Not currently registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Epo 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.

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

Disease Similarity of
Matching phenotypes Source
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907

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

Disease Similarity of
Matching phenotypes Source
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Chronic Pneumonitis Of Infancy
Cyanosis, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough, Hyperventilation, Respirato... ORPHA:91359
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Anemia, Sideroblastic, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... OMIM:618775
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Jaundice OMIM:312500
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly, Dyspnea ORPHA:75563
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Anemia ORPHA:655
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnor... ORPHA:848
Cardiomegaly OMIM:227150
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Hyperventilation, Hepatomegaly, Dyspnea OMIM:229700
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Fetal Parvovirus Syndrome
Hydrops fetalis, Hypertrophic cardiomyopathy, Anemia, Increased nuchal translucency, Ascites, Thr... ORPHA:295
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Apneic episodes in infancy, Episodic tachypnea, Hepatomegaly, Dyspnea, Hyperur... ORPHA:348
Pitt-Hopkins-Like Syndrome 2
Hyperventilation, Pulmonic stenosis OMIM:614325
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Holocarboxylase Synthetase Deficiency
Tachypnea, Hyperventilation, Thrombocytopenia, Hyperammonemia OMIM:253270
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Joubert Syndrome 8
Prolonged neonatal jaundice, Hyperventilation, Hepatomegaly OMIM:612291
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Elevated hepatic ... OMIM:616860
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Increased LDL cholesterol concentration, Dyspnea, Anemia, Bone-marrow... OMIM:607616
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Increased variability in muscle fiber diameter, Respiratory insufficiency, Abnormal Z disc morpho... OMIM:618654
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly, Jaundice, Reti... OMIM:224100
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Hepatomegaly, Dysp... ORPHA:255210
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Joubert Syndrome 17
Hyperventilation OMIM:614615
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Apnea, Hyperventilation OMIM:617903
Hypochromic anemia, Abnormality of the liver OMIM:209300
Hypokalemia, Hyponatremia, Abnormal blood ion concentration, Hypocalcemia, Tachypnea, Hyperventil... ORPHA:173
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Patent ductus arteriosus, Arrhythmia, Hypertension, Ventricular septal defe... OMIM:617021
Anemia, Congenital Dyserythropoietic, Type Ia
Reduced level of N-acetylglucosaminyltransferase II, Poikilocytosis, Anisocytosis, Splenomegaly, ... OMIM:224120
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Neck muscle hypertrophy, Hyperventilation ORPHA:420492
Adenosine deaminase, elevated, hemolytic anemia due to
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia, Dyspnea ORPHA:228312
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular hypertrophy, Congenital muscular dystrophy, Mus... ORPHA:324604
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Neutropenia, Anemi... OMIM:604250
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Elliptocytosis 3
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis OMIM:617948
Congenital Pulmonary Lymphangiectasia
Cyanosis, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pleural effusion, Pulmonary arterial hyp... ORPHA:2414
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Anemia, Lymphedema, Edema, Pericar... OMIM:617300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Anemia, Tel... ORPHA:101028
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia OMIM:187800
Refractory Anemia
Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anemia, Anemia of inadequate prod... ORPHA:98826
Pitt-Hopkins-Like Syndrome 1
Hyperventilation OMIM:610042
Hemochromatosis Type 2
Dilated cardiomyopathy, Increased circulating ferritin concentration, Elevated transferrin satura... ORPHA:79230
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Elevated hepatic transaminase OMIM:300752
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly,... OMIM:602390
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Rett Syndrome
Apnea, Intermittent hyperventilation, Skeletal muscle atrophy OMIM:312750
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Biotinidase Deficiency
