Not currently registered for phenotyping at IMPC

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

Gene Summary

ATPase, H+/K+ exchanging, gastric, alpha polypeptide
H+K+-transporting alpha 1,  H+/K+-ATPase alpha

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 Atp4a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Atp4a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic... OMIM:206200
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anemia, Sideroblastic, 1
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Protoporphyria, Erythropoietic, 2
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia OMIM:618015
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl... OMIM:237800
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Immunodeficiency 69
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, L... OMIM:618963
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase activity OMIM:615909
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Th... OMIM:615285
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
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... ORPHA:86841
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Melena, Increased mean corpuscular volume, Hyperbi... ORPHA:98870
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis OMIM:603529
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... OMIM:604416
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Anemia, Splenomegaly ORPHA:75563
Abnormality of the liver, Hypochromic anemia, Atransferrinemia OMIM:209300
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o... OMIM:613673
Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Vomiting, Prolonged neonatal jau... OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ... OMIM:224120
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Diarrhea, Leukocytosis, Increased circu... OMIM:209950
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Gastric Cancer
Stomach cancer OMIM:613659
Intrinsic Factor Deficiency
Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic... OMIM:261000
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h... OMIM:263300
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis OMIM:230450
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Increased circulating iron concentration, Splenomegaly, Hypogona... OMIM:613313
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia... OMIM:226300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen... OMIM:616278
Asplenia, Isolated Congenital
Howell-Jolly bodies, Thrombocytosis, Asplenia OMIM:271400
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Glutamate-Cysteine Ligase Deficiency
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis ORPHA:33574
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg... OMIM:617780
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia OMIM:185020
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit... ORPHA:398063
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy... OMIM:235700
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Protoporphyria, Erythropoietic, X-Linked
Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia, Cholelithiasis OMIM:300752
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Beta-Thalassemia Intermedia
Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean corpuscular volume, A... ORPHA:231222
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Thrombocythemia 3
Thrombocytosis OMIM:614521
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Abnormality of ... ORPHA:300298
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circulating IgG level, ... OMIM:619281
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Bloody diarrhea, Leukocytosis, Ulc... OMIM:619398
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Rh Deficiency Syndrome
Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy... ORPHA:71275
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Increased T cell count, Abnormal gastric mucos... ORPHA:263665
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Thrombocythemia 2
Thrombocytosis OMIM:601977
Rh-Null, Amorph Type
Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia OMIM:617970
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol... OMIM:616649
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly,... ORPHA:100025
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic dyserythropoietic anemia, Macrocytic anemia OMIM:619789
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem... OMIM:601859
Thrombotic Thrombocytopenic Purpura
Diarrhea, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Microangiopathic hemolyt... ORPHA:54057
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ... OMIM:612840
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol... OMIM:182900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... OMIM:301083
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Hemochromatosis, Type 3
Cirrhosis, Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin sa... OMIM:604250
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Delayed puberty, High palate, Sideroblastic anemia, Hypochromic anemia, Microcytic anemia, Hypopi... OMIM:600462
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal... ORPHA:1876
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Lymphadenopathy, Elevated circulating... OMIM:614034
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Gastrointestinal hemorrhage, Hepat... OMIM:603909
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P... OMIM:185000
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Hemochromatosis, Type 4
Cirrhosis, Hepatomegaly, Anemia, Diabetes mellitus, Elevated transferrin saturation, Increased ci... OMIM:606069
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration
Decreased LDL cholesterol concentration, Acanthocytosis, Dysphagia OMIM:607236
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome... ORPHA:3318
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Conjugated hyperbilirubinemia ORPHA:234
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Plummer-Vinson Syndrome
Hypochromic microcytic anemia, Iron deficiency anemia, Glossitis, Esophageal web, Dysphagia, Decr... ORPHA:54028
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... OMIM:243150
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h... ORPHA:35858
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Abnorma... OMIM:112200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal... ORPHA:288
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia OMIM:300367
