Not currently registered for phenotyping at IMPC

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

Gene Summary

hexokinase 1
Hk1-s,  mHk1-s,  Hk-1

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 Hk1 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 Hk1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Nonsphe... OMIM:235700
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Neuropathy, Hereditary Motor And Sensory, Russe Type
Retinitis Pigmentosa 79
Charcot-Marie-Tooth Disease Type 4G

The table below shows human diseases predicted to be associated to Hk1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... OMIM:613673
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... OMIM:616689
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Decre... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly OMIM:179700
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Beta-Thalassemia Intermedia
Splenomegaly, Hepatosplenomegaly, Pallor, Skin ulcer, Jaundice, Anemia of inadequate production, ... ORPHA:231222
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased urine harderopo... OMIM:618892
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly, Elevated hepatic transaminase, Pallor ORPHA:75563
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Reticulocytosis, Aminoaciduria, Hemolytic anemia, Jaundice ORPHA:33574
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Ascites, Micropenis, Hepatosplenomegaly, Hemolytic anemia OMIM:600461
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:673
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... OMIM:616278
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Isothenuria, Pallor, Hepatosplenomegaly, Reticulocytosis, Decrease... OMIM:611590
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Anemia, ... ORPHA:848
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... OMIM:185000
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Nonsphe... OMIM:235700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:616649
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Spherocytosis, Type 1
Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemi... OMIM:182900
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Stomatocyt... ORPHA:288
Glycogen Storage Disease Vii
Increased total bilirubin, Cholelithiasis, Hyperuricemia, Exercise-induced myoglobinuria, Reticul... OMIM:232800
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Hereditary Spherocytosis
Hepatomegaly, Anemia, Hyperbilirubinemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary he... ORPHA:822
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Spon... ORPHA:71275
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Porphyria, Acute Hepatic
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:612740
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... OMIM:109270
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pa... OMIM:616959
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
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
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... ORPHA:54057
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Proteinuria, Hypertriglyceridemia, ... OMIM:245900
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Pallor ORPHA:56425
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Porphyria Cutanea Tarda
Increased serum iron, Elevated hepatic iron concentration, Portal inflammation, Chronic hepatitis... ORPHA:101330
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Increased level of L-pyroglutamic acid in urine OMIM:266130
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Hyperbilirubinemia, Reticulocytosis, Hemolytic... ORPHA:713
Galactosemia I
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Increased... OMIM:230400
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular ... ORPHA:231226
Hemochromatosis, Type 2B
Increased serum iron, Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Anemia, Elevated tran... OMIM:613313
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Co... OMIM:614034
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Autoimmune Hemolytic Anemia
Hemolytic anemia, Splenomegaly, Abnormal urinary color, Pallor, Abnormal leukocyte morphology ORPHA:98375
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia OMIM:611283
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Increased c... OMIM:600462
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin, Splenomegaly, Abnormal urinary color, Pallor, Autoimmune hemolytic anemia ORPHA:90037
Protoporphyria, Erythropoietic, 1
Erythema, Cholelithiasis, Hypertriglyceridemia, Hepatic failure, Hemolytic anemia OMIM:177000
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Hyperbilirubinemia, Nodular regenerative h... ORPHA:64743
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Lymphaden... ORPHA:824
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... ORPHA:108
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Anemia, Trimethylaminuria, Neutropenia, Splenomegaly OMIM:602079
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnor... ORPHA:86839
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas ORPHA:1195
Hemolytic Anemia, Congenital, X-Linked
Dark urine, Hemolytic anemia, Jaundice OMIM:301015
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... OMIM:618278
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Orotic Aciduria
Hypochromia, Oroticaciduria, Hematuria, Orotic acid crystalluria, Anisocytosis, Poikilocytosis, P... OMIM:258900
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Ecchymosis, Menorrhagia, Increased mean platelet volume, Petechiae, Stomatocytosis, Splenomegaly,... OMIM:153670
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Jaundice OMIM:268150
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Amenorrhea, Hypogonadotropic hypogonadism, Anemia, Elevated tr... OMIM:604250
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency, Hy... ORPHA:100025
Renal insufficiency, Anemia ORPHA:655
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... OMIM:235400
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Abnormal renal ph... OMIM:274150
Hypermanganesemia With Dystonia 1
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Cirrhosis, Decrea... OMIM:613280
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Abse... OMIM:259720
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... OMIM:102730
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Lcat Deficiency
Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki... ORPHA:650
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Increased total bilirubin, Abnormal urinary color, Autoimmune hemolytic anemia ORPHA:90036
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Beta-Thalassemia Major
Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia... ORPHA:231214
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... OMIM:612926
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Incr... OMIM:603903
Glycogen Storage Disease Due To Aldolase A Deficiency
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hemoly... ORPHA:57
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Transaldolase Deficiency
Abnormal circulating glutamine concentration, Anemia, Cirrhosis, Hepatosplenomegaly, Increased se... ORPHA:101028
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Macrothrombocytopenia, Anemia OMIM:616176
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia, Hemolytic anemia OMIM:152700
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Glutaric aciduria, Anemia, Hyperuricemia, Hyperammonemia, Increased level of hippur... OMIM:246450
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly,... ORPHA:398124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Jau... ORPHA:247598
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Purpura, Asplenia ORPHA:3204
Rosaï-Dorfman Disease
Lymphadenopathy, Erythema, Anemia ORPHA:158014
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Hematuria, Anemia, Incre... ORPHA:91547
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperlipidemia, Anemia, Stage 5 chronic kidney disease, Hypoa... OMIM:603278
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Abnormal circulating histidine concentration, Abnormal concentratio... ORPHA:51208
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... ORPHA:1959
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:615399
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Elevated transferrin saturation, Cirrhosis, Increased circulating ferritin ... OMIM:606069
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphaden... OMIM:603553
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Co... OMIM:269920
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria OMIM:612300
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Hyperlysinemia, Type I
Hyperlysinemia, Anemia OMIM:238700
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Chronic kidney disease, Pancytopenia, Hemosiderinuria, Hemolytic... ORPHA:447
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Pa... ORPHA:90033
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Infertility, Degenerative liver disease, Pallor OMIM:268040
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Micr... ORPHA:90038
Abnormality of the liver, Atransferrinemia, Hypochromic anemia OMIM:209300
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia, Cholestasis, Hepatic failure, Aminoaciduria, Pallor OMIM:606812
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Diamond-Blackfan Anemia 7
Horseshoe kidney, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Vesicoureter... OMIM:612562
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... OMIM:618935
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Gracile Syndrome
Renal Fanconi syndrome, Decreased transferrin saturation, Elevated hepatic iron concentration, Ci... ORPHA:53693
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Abnormal lymphatic vessel ... ORPHA:2330
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neutropenia, Ascites, Elevated hepatic transaminase, Iron deficiency ... ORPHA:1667
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hemolyt... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hemolyt... ORPHA:529799
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Diamond-Blackfan Anemia 5
Hypospadias, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Reticulocytopenia OMIM:612528
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Pu... ORPHA:79277
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... OMIM:308230
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Vitamin B12-Responsive Methylmalonic Acidemia
Renal insufficiency, Hepatomegaly, Anemia, Hyperammonemia ORPHA:28
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Acute my... ORPHA:811
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Glomerulonephritis, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, An... OMIM:304790
Plummer-Vinson Syndrome
Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy... ORPHA:54028
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Glutamate Formiminotransferase Deficiency
Aminoaciduria, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chlo... OMIM:229100
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Horseshoe kidney, Elevated red cell adenosine deaminase level, Neutr... ORPHA:124
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria, Anemia, Hyperuricemia ORPHA:510
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Hepa... OMIM:277900
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Hemoglobinuria, Abnormal urinary color, Autoimmune hemolytic an... ORPHA:90035
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Petechiae, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... OMIM:612840
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Ascites, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:2123
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Castleman Disease
Ureteral obstruction, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Hemat... ORPHA:160
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... OMIM:606367
Rotor Syndrome
Bilirubinuria, Porphyrinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Intermittent jau... ORPHA:3111
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Abnormality of the liver, Prolonged... ORPHA:79234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial fibrosis, Anemia, Hyperu... OMIM:613092
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Splenomegaly, Hepatic failure, I... OMIM:235555
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:266900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia OMIM:618116
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Renal insufficiency, Hypercalcemia, Proteinuria, Anemia ORPHA:2668
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis, Pallor ORPHA:99931
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Senior-Boichis Syndrome
