Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2
Synonyms:
microcytic anemia, viable anaemia,  DMT1,  Nramp2,  DCT1,  van

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Slc11a2 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 Slc11a2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100

The table below shows human diseases predicted to be associated to Slc11a2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Growth delay, Anisocyto... OMIM:615631
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... OMIM:615517
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia OMIM:206200
Anemia, Sideroblastic, 1
Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,... OMIM:300751
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased mean corpuscular volume, Poikilocytosis, Short stature, Anisocytosis, Pallor, A... ORPHA:98870
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Skin ulcer, Thrombocytopen... ORPHA:848
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Acute Myelomonocytic Leukemia
Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Growth delay, Splenomegaly, Decreased ... OMIM:615234
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... OMIM:224120
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... ORPHA:3203
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
X-Linked Sideroblastic Anemia
Pallor, Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Anemia, Hypochromic Microcytic, With Iron Overload 1
Elevated hepatic iron concentration, Increased circulating iron concentration OMIM:206100
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Acanthocytosis, Congenital thrombocyt... OMIM:300367
Majeed Syndrome
Delayed puberty, Anemia of inadequate production, Growth delay, Hepatosplenomegaly, Decreased mea... OMIM:609628
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia OMIM:243320
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Reduced haptoglobin level, Hepatomegaly, Hyperbilirubinemia, Anemia o... OMIM:613673
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... OMIM:300835
Gracile Syndrome
Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In... ORPHA:53693
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Rh-Null, Amorph Type
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis OMIM:617970
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Increased circulating iron concentration, ... OMIM:613313
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Protoporphyria, Erythropoietic, 2
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia OMIM:618015
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly OMIM:618852
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pyoderma gangrenosum OMIM:604416
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Jaundice, Skin ulcer, ... ORPHA:231226
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... OMIM:616689
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Pallor OMIM:611804
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Hemochromatosis, Type 3
Cirrhosis, Purpura, Anemia, Impotence, Increased circulating iron concentration, Lymphopenia, Ele... OMIM:604250
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Neutropenia OMIM:612563
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... OMIM:301083
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reduced haptoglobin level, Reduced red cell pyruvate kinase level, Jaun... OMIM:266200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular v... OMIM:611590
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, J... ORPHA:231214
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Erythema ORPHA:79278
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Spherocytosis, Type 5
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... OMIM:612690
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia OMIM:612527
Atransferrinemia
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, Growth delay, Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Eryth... OMIM:600462
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... OMIM:261000
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,... OMIM:301310
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Rh Deficiency Syndrome
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... ORPHA:71275
Primary Myelofibrosis
Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Leukocytosis, Poikilocyto... ORPHA:824
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... ORPHA:846
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia OMIM:612631
Elliptocytosis 3
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume OMIM:617948
Beta-Thalassemia Intermedia
Cirrhosis, Abnormality of iron homeostasis, Jaundice, Hepatomegaly, Cholelithiasis, Skin ulcer, A... ORPHA:231222
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin... OMIM:618892
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Azoospermia, Decreased transferrin saturation, Reticulocytopenia, El... ORPHA:300298
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Jaundice, Increased serum bile acid concentration, Iron de... OMIM:616278
Hereditary Elliptocytosis
Postnatal growth retardation, Skin ulcer, Reticulocytosis, Poikilocytosis, Elliptocytosis, Spleno... ORPHA:288
Spherocytosis, Type 2
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin con... ORPHA:54028
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Hb Bart'S Hydrops Fetalis
Pallor, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Failure to thrive, Splenomeg... ORPHA:77297
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E... OMIM:601775
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Combined Oxidative Phosphorylation Deficiency 53
Failure to thrive, Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive p... OMIM:619423
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Dermatitis Herpetiformis
Skin vesicle, Microcytic anemia, Erythema ORPHA:1656
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Anemia, Increased serum pyruvate, Hyperalaninemia, Failure to thri... OMIM:619147
