Gene: Picalm MGI:2385902

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

phosphatidylinositol binding clathrin assembly protein

Synonyms:

fit1, fit-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Picalm 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.

Human diseases associated with Picalm (1 diseases)
Human diseases predicted to be associated with Picalm (713 diseases)

The table below shows human diseases associated to Picalm by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Leukemia, Acute Myeloid		Acute myeloid leukemia	OMIM:601626

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

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Anemia, Sideroblastic, 1	Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Elevated hepatic transaminase, Anemia, Splenomegaly	ORPHA:75563
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep...	OMIM:613313
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated...	OMIM:616278
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,...	ORPHA:848
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E...	ORPHA:231214
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Failure to thrive, Hepatosple...	OMIM:609628
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly	OMIM:237800
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Increased circulating ferritin concentration, Failure to thrive, Hypochromic anemia, Pappenheimer...	OMIM:600462
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Elevated circulating C-reactive protein concentration, Hepatomegaly, Short sta...	OMIM:619423
Atransferrinemia	Atransferrinemia, Abnormality of the liver, Hypochromic anemia	OMIM:209300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Elevated hepatic transamina...	OMIM:604250
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo...	OMIM:212050
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase...	OMIM:300752
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato...	OMIM:259720
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Small for gestational age, Increased serum pyruvate, Hypochromic microcytic an...	OMIM:619147
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis...	OMIM:231100
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o...	ORPHA:231222
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature	ORPHA:3319
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Majeed Syndrome	Failure to thrive, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cache...	ORPHA:77297
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly, Elevated ci...	OMIM:257200
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Short stature, Severe postnatal growth retardation, Cholestasis, Hypoc...	ORPHA:440713
Dilated Cardiomyopathy With Ataxia	Growth delay, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, Elevated circulati...	ORPHA:66634
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm...	OMIM:604416
Aceruloplasminemia	Increased circulating ferritin concentration, Abnormal pancreas morphology, Abnormal enzyme/coenz...	ORPHA:48818
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,...	OMIM:615631
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Hyperbilirubinemia, Short stature, Anisocytosis, Poikilocytosi...	ORPHA:98870
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Microcyti...	OMIM:619013
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Mild postnatal growth...	OMIM:224120
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Growth delay, Thrombocytopenia, Hypochromic microcy...	ORPHA:3240
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Cholestasis, Increased se...	OMIM:603358
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis,...	OMIM:606069
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla...	OMIM:615285
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Increased...	OMIM:619632
Oculocerebral Hypopigmentation Syndrome Of Preus	Growth delay, Hypochromic anemia	OMIM:257790
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Abnormal circulating porphyrin concentration...	ORPHA:79278
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Umbilical hernia, Hypochromic anemia	OMIM:606893
Ménétrier Disease	Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia	ORPHA:2494
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:615234
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Shor...	OMIM:607616
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Elevated circulating amyloid A, Short stat...	OMIM:619750
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Cholestasis, Progressive Familial Intrahepatic, 10	Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Elevated circulating aspartate amin...	OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc...	OMIM:613673
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:616860
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Short stature, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemoglobin,...	OMIM:141750
Barth Syndrome	Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropen...	OMIM:302060
Plummer-Vinson Syndrome	Decreased circulating ferritin concentration, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa...	OMIM:618963
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Growth delay, Anemia, Lymphadenop...	ORPHA:100025
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia	OMIM:222800
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Neutropenia	OMIM:251900
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Microvesicular hepatic steatosis, Postnatal growth retardation, I...	OMIM:610198
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Hypermanganesemia With Dystonia 1	Decreased liver function, Hepatomegaly, Polycythemia, Cirrhosis, Elevated hepatic transaminase, H...	OMIM:613280
Hemochromatosis Type 2	Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge...	ORPHA:79230
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat...	ORPHA:514
Nephronophthisis	Anemia	ORPHA:655
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Hyperbilir...	ORPHA:1667
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Microcytic anemia	OMIM:618811
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Hyperbilirubinemia, Short stature, Splenomegaly, Elevated circulating aspartate ami...	OMIM:620010
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Increased se...	OMIM:602390
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Iron def...	ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper...	OMIM:603552
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia	OMIM:261000