Limb muscle weakness, Hyperventilation, Respiratory distress, Apnea, Hyperammonemia ORPHA:79241
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Elevated transferr... OMIM:606069
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Anemia, Polyhydramnios, Pericarditis, Ab... ORPHA:163596
Cntnap2-Related Developmental And Epileptic Encephalopathy
Intermittent hyperventilation, Hepatomegaly ORPHA:163681
Spherocytosis, Type 5
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612690
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Anemia, Polyhydramnios, Ventricular septal ... ORPHA:3405
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Muscular dystrophy, Respiratory failure, Respiratory... OMIM:310200
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Atrial septal defect, Sleep apnea, Hyperventilation, Central apnea ORPHA:522077
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Hyperventilation ORPHA:98784
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Po... ORPHA:3202
Encephalitis Lethargica
Upper limb muscle weakness, Hyperventilation ORPHA:83600
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Childhood Absence Epilepsy
Hyperventilation ORPHA:64280
Pitt-Hopkins Syndrome
Acrocyanosis, Sleep apnea, Hyperventilation, Abnormal pattern of respiration ORPHA:2896
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231214
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia, Lymphedema, Secundum atrial septal de... OMIM:223350
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Dyspnea, Acute leukemia, Thrombocyt... ORPHA:231401
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Acute hepatic failure, Anemia, Elevated hepatic transaminase, Ma... OMIM:615438
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Splenomegaly, Pleural effusion, Hepatomegaly, Cardi... OMIM:235200
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Pedal... ORPHA:563
Cocaine Intoxication
Rhabdomyolysis, Tachypnea, Cough, Elevated circulating creatine kinase concentration, Hyperventil... ORPHA:90068
Pitt-Hopkins Syndrome
Intermittent hyperventilation, Hyperventilation OMIM:610954
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Thrombocytopenia OMIM:603552
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Acute Liver Failure
Abnormal respiratory system physiology, Abnormal pattern of respiration, Hepatocellular necrosis,... ORPHA:90062
Bethlem Myopathy
Reduced muscle collagen VI, Hypoventilation, Scapular winging, Flexion contracture, Muscular dyst... ORPHA:610
Developmental And Epileptic Encephalopathy 2
Hyperventilation OMIM:300672
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Hepatosplenomegaly, Circulating nucleated red blood cells, Poiki... OMIM:613673
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Thrombocytos... ORPHA:75564
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Restrictive v... OMIM:607155
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Cyanosis, Respiratory fail... ORPHA:555874
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hypoxemia, Splenomegaly, Hepa... OMIM:603903
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestina... ORPHA:90308
Immunodeficiency 27A
Hepatosplenomegaly, Pneumonia, Histiocytosis, Leukocytosis, Thrombocytosis, Splenomegaly, Abnorma... OMIM:209950
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Splenomegaly, Hepatomegaly ORPHA:100024
Formiminoglutamic Aciduria
Atrial septal defect, Megaloblastic anemia, Anemia ORPHA:51208
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Hypoxemia, Splenomegaly, Hepatomegaly, Pleural effusio... OMIM:612387
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Abnormality o... OMIM:231100
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Ullrich Congenital Muscular Dystrophy 2
Flexion contracture, Nocturnal hypoventilation, Congenital muscular dystrophy, Increased variabil... OMIM:616470
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Cardiomegaly, Leukocytosis, Lymphadenitis, Respirat... OMIM:618886
Rigid Spine Muscular Dystrophy 1
Minicore myopathy, Restrictive ventilatory defect, Flexion contracture, Nocturnal hypoventilation... OMIM:602771
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... OMIM:109270
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, Hypoventilation, Skeletal muscle atrophy, Sleep apnea, Hand muscle w... ORPHA:98915
Rh Deficiency Syndrome
Reticulocytosis, Macrocytic anemia, Hepatosplenomegaly, Hypoxemia, Tachypnea, Anisocytosis, Jaund... ORPHA:71275
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Portal hypertension, Cholangiocarcinoma, Splenomega... ORPHA:465508
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation OMIM:300749
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Respiratory distress, Pancreatit... ORPHA:79312
