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, 1
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... OMIM:300751
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anisocytosis, Reduced red cell pyruva... ORPHA:766
Diamond-Blackfan Anemia 13
Normocytic anemia, Elevated red cell adenosine deaminase level OMIM:615909
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis,... OMIM:237800
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Familial Adenomatous Polyposis 4
Stomach cancer, Thyroid adenoma OMIM:617100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Cirrhosis, Anisocytosis, Spleno... OMIM:616860
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Gastric Cancer
Stomach cancer OMIM:613659
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Ménétrier Disease
Nausea, Hypoproteinemia, Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter ... ORPHA:2494
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Colitis, Elevated circulatin... OMIM:604416
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Hypochromic anemia, Abnormality of the liver, Atransferrinemia OMIM:209300
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Increased circulating ferritin concentration, Sideroblasti... OMIM:600462
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Abn... ORPHA:848
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Hepa... OMIM:613313
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, High palate, High, narrow palate OMIM:257790
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Ma... ORPHA:3202
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Intrinsic Factor Deficiency
Absence of intrinsic factor, Megaloblastic anemia, Increased mean corpuscular volume, Malabsorpti... OMIM:261000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... OMIM:617780
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Prolonged neonatal jaun... OMIM:618892
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Jejunitis, Normocytic anemia, Hypocalcemia, Abnormal spleen p... ORPHA:398063
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration OMIM:300752
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Thrombocytosis, Ascites, Decreased circulating antibody level, Hepatomegaly, Iro... OMIM:226300
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Adrenal insufficiency, Hypothyroidism, Hepatospleno... ORPHA:300298
Thrombocythemia 3
Thrombocytosis OMIM:614521
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Diabetes mellitus, Persistence of hemoglobin F, ... ORPHA:231222
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Reti... OMIM:616649
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Leukocytosis, Monocytosis, Redu... OMIM:619281
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis OMIM:612653
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Increased T cell count, Constipation, Gastroesopha... ORPHA:263665
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, S... OMIM:210250
Breath-Holding Spells
Iron deficiency anemia OMIM:607578
Hyperlysinemia, Type I
Anemia, Hyperlysinemia OMIM:238700
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Retic... OMIM:185000
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Hemolytic anemia, Reti... OMIM:182900
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hypocalcemia, Splenomegaly, Abnormality of the small intestine, Hepatomegal... ORPHA:100025
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia,... ORPHA:54057
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Hyperbilirubinemia, Elli... OMIM:109270
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased serum iron, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Po... OMIM:616959
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Reduced haptoglobin level, Anisocytosis, Jaundice, Spheroc... ORPHA:71275
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Ab... OMIM:618495
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of thrombocytes... OMIM:612840
Vascular Malformation, Primary Intraosseous
Hypochromic anemia OMIM:606893
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Thrombocytosis, Coombs-positive hemolytic anemia, E... OMIM:614034
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Abnormal gastric mucosa morphology, Mal... ORPHA:1876
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Abnormality of iron homeosta... ORPHA:231214
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Elevated transferrin saturation,... OMIM:606069
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Elevated transferrin... OMIM:604250
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Dysphagia, Acanthocytosis, Decreased LDL cholesterol concentration OMIM:607236
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Hyperuricemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration... OMIM:232800
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology, Conjugated hyperbilirubinemia ORPHA:234
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Gastrointestinal hemorrhage, Increased circulating... OMIM:603909
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Leukocytosis, Agammaglobulinemia, Thrombocytosis, Intestinal malro... OMIM:243150
Plummer-Vinson Syndrome
Tongue atrophy, Decreased circulating ferritin concentration, Iron deficiency anemia, Hypochromic... ORPHA:54028
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Constipation, Megaloblastic anemia, Abnorma... ORPHA:35858
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemoly... ORPHA:90044
