Not currently registered for phenotyping at IMPC

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

Gene Summary

solute carrier family 4 (anion exchanger), member 1
erythrocyte membrane protein band 3,  Empb3,  l11Jus51,  band 3,  Ae1,  CD233

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 Slc4a1 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 predicted to be associated to Slc4a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
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, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia OMIM:243320
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean cor... OMIM:615234
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short stature, Splenomegaly ORPHA:66518
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hyperchloremic metabolic acidosis, Hypokalemia, Nephrocalcinosis, Failure to thrive, Short statur... OMIM:611590
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ia
Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, R... OMIM:224120
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia ORPHA:2802
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Jaundice OMIM:268150
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... ORPHA:288
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Microcytic an... ORPHA:848
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Hereditary Spherocytosis
Hepatomegaly, Growth delay, Anemia, Cholelithiasis, Splenomegaly, Pallor, Extramedullary hematopo... ORPHA:822
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice ORPHA:33574
Majeed Syndrome
Growth delay, Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpus... OMIM:609628
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Azoospermia, Anemia, Hepatosplenomegaly, Dysplastic erythropoesis, Reticuloc... ORPHA:300298
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Anemia, Hyperammonemia, Renal insufficiency, Dehydration ORPHA:28
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Petechiae, Lymphadenopathy, Decreased glomerular filtration rate, T... ORPHA:85450
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Leukopenia, Hypochloremic metabolic alkalosis, Failure to thrive, Chronic kidney di... OMIM:613845
Distal Renal Tubular Acidosis
Hyperchloremic metabolic acidosis, Short stature, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f... ORPHA:93598
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Lcat Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, ... ORPHA:650
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... ORPHA:54057
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Pyoderma gangrenosum, Hepatosplenomegaly, Microcytic anemia, Pancytopenia OMIM:604416
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Anemia ORPHA:655
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia OMIM:312500
Hypophosphatasia, Infantile
Hypercalcemia, Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Anemia, Stillbi... OMIM:241500
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia OMIM:242880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Dehydration, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Hy... ORPHA:79312
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypochromic anemia OMIM:209300
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Microcytic anemia, Lacticaciduria OMIM:618811
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:266900
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:606996
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Congenital Atransferrinemia
Anemia ORPHA:1195
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Anisocytosis, Poikilocytosis, Abnormal erythrocyte mor... ORPHA:98870
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Splenom... OMIM:618892
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... OMIM:300367
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Hepatomegaly, Petechiae, Lymphadenopathy, Anemia, Splen... ORPHA:824
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Microcytic anemia, Cholelithiasis, Erythema ORPHA:79278
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Abnormal renal ph... OMIM:274150
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Hypercalcemia, Calcinosis, Hepatomegaly, Aminoaciduria, Failure to thrive, Ane... OMIM:239200
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Infantile Liver Failure Syndrome 1
Macrocytic anemia, Anemia OMIM:615438
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic acidemia, Leukopenia, Methylmalonic aci... OMIM:251000
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Dehydration, Anemia, Pancreatitis, Hyperammonemia, T... ORPHA:27
Propionic Acidemia
Hepatomegaly, Neutropenia, Short stature, Failure to thrive, Anemia, Pancreatitis, Hyperglycinemi... OMIM:606054
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypospadias, Hypochromic microcytic anemia, Growth delay, Small for gestational age, Failure to t... OMIM:619147
