Gene Summary

Name:
tropomodulin 3
Synonyms:
U-Tmod,  UTMOD,  ubiquitous tropomodulin

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Tmod3tm1a(EUCOMM)Hmgu HET   Early adult 7.32×10-05

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Viewing: all phenotypes

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Azotemia, Familial
Azotemia OMIM:109160
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Pallor, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hy... OMIM:615234
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticu... OMIM:615631
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Pallor, Thro... ORPHA:75564
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Pallor, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnorma... ORPHA:848
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Pallor, Thrombocytopenia OMIM:613839
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Hyperlysinemia, Type I
Anemia OMIM:238700
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Pallor, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concent... OMIM:194380
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Hepatomegaly, Anemia, Abnormal hemoglobin ORPHA:163596
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Primary Myelofibrosis
Pancytopenia, Petechiae, Hepatosplenomegaly, Leukocytosis, Ecchymosis, Portal hypertension, Throm... ORPHA:824
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Ele... ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Pallor, Anisocytosis, Splenomegaly, Heinz bodie... OMIM:300908
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Evans Syndrome
Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Jaundice, Neutropenia in pre... ORPHA:1959
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Elevated hepatic transaminase, Abnormal ... ORPHA:98870
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Pallor, Cirrhosis, Sp... ORPHA:231222
Hereditary Spherocytosis
Cholelithiasis, Pallor, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundi... ORPHA:822
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Pallor, Anemia, Elevated hepatic iron concentration, Elevated hepatic transam... ORPHA:300298
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Nephronophthisis
Anemia ORPHA:655
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Atransferrinemia
Hypochromic anemia, Abnormality of the liver OMIM:209300
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Pallor, Thrombocytopenia OMIM:246400
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:98375
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Retinitis Pigmentosa 42
Pallor OMIM:612943
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Bleeding Disorder, Platelet-Type, 16
Petechiae, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia OMIM:187800
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Pallor, Megaloblastic anemia, Abnormal hemo... ORPHA:35858
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Retinitis Pigmentosa 60
Pallor OMIM:613983
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Beta-Thalassemia Major
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Cirrhosis, Hepat... ORPHA:231214
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... ORPHA:3226
Dominant Beta-Thalassemia
Hepatosplenomegaly, Pallor, Decreased mean corpuscular hemoglobin concentration, Cirrhosis, Hepat... ORPHA:231226
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Pallor, Autoimmun... ORPHA:331206
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Premature skin wrinkling, Cirrhosis, Thrombocytopenia ORPHA:101028
Optic Atrophy 9
Pallor OMIM:616289
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Pallor, Chronic lymphatic leukemia ORPHA:90033
Hemochromatosis, Type 3
Neutropenia, Anemia, Lymphopenia, Elevated hepatic transaminase, Cirrhosis, Purpura OMIM:604250
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Thrombocytopenia 5
Neutropenia, Anemia, Petechiae, Thrombocytopenia OMIM:616216
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly, Hepatomegaly ORPHA:100024
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Erythema, Decreased liver function, Cirrhosis ORPHA:79278
Aregenerative Anemia
Pancytopenia, Pallor, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of... ORPHA:101096
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... OMIM:615438
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Myelofibrosis
Pallor, Myeloproliferative disorder, Splenomegaly, Purpura OMIM:254450
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Idiopathic Pulmonary Hemosiderosis
Pallor, Iron deficiency anemia, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Rosaï-Dorfman Disease
Anemia, Erythema ORPHA:158014
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Tyrosinosis
Hypertyrosinemia OMIM:276800
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Extramedullary h... OMIM:612840
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Plummer-Vinson Syndrome
Pallor, Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hemochromatosis, Type 4
Cirrhosis, Anemia, Hepatic steatosis, Hepatomegaly OMIM:606069
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Malaria
Anemia, Thrombocytopenia ORPHA:673
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hepatomegaly ORPHA:100025
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia OMIM:177000
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Bone Marrow Failure Syndrome 4
Anemia, Dry skin, Leukopenia, Thrombocytopenia OMIM:618116