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Ullrich Congenital Muscular Dystrophy 1
Flexion contracture, Nocturnal hypoventilation, Congenital muscular dystrophy, Muscle fiber necro... OMIM:254090
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Congenital hepatic fib... ORPHA:446
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly ORPHA:28
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly, Patent ductus arteriosus ORPHA:2123
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Spherocytosis, Type 4
Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cyanosis, Hypoxemia, Atrial septal defect, Biventricular hyp... ORPHA:860
Congenital Gerbode Defect
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Constrictive pericarditis,... ORPHA:99095
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Abnormal heart morphology, Anemia, Ascites, Oligohydramnios, Thrombocyt... OMIM:608104
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Proximal Spinal Muscular Atrophy
Hypoventilation, Restrictive ventilatory defect, Flexion contracture, Multiple joint contractures... ORPHA:70
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Cardiomyopathy, Pancreatitis, Respiratory in... ORPHA:27
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardiomegaly, Thrombocytopenia ORPHA:858
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Increased total iron binding capacity, Abnormal erythro... ORPHA:98870
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Increased DLC... ORPHA:90060
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:88643
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, My... ORPHA:3287
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Ascites, Bacterial endocarditis, Jaundice, Exertional dyspnea, Pulmo... ORPHA:615
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Anemia OMIM:618838
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Crackles, Respiratory failure, Hepatomegaly, ... ORPHA:99931
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Apnea, Hypoventilation, Hepatosplenomegaly, Atrial septal defect, Hepatomegaly, Respiratory distr... ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Myopathy, Cardiomyopathy, Cardi... OMIM:617713
Cap Myopathy
Lower limb amyotrophy, Lower limb muscle weakness, Generalized amyotrophy, Increased variability ... ORPHA:171881
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Apnea, Recurrent aspiration pneumonia OMIM:230900
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Leukopenia, Periportal fibrosis, Splenom... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Iiia
Anemia of inadequate production, Congenital hypoplastic anemia, Macrocytic anemia OMIM:105600
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Arrhythmia, Splenomegaly, Neutropenia, Abnormal heart morph... ORPHA:398124
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia OMIM:618165
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Cyanosis, Patent foramen ovale, Hypoxemia, Atrial septal defect, Muscul... ORPHA:439
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, A... OMIM:603554
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Exertional dyspnea, Increased red blood... OMIM:133100
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Typical Nemaline Myopathy
Nemaline bodies, Flexion contracture, Foot dorsiflexor weakness, Nocturnal hypoventilation, Limb-... ORPHA:171436
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Crackles, Cough, Dyspnea, Anemia, Obstructi... OMIM:614742
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Polyhydramnios, Edema, Ventricular septal defect OMIM:607598
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis OMIM:268150
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Focal Segmental Glomerulosclerosis 1
Anemia, Edema, Hypertension OMIM:603278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Hepatos... ORPHA:158057
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Hyperalaninemia OMIM:619064
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Port... ORPHA:824
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Rhinitis, A... ORPHA:507
Glycogen Storage Disease Ii
Firm muscles, Splenomegaly, Hepatomegaly, Respiratory insufficiency, Macroglossia, Dyspnea, Eleva... OMIM:232300
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Hydrops fetalis, Myocarditis, Pleural e... ORPHA:292
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Tachypnea, Respiratory failur... OMIM:618278
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Cardiomyopathy, Familial Hypertrophic, 4
Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Dyspnea, Myopathy, Ventricular hypertrophy, V... OMIM:115197