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Megaloblastic anemia, Thrombocytopenia, Pallor ORPHA:49827
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Reticular Dysgenesis
Skin ulcer, Anemia, Decreased circulating antibody level, Failure to thrive, Leukopenia, Weight l... ORPHA:33355
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Elliptocytosis 2
Elliptocytosis, Hemolytic anemia, Reticulocytosis OMIM:130600
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Short stature, Leukopenia OMIM:612528
Nephronophthisis
Anemia ORPHA:655
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia, Cholelithiasis OMIM:300752
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Impotence, Elevated transferrin saturation, Increased circulatin... OMIM:606069
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:601859
Rajab Interstitial Lung Disease With Brain Calcifications 2
Short stature, Hepatosplenomegaly, Microcytic anemia OMIM:619013
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Pallor OMIM:613561
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, HbH hemoglobin, Microcytic anemia ORPHA:98791
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Anemia, Severe short stature OMIM:618728
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia OMIM:618805
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Acanthocytosis OMIM:607236
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Heinz bodies OMIM:614164
Congenital Atransferrinemia
Anemia ORPHA:1195
Congenital Disorder Of Glycosylation, Type Iq
Cutis laxa, Dry skin, Microcytic anemia OMIM:612379
Aceruloplasminemia
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Decreased circulatin... ORPHA:48818
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils, Short stature ORPHA:2760
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Phosphoglycerate Dehydrogenase Deficiency
Growth delay, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Acatalasemia
Microcytic anemia ORPHA:926
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Failure to thrive, Anisocytosis, Hepatomegaly OMIM:604273
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Refractory Celiac Disease
Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr... ORPHA:398063
Tempi Syndrome
Facial erythema, Increased circulating IgG level, Ascites, Polycythemia, Increased hematocrit ORPHA:284227
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Ichthyosis, Congenital, Autosomal Recessive 5
White scaling skin, Acanthocytosis OMIM:604777
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Increased c... OMIM:619632
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pallor OMIM:613839
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia OMIM:245900
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Normochromic microcytic anemia, Postnatal growth retardation OMIM:610198
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:3240
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:603909
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti... OMIM:232800
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hype... OMIM:259720
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Hepatosplenomegaly, Microcytic anemia OMIM:619750
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Evans Syndrome
Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pal... ORPHA:1959
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Hypermanganesemia With Dystonia 1
Cirrhosis, Increased total iron binding capacity, Hepatomegaly, Unconjugated hyperbilirubinemia, ... OMIM:613280
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Increased circulating iron concentration, Sple... OMIM:602390
Ziegler-Huang Syndrome
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Intrauterine growth retardation, Ne... OMIM:620501
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc... OMIM:618278
Barth Syndrome
Hypochromic microcytic anemia, Failure to thrive, Elevated monolysocardiolipin/cardiolipin ratio,... OMIM:302060
Abcd Syndrome
Large for gestational age, Polycythemia, Neonatal death OMIM:600501
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Bone-marrow foam cells, Short stature, Splenomegaly, Microcytic anemia OMIM:257200
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hypochromic microcytic anemia, Anemia, Cholestasis, Portal hypertensio... ORPHA:440713
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, T... OMIM:615285
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Petechiae, Thrombocytopenia, Macrothrombocytopenia OMIM:187800
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi... OMIM:618963
Cold Agglutinin Disease
Pallor, Splenomegaly, Hemolytic anemia ORPHA:56425
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Ecchymosis, Stomatocyt... OMIM:153670
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Skin ulcer, Increased circulating IgE level, Megaloblastic an... OMIM:620603
Srd5A3-Cdg
Microcytic anemia ORPHA:324737
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia ORPHA:295
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight l... ORPHA:514
Von Willebrand Disease
Petechiae, Thrombocytopenia, Microcytic anemia ORPHA:903
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia OMIM:246400
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Elevated circulating glutaric a... ORPHA:66634
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Purpura, Anemia, Asplenia ORPHA:3204
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microa... OMIM:235400
Bone Marrow Failure Syndrome 4
Anemia, Rhizomelia, Dry skin, Short stature, Thrombocytopenia, Leukopenia OMIM:618116
Isolated Agammaglobulinemia
Skin ulcer, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lym... ORPHA:229717
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
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
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Aceruloplasminemia