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia, Short stature	ORPHA:98791
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l...	ORPHA:100024
Trichohepatoenteric Syndrome 1	Failure to thrive, Hepatomegaly, Jaundice, Short stature, Splenomegaly, Cirrhosis, Small for gest...	OMIM:222470
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ...	ORPHA:446
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo...	OMIM:617514
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a...	OMIM:235700
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Short stature, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, H...	OMIM:614480
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Somatostatinoma	Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext...	ORPHA:97283
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cir...	ORPHA:465508
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Growth delay, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia...	OMIM:301040
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Sideroblastic anemia, Intrauterine growth retardation, Thrombocytopenia	OMIM:617021
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:278000
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Mantle Cell Lymphoma	Weight loss, Lymphadenopathy, Splenomegaly	ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki...	OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Elevated circu...	OMIM:615559
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ...	OMIM:269600
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Jaundice, Splenomegaly, Decreased hemoglobin concentration, Cholecy...	OMIM:266200
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration, Short stature	ORPHA:1551
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Increased circ...	ORPHA:86841
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Microcytic anemia, Elevated hepatic transaminase	OMIM:612379
Aceruloplasminemia	Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Anemia, Congenital Dyserythropoietic, Type Iiia	Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia	OMIM:105600
Congenital Disorder Of Glycosylation, Type Ii	Short stature, Decreased body weight, Hepatomegaly, Iron deficiency anemia	OMIM:607906
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage...	ORPHA:507
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Infantile Liver Failure Syndrome 1	Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans...	OMIM:615438
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir...	OMIM:619658
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In...	OMIM:209950
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Galactosemia Iii	Failure to thrive, Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Hypergalact...	OMIM:230350
Immunodeficiency 64	Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ...	OMIM:618534
Srd5A3-Cdg	Elevated hepatic transaminase, Microcytic anemia	ORPHA:324737
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Decreased circulating copper concentration	OMIM:121270
Syndromic Diarrhea	Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Short stature, Cirrhosis, Hypoplasia of ...	ORPHA:84064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa...	ORPHA:309854
Glycogen Storage Disease Vi	Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Elevated ...	OMIM:232700
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Failure to thrive, Hepatomegaly, Elevated hepatic transaminase, Growth delay, Sideroblastic anemia	OMIM:613561
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Decreased methio...	OMIM:250940
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ...	OMIM:300972
Acatalasemia	Microcytic anemia, Reduced catalase level	ORPHA:926
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro...	OMIM:610333
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellul...	OMIM:235200
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating anti...	OMIM:226300
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Abnormal enzy...	ORPHA:101330
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Short stature, Iron deficiency ...	OMIM:212750
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega...	OMIM:612714
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection...	OMIM:608971
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice	ORPHA:79238
Diamond-Blackfan Anemia 5	Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia	OMIM:615085
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Rh Deficiency Syndrome	Hypochromia, Jaundice, Spherocytosis, Hyperbilirubinemia, Anisocytosis, Hepatosplenomegaly, Macro...	ORPHA:71275
Trichohepatoenteric Syndrome 2	Failure to thrive, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis, Decreas...	OMIM:614602
Congenital Atransferrinemia	Anemia	ORPHA:1195
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Decreased methio...	OMIM:236270
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr...	OMIM:619824
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H...	OMIM:616828
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Short stature, Splenomegaly, Hemolytic anemia, Growth delay, Jaundice, Hyperkalemia	OMIM:608885
Omenn Syndrome	Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t...	OMIM:603554
Gaucher Disease, Type Iii	Decreased body weight, Hepatomegaly, Short stature, Splenomegaly, Decreased beta-glucocerebrosida...	OMIM:231000
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ...	OMIM:611881
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy...	OMIM:616689
Hereditary Elliptocytosis	Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ...	ORPHA:288
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt...	OMIM:616959
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Decreased liver function, Hepatomegaly, Elevated ci...	ORPHA:158061
Iron Overload In Africa	Elevated transferrin saturation	OMIM:601195
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Immunodeficiency 48	Failure to thrive, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Absence of CD8-positive ...	OMIM:269840
Gracile Syndrome	Increased circulating ferritin concentration, Intrauterine growth retardation, Decreased transfer...	ORPHA:53693
Monosomy 22	Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus	ORPHA:96123
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, Lymphadenopathy	OMIM:619164
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Immunodeficiency 54	Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Postnatal growth retardation, Lymph...	OMIM:609981