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis,... OMIM:266200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased circulating ferritin concentration, Exercise-induced hemolysis, Increas... OMIM:194380
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Poikilocytosis, Acanthocytosis OMIM:300367
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Microcytic anemia, Hypochromic anemia OMIM:618451
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis OMIM:200100
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Rectal prolapse, Iron deficiency anemia, Intestinal bl... OMIM:112200
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinin... ORPHA:90038
Megaloblastic Anemia, Folate-Responsive
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Cervical lymphadenopathy, Anemia, Acute... ORPHA:514
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... OMIM:609628
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytos... OMIM:618278
Increased circulating ferritin concentration, Decreased serum iron, Aceruloplasminemia, Anemia, D... OMIM:604290
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis, Decreased LDL cholesterol concentration OMIM:615558
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosi... OMIM:619652
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Blue Rubber Bleb Nevus
Microcytic anemia, Gastrointestinal infarctions, Intestinal bleeding, Volvulus ORPHA:1059
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Positive ferric chloride test OMIM:229100
Chylomicron Retention Disease
Hepatic steatosis, Fat malabsorption, Increased hepatocellular lipid droplets, Vomiting, Acanthoc... ORPHA:71
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Anemia of inadequate production, Hemolytic anemia, Elliptocytosis OMIM:166910
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Hypertriglyceridemia, Increased LDL c... OMIM:607616
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Lymphadenopathy, Hypereosinophilia, Increased circulating IgE level OMIM:212050
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Gastric ulcer, Impaired platelet aggregation, Duodenal ulcer, Iron deficiency anemia, Abnormal ci... OMIM:618372
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Periportal fibrosis,... ORPHA:64743
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Celiac Disease, Susceptibility To, 1
Stomatitis, Thrombocytosis, Vomiting, Hypocalcemia, Decreased circulating IgA level, Recurrent ap... OMIM:212750
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Decreased eosinophil count, Increased circulati... OMIM:619632
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abnormal intestine morphology... OMIM:619079
Neutropenia, Anemia, Splenomegaly OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Adenosine deaminase, elevated, hemolytic anemia due to
Hyperuricemia, Elevated red cell adenosine deaminase level, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Hypothyroidism, Bone marrow hypocellularity, Neutropenia, ... OMIM:618849
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Hepatic steatosis, Renal cyst, Cholestasis, Conjugated hyperbilirubinemia, Abn... ORPHA:79303
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombocytopenia OMIM:610539
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Jau... OMIM:274150
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Megaloblastic anemia, Anemia ORPHA:51208
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Increased circulating IgG level, Thrombocytosis, Increa... OMIM:615934
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Congenital Atransferrinemia
Anemia, Hypothyroidism, Abnormality of the pancreas ORPHA:1195
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Ane... OMIM:608898
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Autoimmune hemolytic anemia, Iron deficiency anemia, Hepatitis, Hypomagnesemia, H... ORPHA:37042
Hepatocellular Carcinoma
Hypokalemia, Anemia, Hepatic necrosis, Hyperbilirubinemia, Liver abscess, Ascites, Thrombocytopen... ORPHA:88673
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Ovarian neoplasm, ... ORPHA:157798
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Microcytic anemia, Hypothyroidism, Hepatomegaly, Macroglossia, Neutropenia, Elevated circulating ... OMIM:251900
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased plasma carnitine OMIM:611283
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Reduced natural killer cell activity,... OMIM:616050
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Elevated circulating creatine kinase concentration, Dysphagia, Acanthocytosis OMIM:200150
Copper Deficiency, Familial Benign
Anemia, Decreased circulating copper concentration, Abnormal circulating copper concentration OMIM:121270
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Neutropenia, Diabetes mellitus, T... OMIM:598500
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Chronic hemolytic anemia, Elliptocytosis, Decreased me... OMIM:617948
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Hypothyroidism, Primary adrenal insufficiency, Chronic hepatit... OMIM:269200
Li-Fraumeni Syndrome 2
Stomach cancer OMIM:609265
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Abnormality of the liver, Hyponatremia, Centra... ORPHA:1667
Syndromic Diarrhea
Intractable diarrhea, Hepatoblastoma, Hypothyroidism, Abnormality of the liver, Cirrhosis, Bloody... ORPHA:84064