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Reduced muscle carnitine level, Hypertrophic cardi... OMIM:212140
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Glycogen Storage Disease Iv
Hepatosplenomegaly, Portal hypertension, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Ascites... OMIM:232500
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Flexion contracture, Congenital muscular dystrophy, Aspiration, Absent... ORPHA:258
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Atrial septal d... OMIM:606003
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... ORPHA:158061
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Pedal edema, Ventricu... ORPHA:2299
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Cyanosis, Recurrent pneumonia, Displacement of the papill... ORPHA:1329
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Respiratory distress, Pancreatitis, Thrombocytopenia, Hyperamm... ORPHA:289916
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Limb hypertonia, Perimembranous ventricular septal defect, Hyperal... OMIM:619170
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Dyspnea, Pulmonary arterial hypertens... OMIM:230800
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Fixed Subaortic Stenosis
Bacterial endocarditis, Pulmonic stenosis, Dyspnea, Exertional dyspnea, Abnormal heart morphology... ORPHA:3092
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Hypocalcemia, Ventricular septal defect, Ca... OMIM:601005
Danon Disease
Dilated cardiomyopathy, Generalized amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic abnor... OMIM:300257
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Tachypnea, Hepatomegaly, Dec... OMIM:201475
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Hepatomegaly, ... ORPHA:822
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Anemia, Nonimmune hydrops fetalis, Cardiomyopathy OMIM:618839
Orotic Aciduria
Poikilocytosis, Atrial septal defect, Folate-unresponsive megaloblastic anemia, Anisocytosis, Ven... OMIM:258900
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency, Skeletal muscle atrophy ORPHA:2942
Senior-Loken Syndrome 1
Anemia OMIM:266900
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Anemia, Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy OMIM:618835
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Abnormal heart morphology, Respiratory distress, Hypoventilation, Asp... ORPHA:314655
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Cirrhosis, ... OMIM:613280
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Anemia, Lymphedema, Transient ischem... OMIM:301500
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Elevated hepatic transaminase, Liver abscess ORPHA:54251
Drug-Induced Autoimmune Hemolytic Anemia
Exertional dyspnea, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Dyspnea, El... ORPHA:231111
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Anemia, T... OMIM:604290
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Patent ductus arteriosus, Mitral regurgitation, Atrial septal defect, Er... OMIM:612541
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Abnormality of the liver, Portal hypertension, Decreased circulating ferritin conce... ORPHA:309854
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Central Hypoventilation Syndrome, Congenital, 1
Apnea, Nocturnal hypoventilation, Hypoxemia, Hypercapnia, Hypoventilation, Central hypoventilation OMIM:209880
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Facial palsy, Stridor, Arthrogryposis multiplex congenita, Apnea OMIM:617143
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Hyponatremia, Leukopenia, Respiratory failure, Hyperuricemia, Pulmon... OMIM:613845
Athabaskan Brainstem Dysgenesis Syndrome
Central hypoventilation OMIM:601536
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Abnormal heart morphology, Decreased serum iron, Flexion contrac... ORPHA:391372
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Foot dorsiflexor weakness, Restrictive ventilatory defect, Aspiration, Hy... OMIM:164310
Coronary Arterial Fistula
Right ventricular dilatation, Patent foramen ovale, Atrial septal defect, Bacterial endocarditis,... ORPHA:2041
Triosephosphate Isomerase Deficiency
Cholelithiasis, Macrocytic anemia, Normocytic anemia, Skeletal muscle atrophy, Cholecystitis, Res... OMIM:615512
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Myopathy, Nonspherocyti... OMIM:611881
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Biventricular hypertrophy, Macroglossia, Myopathy, Cardiomyopathy, Ascites, Cardiomegaly OMIM:261740
Syndromic Diarrhea
Tetralogy of Fallot, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Atrial septal defect, T... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Hepatomegaly OMIM:606056