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia OMIM:200100
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti... OMIM:601775
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody l... OMIM:613101
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Diarrhea, Bloody diarrhea, Intestinal ... ORPHA:90038
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central ... ORPHA:514
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Hypoa... OMIM:617021
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Glycogen Storage Disease Vii
Jaundice, Cholelithiasis, Hyperuricemia, Elevated circulating creatine kinase concentration, Reti... OMIM:232800
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma, Reduced circulating alpha-1-antitrypsin concentration, S... OMIM:613490
Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased circulating i... OMIM:604290
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Elliptocytosis 2
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:130600
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis ORPHA:713
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Majeed Syndrome
Delayed puberty, Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:609628
Celiac Disease, Susceptibility To, 1
Delayed puberty, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Recurrent aphthous stoma... OMIM:212750
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Thrombocytosis, Anoperineal fistula, Lymphocytosis, Chr... OMIM:301074
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatomegaly, Diarrhea, Microvesicular hepatic steatosis, Leukocytosis,... OMIM:618278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Hepatomegaly OMIM:604273
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Iron deficiency anemia, Gastroesophageal reflux, Diarrhea, High palate, Hypothyroidism OMIM:607906
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Blue Rubber Bleb Nevus
Gastrointestinal infarctions, Volvulus, Microcytic anemia, Intestinal bleeding ORPHA:1059
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari... ORPHA:64743
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Steatorrhea, Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insuffi... OMIM:612714
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Impaired p... OMIM:618372
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog... OMIM:619079
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia OMIM:245900
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Acanthocytosis, Vomiting, Fat malabsorption, Hypocholesterolemia, Hepatic ... ORPHA:71
Anemia, Splenomegaly, Neutropenia OMIM:602079
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Glutathione Peroxidase Deficiency
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies OMIM:614164
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia OMIM:166910
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... OMIM:603552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... OMIM:620367
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Cholestasis, Renal... ORPHA:79303
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Elevated circulating creatine kinase concentration, Acanthocytosis, Dysphagia OMIM:200150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormality of the endocrine system, Abnormal intestine morphology, Splenomegaly, Abnormal blood ... ORPHA:37042
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Micro... OMIM:235400
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased circulating carnitine concentration OMIM:611283
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:266120
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Anoperineal fistula, Increased circulating IgG ... OMIM:618213
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias... OMIM:620044
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia ORPHA:89937
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ... ORPHA:157798
Congenital Atransferrinemia
Hypothyroidism, Anemia, Abnormality of the pancreas ORPHA:1195
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Pr... OMIM:175200
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody ... OMIM:620632
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Elevated circulating C-reactive protein concentration, Increased circulating IgG level, I... OMIM:615934
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259710
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Episodic vomiting, Pancytopenia, Elevated c... OMIM:616050
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt... OMIM:274150
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplen... OMIM:608898
Wolcott-Rallison Syndrome
Jaundice, Hepatomegaly, Iron deficiency anemia, Neonatal insulin-dependent diabetes mellitus, Lym... ORPHA:1667
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Wolfram Syndrome, Mitochondrial Form
Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Diabetes mellit... OMIM:598500
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Diarrhea, Vomiting, Nausea, Autoimmune t... ORPHA:324636
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia ORPHA:51208
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Recurrent infection of the gastrointestinal tr... OMIM:301110
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Hepatomegaly, Iron deficiency anemia, Melena, Bloody diarrhea... ORPHA:100075
Developmental And Epileptic Encephalopathy 50
Anisopoikilocytosis, Anemia, Diarrhea, Hyperammonemia, Dysphagia, Acanthocytosis, Schistocytosis OMIM:616457
Erythrocytosis, Familial, 4
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... OMIM:611783
Rh-Null, Regulator Type
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Intractable diarrhea, Gastritis, Panhypogammaglobulinemia, Villous atrop... ORPHA:84064
Autoimmune Polyendocrine Syndrome, Type Ii
Cirrhosis, Steatorrhea, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Prim... OMIM:269200
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Chronic diarrhea, Megaloblastic anemia, Increased circulating... OMIM:620603
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me... OMIM:617948
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Hypochromic microcytic anemia, Diarrhea, Vomiting, Thrombocytopenia, Increased circulating ferrit... ORPHA:3240
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pan... OMIM:615688
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, ... OMIM:613280
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Erythrocytosis, Familial, 5
Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin... OMIM:617907
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascit... ORPHA:97283
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased circulating ant... OMIM:619750
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Abnormality of the endocrine... ORPHA:2905
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Diarrhea, Elevated circulating creatine kinase concentration, Abetalipoprotei... ORPHA:96180
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Intractable diarrhea, Abnormality of iron homeostasis, Decreas... OMIM:222470
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Hepatomegaly, Hypocalcemic seizures, Hypocalcemia... ORPHA:289157
Diamond-Blackfan Anemia 12
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... OMIM:615550
Interstitial Lung And Liver Disease
Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Vomiting, Hyperammonemia, Hypothyroidism, Hepatic f... OMIM:615486
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypochromic microcytic anemia, Anemia, Increased serum pyruvate, Hyperalaninemia, Vomiting, Hypot... OMIM:619147
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Hepatomegaly, Dysphagia OMIM:613561
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Abnormal ery... ORPHA:2575
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Increased c... OMIM:619632
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma, Hypogonadism, Abnormal stomach morphology, Cryptorchidism ORPHA:281090
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis... OMIM:619375
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Melena, Gastrointestinal angiodysplasia, Refracto... ORPHA:99147
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-resp... OMIM:249270
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis OMIM:266140
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Mcleod Syndrome
Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Sple... OMIM:300842
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Chronic diarrhea, Hypoalbuminemia, Hepatic steatosis, Microcytic anemia OMIM:618805
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normo... ORPHA:97280
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Abnormal pancreas mo... ORPHA:48818
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Bone-marrow foam cells, Esophageal varix, Ascites, Splenomegal... ORPHA:75233
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Hypochromic microcytic anemia, Anemia, Cholestasis, Porta... ORPHA:440713
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul... OMIM:602390
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Hypomethion... OMIM:236270
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Increased total iron binding capacity, Esophageal varix, Abnormal blood i... ORPHA:309854
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Leukocytosis, Portal hypertension, Por... ORPHA:729
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypopituitarism, Hypoalbuminemia, Hepat... OMIM:619013
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia ORPHA:27
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He... OMIM:614470
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration OMIM:121270
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Stomatocytosis... OMIM:608885
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Delayed puberty, Anemia, Anal fissure, Gastroesophageal reflux, Decreased circulating carnitine c... ORPHA:89842
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Splenomegaly, Hyperprolinemia OMIM:619046
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypotriglyceridemia, Constipatio... OMIM:618885
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Anemia ORPHA:655
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased fecal co... ORPHA:79277
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... OMIM:259720
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Lymphadenopathy, Episodic vomiting, Iron deficiency anemia, Small intestin... ORPHA:100078
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis, Hypoproteinemia OMIM:137280
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... OMIM:620121
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, High palate, Hypochromic anemia ORPHA:2720
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Diarrhea, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Infantile Liver Failure Syndrome 1
Hepatic steatosis, Hepatomegaly, Anemia, Macrocytic anemia OMIM:615438
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla... OMIM:616084
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration OMIM:619423
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Abnormal circulating porphyrin concentration, Microcytic anemia, Cholelithiasis ORPHA:79278
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma OMIM:619182
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, Gastroesophageal reflux, Diarrhea, T lymphocytopenia, Splenomegaly OMIM:608971
Pearson Syndrome
Steatorrhea, Chronic diarrhea, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Dyspha... ORPHA:699
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Periportal fibrosis, Decreased circulating hepcidin concentration, ... ORPHA:101330
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon... ORPHA:3261
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bifid uvula, C... OMIM:612561
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Diamond-Blackfan Anemia 5
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
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
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Testicular at... ORPHA:465508
Cirrhosis, Hepatomegaly, Anemia, Steatorrhea, Decreased HDL cholesterol concentration, Hypotrigly... ORPHA:14
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Megaloblastic anemia, Exocrine pancreatic insuffic... ORPHA:309108
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Leukopenia, Splenomeg... OMIM:278000
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hyperammonemia, Splenomegaly ORPHA:664
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia ORPHA:49827
Hjv Or Hamp-Related Hemochromatosis
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Diabetes mellitus,... ORPHA:79230
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Hepatomegaly, Episodic vomiting, Hyperuricemia, Diarrhea, Acute pancreatitis, L... ORPHA:20
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a... ORPHA:77297
Kasabach-Merritt Phenomenon
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... ORPHA:2330