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcy... OMIM:259720
Developmental And Epileptic Encephalopathy 50
Schistocytosis, Acanthocytosis, Anemia, Anisopoikilocytosis, Hyperammonemia OMIM:616457
Gastrointestinal hemorrhage, Constipation, Abnormality of the thyroid gland, Primary hyperparathy... ORPHA:97283
Autoerythrocyte Sensitization Syndrome
Nausea, Gastrointestinal hemorrhage, Thrombocytosis, Autoimmune thrombocytopenia, Abnormal erythr... ORPHA:324636
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Intussusception, Ovarian ... OMIM:175200
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Nausea, Intermittent diarrhea, Increased hematocrit, Intrahe... ORPHA:100076
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Bone marrow hypocellularity, Thromboc... OMIM:615688
Familial Benign Copper Deficiency
Anemia, Decreased circulating copper concentration ORPHA:1551
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Polycythemia, Cirrhosis, ... OMIM:613280
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Fat malabsorption, Diabetes insipidus, Acanthocytosis, Elevated circulating... ORPHA:96180
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Malabsorption, Hypochrom... ORPHA:77297
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia, Di... ORPHA:3240
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Gastrointestinal hemorrhage, Constipation, Abnormality of the thyroid gland, Primary hyperparathy... ORPHA:97280
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Neuroendocrine Tumor Of Stomach
Paraganglioma, Bloody diarrhea, Intermittent diarrhea, Zollinger-Ellison syndrome, Protracted dia... ORPHA:100075
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... OMIM:617514
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Bloody diarrhea, Leukocytosis, Increased circula... OMIM:618213
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Megaloblastic anemia, Gastritis, Abnormal erythrocyte m... ORPHA:2575
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Splenomegaly, Hepato... OMIM:602390
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Chronic diarrhea, Hypoalbuminemia, Pancreatitis OMIM:618805
Diamond-Blackfan Anemia 11
Bone marrow hypocellularity, Neutropenia, Anemia, Anemia of inadequate production, Cleft palate OMIM:614900
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Gastroesophageal reflux, Thiamine-responsive megaloblastic anemia, Diabetes... OMIM:249270
Interstitial Lung And Liver Disease
Hypothyroidism, Hepatic steatosis, Cholestasis, Thrombocytosis, Hepatomegaly, Anemia, Cirrhosis, ... OMIM:615486
Wolman Disease
Adrenal insufficiency, Splenomegaly, Adrenal calcification, Hepatomegaly, Esophageal varix, Anemi... ORPHA:75233
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Acquired Von Willebrand Syndrome
Hypochromic anemia, Gastrointestinal angiodysplasia, Gastrointestinal hemorrhage, Normocytic anem... ORPHA:99147
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hepatomegaly, Sideroblastic anemia, Dysphagia OMIM:613561
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Malabsorption, Thrombocytopenia,... OMIM:229050
Ileal Neuroendocrine Tumor
Nausea, Intermittent diarrhea, Zollinger-Ellison syndrome, Extrahepatic cholestasis, Increased se... ORPHA:100078
Jejunal Neuroendocrine Tumor
Nausea, Intermittent diarrhea, Zollinger-Ellison syndrome, Extrahepatic cholestasis, Increased se... ORPHA:100077
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Vomiting, Increased serum pyruvate, Anemia, Hyperalaninemia, Hypochromic microcyt... OMIM:619147
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Cryptorchidism, Testicular seminoma, Acute leukemia, Hypogonadism ORPHA:281090
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Increased circulating ferritin concentration, Decreased serum iron, Abnormal pancreas morphology,... ORPHA:48818
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Congenital Erythropoietic Porphyria
Increased erythrocyte protoporphyrin concentration, Leukopenia, Abnormal circulating porphyrin co... ORPHA:79277
Mcleod Syndrome
Splenomegaly, Hepatomegaly, Acanthocytosis, Elevated circulating creatine kinase concentration, R... OMIM:300842
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Abnormality of the liver, Portal hypertension, Decreased circulating ferritin conce... ORPHA:309854
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Thrombocytopenia OMIM:617021
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Pancreatitis, Hepatomegaly, Anemia, Macrocytic anemia, Thrombocytopenia, Hyperammonemia ORPHA:27
Wt Limb-Blood Syndrome
Pancytopenia, Thrombocytopenia, Leukemia, Hypoplastic anemia OMIM:194350
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:250940
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Acute myel... ORPHA:86839
Trichohepatoenteric Syndrome 1
Intractable diarrhea, Bifid uvula, Renal cortical microcysts, Abnormality of the pancreas, Choles... OMIM:222470
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Macrocytic anemia, Hyperalaninemia OMIM:619046
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Cholelithiasis, Cirrhosis, Abnormal circulating porphyrin concentration ORPHA:79278
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, High palate, Hypochromic anemia ORPHA:2720
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Cholestasis, Anemia, Hypochromic microcytic anemia, Hepatitis, Cholestatic l... ORPHA:440713
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Hypothyroidism, Hepatic steatosis, Hepatosplenomegaly, Hypopituitarism, Hypoal... OMIM:619013