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia OMIM:250940
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Ane... OMIM:251110
Galactosemia I
Hepatomegaly, Hypergalactosemia, Aminoaciduria, Hyperchloremic metabolic acidosis, Increased leve... OMIM:230400
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia OMIM:236270
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Hepatic steatosis, Microcytic anemia, H... OMIM:618805
Reticular Dysgenesis
Leukopenia, Dehydration, Failure to thrive, Weight loss, Decreased circulating antibody level, An... ORPHA:33355
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, Ane... OMIM:251100
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Metabolic acidosis, Anemia, Increased serum lactate, Failure to thrive OMIM:610090
Drug-Induced Lupus Erythematosus
Pericardial effusion, Petechiae, Elevated circulating creatine kinase concentration, Hematuria, A... ORPHA:231111
3-Methylglutaconic Aciduria, Type V
Hypospadias, Microvesicular hepatic steatosis, Intrauterine growth retardation, 3-Methylglutaric ... OMIM:610198
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Anuria, Elevated circulating c... OMIM:235400
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Weight loss, Anemi... ORPHA:100024
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Increased total bilirubin, Hyperuricemia, Cholelithiasis, Reticul... OMIM:232800
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
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Decreased hemoglobin concentration, Hyperbilirubinemia, Reticulocytosis, Hemolytic... ORPHA:713
Nephronophthisis 1
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production OMIM:105600
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Growth delay,... OMIM:616084
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... OMIM:612926
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Neutropenia, Elevated circulating creatine kinase concentration, Increased serum la... OMIM:251900
Thrombocythemia 3
Thrombocytosis OMIM:614521
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Focal segmental glomerulosclerosis, Short stature, Nephrocalcinosis, Proxi... OMIM:308990
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Glutaric aciduria, Anemia, Hyperammonemia, Increased level of hippuric acid in urin... OMIM:246450
Protoporphyria, Erythropoietic, X-Linked
Iron deficiency anemia OMIM:300752
Dermatitis Herpetiformis
Microcytic anemia, Erythema, Skin vesicle ORPHA:1656
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Neutropenia, Ketoacidosis, Ascites, Dehydration, Iron deficiency anem... ORPHA:1667
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Petechiae, Decreased glomerular filtration rate, Pulmonary edema, C... ORPHA:340
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Hypokalemia, Nephrocalcinosis, Failure to thrive, Metabolic acidosis, Hypercalciuri... OMIM:602722
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Hypercalcemia, Infantile, 2
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... OMIM:616963
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:602522
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia OMIM:245900
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Microcytic anemia, Short stature OMIM:619013
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia ORPHA:2575
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hyperlipidemia, Short stature, Hep... OMIM:232220
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, Short stature, Failure to thrive, Microcytic anemia, HbH hemoglobin ORPHA:98791
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia ORPHA:56425
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:608898
Wilson Disease
Hemolytic anemia, Hyperphosphaturia, High nonceruloplasmin-bound serum copper, Renal tubular dysf... OMIM:277900
Blue Rubber Bleb Nevus
Microcytic anemia ORPHA:1059
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Abnormal heart morphology, Atrioventricular b... OMIM:614954
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Short stature, Decreased glomerular filtration rate, Nephrolithias... OMIM:601198
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hematuria, Edema, Microcytic anemia, Hydrops fetalis ORPHA:90308
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Orotic Aciduria
Hypochromia, Oroticaciduria, Impaired T cell function, Failure to thrive, Hematuria, Orotic acid ... OMIM:258900
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
8P11.2 Deletion Syndrome
Hypoplasia of penis, Short stature, Growth delay, Splenomegaly, Spherocytosis, Hemolytic anemia ORPHA:251066
Majeed Syndrome
Leukocytosis, Cachexia, Hepatomegaly, Hypochromic microcytic anemia, Failure to thrive, Congenita... ORPHA:77297
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Lactic acidosis, Anemia, Increased serum lactate, Thrombocytopenia, Aminoaciduria OMIM:614946
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia OMIM:257790