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of ... ORPHA:86839
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Optic Atrophy 1
Pallor OMIM:165500
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Retinitis Pigmentosa 70
Pallor OMIM:615922
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia OMIM:618165
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... OMIM:300367
Fumarase Deficiency
Pallor, Hepatic failure, Cholestasis, Polycythemia OMIM:606812
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Prolonged G2 phase of cell cycle, Ret... OMIM:600901
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Thrombocytopenia OMIM:613101
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Elevated hepatic transaminase, Thrombocytopenia ORPHA:858
Sepsis In Premature Infants
Petechiae, Leukocytosis, Purpura, Splenomegaly, Decreased liver function, Jaundice, Hepatomegaly,... ORPHA:90051
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Prolonged G2 phase of cell cycle, Ret... OMIM:227650
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Elevated... OMIM:278000
Retinitis Pigmentosa 27
Pallor OMIM:613750
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Chronic hemolytic anemia, Elliptocytosis, Decreased me... OMIM:617948
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Reticular Dysgenesis
Abnormality of neutrophils, Anemia, Skin ulcer, Leukopenia ORPHA:33355
Tufted Angioma
Purpura, Anemia, Petechiae, Thrombocytopenia ORPHA:1063
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Schnitzler Syndrome
Hepatomegaly, Anemia, Splenomegaly, Leukocytosis ORPHA:37748
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Senior-Loken Syndrome 1
Anemia OMIM:266900
Idiopathic Aplastic Anemia
Pancytopenia, Ecchymosis, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Retinitis Pigmentosa 73
Pallor OMIM:616544
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Focal Segmental Glomerulosclerosis 1
Anemia OMIM:603278
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hy... OMIM:603554
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... OMIM:232800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Prolonged G2 phase of cell cycle, Ret... OMIM:227645
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Neonatal Lupus Erythematosus
Pancytopenia, Hepatic failure, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,... ORPHA:398124
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Pallor, Purpura ORPHA:33226
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
American Trypanosomiasis
Pallor, Splenomegaly, Hepatomegaly ORPHA:3386
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Anemia, Myeloid leukemia, Aplastic anemia, Cirrhosis OMIM:614742
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Elevated hepatic transaminase, Liver abscess ORPHA:54251
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Prolidase Deficiency
Petechiae, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatomeg... OMIM:170100
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Anemia OMIM:209950
Senior-Loken Syndrome 4
Anemia OMIM:606996
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Decreased liver function, Hepatomegaly, Anemia, C... OMIM:606003
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Oslam Syndrome
Anemia OMIM:165660
Hypermanganesemia With Dystonia 1
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase, Polycythemia, Cirrhosis OMIM:613280
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Prolonged G2 phase of cell cycle, Ann... OMIM:227646
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, D... ORPHA:39041
Beta-Ketothiolase Deficiency
Thrombocytosis, Pallor, Leukocytosis, Hepatomegaly ORPHA:134
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Blackfan-Diamond Anemia
Leukopenia, Pallor, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red ce... ORPHA:124
Hyperinsulinism Due To Hnf4A Deficiency
Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hep... ORPHA:263455
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cinca Syndrome
Anemia, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Ecchymosis, Hemophagocytosis, Purpura, Splenomegaly, Decreased liver function, Jaundic... ORPHA:540
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Ecchymosis, Splenomegaly, Hemolytic anemia, Stomatocytosis, Increased mean platelet vo... OMIM:153670
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Neutrophilic Dermatosis, Acute Febrile
Anemia, Pyoderma gangrenosum, Erythema OMIM:608068
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Jaundice, Spherocytosis, Hemolytic anemia, S... ORPHA:71275
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Anemia, Decreased liver function OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Anemia, Decreased liver function OMIM:618839
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia OMIM:105600
Bazex Syndrome
Anemia, Scaling skin ORPHA:166113
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Stormorken Syndrome
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Desmoplastic Small Round Cell Tumor
Anemia, Abnormality of the peritoneum, Hepatomegaly, Neoplasm of the pancreas ORPHA:83469
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Tempi Syndrome
Increased hematocrit, Facial erythema, Polycythemia ORPHA:284227
Fanconi Anemia, Complementation Group I
Neutropenia, Pallor OMIM:609053
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Thrombocytopenia, Refractory anemia OMIM:231095
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251110