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Hypothyroidism, Hypogonadotropic hypogonadism, Port... ORPHA:465508
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Anemia ORPHA:655
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Combined Oxidative Phosphorylation Deficiency 53
Elevated circulating C-reactive protein concentration, Hepatomegaly, Hypochromic microcytic anemia OMIM:619423
Pearson Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Hypokalemia, Hypothyroidism, Macronodular cirrho... ORPHA:699
Infantile Liver Failure Syndrome 1
Anemia, Hepatic steatosis, Hepatomegaly, Macrocytic anemia OMIM:615438
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia OMIM:236270
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Thrombocytosis, Ascites, Visceromegaly, Increased ... ORPHA:2905
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Periportal fibr... ORPHA:101330
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Decreased serum iron, Constipation, Gastroesophageal reflux, Decreased plas... ORPHA:89842
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Fat malabsorption, Hypothyroidism, Hepatic steatosis, Cirrhosis, Decreased LDL cholesterol concen... ORPHA:14
Diamond-Blackfan Anemia 6
Bifid uvula, Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, C... OMIM:612561
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hyperammonemia ORPHA:664
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Thrombocytopenia OMIM:613839
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Abnormality of th... ORPHA:172
Lysosomal Acid Lipase Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Diarrhea, Adrenal calcification, Decreased HDL cholester... OMIM:278000
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Diarrhea, Thrombocytopenia, Diabetes mellitus ORPHA:49827
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Macrocytic anemia OMIM:300946
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hypothyroidism, Hepatic steatosis, Renal cyst, Thrombocytosis, V... OMIM:212065
Juvenile Polyposis Syndrome
Hematochezia, Hypokalemia, Colon cancer, Intussusception, Rectal prolapse, Anemia, Duodenal adeno... OMIM:174900
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Anemia, Dysphagia, Thrombocytopenia OMIM:230900
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Fat malabsorption, Megaloblastic anemia, Chron... ORPHA:309108
Hemochromatosis Type 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Pyloric stenosis OMIM:188025
Hamamy Syndrome
Microcytic anemia, High palate, Hypochromic anemia, Hypoparathyroidism, Dysphagia OMIM:611174
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Decreased circulating IgG level, Leuk... OMIM:613011
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Decreased serum iron, Reduced haptoglobin level, Increased blood urea n... ORPHA:447
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Malabsorpti... ORPHA:33355
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Colitis, Splenomega... OMIM:300635
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B ly... OMIM:603554
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Cardiomegaly, Spleno... OMIM:235200
Dermatitis Herpetiformis
Microcytic anemia, Malabsorption ORPHA:1656
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Eosinophilic Gastroenteritis
Hematochezia, Eosinophilia, Abnormality of the gastrointestinal tract, Leukocytosis, Vomiting, El... ORPHA:2070
Amme Complex
Elliptocytosis OMIM:300194
Blackfan-Diamond Anemia
High palate, Leukopenia, Thrombocytosis, Cleft soft palate, Erythroid hypoplasia, Acute myeloid l... ORPHA:124
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Colon cancer, Splenomegaly, Hepatomegaly, Hamartomatous polyposis, An... ORPHA:2930
Immunodeficiency 48
Diarrhea, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly OMIM:269840
Mitochondrial Dna Depletion Syndrome 18
Microcytic anemia OMIM:618811
Kasabach-Merritt Syndrome
Leukopenia, Abnormal lymphatic vessel morphology, Neutropenia, Anemia, Reticulocytosis, Microangi... ORPHA:2330
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Diarrhea OMIM:608971
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Immunodeficiency 76
T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Lymphadenopathy, L... OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Hypokalemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Increased circulating... ORPHA:97282
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia OMIM:615578
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Testicular atroph... OMIM:222300
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
High palate, Macroglossia, HbH hemoglobin, Protruding tongue, Reduced alpha/beta synthesis ratio,... OMIM:141750
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... OMIM:300048
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes ORPHA:721
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Gastritis, Inflammation of the large intestine, B lymphocytopenia, Perianal ab... OMIM:618108
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Colitis, Myeloprolif... ORPHA:3260
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Testicular atrophy, Anemia, Pure red cell aplasia, Hypogona... OMIM:618165
Pyridoxal Phosphate-Responsive Seizures
Hypoargininemia, Abnormal circulating tyrosine concentration, Pyridoxine-responsive sideroblastic... ORPHA:79096