Aceruloplasminemia, Increased circulating ferritin concentration, Anemia, Decreased circulating i... OMIM:604290
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature... OMIM:301110
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly ORPHA:100025
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly OMIM:608898
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Growth delay OMIM:612561
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor, Splenomegaly ORPHA:90037
Copper Deficiency, Familial Benign
Failure to thrive, Anemia, Decreased circulating copper concentration OMIM:121270
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Short stature, Microcytic anemia OMIM:612073
Myelofibrosis
Purpura, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extramedullary hema... OMIM:254450
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Acute Erythroid Leukemia
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Delayed puberty, Moderate intrauterine growth retardation, Severe postnatal growth retardation, S... ORPHA:293967
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Hypoproteinemia, Decre... OMIM:226300
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Pallor ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Hypersegmentation of neutrophil nuclei, Macrocytic anemia OMIM:615578
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Abnormality of iron homeostasis, Erectile dysfunction, Cardiomegaly, Hepatomegaly, Inf... ORPHA:465508
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Impotence, Congeni... ORPHA:79230
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Klippel-Trénaunay Syndrome
Microcytic anemia ORPHA:90308
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt... OMIM:274150
Trichothiodystrophy 6, Nonphotosensitive
Dry skin, Short stature, Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreas... OMIM:616943
Prolidase Deficiency
Hepatomegaly, Anemia, Increased circulating antibody level, Skin ulcer, Petechiae, Prolonged neon... OMIM:170100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis OMIM:616457
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Intrauterine g... OMIM:617021
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Infantile Liver Failure Syndrome 1
Anemia, Macrocytic anemia OMIM:615438
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Anemia OMIM:614514
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Ollier Disease
Lymphangioma, Anemia, Skin ulcer ORPHA:296
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
X-Linked Agammaglobulinemia
Skin ulcer, Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system... ORPHA:47
Classic Mycosis Fungoides
Hepatomegaly, Skin ulcer, Lymphadenopathy, Abnormal lymphocyte morphology, Dry skin, Splenomegaly... ORPHA:2584
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Increased circulating antibody level, Lymphadenopathy, Viscer... ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l... OMIM:613101
Livedoid Vasculopathy
Abnormal circulating lipid concentration, Skin ulcer, Anemia, Pancytopenia, Hyperhomocystinemia, ... ORPHA:542643
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... OMIM:603552
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Megaloblastic anemia OMIM:236270
Anemia, Congenital Dyserythropoietic, Type Iiia
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia OMIM:105600
Imerslund-Grasbeck Syndrome 2
Growth delay, Megaloblastic anemia, Anemia OMIM:618882
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Somatostatinoma
Intrahepatic cholestasis, Neoplasm of the pancreas, Hypochromic microcytic anemia, Gallbladder dy... ORPHA:97283
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Failure to thrive, Exocrine pancreatic i... OMIM:612714
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia ORPHA:27
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellula... OMIM:235200
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia OMIM:616435
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Nephronophthisis 9
Postnatal growth retardation, Anemia OMIM:613824
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Chylomicron Retention Disease
Growth delay, Acanthocytosis ORPHA:71
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Decreased body weight, Iron deficiency anemia OMIM:607906
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Jaundice, Hepatomegaly, Abnormal blood inorganic cation co... ORPHA:309854
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Purpura, Anemia, Petechiae, Abnormal lymphatic vessel morphology, Reticulocyt... ORPHA:2330
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He... OMIM:614470
Combined Oxidative Phosphorylation Deficiency 14
Elevated hepatic iron concentration, Copper accumulation in liver, Increased hepatic glycogen con... OMIM:614946
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Amme Complex
Intrauterine growth retardation, Elliptocytosis OMIM:300194
Sickle Cell Disease
Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Increased red cell sickling tendenc... OMIM:603903
Idiopathic Copper-Associated Cirrhosis
Copper accumulation in liver, Increased circulating copper concentration, Cirrhosis, Hepatic stea... ORPHA:209919
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Decreased body... ORPHA:1667
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Neutropenia OMIM:251900
Birk-Aharoni Syndrome
Macrocytic anemia OMIM:620071
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia ORPHA:2575
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Failure to thrive, Splenomegaly, Hy... OMIM:619046
Monosomy 22
Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus ORPHA:96123
Polycythemia Vera
Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth... ORPHA:729
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Pallor, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Short stature, Growth delay, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:608885
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Growth delay OMIM:619774
