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Gene: Epb42 MGI:95402

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
erythrocyte membrane protein band 4.2
Synonyms:
Epb4.2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Epb42 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 Epb42 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822

The table below shows human diseases predicted to be associated to Epb42 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Hyperammonemia, Dehydration ORPHA:28
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... ORPHA:288
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... OMIM:618892
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... OMIM:194380
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehydration, Neutropenia, Pancreati... ORPHA:79312
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Reticular Dysgenesis
Abnormality of neutrophils, Dehydration, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia ORPHA:33355
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Leukopenia, Pancr... ORPHA:27
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Anemia, Oligohy... ORPHA:163596
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia ORPHA:1195
Nephronophthisis
Anemia ORPHA:655
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:618015
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:295
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Hyperlysinemia, Type I
Hyperlysinemia, Anemia OMIM:238700
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... OMIM:232800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Edema, Increased circulating ferritin concentration, Thromboc... OMIM:603552
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Decreased LDL cholesterol concentration, Acanthocytosis OMIM:607236
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Isovaleric Acidemia
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... OMIM:274150
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Dehydration... OMIM:251110
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
8P11.2 Deletion Syndrome
Splenomegaly, Hemolytic anemia, Spherocytosis ORPHA:251066
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Abetalipoproteinemia
Abetalipoproteinemia, Acanthocytosis OMIM:200100
Transaldolase Deficiency
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Abnormal circulating glutamine conc... ORPHA:101028
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Propionic Acidemia
Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Dehydration, Hyperglycinemia, Neutr... OMIM:606054
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Focal Segmental Glomerulosclerosis 1
Edema, Hyperlipidemia, Hypoalbuminemia, Pleural effusion, Ascites, Anemia OMIM:603278
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
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
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
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ... OMIM:617021
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin co... OMIM:618398
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Formiminoglutamic Aciduria
Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia ORPHA:51208
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia OMIM:612528
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Dehydration, Leukopenia, Hyperglycinemia, N... OMIM:251000
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema OMIM:223350
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Dehydration, Iron deficiency anemia, Abnorm... ORPHA:1667
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Hyperammonemia, Dehydration... OMIM:251100
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Polyhydramnios, Conjugated hyperbilirubinemia, Splenomegaly, Jaun... OMIM:608885
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios ORPHA:1046
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Familial Renal Glucosuria
Elevated hemoglobin A1c, Dehydration ORPHA:69076
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:615085
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:609628
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... OMIM:300842
Lesch-Nyhan Syndrome
Hyperuricemia, Anemia ORPHA:510
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Cholelithiasis, Increased erythrocyte protoporphyrin concentration OMIM:300752
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Dehydration, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Tempi Syndrome
Transudative pleural effusion, Ascites, Increased hematocrit, Polycythemia ORPHA:284227
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis OMIM:200150
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia OMIM:616457
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis OMIM:619462
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia OMIM:121270
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia OMIM:229100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Dend Syndrome
Elevated hemoglobin A1c, Dehydration ORPHA:79134
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia OMIM:245900
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leukocytosis, Ly... OMIM:607115
Isobutyryl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dehydration, Decreased circulating carnitine co... ORPHA:79159
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia ORPHA:2668
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia OMIM:614514
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia ORPHA:88
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Orthostatic Hypotension 2
Anemia OMIM:618182
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Anisocytosis, Edema, Abnormal circu... ORPHA:79277
Aceruloplasminemia
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Autosomal Erythropoietic Protoporphyria
Edema, Microcytic anemia, Abnormal circulating porphyrin concentration, Cirrhosis, Cholelithiasis ORPHA:79278
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplet... ORPHA:71
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Mitochondrial Complex I Deficiency, Nuclear Type 39
Oligohydramnios, Anemia, Cardiomegaly OMIM:620135
Pearson Syndrome
Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steato... ORPHA:699
Dopamine Beta-Hydroxylase Deficiency
Dehydration, Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen ORPHA:230
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Polyhydramnios, Hydrops fetalis, Anemia ORPHA:3405
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Edema OMIM:177000
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Oslam Syndrome
Anemia OMIM:165660
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:618116