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... OMIM:143880
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... OMIM:613090
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Hypochromic microcytic anemia, Sideroblastic anemia OMIM:301310
Pearson Syndrome
Neutropenia, Lacticaciduria, Elevated lactate:pyruvate ratio, Hypophosphatemia, Splenomegaly, Pos... ORPHA:699
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Nephronophthisis 4
Renal tubular atrophy, Growth delay, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:606966
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Cutis laxa OMIM:612379
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly, Ketoacidosis, Edema, Weight loss, Increased serum lac... ORPHA:134
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Dent Disease 2
Short stature, Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tub... OMIM:300555
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Pancreatic Colipase Deficiency
Megaloblastic anemia ORPHA:309108
Amme Complex
Elliptocytosis OMIM:300194
Diamond-Blackfan Anemia 10
Macrocytic anemia, Anemia, Reticulocytopenia OMIM:613309
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Isovaleric Acidemia
Ketoacidosis, Leukopenia, Bone marrow hypocellularity, Hyperglycinuria, Metabolic acidosis, Pancy... OMIM:243500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia OMIM:614294
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Hypop... ORPHA:398063
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Short stature, Episodic hemolytic anemia, Increased blood u... ORPHA:251004
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
Mitochondrial Dna Depletion Syndrome 19
Hypospadias, Microcytic anemia, Increased serum lactate OMIM:618972
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Short stature, Medullary nephrocalcinosis, Re... OMIM:611555
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Granulocytopenia OMIM:606164
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Hyperchloremic metabolic acidosis, Decreased gl... ORPHA:91500
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Nephronophthisis 11
Renal tubular atrophy, Growth delay, Hepatic fibrosis, Nephronophthisis, Renal corticomedullary c... OMIM:613550
Blue Diaper Syndrome
Hypercalcemia, Nephrocalcinosis, Metabolic acidosis, Hyperphosphatemia, Increased body weight, Bl... ORPHA:94086
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lipid accumulation in hepatocytes, Edema,... ORPHA:20
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute... ORPHA:86839
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Intrauterine growth retardation, Hypochromic microcytic anemia,... ORPHA:66634
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Myoglobinuria, Hyponatremia, Hypernatremia, Elevated ... ORPHA:94093
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Short stature, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Micr... OMIM:257200
Autoimmune Hemolytic Anemia
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Dry skin, Thr... ORPHA:508542
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Microvesicular hepatic steatosis, Portal fibrosis, Hypokalemia, H... OMIM:619377
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Beta-Thalassemia Major
Hepatomegaly, Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellula... ORPHA:231214
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia OMIM:618116
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Ketoacidosis, Methylmalonic aciduria, Failure to t... ORPHA:289504
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia OMIM:249270
Rhabdoid Tumor
Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Weight loss, Anemia, Neoplasm of the... ORPHA:69077
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Schistocytosis, Micr... ORPHA:90038
Coach Syndrome 3
Renal tubular atrophy, Renal interstitial inflammation, Portal fibrosis, Renal interstitial fibro... OMIM:619113
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... ORPHA:2260
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Fanconi-Bickel Syndrome
Hyperphosphaturia, Hepatomegaly, Generalized aminoaciduria, Growth delay, Hepatocellular carcinom... ORPHA:2088
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Thrombocytopenia, Anemia ORPHA:673
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Growth delay, Persiste... ORPHA:231226
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Failure to thrive, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infection... OMIM:618495
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Renal tubular acidosis, Anemia, Hyperammonemia OMIM:616457
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Short stature, Nephrocalcinosis, Small for gestational age, Failure to... OMIM:260400
Fanconi Anemia, Complementation Group C
Neutropenia, Anemic pallor, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Glutathione Synthetase Deficiency
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia, Chronic metabolic... OMIM:266130