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Trichohepatoenteric Syndrome 1
Cirrhosis, Abnormality of iron homeostasis, Jaundice, Abnormality of the pancreas, Hepatomegaly, ... OMIM:222470
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Ecchymosi... ORPHA:88
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Microcytic anemia, Short stature, T lymphocytopenia ORPHA:2959
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Infertility, Failure to thrive, Weight l... OMIM:212750
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Premature skin wrinkling, Poikilocytosis, Growth delay, Intrauterine growth re... OMIM:618947
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hypona... ORPHA:90038
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased circulating ... ORPHA:446
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia, Pyoderma gan... OMIM:616576
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Spontaneous hemolytic crises, Short stature, Hepatosplenomegaly, St... ORPHA:168577
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Methylcobalamin Deficiency Type Cble
Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,... ORPHA:2169
Wiskott-Aldrich Syndrome
Acute leukemia, Purpura, Skin ulcer, Anemia, Petechiae, Abnormal eosinophil morphology, Hypoplasi... ORPHA:906
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... OMIM:275350
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosis ORPHA:96180
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Syndromic Diarrhea
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Panhypogammaglobulinemia, Hypoplasia of... ORPHA:84064
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hepatomegaly, Hypocalcemia, Leukocytosis, Failure to thrive, Hypophosphate... ORPHA:289157
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Diamond-Blackfan Anemia 11
Short stature, Anemia of inadequate production, Neutropenia OMIM:614900
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Eosinophilia, Failure to thrive, Neutrophil... OMIM:226990
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Reticulocytosis, P... ORPHA:79277
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia, Severe short stature OMIM:615789
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Leukocyte Adhesion Deficiency Type Ii
Anemia, Leukocytosis, Short stature, Neutrophilia, Intrauterine growth retardation, Skin vesicle,... ORPHA:99843
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8... OMIM:150550
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Increased circulating IgE level,... OMIM:618213
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Acquired Von Willebrand Syndrome
Normocytic anemia, Menorrhagia, Metrorrhagia, Refractory anemia, Hypochromic anemia ORPHA:99147
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Mcleod Syndrome
Acanthocytosis, Splenomegaly OMIM:300842
Peripheral Cone Dystrophy
Pallor OMIM:609021
Orthostatic Hypotension 2
Anemia OMIM:618182
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, Abnormally low T... OMIM:608203
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Short stature, Granulocytopenia, Macrocytic anemia OMIM:606164
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Immunodeficiency 47
Cholestasis, Cutis laxa, Prolonged neonatal jaundice, Leukopenia, Splenomegaly, Decreased circula... OMIM:300972
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor ORPHA:2786
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Hepatomegaly, Hypotriglyceridemia, Hy... ORPHA:14
Pearson Syndrome
Hepatomegaly, Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Hyperalaninemia, Reticulocytosis, ... ORPHA:699
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perioral erythema, Dry skin, Impaired T cell function, Perianal erythema, Failure t... OMIM:201100
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
H Syndrome
Delayed puberty, Short stature, Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat... ORPHA:447
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Impaired platelet aggregat... OMIM:618372
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Necrobiosis Lipoidica
Skin ulcer, Erythema, Abnormality of neutrophil physiology ORPHA:542592
Fumarase Deficiency
Intrahepatic cholestasis, Hyperbilirubinemia, Ascites, Failure to thrive, Polycythemia, Pallor OMIM:606812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly OMIM:620367
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Anemia, Splenomegaly OMIM:620296
Wolfram Syndrome 1
Growth delay, Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia OMIM:222300
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Anemia, Erythema, Elevated circulating C-reactive protein concentration OMIM:608068
8P11.2 Deletion Syndrome
Spherocytosis, Short stature, Growth delay, Splenomegaly, Hemolytic anemia ORPHA:251066
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Leukemia... OMIM:600901
Takayasu Arteritis
Skin ulcer, Anemia, Weight loss ORPHA:3287
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor... ORPHA:79096
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T... OMIM:557000
Chilblain Lupus
Skin ulcer, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... OMIM:613011
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Fail... OMIM:618495
Oslam Syndrome
Anemia OMIM:165660
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Dry skin, Short stature, Growth delay, ... OMIM:613990
Lesch-Nyhan Syndrome
Anemia ORPHA:510
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Hemophagocytosis, Weight loss ORPHA:86884
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hepatosplenomegaly... OMIM:612840
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Growth delay, Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldol... OMIM:611881
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Intrauterine growth retardati... OMIM:612562
Blue Rubber Bleb Nevus
Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia OMIM:112200
Diamond-Blackfan Anemia 10