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased ci... OMIM:300635
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Ovalocytosis, Southeast Asian
Elliptocytosis, Hemolytic anemia OMIM:166900
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Hepatomegaly, Diarrhea, Renal cyst, Hypocholesterolemia, Vomiting, Decreased circula... OMIM:212065
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Anemia, Hypokalemia, Diarrhea, Colon cancer, Hematochez... OMIM:174900
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Transcobalamin Ii Deficiency
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Diarrhea, Hyperhomoc... OMIM:275350
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentrat... ORPHA:447
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflammation of the ... OMIM:618108
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Testicular atrophy, Diabetes mellitus... OMIM:235200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... OMIM:300048
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Gastroesophageal reflux, Normochromic anemia, Hyperhomocystinemia, Elevat... OMIM:614857
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosp... OMIM:611881
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Neutrophilia, Thrombocytopen... OMIM:226990
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Vomiting,... OMIM:257200
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm... ORPHA:507
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Neutropenia in presence of ... ORPHA:436159
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Splenomegaly, Lymphopeni... OMIM:619164
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia,... OMIM:222300
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Diarrhea, Leukocytosis, Vomiting, Hyperammonemia, Thrombocytosis ORPHA:134
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Anemia, Eleva... ORPHA:2070
Cap Polyposis
Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis ORPHA:160148
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Congenital Syphilis
Anemia, Pancreatitis, Lymphadenopathy, Diarrhea, High palate, Prolonged neonatal jaundice, Thromb... ORPHA:499009
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Idiopathic Hypereosinophilic Syndrome
Anemia, Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Chronic diarrhea... ORPHA:3260
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Diarrhea, Furrowed tongue, Hamartomat... ORPHA:2930
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
8P11.2 Deletion Syndrome
Spherocytosis, High palate, Abnormality of the hypothalamus-pituitary axis, Splenomegaly, Hypogon... ORPHA:251066
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Hemochromatosis, Neonatal
Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona... OMIM:231100
Type I diabetes mellitus, Type II diabetes mellitus, Microcytic anemia ORPHA:926
Birk-Aharoni Syndrome
Macrocytic anemia OMIM:620071
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Ascites ORPHA:295
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Neuroleptic Malignant Syndrome
Hyperkalemia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase con... ORPHA:94093
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Hereditary Folate Malabsorption
Gastroesophageal reflux, Pancytopenia, Diarrhea, Glossitis, Megaloblastic anemia, Decreased circu... ORPHA:90045
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyperuricemia, Diarrhea, Decreased circ... ORPHA:199299
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Increased circulating hemoglobin concentration... OMIM:263400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron... ORPHA:98849
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... ORPHA:100026
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anemia, Anal fissure, Bloody diarrhea, Hematochezia, Ster... ORPHA:209964
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum... OMIM:619774
Pyridoxal Phosphate-Responsive Seizures
Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor... ORPHA:79096
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Lympho... OMIM:301000
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Increase... OMIM:615559
Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormality of the gastrointestinal tract, ... ORPHA:1304
Von Willebrand Disease
Gastrointestinal hemorrhage, Abnormal platelet function, Thrombocytopenia, Microcytic anemia, Abn... ORPHA:903
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Crohn's disease, Decreased ... OMIM:616100
Dilated Cardiomyopathy With Ataxia
Hypochromic microcytic anemia, Microvesicular hepatic steatosis, Hypothyroidism, Normochromic mic... ORPHA:66634
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F, ... OMIM:619769
Combined Oxidative Phosphorylation Deficiency 18
Hypersegmentation of neutrophil nuclei, Macrocytic anemia OMIM:615578
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count... OMIM:619802
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Pancytopenia, Complete or near-complete absence of specific antibody respon... OMIM:620282
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased circulating ... ORPHA:446
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... OMIM:608203
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane... OMIM:277410
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, High palate, Microcytic anemia ORPHA:98791
Neoplasm of the pancreas, Normochromic anemia, Ascites, Abnormal gastrointestinal motility, Pitui... ORPHA:97282
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating... OMIM:618398
Immunodeficiency 46
Anemia, Chronic diarrhea, Decreased circulating antibody level, Intermittent thrombocytopenia, Ne... OMIM:616740
Pearson Marrow-Pancreas Syndrome
Steatorrhea, Hepatomegaly, Refractory sideroblastic anemia, Anemia, Villous atrophy, Pancytopenia... OMIM:557000
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis OMIM:118830
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Bilateral cleft palate, Anemia of inadequate production, Neutropenia OMIM:614900
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Vomiting... ORPHA:2169
Hereditary Cryohydrocytosis With Reduced Stomatin
Jaundice, Spontaneous hemolytic crises, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Stomat... ORPHA:168577
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gastritis OMIM:616576
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Cleft palate, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Barth Syndrome