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Abnormality o... OMIM:231100
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst, Decreased serum creatinine, Constipation, Hypotriglyceridemia, Iron deficiency anemi... OMIM:618885
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
8P11.2 Deletion Syndrome
High palate, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Splen... ORPHA:251066
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Atrophic gastritis, Diarrhea ORPHA:160148
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Nausea, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic mye... ORPHA:98849
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly, Hyperuricemia, Diarrhea, Hyperammonemia, Vomiting ORPHA:134
Fanconi Anemia, Complementation Group T
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:616435
Erythrocytosis, Familial, 2
Increased red blood cell mass, Elevated circulating erythropoietin concentration, Increased hemog... OMIM:263400
Microcytic anemia, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:926
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neuroleptic Malignant Syndrome
Nausea, Leukocytosis, Hyponatremia, Thrombocytosis, Hyperkalemia, Hypocalcemia, Hyperuricemia, El... ORPHA:94093
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Ascites ORPHA:295
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Reduced natural killer cell activity,... OMIM:615559
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Stercoral ulcer, Bloody mucoid diarrhea, Re... ORPHA:209964
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Autoimmune thr... OMIM:616100
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Gastroesophageal reflux, Decreased circulating ... ORPHA:90045
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Hyperammonemia ORPHA:79312
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Nausea, Abnormality of the gastrointestinal tract, Leukopenia, Leukocytosis, Increased circulatin... ORPHA:1304
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased circulating total IgM, Increased circulating IgA level, Autoimmune hemoly... OMIM:301000
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hyponatremia, Normocytic anemia, Hypercalcemia, Hashimoto thyroiditis, Graves disea... ORPHA:199299
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Hypothyroidism, Normochromic microcytic anemia, Elevated circul... ORPHA:66634
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Gastroesophageal reflux, Increased size of nasopharyngeal adenoids, ... OMIM:619769
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemia, Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric... ORPHA:329971
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Chromosome 15Q25 Deletion Syndrome
Cleft palate, Macrocytic anemia OMIM:614294
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Congenital hepatic fib... ORPHA:446
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, High palate, HbH hemoglobin ORPHA:98791
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Constipation, Gastroesophageal reflux, Macroglossia, HbH hemoglobin, Protruding tongue, Reduced a... OMIM:301040
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Anemi... OMIM:618398
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Arteriosclerosis, Severe Juvenile
Anemia, Delayed puberty, Gastric ulcer OMIM:208060
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Conjugated hyperbilirubinemia, Jaundice, Spontaneous hemolytic crises, Stomat... ORPHA:168577
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Abnormality of the liver, Neutropenia, Increased mean corpuscu... ORPHA:2169
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Hepatoblastoma, Colon cancer, Desmoid tumors, Iron deficiency anemia, Adenomatous co... ORPHA:261584
Wilson Disease
Hepatomegaly, Esophageal varix, Atypical or prolonged hepatitis, Hypoparathyroidism, Hemolytic an... OMIM:277900
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Diarrhea ORPHA:56425
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Esophageal varix, Hypertriglyceridemi... ORPHA:75234
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Cogan Syndrome
Thrombocytosis, Anemia, Leukocytosis ORPHA:1467
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Hepatomegaly, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Niemann-Pick Disease, Type A
Microcytic anemia, Constipation, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged ne... OMIM:257200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent t... OMIM:618935
Peutz-Jeghers Syndrome
Esophageal neoplasm, Abnormality of the gastrointestinal tract, Gastrointestinal carcinoma, Gastr... ORPHA:2869
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... OMIM:616740
Gracile Syndrome
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... OMIM:603358
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Abnormality of thrombocytes ORPHA:3204
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia ORPHA:88
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Gastr... ORPHA:44890
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gastritis OMIM:616576
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Diarrhea, Steatorrhea ORPHA:309031
Diamond-Blackfan Anemia 1
High palate, Congenital hypoplastic anemia, Colon cancer, Thrombocytosis, Elevated red cell adeno... OMIM:105650
High palate, Schistocytosis, Myelomeningocele, Hepatosplenomegaly, Acanthocytosis, Intrahepatic c... OMIM:607330
