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Gene: Ulk1 MGI:1270126

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

unc-51 like kinase 1

Synonyms:

Unc51.1

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 Ulk1 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 Ulk1 (0 diseases)
Human diseases predicted to be associated with Ulk1 (346 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ulk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor...	OMIM:206000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia	OMIM:206100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ...	OMIM:237800
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia	OMIM:613977
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Anemia, Congenital Dyserythropoietic, Type Iv	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp...	OMIM:613673
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik...	OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi...	OMIM:615631
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j...	OMIM:224120
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy...	ORPHA:3203
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume	OMIM:252270
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ...	ORPHA:766
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio	OMIM:613978
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly	OMIM:224100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Azoospermia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, ...	OMIM:615234
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:231393
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Glutamate-Cysteine Ligase Deficiency	Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia	ORPHA:33574
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia	OMIM:610629
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume	OMIM:261000
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis	OMIM:612690
Cryohydrocytosis	Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly	OMIM:185020
Barth Syndrome	Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo...	ORPHA:67044
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple...	OMIM:616860
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis	OMIM:612653
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope...	OMIM:300835
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Dehydrated Hereditary Stomatocytosis	Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ...	ORPHA:3202
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:185000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit...	ORPHA:86841
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis	OMIM:182900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:314050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A...	OMIM:300908
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi...	OMIM:235700
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth...	OMIM:109270
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly	OMIM:611490
Apolipoprotein A-I Deficiency	Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly	ORPHA:425
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,...	OMIM:618849
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Glut1 Deficiency Syndrome 2	Reticulocytosis	OMIM:612126
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly	OMIM:618892
Elliptocytosis 2	Reticulocytosis, Hemolytic anemia, Elliptocytosis	OMIM:130600
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi...	ORPHA:846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Congenital Dyserythropoietic Anemia Type Iii	Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo...	ORPHA:98870
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega...	OMIM:133180
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi...	OMIM:194380
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia	OMIM:611590
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Chol...	OMIM:232800
Isobutyryl-Coa Dehydrogenase Deficiency	Decreased plasma carnitine, Anemia	OMIM:611283
Elliptocytosis 3	Chronic hemolytic anemia, Elliptocytosis, Intermittent jaundice, Pyropoikilocytosis, Decreased me...	OMIM:617948
Hereditary Elliptocytosis	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog...	ORPHA:288
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly	OMIM:266200
Majeed Syndrome	Microcytic anemia, Erythroid hyperplasia, Anemia of inadequate production, Decreased mean corpusc...	OMIM:609628
Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia	OMIM:300653
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega...	OMIM:615285
Sitosterolemia 1	Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate...	OMIM:210250
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Trimethylaminuria	Neutropenia, Anemia, Splenomegaly	OMIM:602079
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto...	OMIM:615550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti...	ORPHA:444463
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi...	ORPHA:822
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly	OMIM:618963
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Elliptocytosis, Hepatocellular necrosis, Reticulocytosis, Hepatomegaly,...	OMIM:618278
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Retinitis Pigmentosa And Erythrocytic Microcytosis	Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis	OMIM:616959
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Azoospermia, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Elevated h...	ORPHA:300298
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:612527
Sea-Blue Histiocyte Disease	Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo...	OMIM:258900
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:618852
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia	OMIM:612528
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:618495
Beta-Thalassemia	Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal...	ORPHA:848
Thanatophoric Dysplasia, Glasgow Variant	Hepatosplenomegaly, Anemia	OMIM:273680
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Barth Syndrome	Abnormal mitochondrial morphology, Granulocytopenia, Neutropenia	OMIM:302060
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:163596
Methylcobalamin Deficiency Type Cble	Neutropenia, Pancytopenia, Increased mean corpuscular volume, Abnormality of the liver, Macrocyti...	ORPHA:2169
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe...	ORPHA:231226
Polycythemia Vera	Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre...	OMIM:263300
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment...	ORPHA:75564
Pancytopenia And Occlusive Vascular Disease	Thrombocytopenia, Leukopenia, Pancytopenia, Anemia	OMIM:167850
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:100024
Beta-Thalassemia Intermedia	Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula...	ORPHA:231222
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ...	OMIM:222800
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Acute Erythroid Leukemia	Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity	ORPHA:318
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly...	OMIM:603552
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula...	OMIM:614470
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Jaundice, Prolonged neonata...	OMIM:274150
Erythrocytosis, Familial, 4	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:611783
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Refractory Anemia With Excess Blasts	Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Bone mar...	ORPHA:86839
Hemochromatosis, Type 2B	Hepatomegaly, Cirrhosis, Anemia, Splenomegaly	OMIM:613313
