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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 (401 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	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo...	ORPHA:824
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Pallor, Hepatomegaly	OMIM:613561
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly	ORPHA:56425
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Nephronophthisis	Anemia	ORPHA:655
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hyperlysinemia, Type I	Anemia	OMIM:238700
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia	ORPHA:101028
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia, Purpura	ORPHA:3204
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura	OMIM:604250
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Hepatomegaly	ORPHA:100024
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ...	OMIM:314050
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly	ORPHA:99931
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Alpha-Heavy Chain Disease	Splenomegaly, Anemia, Hepatomegaly	ORPHA:100025
Rosaï-Dorfman Disease	Erythema, Anemia	ORPHA:158014
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Optic Atrophy 1	Pallor	OMIM:165500
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Dry skin, Anemia	OMIM:618116
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Erythema, Hepatic failure, Cholelithiasis	OMIM:177000
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemic pallor, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop...	OMIM:600901
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, ...	ORPHA:90051
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia, Hepatomegaly	ORPHA:2123
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemic pallor, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop...	OMIM:227650
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Tufted Angioma	Anemia, Petechiae, Thrombocytopenia, Purpura	ORPHA:1063
Reticular Dysgenesis	Anemia, Leukopenia, Skin ulcer, Abnormality of neutrophils	ORPHA:33355
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia, Hepatomegaly	ORPHA:37748
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Anemia	ORPHA:329971
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac...	ORPHA:20
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura	ORPHA:33226
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Fanconi Anemia, Complementation Group C	Pancytopenia, Anemic pallor, Prolonged G2 phase of cell cycle, Reticulocytopenia, Anemia, Neutrop...	OMIM:227645
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Anemia	ORPHA:75233
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia	ORPHA:88
American Trypanosomiasis	Splenomegaly, Pallor, Hepatomegaly	ORPHA:3386
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Cirrhosis, Myeloid leukemia, Anemia	OMIM:614742
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Orthostatic Hypotension 2	Anemia	OMIM:618182
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine	ORPHA:54057
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomeg...	OMIM:170100
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Anemia	ORPHA:54251
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly	ORPHA:134
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Oslam Syndrome	Anemia	OMIM:165660
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Abnormal lymphocyte morphology,...	ORPHA:39041
Fanconi Anemia, Complementation Group D2	Pancytopenia, Anemic pallor, Annular pancreas, Reticulocytopenia, Prolonged G2 phase of cell cycl...	OMIM:227646
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De...	OMIM:617021
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Anemia, Cholestat...	ORPHA:540
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
Preeclampsia	Elevated circulating creatinine concentration	ORPHA:275555
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ...	OMIM:603554
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Decreased liver function, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Decreased liver function, Anemia	OMIM:618839
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocy...	ORPHA:3260
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor	OMIM:606812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Anemia	OMIM:608068
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic anemia, N...	OMIM:304790
Bazex Syndrome	Scaling skin, Anemia	ORPHA:166113
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Fanconi Anemia, Complementation Group I	Pallor, Neutropenia	OMIM:609053
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Anemia	ORPHA:83469
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612924
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Tempi Syndrome	Increased hematocrit, Polycythemia, Facial erythema	ORPHA:284227
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Hydatidiform Mole	Anemia	ORPHA:99927
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he...	ORPHA:2330
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
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
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Dravet Syndrome	Pallor	ORPHA:33069
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Congenital Heart Block	Pallor	ORPHA:60041
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:612925
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia	OMIM:618885
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Pallor, Anemia, Hepatomegaly	ORPHA:667
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Persistence of...	OMIM:260400
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia	ORPHA:892
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Cirrhos...	OMIM:127550
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia	ORPHA:544482
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Incontinentia Pigmenti	Leukocytosis, Erythema, Eosinophilia, Pallor	OMIM:308300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Tay-Sachs Disease	Pallor	OMIM:272800
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Tangier Disease	Thrombocytopenia, Dry skin, Anemia, Hepatosplenomegaly	ORPHA:31150
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration	ORPHA:79126
Nephronophthisis 4	Anemia	OMIM:606966
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration	ORPHA:90060
Gastrointestinal Stromal Tumor	Abnormality of the liver, Anemia	ORPHA:44890
Thrombotic Thrombocytopenic Purpura, Hereditary	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:274150
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Childhood Absence Epilepsy	Pallor	ORPHA:64280
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal...	ORPHA:411634
Aapoaiv Amyloidosis	Hyperlipidemia, Elevated circulating creatinine concentration	ORPHA:439232
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration	OMIM:266900
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen	ORPHA:230
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Histiocytoid Cardiomyopathy	Hepatomegaly, Pallor	ORPHA:137675
Prolactinoma	Pallor	ORPHA:2965
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated circulating creatinine concentration	ORPHA:247691
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Igg4-Related Retroperitoneal Fibrosis	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor	ORPHA:653
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Esophageal Atresia	Pallor	ORPHA:1199
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration	ORPHA:340
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin...	ORPHA:99826
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Pauci-Immune Glomerulonephritis	Elevated circulating creatinine concentration	ORPHA:93126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Igg4-Related Kidney Disease	Elevated circulating creatinine concentration, Decreased retinol-binding protein level, Elevated ...	ORPHA:449395
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro...	ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	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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