Renal hypoplasia, Malformation of the hepatic ductal plate, Hepatic fibrosis, Ascites, Elevated h... ORPHA:84081
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Pyoderma gangrenosum, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevat... OMIM:604416
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hepatomegaly, Hepatic fibrosis, Ascites, Elevated hepatic transaminase, Anem... OMIM:619487
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Hypocholestero... OMIM:607765
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells,... ORPHA:331206
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thrombocytopenia OMIM:617243
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Glomerulonephritis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Cholelithiasis, Eleva... OMIM:300752
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... OMIM:618398
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... ORPHA:54251
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Purpura, Ly... ORPHA:1572
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin c... OMIM:613011
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Reticular Dysgenesis
Leukopenia, Anemia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Skin ulcer ORPHA:33355
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Elevated hepatic transaminase, Thro... ORPHA:858
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hypersplenism, Conjug... ORPHA:480520
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:606996
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Myasthenia Gravis
Hepatitis, Pure red cell aplasia, Glycosuria, Abnormality of the thymus, Hemolytic anemia ORPHA:589
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Th... ORPHA:88
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Elevated circulating aspartate aminotrans... ORPHA:79302
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Splenomegaly, Thrombocytopenia, ... ORPHA:79312
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... ORPHA:251066
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Increased circulating ferritin concentration, Aceruloplasminemia, Anemia, Decreased serum iron OMIM:604290
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia, Abnormal circulating copper concentration OMIM:121270
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, ... ORPHA:168577
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hemobilia, Polycythemia, ... ORPHA:88673
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Biliary tract abnormality, Jaundice OMIM:237500
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Pearson Syndrome
Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Pancytopenia, Bone marrow hypocellul... ORPHA:699
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... OMIM:607115
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia, Jaundice OMIM:237900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly OMIM:118830
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia OMIM:129850
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Reversible renal failure, Splenomegal... ORPHA:90051
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Anemia, Renal cyst, Hyperuricemia, Nephropathy, ... OMIM:617056
Autosomal Erythropoietic Protoporphyria
Erythema, Cholelithiasis, Cirrhosis, Decreased liver function, Microcytic anemia, Abnormal circul... ORPHA:79278
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:619113
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:230900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Hyperammonemia, Throm... ORPHA:289916
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Hepatomegaly, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Splenomegaly, Purpura, Ne... ORPHA:809
Hepatomegaly, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated hepatic transam... ORPHA:14
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Facial erythema ORPHA:284227
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Portal hypertension, Dec... OMIM:278000
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia ORPHA:79402
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Tufted Angioma
Thrombocytopenia, Anemia, Purpura, Petechiae ORPHA:1063
Hemochromatosis, Type 2A
Increased serum iron, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogo... OMIM:602390
Isolated Agammaglobulinemia
Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Anemia, Abnormality of the t... ORPHA:229717
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia, Jaundice OMIM:237450
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia ORPHA:2598
Isolated Polycystic Liver Disease
Hepatomegaly, Increased total bilirubin, Polycystic liver disease, Abnormality of the pancreas, M... ORPHA:2924
Ollier Disease
Lymphangioma, Anemia, Skin ulcer ORPHA:296
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia, Jaundice OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia, Jaundice OMIM:606785
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopen... ORPHA:27
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... ORPHA:251004
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio, Nephritis, Stage 5 chronic kidney disease OMIM:609057
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Methemoglobinemia, Micropenis OMIM:250790
Caroli Disease
Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Increased circulating ferritin concentration, ... OMIM:618886
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Stormorken Syndrome
Asplenia, Elevated circulating creatine kinase concentration, Anemia, Howell-Jolly bodies, Thromb... OMIM:185070
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Hyperalaninemia, Hyperprolinemia, Splenomegaly, Increased serum pyruvate OMIM:619046
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Hyperbilirubinemia, Decreased liver function, Hepatic steatosis, Cholestasis, El... OMIM:614300
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Anemia OMIM:614450
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure ORPHA:75233
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia, Jaundice OMIM:218800
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Renal insufficie... ORPHA:890
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Hyponatremia, Amenorrhea, Normochromic anemia, Decreased female libido, Impotence, Pallor, Decrea... ORPHA:95512
Potocki-Shaffer Syndrome
Micropenis, Anemia ORPHA:52022
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Myeloproliferative disorder, Pallor, Purpura, Splenomegaly OMIM:254450