Glycogen Storage Disease Xii
Normocytic anemia, Short stature, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyt... OMIM:611881
Microcytic anemia ORPHA:926
Granulomatous Slack Skin
Hypercalcemia, Cutis laxa, Nephrocalcinosis, Erythema, Abnormality of the lymph nodes, Acute kidn... ORPHA:33111
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia OMIM:618165
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Aut... ORPHA:1959
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Hepatomegaly, Erythroid hyperplasia, Elevated hepa... ORPHA:231222
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Prolonged QT interval, Abnormal heart morpholo... ORPHA:398124
Oculoskeletodental Syndrome
Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Hepatomegaly, Short stature, Small for gest... OMIM:618440
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Right ventricu... OMIM:208085
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
3-Methylglutaconic Aciduria Type 4
Failure to thrive, 3-Methylglutaconic aciduria, Lactic acidosis, Thrombocytopenia ORPHA:67048
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... ORPHA:49041
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Small for gestational age, Edema, Reversible ... ORPHA:90051
Thrombocythemia 2
Thrombocytosis OMIM:601977
Transaldolase Deficiency
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circul... ORPHA:79096
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy,... OMIM:242530
Porphyria, Acute Hepatic
Failure to thrive, Hemolytic anemia OMIM:612740
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Syncope, Abnormal le... ORPHA:2041
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration, Ketoacidosis, Methylmalonic aciduria OMIM:614265
Paroxysmal Nocturnal Hemoglobinuria
Unconjugated hyperbilirubinemia, Pancytopenia, Chronic kidney disease, Hemosiderinuria, Hemolytic... ORPHA:447
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... OMIM:618278
3-Methylglutaconic Aciduria Type 7
Neutropenia, Growth delay, Nephrocalcinosis, Renal cyst, Increased serum lactate, Bone marrow hyp... ORPHA:445038
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Short stature, Severe postnatal growth retardation, Hepatitis, Ane... ORPHA:440713
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Ventricular escape rhythm, Reduced ejection fraction... ORPHA:1344
Fanconi Renotubular Syndrome 2
Generalized aminoaciduria, Short stature, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hyp... OMIM:613388
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Fumarase Deficiency
Polycythemia, Failure to thrive, Lactic acidosis, Hyperbilirubinemia, Cholestasis, Metabolic acid... OMIM:606812
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Severe postnatal growth retardation, Short stature, Micropenis, Oligohydramnios, Microcytic anemi... ORPHA:293967
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Increased serum lactate, Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Hypercalcemia, Intrauterine growth retardation, Micropenis, Postnatal growth retarda... OMIM:614732
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Short stature, Increased hepatic glycogen content, Tubulointerstitial fibrosis, N... ORPHA:79259
Sengers Syndrome
Exercise-induced lactic acidemia, Growth delay, Thrombocytopenia, Increased serum lactate, 3-Meth... OMIM:212350
Pearson Marrow-Pancreas Syndrome
Renal Fanconi syndrome, Refractory sideroblastic anemia, Small for gestational age, Failure to th... OMIM:557000
Hyperlysinemia, Type I
Anemia OMIM:238700
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Right ventricu... OMIM:613404
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Bone-marrow foam cells, Hepatosplenomegaly, Hypersplenism, Rena... ORPHA:275761
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Acanthocytosis, Hypocholesterolemia, Elevated circulating creatine kinase concentr... ORPHA:96180
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Primary Fanconi Renotubular Syndrome
Hyperchloremic metabolic acidosis, Hypophosphatemia, Proximal renal tubular acidosis, Hyperuricos... ORPHA:3337
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Levotransposition of the great arteries, Anomalous pulmonary ve... ORPHA:860
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Palpitations, Tachycardia, Large for gestatio... ORPHA:276556
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Hypomagnesemia 3, Renal
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... OMIM:248250
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Pancytopenia, Increased m... ORPHA:2169
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Microcytic anemia ORPHA:324737
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Dent Disease 1
Hyperphosphaturia, Aminoaciduria, Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophos... OMIM:300009
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Spontaneous hemolytic crises, Jaundice ORPHA:168577