Erythrocytosis, Familial, 5	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 6	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Elliptocytosis 1	Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly	OMIM:611804
Reticular Dysgenesis	Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Anemia, Leukopenia, Abnormality of ...	ORPHA:33355
Alpha-Heavy Chain Disease	Hepatomegaly, Ascites, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:100025
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly	OMIM:133100
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia	OMIM:615715
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ...	OMIM:617514
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Jaundice, Abnormal mitochondrial morphology, Cholestasis	OMIM:618528
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy	OMIM:613101
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis	OMIM:235400
Idiopathic Aplastic Anemia	Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hypocellularity	ORPHA:88
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial complex IV, Abnormal mitochondrial morphology	OMIM:618378
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly	OMIM:608971
Ataxia-Pancytopenia Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Beta-Thalassemia Major	Hypochromic microcytic anemia, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Pe...	ORPHA:231214
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotax...	ORPHA:811
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Blackfan-Diamond Anemia	Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo...	ORPHA:124
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal...	OMIM:612840
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A...	OMIM:202700
Myopathy With Lactic Acidosis, Hereditary	Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex II, ...	OMIM:255125
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
16Q24.3 Microdeletion Syndrome	Thrombocytopenia, Increased mean corpuscular volume	ORPHA:261250
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu...	OMIM:619375
Lcat Deficiency	Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly	ORPHA:650
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node...	OMIM:209950
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis	OMIM:141700
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro...	ORPHA:521
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:619220
Schnitzler Syndrome	Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy	ORPHA:37748
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Kasabach-Merritt Syndrome	Microangiopathic hemolytic anemia, Reticulocytosis, Abnormal lymphatic vessel morphology, Neutrop...	ORPHA:2330
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy	ORPHA:66661
Bile Acid Synthesis Defect, Congenital, 5	Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega...	OMIM:616278
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:601859
Omenn Syndrome	Severe B lymphocytopenia, Lymphadenopathy, Thrombocytopenia, Hypoplasia of the thymus, Hepatomega...	OMIM:603554
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormality of mitochondrial metabolism, Anemia	ORPHA:1192
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly	OMIM:607616
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly	OMIM:615947
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel...	OMIM:613470
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod...	OMIM:300751
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq...	OMIM:612714
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly	ORPHA:56425
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia...	OMIM:611881
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion...	ORPHA:3261
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly	OMIM:618398
Aregenerative Anemia	Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc...	ORPHA:101096
Primary Myelofibrosis	Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb...	ORPHA:824
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Decreased activity of mitochondrial complex IV, Increased mitochondrial number	OMIM:619063
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Immunodeficiency 47	Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly	OMIM:300972
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Thrombocytopenia, ...	ORPHA:90038
Castleman Disease	Abdominal mass, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Jaundice, ...	ORPHA:160
Immunodeficiency 76	T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:619164
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm...	OMIM:618534
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Leigh Syndrome With Leukodystrophy	Decreased activity of the pyruvate dehydrogenase complex, Anemia, Decreased activity of mitochond...	ORPHA:255241
Pyropoikilocytosis, Hereditary	Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis	OMIM:266140
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production	OMIM:300367
Tyrosinemia Type 1	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number	ORPHA:352470
Leishmaniasis	Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi...	ORPHA:507
Wolman Disease	Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly	ORPHA:75233
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Lymphoproliferative Syndrome 1	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he...	OMIM:613011
Immunodeficiency 14A, Autosomal Dominant	Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of...	OMIM:615513
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis	OMIM:102730
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope...	ORPHA:79277
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis	ORPHA:79312
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Gamma-Heavy Chain Disease	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo...	ORPHA:100026
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly	OMIM:608885
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology	ORPHA:275872
Sea-Blue Histiocytosis	Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Congenital Bile Acid Synthesis Defect Type 2	Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,...	ORPHA:79303
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Gaucher Disease, Type Iii	Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly	OMIM:231000
Osteopetrosis With Renal Tubular Acidosis	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	ORPHA:2785
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega...	OMIM:150550
Abetalipoproteinemia	Cirrhosis, Reticulocytosis, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Cardiomegaly, Anem...	ORPHA:14
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:603909
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:275350
Pearson Syndrome	Exocrine pancreatic insufficiency, Reticulocytosis, Hepatic steatosis, Macronodular cirrhosis, Ne...	ORPHA:699
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology	ORPHA:99013
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Indolent Systemic Mastocytosis	Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo...	ORPHA:98848
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly	OMIM:616050
Splenoportal Vascular Anomalies	Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly	OMIM:271500
Lymphoproliferative Syndrome, X-Linked, 1	Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi...	OMIM:308240
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati...	OMIM:278000
Lymphoproliferative Syndrome 2	Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen...	OMIM:615122
Farber Lipogranulomatosis	Hepatomegaly, Lipogranulomatosis, Splenomegaly	OMIM:228000