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Edema, Leukocytosis, Jaundice, Lipid accumulation in hepatocyte... ORPHA:20
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Anemia OMIM:613092
Fibrodysplasia Ossificans Progressiva
Anemia ORPHA:337
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Senior-Loken Syndrome 4
Anemia OMIM:606996
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Genera... OMIM:267700
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Shigellosis
Hyponatremia, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, Dehydrati... ORPHA:810
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Beta-Ketothiolase Deficiency
Hepatomegaly, Edema, Leukocytosis, Hyperammonemia, Dehydration, Hyperuricemia, Thrombocytosis ORPHA:134
Sea-Blue Histiocytosis
Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocy... ORPHA:158029
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration ORPHA:289504
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:54251
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... OMIM:617780
Chronic Hiccup
Dehydration ORPHA:396
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Colchicine Poisoning
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypo... ORPHA:31824
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto... ORPHA:14
Autoimmune Lymphoproliferative Syndrome
Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-... ORPHA:3261
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Autosomal Agammaglobulinemia
Hepatitis, Dehydration, Neutropenia ORPHA:33110
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphang... OMIM:226300
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia ORPHA:2325
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia OMIM:615438
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Abnormality of the liver... ORPHA:2169
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... ORPHA:275761
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Leukocytosis, Hypoalb... ORPHA:2070
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... ORPHA:168577
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619046
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Lymphedema, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, ... OMIM:214900
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... OMIM:618886
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Increas... OMIM:603553
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, ... ORPHA:90362
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Dehydration OMIM:618958
Diabetes Mellitus, Permanent Neonatal, 4
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:618858
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume OMIM:619774
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... OMIM:300635
Hydatidiform Mole
Anemia ORPHA:99927
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620126
Central Diabetes Insipidus
Hyponatremia, Dehydration ORPHA:178029
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia OMIM:616271
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... ORPHA:97282
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Intermediate Osteopetrosis
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly ORPHA:210110
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Lymphocytosi... ORPHA:514
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... OMIM:614742
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:620125
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Corticosteroid-Binding Globulin Deficiency
Hypokalemia, Anemia OMIM:611489
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Isolated Agammaglobulinemia
Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp... ORPHA:229717
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Dehydration OMIM:251850
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:203400
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:610600
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ... OMIM:614034
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Dehydration, Periportal fibros... OMIM:263200
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Deh... ORPHA:94093
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Amme Complex
Elliptocytosis OMIM:300194
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Redu... OMIM:105600
Ollier Disease
Lymphangioma, Anemia ORPHA:296
Hypophosphatasia
Hypercalcemia, Anemia ORPHA:436
Enteric Anendocrinosis
Cholestatic liver disease, Portal hypertension, Dehydration ORPHA:83620
Diabetes Mellitus, Transient Neonatal, 3
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:610582
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Omenn Syndrome
Hepatomegaly, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocy... ORPHA:39041
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Dehydration OMIM:616069
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Polyhydramnios, Pericardial effusion, Thrombocytop... ORPHA:292
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopathy, Cervical l... ORPHA:3392
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia, Dehydration OMIM:264350
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Polyhydramnios, Neutropenia OMIM:612562
Hypercalcemia, Infantile, 1
Hypercalcemia, Dehydration OMIM:143880
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Anemia OMIM:618835
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... OMIM:127550
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Bazex Syndrome
Anemia, Edema ORPHA:166113
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, Anemia OMIM:618839
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Edema, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis... OMIM:608104
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Joint swelling, Cirrhosis, Acu... ORPHA:905
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia OMIM:615789
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... OMIM:607330
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia OMIM:614450
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Hypokalemia, Dehydration OMIM:602722
Hyperchlorhidrosis, Isolated
Hyponatremia, Hypernatremic dehydration, Hyperkalemia OMIM:143860
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration OMIM:177735
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Dehydration, Increased circulating renin level... ORPHA:171876
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:606176
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Edema, Splenomegaly, Lymphadenopathy OMIM:619183
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
C1Q Deficiency 2
Anemia, Elevated circulating C-reactive protein concentration OMIM:620321
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hydrops fetalis, Hyper... ORPHA:79282