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Sitosterolemia 1
Abnormality of the liver, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circulati... OMIM:210250
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Tachypnea, Splenomegaly, Hepatomegaly, Dyspnea, Anemia, Calcinosis, Hypophosphatemia OMIM:239200
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Nocturnal hypoventilation, Respiratory insufficiency, Dyspnea, Stridor, Resp... OMIM:211530
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Respiratory failure, Hypertrophic cardiomyopathy, Pulmonic stenosis, Anem... ORPHA:70474
Stevenson-Carey Syndrome
Atrial septal defect, Camptodactyly, Central hypoventilation, Joint contracture of the hand OMIM:611961
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Ascites, Hypoventilation, Spontaneous pneumothorax, Hyp... ORPHA:731
Interstitial Lung And Liver Disease
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, ... OMIM:615486
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Portal hypertension, Leukemia, E... ORPHA:98850
Propionic Acidemia
Pancytopenia, Tachypnea, Limb hypertonia, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Panc... OMIM:606054
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Midsystolic murmur, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Abnormality of the pancreas, Cholestasis, Thrombocytosis, Hypermethioninemia... OMIM:222470
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Gaucher Disease Type 1
Abnormal myocardium morphology, Pancytopenia, Leukopenia, Splenomegaly, Pulmonary arterial hypert... ORPHA:77259
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Facial hypotonia, Hypertrophic cardiomyopathy... ORPHA:308552
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Diamond-Blackfan Anemia 11
Neutropenia, Anemia, Anemia of inadequate production, Bicuspid aortic valve OMIM:614900
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Leukocytosis, Abnormal pericardium morphology, Congestive heart failur... ORPHA:67
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenom... ORPHA:100026
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Peripheral edema, Gastrointestinal hemorrhage, Arrhyt... ORPHA:85443
Lymphatic Malformation 6
Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Splenomegaly, Pleural effusion, Gen... OMIM:616843
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Sepsis In Premature Infants
Cyanosis, Abnormal respiratory system physiology, Leukocytosis, Splenomegaly, Hepatomegaly, Eleva... ORPHA:90051
Trichohepatoenteric Syndrome 2
Decreased serum iron, Cirrhosis, Hepatitis, Hepatomegaly OMIM:614602
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Castleman Disease
Abdominal mass, Elevated circulating C-reactive protein concentration, Cough, Jaundice, Dyspnea, ... ORPHA:160
Oslam Syndrome
Anemia OMIM:165660
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Dyspnea, Neutropenia, Anemia, Thrombocytopenia OMIM:246400
Kaposiform Lymphangiomatosis
Epistaxis, Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Cou... ORPHA:464329
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Perry Syndrome
Central hypoventilation ORPHA:178509
Absence Of The Pulmonary Artery
Cyanosis, Nonproductive cough, Tetralogy of Fallot, Recurrent pneumonia, Patent foramen ovale, At... ORPHA:980
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Increased circulating ferritin concentration, Decreased serum iron, Abnormal pancreas morphology,... ORPHA:48818
Amyotrophic Lateral Sclerosis 21
Aspiration, Increased variability in muscle fiber diameter, Hand muscle weakness, Elevated circul... OMIM:606070
Triglyceride Deposit Cardiomyovasculopathy
Skeletal myopathy, Coronary artery stenosis, Hyperlipidemia, Vacuolated lymphocytes, Abnormality ... ORPHA:565612
Gracile Syndrome
Increased circulating ferritin concentration, Hepatic steatosis, Cholestasis, Elevated hepatic ir... ORPHA:53693
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Pleural effusion, Anemia, Generalized edema, Ascite... ORPHA:90362
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Anemia, Myopathy, Asplen... OMIM:185070
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Peroneal muscle weakness, Central hypoventilation, Distal amyotrophy OMIM:118301
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Facial paralysis, Thrombocytopenia, Chronic rhinitis du... OMIM:259710
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Methylmalonic acidemia, Hepatomegaly, Neutropenia, Anemia, Respiratory distress, Hy... OMIM:251110
Cirrhotic Cardiomyopathy
Right atrial enlargement, Increased circulating NT-proBNP concentration, Abnormal A-type atrial n... ORPHA:57777
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Steroid-responsive anemia, Anemia, Ventricular septal defect, Macrocyti... OMIM:613309