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Type... ORPHA:227990
Transaldolase Deficiency
Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulating glutamine conce... ORPHA:101028
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia ORPHA:108
Shwachman-Diamond Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Chronic neutropenia, Anemia, Diabetes mellitus, ... ORPHA:811
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis OMIM:614262
Pulmonary Arteriovenous Malformation
Gastrointestinal infarctions, Iron deficiency anemia, Liver abscess ORPHA:2038
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Esophageal varix, Nodular regenerative hyperplas... OMIM:619463
African Iron Overload
Increased circulating ferritin concentration, Viral hepatitis, Hepatic steatosis, Hepatic bridgin... ORPHA:139507
Nephrotic Syndrome, Type 1
Hypothyroidism, Hypoproteinemia, Hyperlipidemia, Gastroesophageal reflux, Pyloric stenosis, Hypoa... OMIM:256300
Tempi Syndrome
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Immunodeficiency 47
Exocrine pancreatic insufficiency, Accessory spleen, Cholestasis, Decreased circulating total IgG... OMIM:300972
Microcytic anemia, Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Hyperhomocystinemia, High palate, Megaloblastic anemia, Methylmalonic acidemia, Neu... OMIM:277380
Epidermolysis Bullosa, Junctional 1B, Severe
Pyloric stenosis OMIM:226700
Myopathy With Lactic Acidosis, Hereditary
Elevated circulating creatine kinase concentration, Sideroblastic anemia OMIM:255125
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Biliary tract a... ORPHA:79301
Klippel-Trénaunay Syndrome
Microcytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Ascites ORPHA:90308
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased serum zinc, Decreased plasma total carnitine, Gastrointestinal inflammation, Gastroesop... ORPHA:79408
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein, Esop... OMIM:226730
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Type... ORPHA:227982
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, High palate, Normocytic anemia, Hyperechogenic pancreas, Hepat... OMIM:617941
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased prop... OMIM:300853
Sandifer Syndrome
Hiatus hernia, Gastroesophageal reflux, Anemia, Episodic vomiting, Hematemesis, Esophagitis ORPHA:71272
Cartilage-Hair Hypoplasia
Congenital hypoplastic anemia, Aganglionic megacolon, Impaired lymphocyte transformation with phy... OMIM:250250
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Increased fecal coproporphyrin 3, Diarrhea, V... OMIM:121300
High palate, Hepatomegaly, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, Abnormal p... ORPHA:46059
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Vomiting OMIM:230350
Short Stature With Microcephaly And Distinctive Facies
Anemia, Anisopoikilocytosis OMIM:615789
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Malabsorptio... OMIM:214900
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... ORPHA:158061
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Bone marrow hypocellularity, Neutropenia, Anemia, Thrombocytopenia OMIM:617243
Congenital Disorder Of Glycosylation, Type Iq
Microcytic anemia OMIM:612379
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Anemia, Hyperparathyroidism, Hypercalcemia ORPHA:2668
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia OMIM:141000
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Elevat... OMIM:610377
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Hypokalemia, Gastrointestinal carcinoma, Hypocalcemia, Xerostomia, Hamartomatous po... OMIM:175500
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia, Type I diabetes mellitus ORPHA:290
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Diarrhea, Sclero... OMIM:308230
Gonadotropin deficiency, Nausea, Abnormal size of pituitary gland, Hyponatremia, Panhypopituitari... ORPHA:95512
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... OMIM:304790
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Diamond-Blackfan Anemia 7
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia, Esophagitis, Cleft palate OMIM:612562
Autosomal Dominant Optic Atrophy, Classic Form
Hypothyroidism, Dysphagia, Diabetes mellitus, Macrocytic anemia, Hypogonadism ORPHA:98673
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Marburg Hemorrhagic Fever
Hypokalemia, Nausea, Elevated circulating creatinine concentration, Pancreatitis, Lymphopenia, Th... ORPHA:99826
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, High palate, Leukopenia, Bone marrow hypocellularity, Hypocalcemia, Hepatomegaly, S... ORPHA:2785
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Addison Disease
Primary adrenal insufficiency, Hashimoto thyroiditis, Constipation, Thymoma, Diarrhea, Adrenal ca... ORPHA:85138
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Elevated circulating C-reactive protein concentration,... ORPHA:54251
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Central diabetes insipidus, Gonadotropin deficiency, Nausea, Abnormal size of pituitary gland, Ab... ORPHA:95513
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Trichohepatoenteric Syndrome 2
Decreased serum iron, Colitis, Hepatomegaly, Hepatitis, Villous atrophy, Cirrhosis, Diarrhea OMIM:614602
Arthrogryposis Multiplex Congenita 5
Poikilocytosis, Normocytic anemia, Acanthocytosis OMIM:618947
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Lesch-Nyhan Syndrome