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Wolman Disease	Hepatomegaly, Splenomegaly, Hepatic failure, Cachexia, Growth delay, Anemia, Bone-marrow foam cel...	ORPHA:75233
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa...	OMIM:308240
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly	OMIM:612126
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly	ORPHA:163596
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Short stature, Severe postnatal growth retardation, Microcytic anemia, Delayed puberty, Moderate ...	ORPHA:293967
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly	OMIM:118830
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hy...	OMIM:619046
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Short stature, Small for gestational age, T lymphocytopenia, Elevated h...	ORPHA:2959
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Ascites	ORPHA:90308
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Growth delay	OMIM:601815
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,...	ORPHA:37042
Bleeding Disorder, Platelet-Type, 16	Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating a...	ORPHA:79303
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt...	OMIM:611490
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Lymphoproliferative Syndrome, X-Linked, 2	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas...	OMIM:300635
Harderoporphyria	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolo...	OMIM:618892
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Short statur...	OMIM:607271
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Wilson Disease	Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,...	ORPHA:905
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg...	ORPHA:824
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev...	OMIM:613011
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep...	ORPHA:79301
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia	OMIM:615578
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia,...	ORPHA:79312
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega...	OMIM:214900
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype...	OMIM:614857
Sandhoff Disease	Failure to thrive, Hepatomegaly, Splenomegaly	ORPHA:796
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr...	OMIM:251880
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+...	OMIM:619802
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti...	OMIM:601775
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ...	ORPHA:2169
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia	OMIM:300946
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Congenital Disorder Of Glycosylation, Type Iit	Short stature, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron deficien...	OMIM:618885
Transaldolase Deficiency	Failure to thrive, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, ...	OMIM:606003
Leukocyte Adhesion Deficiency Type Ii	Failure to thrive, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Short stature, He...	ORPHA:99843
Congenital Rubella Syndrome	Hepatomegaly, Jaundice, Short stature, Splenomegaly, Anemia, Thrombocytopenia, Intrauterine growt...	ORPHA:290
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Short stature, Neutropenia, Bone marrow hypocellularity, Anemia	OMIM:614900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Short stature, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia...	OMIM:612526
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy	ORPHA:37748
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Mevalonic Aciduria	Failure to thrive, Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentratio...	OMIM:610377
H Syndrome	Histiocytosis, Short stature, Hepatosplenomegaly, Enlarged kidney, Hypertriglyceridemia, Microcyt...	ORPHA:168569
Babesiosis	Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun...	ORPHA:108
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Impaired T cell function, Low alkal...	OMIM:201100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ...	ORPHA:89842
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Gaucher Disease, Type Ii	Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230900
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Neonatal Severe Primary Hyperparathyroidism	Short stature, Hepatomegaly, Splenomegaly	ORPHA:417
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy	ORPHA:66661
Griscelli Syndrome	Hepatomegaly, Short stature, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, ...	ORPHA:381
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemoly...	OMIM:618495
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H...	OMIM:306000
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 2	Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Short s...	OMIM:601847
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ...	OMIM:267700
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Short stature, Hypochromic anemia	ORPHA:2720
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod...	ORPHA:54251
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi...	OMIM:616649
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Growth delay, Polycythemia	OMIM:250800
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ...	OMIM:603553
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice	OMIM:613839
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circula...	ORPHA:79096
Wt Limb-Blood Syndrome	Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia	OMIM:194350
Congenital Disorder Of Glycosylation, Type Ik	Intrauterine growth retardation, Hepatomegaly, Splenomegaly	OMIM:608540
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Increased circulating lactate dehydroge...	OMIM:210250
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:86893
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis...	ORPHA:541423
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis...	OMIM:185000
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi...	OMIM:182900
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem...	ORPHA:822
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Bile Acid Synthesis Defect, Congenital, 2	Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase co...	OMIM:235555
African Iron Overload	Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno...	ORPHA:139507
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Elevated ...	OMIM:614576
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic ane...	OMIM:612561
