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Gene: Tmod3 MGI:1355315

Gene Summary

Name:

tropomodulin 3

Synonyms:

U-Tmod, UTMOD, ubiquitous tropomodulin

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased circulating creatinine level		Tmod3^{tm1a(EUCOMM)Hmgu}	HET		Early adult	7.32×10^-05

Download data as: TSV XLS

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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 Tmod3 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 Tmod3 (0 diseases)
Human diseases predicted to be associated with Tmod3 (413 diseases)

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

The table below shows human diseases predicted to be associated to Tmod3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia	ORPHA:46532
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
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
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic...	OMIM:615631
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El...	OMIM:615234
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly	ORPHA:75563
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob...	ORPHA:848
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Reticulocy...	OMIM:266200
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly	OMIM:312500
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia	ORPHA:163596
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg...	OMIM:194380
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa...	ORPHA:507
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor	OMIM:613561
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ...	OMIM:613839
Evans Syndrome	Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor	ORPHA:56425
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ...	ORPHA:231222
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto...	ORPHA:300298
Nephronophthisis	Anemia	ORPHA:655
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c...	OMIM:206100
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome...	OMIM:613313
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Hepatomegaly, Abnormal neut...	ORPHA:3226
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice	OMIM:603552
Transaldolase Deficiency	Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia	ORPHA:101028
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphopenia, Hepa...	ORPHA:331206
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura	OMIM:620296
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb...	OMIM:616216
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Purpura	ORPHA:3204
Hemochromatosis, Type 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Ane...	OMIM:604250
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Acute Erythroid Leukemia	Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia	ORPHA:318
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor	ORPHA:99931
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of...	ORPHA:101096
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc...	OMIM:557000
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Hereditary Folate Malabsorption	Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Mu-Heavy Chain Disease	Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly	ORPHA:100024
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An...	OMIM:301310
Osteopetrosis, Autosomal Recessive 4	Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Autosomal Erythropoietic Protoporphyria	Erythema, Cholelithiasis, Decreased liver function, Microcytic anemia, Cirrhosis	ORPHA:79278
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly	ORPHA:28
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Splenomegaly	ORPHA:100025
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Bone Marrow Failure Syndrome 4	Anemia, Dry skin, Leukopenia, Thrombocytopenia	OMIM:618116
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l...	ORPHA:98849
Rosaï-Dorfman Disease	Anemia, Erythema	ORPHA:158014
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A...	ORPHA:86839
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Petechiae, Hepatome...	OMIM:612840
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Hemochromatosis, Type 4	Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis	OMIM:606069
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Petechiae, Splenomegaly, Hepa...	ORPHA:294
Sepsis In Premature Infants	Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt...	ORPHA:90051
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Thrombocytopenia	ORPHA:2123
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Tufted Angioma	Anemia, Purpura, Petechiae, Thrombocytopenia	ORPHA:1063
Fanconi Anemia, Complementation Group E	Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anemic pallor, Neutrop...	OMIM:600901
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia	ORPHA:276575
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Reticular Dysgenesis	Anemia, Leukopenia, Abnormality of neutrophils, Skin ulcer	ORPHA:33355
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276556
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Fanconi Anemia, Complementation Group A	Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anemic pallor, Neutrop...	OMIM:227650
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Optic Atrophy 1	Pallor	OMIM:165500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276580
Schnitzler Syndrome	Anemia, Hepatomegaly, Leukocytosis, Splenomegaly	ORPHA:37748
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Lipid ...	ORPHA:20
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir...	OMIM:246450
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia	OMIM:614742
Idiopathic Aplastic Anemia	Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor	ORPHA:329971
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Waldenström Macroglobulinemia	Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Leukemia, Abnormality of neutrophils, Purpura	ORPHA:33226
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Petechiae, Ecchymosis	OMIM:620514
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
American Trypanosomiasis	Hepatomegaly, Pallor, Splenomegaly	ORPHA:3386
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Prolidase Deficiency	Skin ulcer, Elevated circulating aspartate aminotransferase concentration, Petechiae, Splenomegal...	OMIM:170100
Wolman Disease	Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration	OMIM:179830
Orthostatic Hypotension 2	Anemia	OMIM:618182
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thromboc...	ORPHA:100026
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic...	ORPHA:288
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Fanconi Anemia, Complementation Group C	Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anemic pallor, Neutrop...	OMIM:227645