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Polyhydramnios, Poikilocytosis, Acanthocytosis OMIM:618947
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Methylmalonyl-Coa Epimerase Deficiency
Elevated circulating palmitoleylcarnitine concentration, Dehydration, Hyperhomocystinemia OMIM:251120
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad... ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Periorbital edema, Thrombocytopenia, Splenomegaly, Lymphadeno... OMIM:617591
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia OMIM:226670
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia OMIM:618165
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Exocrine pancreatic insufficiency OMIM:609812
Dermotrichic Syndrome
Anemia ORPHA:99688
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... OMIM:606003
Junctional Epidermolysis Bullosa Inversa
Anemia ORPHA:79405
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Maturity-Onset Diabetes Of The Young, Type 13
Reduced C-peptide level, Elevated hemoglobin A1c OMIM:616329
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration ORPHA:556030
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:398124
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Lymphadenopathy,... ORPHA:3226
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... OMIM:617052
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis ORPHA:86818
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Anti-Glomerular Basement Membrane Disease
Anemia ORPHA:375
Neutrophilic Dermatosis, Acute Febrile
Anemia, Elevated circulating C-reactive protein concentration OMIM:608068
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... OMIM:214700
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... ORPHA:160
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension OMIM:620365
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... ORPHA:90041
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Anemia, Lymphedema ORPHA:2930
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Cystinosis
Hypokalemia, Dehydration, Portal hypertension, Hypophosphatemia ORPHA:213
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... OMIM:304790
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... ORPHA:2785
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Edema ORPHA:329971
Distal Renal Tubular Acidosis
Hemolytic anemia, Hypokalemia, Dehydration ORPHA:18
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Thromb... ORPHA:46059
Diamond-Blackfan Anemia
Acute myeloid leukemia, Nonimmune hydrops fetalis, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Shwachman-Diamond Syndrome
Normocytic anemia, Hepatomegaly, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute... ORPHA:811
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... ORPHA:97280
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration, Anemia, Hepatocellular carcinoma ORPHA:79273
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c OMIM:619278
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia OMIM:239200
Cerebrooculofacioskeletal Syndrome 1
Dehydration OMIM:214150
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Dehydration ORPHA:95427
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Diamond-Blackfan Anemia 10
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia OMIM:613309
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Hypocalcemia, Anemia ORPHA:53
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Hyp... ORPHA:47
Solitary Rectal Ulcer Syndrome
Anemia ORPHA:209964
Abcd Syndrome
Polycythemia OMIM:600501
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Anemia, Hypomagnesemia OMIM:244460
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Familial Cold Urticaria
Dehydration ORPHA:47045
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Anemia, Hepatomegaly, Hyperuricemia, Hyperammonemia OMIM:246450
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Anemia, Hyperglycinemi... OMIM:620358
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Persistence of hemoglobin F... OMIM:260400
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Aplasia/Hy... ORPHA:169105
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia OMIM:170100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia, Dehydration ORPHA:35710
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Dehydration OMIM:560000
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... ORPHA:85414
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... ORPHA:464329
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Attrv122I Amyloidosis
Left ventricular hypertrophy, Increased circulating NT-proBNP concentration, Anemia, Cardiomegaly ORPHA:85451
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hyperammonemia, Hype... ORPHA:3008
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Elevated circulating C-reactive protein concentration, Edema ORPHA:324964
Nephronophthisis 4
Anemia OMIM:606966
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Anemia OMIM:617244
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia OMIM:255125
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Leukocytosis, Hypoalbuminemia, Pleural empyema, Pleural effusion, Anemia ORPHA:67
Fish-Eye Disease
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly ORPHA:79292
Cholera
Hyponatremia, Abnormal blood ion concentration, Dehydration, Hypokalemia, Hypocalcemia ORPHA:173
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Polyhydramnios, Elliptocytosis, Anemia OMIM:300990
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Pantothenate Kinase-Associated Neurodegeneration
Abetalipoproteinemia, Acanthocytosis ORPHA:157850
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyper... OMIM:277380
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Adrenal Hypoplasia, Congenital
Hyponatremia, Dehydration OMIM:300200
Weismann-Netter Syndrome
Anemia ORPHA:3344
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Ascites, Anemia OMIM:615758
Severe Generalized Junctional Epidermolysis Bullosa
Dehydration, Abnormal blood ion concentration, Anemia, Edema ORPHA:79404
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Netherton Syndrome
Hypernatremic dehydration, Angioedema, Hypereosinophilia OMIM:256500
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Renal Hypoplasia, Bilateral
Hyponatremia, Edema, Hyperkalemia, Anemia, Oligohydramnios ORPHA:97362
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... OMIM:214500
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... OMIM:615895
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Anemia, Abnormality of circulating enzyme level ORPHA:93598
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperammonemia, Dehydration OMIM:615453