Anti-Glomerular Basement Membrane Disease
Hematuria, Anemia, Purpura, Proteinuria, Renal insufficiency ORPHA:375
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Neutropenia, Anemic pallor, Leukemia, Ectopic kidney, Anemia, Male infertility,... OMIM:227650
Hellp Syndrome
Hemoglobinuria, Microangiopathic hemolytic anemia, Acute kidney injury, Proteinuria, Elevated hep... ORPHA:244242
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal c... OMIM:607330
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Galactosemia Iii
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Biliary Atresia, Extrahepatic
Hepatomegaly, Unconjugated hyperbilirubinemia, Portal fibrosis, Acholic stools, Atretic gallbladd... OMIM:210500
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Anemia, Increased blood... ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Elevated circulating C-reactive protein concentration, Anemia, Erythema OMIM:608068
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... OMIM:300367
Leukocytosis, Hyponatremia, Splenic abscess, Microangiopathic hemolytic anemia, Peritonitis, Hemo... ORPHA:810
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Ascites, Nephrotic syndrome, Neph... ORPHA:93552
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Anemia, Bone marrow hypocellularity, Myeloid leukemia, Cirrhosis, Pa... OMIM:614742
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Hydatidiform Mole
Spontaneous abortion, Anemia, Menometrorrhagia ORPHA:99927
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Renal insufficiency, Pu... ORPHA:33226
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Increased total bilirubin, Ascites OMIM:174050
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Chronic kidney disease, Anemia, Hyperuricemia, Hypomagnesemia, Proteinu... OMIM:613845
Graft Versus Host Disease
Elevated hepatic transaminase, Lymphadenopathy, Hyperbilirubinemia, Acute hepatitis, Hepatospleno... ORPHA:39812
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Neutropenia, Anemic pallor, Leukemia, Ectopic kidney, Anemia, Reticulocytopenia... OMIM:600901
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Spontaneous abortion, Thromb... ORPHA:464343
Oslam Syndrome
Anemia OMIM:165660
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Nodular regenerative hype... OMIM:619463
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Increased total bilirubin, Cholestasis, Hepatic failure, Elevated hepatic transamin... OMIM:618528
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Omenn Syndrome
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Hypercalcemia, Anemia ORPHA:436
Prolidase Deficiency
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:170100
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Hyponatremia, Amenorrhea, Normochromic anemia, Decreased female libido, Impotence, Pallor, Decrea... ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Ketonuria, Leukopenia, Lipid accumulation in hepatocy... ORPHA:20
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia, Proteinuria OMIM:618882
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Porphyria, Congenital Erythropoietic
Pink urine, Cholelithiasis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:263700
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Abnormal renal physiology, Ane... ORPHA:540
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Increased total bilirubin, Acute hepatiti... ORPHA:2137
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Mcleod Syndrome
Acanthocytosis, Abnormal erythrocyte morphology, Hepatosplenomegaly, Elevated circulating creatin... OMIM:300842
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Hydrou... OMIM:598500
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thro... OMIM:610333
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria,... OMIM:614857
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Erythema, Abnormal lymphocyte morphology, Splenomegaly, Dry skin, ... ORPHA:2584
Non-Functioning Pituitary Adenoma
Irregular menstruation, Abnormality of the menstrual cycle, Hypogonadotropic hypogonadism, Decrea... ORPHA:91349
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Cirrhosis, Hyp... OMIM:605814
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Jaundice ORPHA:290
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Anemia, Decreased liver function, Cholestasis, Hypoalbuminemia, Thrombocyt... OMIM:608104
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia, Urethral stricture OMIM:226670
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue hi... ORPHA:158029
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Anemia, Nephropathy ORPHA:1192
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Anemia, Hyperglycinemi... OMIM:251110
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Hy... OMIM:619573
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Thymic Aplasia
Hypocalcemic tetany, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lym... ORPHA:83471
Gilbert Syndrome
Unconjugated hyperbilirubinemia, Jaundice OMIM:143500
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Pituitary Apoplexy
Hyponatremia, Oligomenorrhea, Normochromic anemia, Impotence, Hypergonadotropic hypogonadism, Pallor ORPHA:95613
Immunodeficiency 23
Neutropenia, Erythema, Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophilia, Hemol... OMIM:615816
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Anemia, Glomerular sclero... OMIM:607426
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Anemia, Hyperbilirubinemia, Absent gallbladder, Micropenis, Hypocalc... ORPHA:163979
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Dermotrichic Syndrome
Aminoaciduria, Anemia ORPHA:99688
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Petechiae, Lymphadenopathy, Decreased glomerular filt... ORPHA:85450
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Sheehan Syndrome
Hyponatremia, Oligomenorrhea, Amenorrhea, Normochromic anemia, Decreased female libido, Dyspareun... ORPHA:91355
X-Linked Agammaglobulinemia
Neutropenia, Abnormality of the lymphatic system, Hepatitis, Anemia, Abnormality of the tonsils, ... ORPHA:47
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Abnormal plat... ORPHA:906
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Neutropenia, Anemic pallor, Leukemia, Ectopic kidney, Anemia, Bone marrow hypoc... OMIM:227645
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ... ORPHA:18
Acute Monoblastic/Monocytic Leukemia