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Pallor, Thrombocytosis	ORPHA:134
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Neutrophilia, Anemia, Abnormality of the...	ORPHA:54251
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Oslam Syndrome	Anemia	OMIM:165660
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Omenn Syndrome	Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,...	ORPHA:39041
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts	OMIM:616307
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Sidero...	OMIM:617021
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi...	ORPHA:263455
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Thr...	ORPHA:3260
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Pallor, Polycythemia	OMIM:606812
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocytopenia, B l...	OMIM:603554
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen...	OMIM:275350
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased liver function, Neonatal death	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased liver function, Neonatal death	OMIM:618839
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Fanconi Anemia, Complementation Group D2	Annular pancreas, Pancytopenia, Prolonged G2 phase of cell cycle, Anemia, Reticulocytopenia, Anem...	OMIM:227646
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Bazex Syndrome	Anemia, Scaling skin	ORPHA:166113
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Desmoplastic Small Round Cell Tumor	Anemia, Hepatomegaly, Neoplasm of the pancreas, Abnormal peritoneum morphology	ORPHA:83469
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Neutrophilic Dermatosis, Acute Febrile	Anemia, Erythema, Pyoderma gangrenosum	OMIM:608068
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:277400
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Fanconi Anemia, Complementation Group I	Pallor, Neutropenia	OMIM:609053
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Nephronophthisis 9	Anemia	OMIM:613824
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Tempi Syndrome	Increased hematocrit, Facial erythema, Polycythemia	ORPHA:284227
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612926
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Dravet Syndrome	Pallor	ORPHA:33069
Hydatidiform Mole	Anemia	ORPHA:99927
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Neuroblastoma	Anemia, Anemic pallor, Thrombocytopenia	ORPHA:635
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:457077
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy...	ORPHA:2330
Abcd Syndrome	Polycythemia, Neonatal death	OMIM:600501
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Congenital Heart Block	Pallor	ORPHA:60041
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration	OMIM:618885
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Pituitary Apoplexy	Pallor, Normochromic anemia	ORPHA:95613
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia	OMIM:618165
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steatosis	ORPHA:348
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Sheehan Syndrome	Dry skin, Pallor, Normochromic anemia	ORPHA:91355
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa...	OMIM:260400
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hepatomegaly, Pallor, Splenomegaly	ORPHA:667
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Hepatic necrosis, Ci...	OMIM:127550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Von Hippel-Lindau Disease	Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas	ORPHA:892
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,...	OMIM:617591
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia	OMIM:618882
Relapsing Fever	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91547
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Infection-Related Hemolytic Uremic Syndrome	Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Hemolytic anemia	ORPHA:544482
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c...	OMIM:608836
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen	OMIM:235400
Incontinentia Pigmenti	Erythema, Eosinophilia, Leukocytosis, Pallor	OMIM:308300
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Tay-Sachs Disease	Pallor	OMIM:272800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallor, Hepatomegaly, Abnormal spleen ...	OMIM:619488
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Developmental And Epileptic Encephalopathy 50	Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis	OMIM:616457
Tangier Disease	Anemia, Dry skin, Hepatosplenomegaly, Thrombocytopenia	ORPHA:31150
Nephronophthisis 4	Anemia	OMIM:606966
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Gastrointestinal Stromal Tumor	Anemia, Abnormality of the liver	ORPHA:44890
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Abnormality of the pancreas	ORPHA:935
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Aapoaiv Amyloidosis	Elevated circulating creatinine concentration, Hyperlipidemia	ORPHA:439232
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Juvenile Nephropathic Cystinosis	Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ...	ORPHA:411634
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Hereditary Amyloidosis With Primary Renal Involvement	Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra...	ORPHA:85450
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Reduced haptoglobin level	OMIM:301110
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Goodpasture Syndrome	Anemia, Pallor	OMIM:233450
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Histiocytoid Cardiomyopathy	Hepatomegaly, Pallor	ORPHA:137675
Prolactinoma	Pallor	ORPHA:2965
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo...	ORPHA:90038
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:49041
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor	ORPHA:653
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Esophageal Atresia	Pallor	ORPHA:1199
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ...	ORPHA:99826
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:449395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ...	ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co...	OMIM:619534
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Pallor	ORPHA:99125

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 Tmod3

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 Tmod3.

No publications found that use IMPC mice or data for Tmod3.

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MGI Allele	Allele Type	Produced
Tmod3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, 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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