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Port... ORPHA:79124
Kasabach-Merritt Syndrome
Petechiae, Leukopenia, Purpura, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic ... ORPHA:2330
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia... OMIM:612541
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Neutropen... ORPHA:292
Retinitis Pigmentosa 51
Pallor OMIM:613464
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Cholestasis, Anemia, Hepatitis, Cholestatic liver disease, Hypochromic micro... ORPHA:440713
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Cirrhosi... ORPHA:77259
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Developmental And Epileptic Encephalopathy 50
Anemia, Schistocytosis, Acanthocytosis, Anisopoikilocytosis OMIM:616457
Hydatidiform Mole
Anemia ORPHA:99927
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia OMIM:251100
Diamond-Blackfan Anemia 1
Pallor, Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase leve... OMIM:105650
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Acute myeloid leukemia, Hepatomegaly, Neutropeni... OMIM:260400
Autosomal Recessive Malignant Osteopetrosis
Pallor, Anemia, Splenomegaly, Hepatomegaly ORPHA:667
Sheehan Syndrome
Pallor, Normochromic anemia, Dry skin ORPHA:91355
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Dravet Syndrome
Pallor ORPHA:33069
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Nephronophthisis 11
Anemia, Hepatic fibrosis OMIM:613550
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Elevated hepatic transaminase, Lymphopenia OMIM:617591
Combined Oxidative Phosphorylation Deficiency 41
Anemia OMIM:618838
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Anemia, Prolonged neonatal jaundice, Portal fibros... OMIM:619377
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Senior-Boichis Syndrome
Hepatosplenomegaly, Portal hypertension, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Von Hippel-Lindau Disease
Pancreatic cysts, Polycythemia, Pallor, Pancreatic islet cell adenoma, Neoplasm of the pancreas ORPHA:892
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Anemia, Aplastic anemia, Cirrhosis, Lymphopenia OMIM:127550
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Pancreatitis, Pallor, Thrombocytopenia ORPHA:544482
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholesterol concentration OMIM:618885
Retinitis Pigmentosa 75
Pallor OMIM:617023
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Incontinentia Pigmenti
Pallor, Eosinophilia, Erythema, Leukocytosis OMIM:308300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Hyperlipidemia, Elevated circulating creatinine concentration OMIM:235400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Hepatocellular Carcinoma
Abnormality of the liver, Portal hypertension, Thrombocytosis, Hepatomegaly, Jaundice, Anemia, He... ORPHA:88673
Tangier Disease
Hepatosplenomegaly, Anemia, Thrombocytopenia, Dry skin ORPHA:31150
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Nephronophthisis 4
Anemia OMIM:606966
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Degcags Syndrome
Pancytopenia, Hepatosplenomegaly, Leukopenia, Congenital hypoplastic anemia, Cholestasis, Hepatom... OMIM:619488
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Gastrointestinal Stromal Tumor
Anemia, Abnormality of the liver ORPHA:44890
Tay-Sachs Disease
Pallor OMIM:272800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Abnormality of the pancreas ORPHA:935
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Cutis laxa, Anemia, Pancreatitis, Throm... OMIM:222700
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Von Hippel-Lindau Syndrome
Abnormality of the liver, Neoplasm of the pancreas, Pancreatic cysts, Polycythemia OMIM:193300
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Childhood Absence Epilepsy
Pallor ORPHA:64280
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Rare Circulatory System Disease
Pallor ORPHA:98028
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Prolactinoma
Pallor ORPHA:2965
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Histiocytoid Cardiomyopathy
Pallor, Hepatomegaly ORPHA:137675
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:49041
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Jaundice, Anemia, Hemolytic anemia, Erythroid hyperplasia, Reticulocyto... ORPHA:447
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Multiple Endocrine Neoplasia Type 2
Pallor, Neoplasm of the liver ORPHA:653
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Esophageal Atresia
Pallor ORPHA:1199
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Anemia, Hepatic arteriovenous malformation OMIM:175050
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Marburg Hemorrhagic Fever
Hypokalemia, Elevated circulating creatinine concentration, Hyperamylasemia, Elevated circulating... ORPHA:99826
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration 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
Decreased retinol-binding protein level, Elevated circulating C-reactive protein concentration, E... ORPHA:449395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... OMIM:619534
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Elevated circulating C-reactive protein concentration, Elevated circulating creati... ORPHA:91500
Congenital Total Pulmonary Venous Return Anomaly
Pallor, Hepatomegaly 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
Tmod3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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