydatidiform Mole	Anemia, Menometrorrhagia	ORPHA:99927
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Orchitis, Hepato...	ORPHA:1304
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Orthostatic Hypotension 2	Anemia	OMIM:618182
Pearson Marrow-Pancreas Syndrome	Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Refractory s...	OMIM:557000
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Abnormality of the menstrual cycle	ORPHA:90308
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Non-Functioning Pituitary Adenoma	Irregular menstruation, Male hypogonadism, Abnormality of the menstrual cycle, Hypogonadism, Decr...	ORPHA:91349
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Lethargy, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Jaundice	ORPHA:79282
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Acquired Von Willebrand Syndrome	Normocytic anemia, Hypochromic anemia, Metrorrhagia, Refractory anemia, Menorrhagia	ORPHA:99147
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia	OMIM:612379
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis	OMIM:610198
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Cholelithiasis, Normochromic anemia	OMIM:618775
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia	ORPHA:79096
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Hypermanganesemia With Dystonia 1	Hepatomegaly, Bradykinesia, Cirrhosis, Polycythemia	OMIM:613280
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia	OMIM:607906
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ...	OMIM:617941
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia	ORPHA:89937
Eisenmenger Syndrome	Increased mean corpuscular volume, Abnormality of the liver, Lethargy, Iron deficiency anemia, Hy...	ORPHA:97214
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Lead Poisoning	Decreased male libido, Imbalanced hemoglobin synthesis, Reduced sperm motility, Abnormality of th...	ORPHA:330015
Addison Disease	Normocytic anemia, Thymoma, Decreased female libido, Thiamine-responsive megaloblastic anemia, Pr...	ORPHA:85138
Kawasaki Disease	Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis, Jaundice	ORPHA:2331
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Microcytic anemia	OMIM:612073
Adenohypophysitis	Decreased male libido, Decreased female libido, Amenorrhea, Impotence, Normochromic anemia	ORPHA:95512
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia, Hypogonadotropic hypogonadism, Primary amenorrhea	ORPHA:293967
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Kearns-Sayre Syndrome	Sideroblastic anemia	OMIM:530000
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, Hepatic steatosis, Premature ovarian insufficiency, T lymphocytopenia, Neoplas...	ORPHA:2959
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abnormality of th...	ORPHA:906
Panhypophysitis	Decreased male libido, Decreased female libido, Amenorrhea, Impotence, Normochromic anemia	ORPHA:95513
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Hepatomegaly, Neutropenia	OMIM:251900
Abcd Syndrome	Polycythemia	OMIM:600501
H Syndrome	Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Azoospermia, Amenorrhea, Lymphadenopathy, Hi...	ORPHA:168569
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Abnormality of the liver, Lymphocytosis, Iron deficiency anemi...	ORPHA:1667
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Hypochromic microcytic anemia	OMIM:619147
Pituitary Apoplexy	Impotence, Oligomenorrhea, Hypergonadotropic hypogonadism, Normochromic anemia	ORPHA:95613
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Hypochromic microcytic anemia, Microvesicular hepatic steatosis	ORPHA:66634
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypochromic anemia, Leukocytosis, Splenomegaly	ORPHA:289157
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia	OMIM:618885
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
Sheehan Syndrome	Decreased female libido, Amenorrhea, Oligomenorrhea, Dyspareunia, Impotence, Normochromic anemia	ORPHA:91355
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Barth Syndrome	Hypochromic microcytic anemia, Granulocytopenia, Cyclic neutropenia, Neutropenia	OMIM:302060
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Ne...	ORPHA:37042
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Peutz-Jeghers Syndrome	Iron deficiency anemia, Bile duct polyp, Neoplasm of the pancreas, Biliary tract abnormality	OMIM:175200
Aceruloplasminemia	Abnormal pancreas morphology, Refractory anemia, Elevated hepatic iron concentration, Hypochromic...	ORPHA:48818
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Doors Syndrome	Thrombocytosis	ORPHA:79500
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepatomegaly	ORPHA:99843
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Liver abscess	ORPHA:2038
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Impotence, Retrograde ejaculation	ORPHA:49041
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Congenital Disorder Of Glycosylation, Type Iiw	Increased hepatic echogenicity, Microcytic anemia, Hepatic steatosis, Splenomegaly, Prolonged neo...	OMIM:619525
Acute Adrenal Insufficiency	Normocytic anemia, Decreased female libido	ORPHA:95409
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Neoplasm of the liver,...	ORPHA:97282
Glucagonoma	Intrahepatic cholestasis, Acanthocytosis, Neoplasm of the pancreas, Intermittent jaundice, Hepato...	ORPHA:97280
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Pancreatic Triacylglycerol Lipase Deficiency	Exocrine pancreatic insufficiency, Iron deficiency anemia	ORPHA:309031
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia	ORPHA:96123
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Microcytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepat...	OMIM:256040
Fanconi Anemia	Hypogonadism, Leukopenia, Azoospermia, Abnormality of the liver, Thrombocytopenia, Anemia, Decrea...	ORPHA:84
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Iron deficiency anemia	ORPHA:261584
Somatostatinoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Gallbladder dysfunctio...	ORPHA:97283
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Hepatomegaly, Chordee, Abnormal spleen...	OMIM:619488
Alkaptonuria	Methemoglobinemia, Prostatitis, Hemolytic anemia, Black pigment gallstones	ORPHA:56
Ogden Syndrome	Polycythemia, Microvesicular hepatic steatosis, Iron deficiency anemia, Thrombocytopenia, Jaundic...	OMIM:300855
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Normochromic anemia	ORPHA:91500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Anemia, Iron deficiency anemia	ORPHA:79408
Gitelman Syndrome	Iron deficiency anemia, Neoplasm of the pancreas	ORPHA:358
Myelodysplastic Syndrome		OMIM:614286
Uveal Melanoma		ORPHA:39044

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 Sf3b1

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 Sf3b1.

No publications found that use IMPC mice or data for Sf3b1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sf3b1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Sf3b1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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