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... OMIM:615934
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Sandifer Syndrome
Anemia ORPHA:71272
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Dehydration OMIM:602199
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Anemia OMIM:266900
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... ORPHA:440713
Congenital Factor Ii Deficiency
Anemia ORPHA:325
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Dehydration, Anemia, Joint swelling, Hypokalemia, Hypophosphatemia, ... ORPHA:534
Harlequin Ichthyosis
Dehydration ORPHA:457
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Nephronophthisis 1
Anemia OMIM:256100
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Edema, Thrombocytopenia, Leu... ORPHA:90051
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Dehydrat... OMIM:219800
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Stiff-Person Syndrome
Anemia OMIM:184850
Microsporidiosis
Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract abnormality, He... ORPHA:2552
Lamellar Ichthyosis
Dehydration ORPHA:313
Senior-Boichis Syndrome
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Chole... ORPHA:84081
Mirage Syndrome
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Dehydration, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocri... OMIM:219700
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia OMIM:127000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration ORPHA:90791
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu... OMIM:276700
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Nephronophthisis 11
Hepatic fibrosis, Anemia OMIM:613550
Carney Triad
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy ORPHA:139411
Interstitial Lung And Liver Disease
Hepatomegaly, Hyperammonemia, Cholestasis, Hepatic fibrosis, Cirrhosis, Thrombocytosis, Hepatic s... OMIM:615486
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230900
Osteopetrosis, Autosomal Recessive 7
Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly OMIM:612301
Chédiak-Higashi Syndrome
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia... ORPHA:167
Arteriosclerosis, Severe Juvenile
Anemia OMIM:208060
Wilson Disease
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Bartter Syndrome, Type 3
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Dehydration OMIM:607364
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia, Hypertonic dehydration OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypernatremia, Hypertonic dehydration OMIM:304800
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Dehydration, Hypokalem... ORPHA:411634
Congenital Tufting Enteropathy
Cholestatic liver disease, Dehydration ORPHA:92050
Fanconi Anemia, Complementation Group P
Pancytopenia, Anemia OMIM:613951
Netherton Syndrome
Dehydration ORPHA:634
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hydrops fetalis, Anemia, Thromboc... ORPHA:77261
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:222700
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Dehydration, Hypophosphatemia ORPHA:411629
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... ORPHA:37042
Eisenmenger Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemi... ORPHA:97214
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat... OMIM:618372
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyhydramnios, Dehydration, H... OMIM:601678
Q Fever
Hepatomegaly, Pericardial effusion, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly... ORPHA:781
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Anemia ORPHA:935
Fanconi Anemia, Complementation Group F
Polyhydramnios, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... OMIM:612541
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... OMIM:615688
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Palpebral edema, Elevated circulating C-reactive prote... ORPHA:50918
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Bartter Syndrome Type 4
Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Increased circulating reni... ORPHA:89938
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia, Neutropenia, Annu... OMIM:227646
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Edema, Pericardial eff... OMIM:615846
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint swelling, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Neurodegeneration With Brain Iron Accumulation 1
Acanthocytosis OMIM:234200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... ORPHA:470
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Dehydration, Hypophosphatemia, Hypokalemia, Decreased circulating c... ORPHA:3337
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Dehydration, Abnormal circulating cholesterol concentration, Increase... ORPHA:168558
Oligomeganephronia
Elevated circulating creatinine concentration, Dehydration ORPHA:2260
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyponatremia, Hyperkalemia, Dehydration, Abnormal circulating cholesterol concentration, Increase... ORPHA:289548
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Polyhydramnios, Dehydration, Hypochloremia, H... OMIM:241200
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Gastrointestinal Stromal Tumor
Abnormality of the liver, Anemia ORPHA:44890
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... ORPHA:2388
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures ORPHA:93325
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Dehydration OMIM:259900
Renal Hypoplasia
Dehydration ORPHA:93101
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Hypernatremia, Polyhydramnios ORPHA:223
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia, Pancreatic cysts OMIM:193300
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Oligohydramnios, Dehydration, Cardiomegaly ORPHA:96191
Alternating Hemiplegia Of Childhood
Dehydration ORPHA:2131
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Reduced pancreatic beta cells, Dehydration ORPHA:99885
Proximal Renal Tubular Acidosis
Hypokalemia, Bicarbonaturia, Dehydration ORPHA:47159
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Thymoma, Dehydration ORPHA:652
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Dehydration, Hypochloremia ORPHA:90794
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Anemia OMIM:175050

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 Epb42

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 Epb42.

No publications found that use IMPC mice or data for Epb42.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Epb42tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Epb42tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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