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Cystathioninuria, Methylmalonic aciduria, Cy... OMIM:277400
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Anemia, Purpura, Asplenia ORPHA:3204
Gaisböck Syndrome
Hyperproteinemia, Cholecystitis, Nephrocalcinosis, Obesity, Increased red blood cell count, Incre... ORPHA:90041
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Autosomal Dominant Hypophosphatemic Rickets
Hyperphosphaturia, Growth delay, Iron deficiency anemia, Hypophosphatemia, Hypocalcemia ORPHA:89937
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Mcleod Syndrome
Acanthocytosis, Abnormal erythrocyte morphology, Hepatosplenomegaly OMIM:300842
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hyperlipidemia, Short stature, Hepatocellular c... OMIM:232200
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Methylmalonic acidur... ORPHA:79282
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria OMIM:239199
Wolfram Syndrome 1
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia OMIM:222300
Diamond-Blackfan Anemia 11
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Ne... ORPHA:730
Bartter Syndrome, Type 1, Antenatal
Short stature, Hyperprostaglandinuria, Renal potassium wasting, Renal salt wasting, Increased cir... OMIM:601678
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Short stature, Renal dysplasia, Nephronophthisis, Renal cyst, Sta... OMIM:266920
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Atrial fibrillation, Mitral regurgitation, Ventricular arrhythmia, ... ORPHA:217607
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
H Syndrome
Short stature, Lymphadenopathy, Delayed puberty, Micropenis, Hepatosplenomegaly, Microcytic anemi... ORPHA:168569
Tyrosinemia, Type I
Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Ascites, Nephrocalcinosis, Failur... OMIM:276700
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Cardiomegaly OMIM:227150
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Intrauterine growth retardation, Lacticaciduria, ... OMIM:619003
Transient Neonatal Diabetes Mellitus
Intrauterine growth retardation, Small for gestational age, Abnormality of the urinary system, Di... ORPHA:99886
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short stature, Nephrocalcinosis, Renal dysplasia, Anemia, Polyhydramnios, Hypercalciuria, Ellipto... OMIM:300990
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal tubular dysfunction, Growth delay, Abnormal abdomen morphology, Failure to thrive, Hypophos... OMIM:241530
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal p... OMIM:300554
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Oliguria, Lymphocytosis, Acute monocytic l... ORPHA:514
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Palpitations, Tachycardia, Large for gestatio... ORPHA:276575
Colchicine Poisoning
Leukocytosis, Hyponatremia, Hypokalemia, Dehydration, Hypophosphatemia, Abnormality of acid-base ... ORPHA:31824
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen, Elevated ur... ORPHA:230
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue hi... ORPHA:158029
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Hepatomegaly, Failure to th... OMIM:220110
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hydronephrosis, Leukopenia, Short stature, Elevated circulating creatine kinase con... ORPHA:2785
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Pseudohypoparathyroidism, Type Ib
Obesity, Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia OMIM:603233
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Growth delay, Short stature, Hypophosphatemia, Nephrolithiasis, Increased circ... ORPHA:157215
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Tufted Angioma
Thrombocytopenia, Anemia, Purpura, Petechiae ORPHA:1063
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Ascites, Hepatocellular carcinoma, Petechiae, Nodular regenerative hype... OMIM:619463
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Syncope, Palpitations, Tachycardia, Large for gestatio... ORPHA:276580
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria, Elevated circulating creatine kinase concentration, Increased serum lactate, Sider... OMIM:255125
Oculocerebrorenal Syndrome Of Lowe
Short stature, Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hypercalciu... ORPHA:534
Leukocytosis, Hyponatremia, Failure to thrive in infancy, Splenic abscess, Microangiopathic hemol... ORPHA:810
Coenzyme Q10 Deficiency, Primary, 1
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Ane... OMIM:607426
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Intrauterine growth retardation, Failure to thrive, Elevated circulating a... ORPHA:26792
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Hemolytic anemia OMIM:600461
Progeria-Short Stature-Pigmented Nevi Syndrome
Hypospadias, Short stature, Small for gestational age, Neoplasm of the pancreas, Hepatic steatosi... ORPHA:2959
Genetic Recurrent Myoglobinuria