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Flexion contracture, Apneic episodes in infancy, Atrial septal ... OMIM:601803
Vocal Cord And Pharyngeal Distal Myopathy
Abnormality of the extraocular muscles, Aspiration, Mildly elevated creatine kinase, Abnormal mor... ORPHA:600
Desmoplastic Small Round Cell Tumor
Anemia, Abnormality of the peritoneum, Hepatomegaly, Neoplasm of the pancreas ORPHA:83469
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Flexion contracture, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, L... OMIM:617591
Gaucher Disease Type 3
Abnormal myocardium morphology, Pancytopenia, Abnormal heart valve morphology, Hydrops fetalis, S... ORPHA:77261
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Methylmalonic acidemia, Hepatomegaly, Neutropenia, Anemia, Respiratory distress, Hy... OMIM:251100
Tangier Disease
Left ventricular hypertrophy, Hepatosplenomegaly, Coronary artery stenosis, Orange discolored ton... ORPHA:31150
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Central hypoventilation ORPHA:251992
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis, Anemia OMIM:608068
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Mitral valve calcification, Cardiomega... OMIM:231005
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Abnormal heart valve morphology, Pneumonia, Cholecy... ORPHA:781
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Pancytopenia, Acute myeloid leukemia, Hepatomegaly, Neutropeni... OMIM:260400
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Cholestasis, Reduced number of intrahepatic bile ducts, ... ORPHA:84081
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Refractory sideroblastic anemia, Hepatic failure... OMIM:557000
Developmental And Epileptic Encephalopathy 50
Anemia, Schistocytosis, Acanthocytosis, Anisopoikilocytosis OMIM:616457
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Splenomegaly, Hemolytic anemia, Stomatocytosis, Increased mean platelet volume OMIM:153670
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Recurrent pneumonia, Sleep apnea, Hip contracture, Hypoventilation, Elbow flexion contracture OMIM:618493
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Elbow flexion contracture, Histiocytosis, Atrial sep... OMIM:602782
Good Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Abnormal leukocyte morphology, Anemia, Aplasia/Hypopla... ORPHA:169105
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Pulmonary arterial hypertension, Hypoplastic left heart, Bicus... ORPHA:1457
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Proximal muscle weakness in ... ORPHA:268
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Decreased serum zinc, Flexion contracture, Skeletal muscle atrophy, Decre... ORPHA:89842
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation OMIM:301790
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Abnormal T-wave, Right ventricular dilatation, Abnormal left ventricula... ORPHA:70591
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, N... ORPHA:158048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia OMIM:612926
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Reticulocytosis, Leukopenia, Decreased serum iron, Increased blood urea nitrogen, P... ORPHA:447
Haddad Syndrome
Central hypoventilation, Central sleep apnea, Breathing dysregulation ORPHA:99803
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased HDL cholesterol concentration,... ORPHA:247598
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Patent foramen ovale, Atrial septal defect, Decreased serum iron, Central sleep ... ORPHA:438213
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Glycogen Storage Disease Due To Acid Maltase Deficiency
Flexion contracture, Facial hypotonia, Lower limb muscle weakness, Sleep apnea, Hypertrophic card... ORPHA:365
Nephronophthisis 11
Anemia, Hepatic fibrosis OMIM:613550
Heterotaxy, Visceral, 12, Autosomal
Complete atrioventricular canal defect, Patent foramen ovale, Patent ductus arteriosus, Atrial se... OMIM:619702
Truncus Arteriosus
Cyanosis, Truncus arteriosus, Tetralogy of Fallot, Abnormal heart valve morphology, Atrial septal... ORPHA:3384
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Hyperlipidemia, Hyponatremia, Asthma, Obstructive sleep apnea, Cardiorespiratory arrest... ORPHA:293987
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Cholestasis,... OMIM:300972
Lysinuric Protein Intolerance
Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia, Decreased HDL cholesterol concentration, ... ORPHA:470
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Foot dorsiflexor weakness, Lower limb muscle weakness, Generalized limb muscle atrophy, Abnormal ... ORPHA:521411