Rh-Null, Regulator Type	Jaundice, Hemolytic anemia, Stomatocytosis	OMIM:268150
Sickle Cell Anemia	Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli...	OMIM:603903
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the mitochondrion, Cirrhosis, Macrovesicular hepatic steatosis, Anemia	ORPHA:298
Diamond-Blackfan Anemia 10	Reticulocytopenia, Anemia, Macrocytic anemia	OMIM:613309
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Tempi Syndrome	Polycythemia, Increased hematocrit, Ascites	ORPHA:284227
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Decreased activity of mitochondrial complex IV, Decreased activity of mitochondrial complex I, De...	OMIM:500013
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane...	ORPHA:398124
Amme Complex	Elliptocytosis	OMIM:300194
Gaucher Disease, Type I	Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypersplenism, Anemia	OMIM:230800
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Hepatomegaly, Abnormal neutrophil co...	ORPHA:3226
Triosephosphate Isomerase Deficiency	Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jau...	OMIM:615512
Wilson Disease	Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti...	ORPHA:905
Omenn Syndrome	Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly...	ORPHA:39041
Essential Thrombocythemia	Abnormal platelet morphology, Acute leukemia, Splenomegaly	ORPHA:3318
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac...	OMIM:618935
Griscelli Syndrome Type 2	Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79477
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly	OMIM:619183
Transaldolase Deficiency	Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Hepatomegaly...	OMIM:606003
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Ascites, Anemia, Sple...	OMIM:259720
Shwachman-Diamond Syndrome 1	Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thromb...	OMIM:260400
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope...	OMIM:308230
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt...	OMIM:612541
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic...	OMIM:251880
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:169090
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly	ORPHA:90033
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope...	ORPHA:508542
Autoimmune Lymphoproliferative Syndrome, Type V	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly...	OMIM:616100
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Fanconi Anemia, Complementation Group E	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia	OMIM:600901
Gray Platelet Syndrome	Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly	OMIM:139090
Eisenmenger Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia, Hepatomegaly, Ascites, Increased mean corp...	ORPHA:97214
Hypermanganesemia With Dystonia 1	Cirrhosis, Polycythemia, Hepatomegaly	OMIM:613280
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Abnormality of the mitochondrion	ORPHA:91130
Fanconi Anemia, Complementation Group A	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia	OMIM:227650
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy	OMIM:617591
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Sideroblastic anemia, B lymphocytopenia, Splenomegaly, Schistocytosis	OMIM:616084
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,...	ORPHA:86843
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ...	ORPHA:98849
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number	ORPHA:352447
Purine Nucleoside Phosphorylase Deficiency	Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Lym...	OMIM:613179
Gaucher Disease Type 1	Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,...	ORPHA:77259
Chediak-Higashi Syndrome	Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia...	OMIM:214500
Nephronophthisis 19	Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation	OMIM:616217
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti...	OMIM:102700
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:141750
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormality of the mitochondrion	ORPHA:330050
Fanconi Anemia, Complementation Group C	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp...	OMIM:227645
Sclerosing Cholangitis, Neonatal	Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno...	OMIM:617394
Sialuria	Hepatomegaly, Abnormality of the mitochondrion, Hepatosplenomegaly, Cholelithiasis	ORPHA:3166
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly	ORPHA:79292
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ...	OMIM:602347
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Deficiency or absence of cyt...	OMIM:233690
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Impaired oxidative burst, Hepatomegaly, Splenomegaly, Deficiency or absence of cyt...	OMIM:306400
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Splenomegaly, Abnormality of the live...	ORPHA:1572
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly	OMIM:239200
Lead Poisoning	Oligospermia, Abnormal sperm morphology, Abnormal T cell morphology, Imbalanced hemoglobin synthe...	ORPHA:330015
Peroxisome Biogenesis Disorder 2A (Zellweger)	Abnormality of the mitochondrion, Intrahepatic biliary dysgenesis, Hypoplasia of the thymus, Jaun...	OMIM:214110
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Mitochondrial swelling	ORPHA:397744
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:301040
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Decreased activity of mitochondrial complex III, Hepatic steatosis, Hepatomegaly, Decreased activ...	ORPHA:17
Fanconi Anemia, Complementation Group D2	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia, Bone marrow hyp...	OMIM:227646
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape	ORPHA:412217
Cowden syndrome 3	Abnormality of mitochondrial metabolism	OMIM:615106
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Multiple Mitochondrial Dysfunctions Syndrome 3	Abnormality of mitochondrial metabolism	OMIM:615330
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number	ORPHA:263297
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape	ORPHA:543470
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr...	OMIM:105650
X-Linked Lymphoproliferative Disease	Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Cervical lymphadenopathy, Lym...	ORPHA:2442
Von Hippel-Lindau Syndrome	Pancreatic cysts, Polycythemia, Abnormality of the liver, Neoplasm of the pancreas	OMIM:193300
Hsd10 Disease, Infantile Type	Abnormality of mitochondrial metabolism, Cardiomegaly	ORPHA:391428
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormality of mitochondrial metabolism	ORPHA:88639
Manganese Poisoning	Abnormality of mitochondrial metabolism	ORPHA:306682
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Micronodular cirrhosis, Microvesicular hepatic steatosis, Abnormality of mitochondrial metabolism...	OMIM:203700
Autosomal Dominant Progressive External Ophthalmoplegia	Left ventricular hypertrophy, Abnormality of the liver, Abnormality of the mitochondrion	ORPHA:254892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Abnormality of mitochondrial metabolism	OMIM:614052
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Abnormality of mitochondrial metabolism	ORPHA:314404

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 Ulk1

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 Ulk1.

No publications found that use IMPC mice or data for Ulk1.

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MGI Allele	Allele Type	Produced
Ulk1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ulk1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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