Hypochromic microcytic anemia, Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia... OMIM:302060
Arteriosclerosis, Severe Juvenile
Delayed puberty, Gastric ulcer, Anemia OMIM:208060
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Adenomatous colonic polyposis, High palate, Colon cancer, Intestinal blee... ORPHA:261584
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:457077
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227990
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Rectal polyposis, Small intestinal polyposis, Hematochezia, Adenomatous colonic polyposis... ORPHA:329971
Anemia, Congenital Dyserythropoietic, Type Iiia
Congenital hypoplastic anemia, Anemia of inadequate production, Reduced haptoglobin level, Macroc... OMIM:105600
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Esophageal varix, Splenomegaly... ORPHA:75234
Gracile Syndrome
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... OMIM:603358
Hamamy Syndrome
Hypochromic anemia, Hypoparathyroidism, High palate, Microcytic anemia OMIM:611174
Transaldolase Deficiency
Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen... ORPHA:101028
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy... OMIM:619463
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Diarrhea, Splenomegaly, Hemolytic anemia ORPHA:56425
Pulmonary Arteriovenous Malformation
Gastrointestinal infarctions, Liver abscess, Iron deficiency anemia ORPHA:2038
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Anemia, Ascites, Hypercalcemia, Thrombocytopenia ORPHA:2123
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Iron deficiency anemia, Diarrhea, Exocrine pancreatic insufficiency, Colitis ORPHA:309031
Immunodeficiency 47
Chronic diarrhea, Cholestasis, Prolonged neonatal jaundice, Leukopenia, Splenomegaly, Decreased c... OMIM:300972
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circ... ORPHA:381
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Cleft palate, Bifid uvula, Granulocytopenia, Macrocytic anemia OMIM:606164
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia ORPHA:88
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Gastrointestinal inflammation, Delayed puberty, Anemia, Iron deficiency anemia, Gastroesophageal ... ORPHA:79408
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Diarrhea, Vomiting, Constipation, Increased fecal coproporphyrin III:copr... OMIM:121300
Peutz-Jeghers Syndrome
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarc... ORPHA:2869
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Stormorken-Sjaastad-Langslet Syndrome
Abnormality of thrombocytes, Anemia, Asplenia ORPHA:3204
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Hypoproteinemia, Hypoplasia o... OMIM:603554
Dietary Iron Overload Disease
Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma... ORPHA:139507
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Stomatitis, Glossitis, Megaloblastic ... OMIM:277380
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa... OMIM:618935
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia ORPHA:108
Sandifer Syndrome
Hematemesis, Anemia, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:71272
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total... OMIM:619868
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Hyperhomocystinemia, Diarrhea, Megaloblastic anemia, Vomiting, Hypomethioninemia, Neutr... OMIM:250940
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Diar... OMIM:618495
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Ascites, Increased hematocrit ORPHA:284227
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... ORPHA:227982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:300853
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Nephrotic Syndrome, Type 1
Gastroesophageal reflux, Hypoproteinemia, Hyperlipidemia, Pyloric stenosis, Hypothyroidism, Hypoa... OMIM:256300
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:610377
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He... ORPHA:294
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia, Hyperuricemia ORPHA:371
Shwachman-Diamond Syndrome
Aplastic anemia, Steatorrhea, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity... ORPHA:811
Amme Complex
Elliptocytosis OMIM:300194
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia, Dysphagia OMIM:612379
Hypothyroidism, Decreased response to growth hormone stimulation test, Microcytic anemia ORPHA:324737
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Anemia, Lymphadenopathy, Ileus, Chronic diarrhea, Decreased FOXP3-expressing T c... OMIM:304790
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Klippel-Trénaunay Syndrome
Ascites, Hepatomegaly, Microcytic anemia, Gastrointestinal hemorrhage ORPHA:90308
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Reduced circulating prolactin concentration, Normochromic anemia, Pituitary hypothyroidism, Abnor... ORPHA:95512
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly, Abnormality of thrombocytes ORPHA:172
Fg Syndrome 3
Pyloric stenosis, Cryptorchidism, Chronic constipation OMIM:300406
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Cleft palate, Neutropenia OMIM:612562
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia OMIM:615789
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, High palate, Thrombocytopenia, Abnor... ORPHA:46059
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Elevated circulating creatine kinase concentration, Methylmalonic acidemia, Microcytic anemia, Ga... OMIM:612073
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Gastroesophageal reflux, Reduced alpha/beta synthe... OMIM:301040
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Anisopoikilocytosis, Bilobate gallbladder, Intrahepatic cholestasis, Hyperbilirubinemia, Hyperamm... OMIM:607330
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Hypothyroidism, Dysphagia, Hypogonadism, Diabetes mellitus ORPHA:98673
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Anemia, Hyperparathyroidism ORPHA:2668
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Vomiting, Splenomegaly OMIM:230350
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, Diarrhea, High palate, Thr... OMIM:617941
Central diabetes insipidus, Normochromic anemia, Reduced circulating prolactin concentration, Pit... ORPHA:95513
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Vomiting, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Imerslund-Grasbeck Syndrome 2
Diarrhea, Megaloblastic anemia, Anemia OMIM:618882
Esophageal Ring, Lower