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Hepatocellular Carcinoma
Hypokalemia, Polycythemia, Hyponatremia, Portal hypertension, Hypercalcemia, Abnormality of the l... ORPHA:88673
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration ORPHA:209919
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Charcot-Marie-Tooth Disease Type 4C
Foot dorsiflexor weakness, Respiratory insufficiency, Distal amyotrophy, Hypoventilation, Facial ... ORPHA:99949
Neuromuscular Oculoauditory Syndrome
Aspiration, Muscle fiber necrosis, EMG: myopathic abnormalities, Knee flexion contracture, Elevat... OMIM:618733
Prader-Willi Syndrome
Sleep apnea, Hypoventilation, Decreased muscle mass OMIM:176270
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Splenomegaly, Hepatomegaly OMIM:201100
Wilson Disease
Hepatomegaly, Atypical or prolonged hepatitis, Hemolytic anemia, Cirrhosis, High nonceruloplasmin... OMIM:277900
Opitz Gbbb Syndrome
Abnormal heart morphology, Aspiration OMIM:300000
Kasabach-Merritt Syndrome
Leukopenia, Neutropenia, Anemia, Reticulocytosis, Microangiopathic hemolytic anemia, Hepatic hema... ORPHA:2330
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Esophageal Atresia
Cyanosis, Tetralogy of Fallot, Restrictive ventilatory defect, Aspiration, Laryngotracheomalacia,... ORPHA:1199
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Spermatogenic Failure 15
Aspiration OMIM:616950
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic steatosis, Decreased serum zinc, Hepatosplenomegaly, Cholestasis, Hepatic fibrosis ORPHA:541423
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Nocturnal hypoventilation, Atrial septal defect, Macroglossia, Abnormal heart morphology, Ventric... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Nocturnal hypoventilation, Atrial septal defect, Macroglossia, Abnormal heart morphology, Ventric... ORPHA:352665
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Abnormal blood zinc concentration, Abnormality of the liver, Hypomanganesemia, Knee flexion contr... ORPHA:468699
Halperin-Birk Syndrome
Perimembranous ventricular septal defect, Aspiration, Flexion contracture, Congenital diaphragmat... OMIM:618651
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, High nonceruloplasmin-bound serum copper, Limb hypertonia, Thrombocytopenia ORPHA:457351
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:435934
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Anemia, Mitral regurgitation, Telangiectasia, Mitral valve prolapse, Epistaxis OMIM:175050
Goodpasture Syndrome
Cyanosis, Restrictive ventilatory defect, Increased DLCO, Increased blood urea nitrogen, Crackles... OMIM:233450
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Tay-Sachs Disease
Aspiration OMIM:272800
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Abnormal heart morphology, Decreased muscle mass, Obstructive sleep apnea, Aspiration ORPHA:96182
Alternating Hemiplegia Of Childhood
Facial hypotonia, Aspiration, Cardiomyopathy, Respiratory distress, Apnea ORPHA:2131
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Limb hypertonia, Aspiration OMIM:618922
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Flexion contracture, Aspiration ORPHA:2148
Pontine Tegmental Cap Dysplasia
Facial palsy, Aspiration OMIM:614688
Opitz gbbb syndrome, type II
Absent gallbladder, Aspiration, Diastasis recti, Atrial septal defect, Pulmonary arterial hyperte... OMIM:145410
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Aspiration, Cholestasis, Double outlet right ventricle, Hypoplastic left heart, Ventricular septa... OMIM:619503
Bilateral Perisylvian Polymicrogyria
Distal arthrogryposis, Flexion contracture, Abnormality of masticatory muscle, Aspiration, Limb h... ORPHA:98889
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Joint contractures involving the joints of the feet, Flexion contracture,... ORPHA:79408


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 Epo

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 Epo.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Brain erythropoietin fine-tunes a counterbalance between neurodifferentiation and microglia in the adult hippocampus. Cell reports (August 2021) Eportm1a(KOMP)Wtsi 34433021
Functional hypoxia drives neuroplasticity and neurogenesis via brain erythropoietin. Nature communications (March 2020) Eportm1a(KOMP)Wtsi Eportm1c(KOMP)Wtsi Eportm1d(KOMP)Wtsi PMC7062779
Erythropoietin inhibits SGK1-dependent TH17 induction and TH17-dependent kidney disease. JCI insight (April 2019) Eportm1a(KOMP)Wtsi PMC6542617

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MGI Allele Allele Type Produced
Epotm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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