Anemia, Macrocytic anemia, Reticulocytopenia, Short stature, Growth delay, Steroid-responsive anemia OMIM:613309
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia OMIM:611174
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Leukemia... OMIM:227650
Free Sialic Acid Storage Disease
Hepatomegaly, Skin ulcer, Ascites, Splenomegaly, Failure to thrive in infancy ORPHA:834
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Short stature, Megaloblastic anemia, Growth delay, Neutropenia OMIM:250940
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Anemia, Decreased circulating carnitine concentration, Decreased body weight, Failure to thrive, ... ORPHA:89842
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Increased circulating IgE level, Skin ulcer, T lymphocytopenia ORPHA:217390
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Intrauterine growth retardation ORPHA:46059
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Sepsis In Premature Infants
Purpura, Anemia, Petechiae, Leukocytosis, Thrombocytopenia, Splenomegaly, Pallor, Neutropenia ORPHA:90051
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis ORPHA:86818
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein concentration, Ly... OMIM:301074
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Intrauterine growth retardation, Thrombocytopenia, Normochromic anemia OMIM:618775
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Anemia OMIM:620366
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Leukopenia, Anemia OMIM:255125
Lead Poisoning
Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Decreased male libid... ORPHA:330015
Diabetes Mellitus, Permanent Neonatal, 1
Intrauterine growth retardation, Elevated hemoglobin A1c OMIM:606176
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Short stature, Thrombocytopenia, Intraute... OMIM:227645
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Fai... ORPHA:905
Wolman Disease
Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Persistence of hemoglobin F OMIM:617101
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt... ORPHA:97214
Waldenström Macroglobulinemia
Normocytic anemia, Purpura, Splenomegaly, Pallor, Abnormality of neutrophils, Leukemia ORPHA:33226
Disabling Pansclerotic Morphea Of Childhood
Skin ulcer, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphopenia OMIM:620443
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c OMIM:616511
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level OMIM:618858
Down Syndrome
Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Obes... ORPHA:870
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Iron deficiency anemia, Asplenia, Chronic hepatitis, Exocrine pancreatic insufficiency... OMIM:269200
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Conjugated hyperbiliru... ORPHA:294
Hydatidiform Mole
Anemia ORPHA:99927
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Increased circulating antibody level, Hypokalemia, Lymphadenopathy, Petec... ORPHA:99826
Kearns-Sayre Syndrome
Short stature, Sideroblastic anemia OMIM:530000
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:610377
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype... OMIM:615387
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Optic Atrophy 1
Pallor OMIM:165500
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy... OMIM:619991
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Impaired lymphocyte transformation with phytohemagglutinin, An... OMIM:250250
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop... OMIM:127550
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Dry skin, Fa... ORPHA:39041
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Hepatomegaly, Iron deficiency anemia, Weight loss ORPHA:100075
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Pallor, Short stature, Neutropenia OMIM:609053
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentra... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Increased circulatin... OMIM:256040
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Von Hippel-Lindau Syndrome
Hepatic hemangioma, Polycythemia, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Foxp1 Syndrome
Failure to thrive, Overweight, Decreased circulating iron concentration ORPHA:391372
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Hepatomegaly, P... OMIM:278000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia OMIM:246450
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Pyoderm... ORPHA:49566
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop... OMIM:603553
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent... OMIM:614602
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Pgm3-Cdg
Skin ulcer, Increased circulating IgG level, Decreased proportion of CD3-positive T cells, Increa... ORPHA:443811
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Splenomegaly... OMIM:615512
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Overweight, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F OMIM:619769
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Premature ovarian insufficiency, Macrocytic anemia, Hyperuricemia, Dry skin, H... ORPHA:199299
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia... OMIM:619463
Lathosterolosis
Anisopoikilocytosis OMIM:607330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated hepatic iron concentration, Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis OMIM:300868
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ... ORPHA:64743
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... OMIM:617388
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Cryoglobulinemic Vasculitis
Purpura, Hepatomegaly, Mediastinal lymphadenopathy, Skin ulcer, Petechiae, Viral hepatitis, Splen... ORPHA:91138
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Neuroblastoma
Anemic pallor, Thrombocytopenia, Anemia ORPHA:635
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer, Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Shwachman-Diamond Syndrome 1