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas...	OMIM:194380
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Tyrosinemia Type 1	Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Fanconi Anemia, Complementation Group T	Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia,...	OMIM:301078
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Failure to thrive, Lymphopenia, Decreased...	ORPHA:331206
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom...	OMIM:619525
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Decreased glucosephosphate isomerase level, Sple...	OMIM:613470
Infantile Sialic Acid Storage Disease	Failure to thrive, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubine...	OMIM:269920
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he...	OMIM:613490
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:109270
Glycogen Storage Disease Ixc	Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertri...	OMIM:613027
Shwachman-Diamond Syndrome 1	Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Short stature, Persistence of...	OMIM:260400
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase concentration, Th...	OMIM:618775
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy, Iron deficiency anemia, Ele...	ORPHA:100075
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni...	ORPHA:247598
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli...	ORPHA:98849
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Eisenmenger Syndrome	Increased mean corpuscular volume, Hepatomegaly, Elevated circulating C-reactive protein concentr...	ORPHA:97214
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,...	OMIM:269200
Blue Rubber Bleb Nevus	Thrombocytopenia, Abnormality of the liver, Iron deficiency anemia	OMIM:112200
Hodgkin Lymphoma	Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:98293
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi...	ORPHA:75234
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Short stature, Splenomegaly, ...	ORPHA:264580
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom...	OMIM:613812
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Short stature	OMIM:249270
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Failure to thrive, Lymphopenia, Hepatomegaly, Splenomegaly,...	OMIM:617591
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease...	ORPHA:540
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Mcleod Syndrome	Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Elevated circulat...	OMIM:300842
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Failure to thrive, Increased circulating IgA level, Hepatom...	OMIM:256040
Congenital Disorder Of Glycosylation, Type Iij	Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom...	OMIM:613489
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Failure to thrive, Overweight, Decreased serum iron	ORPHA:391372
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ...	OMIM:616005
Wilson Disease	Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Por...	OMIM:277900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Ascites, Splenomegaly	ORPHA:1046
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Bile Acid Synthesis Defect, Congenital, 1	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ...	OMIM:607765
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hypocalcemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentr...	OMIM:259700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Failure to thrive, Short stature, Cirrhosis, Elevated gamma-glutamyltransferase level, Elevated h...	OMIM:242150
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:618398
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased...	OMIM:308230
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Increased circulating IgA level, Hepatomegaly, Elevated circulating C-reactive...	OMIM:617388
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Short stature	ORPHA:49827
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Intrauterine growth retardation, Reduced C-peptide level, Small for gest...	OMIM:606176
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphopenia, Splenomegaly, Short stature, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeniti...	OMIM:618935
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepa...	ORPHA:370
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Ileal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminase,...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminase,...	ORPHA:100077
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr...	OMIM:301074
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ...	ORPHA:98848
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev...	ORPHA:398124
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal...	OMIM:613179
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,...	ORPHA:3226
Lysinuric Protein Intolerance	Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat...	ORPHA:470
Splenoportal Vascular Anomalies	Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous...	OMIM:271500
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Hepatomegaly, Short stature, Splenomegaly, Cirrhosis, Conjugat...	OMIM:211600
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly	OMIM:616719
Roifman Syndrome	Hepatomegaly, Short stature, Splenomegaly, Eosinophilia, Postnatal growth retardation, Lymphadeno...	OMIM:616651
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci...	OMIM:618213
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal enzyme/coenzyme activity, Short stature, Splenomegaly, Cirrhosis, Increase...	ORPHA:79240
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Prolidase Deficiency	Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Elevated cir...	OMIM:170100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Dysplastic Cortical Hyperostosis	Short stature, Hepatomegaly, Splenomegaly	ORPHA:2204
Acquired Von Willebrand Syndrome	Refractory anemia, Normocytic anemia, Hypochromic anemia	ORPHA:99147
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Decreased serum thromboxane B2, Impaired platelet aggregation, Abnormal c...	OMIM:618372
Triosephosphate Isomerase Deficiency	Cholelithiasis, Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic ...	OMIM:615512
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Paroxysmal Nocturnal Hemoglobinuria	Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, De...	ORPHA:447
Cinca Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, ...	ORPHA:1451
Griscelli Syndrome Type 2	Neutropenia, Hepatomegaly, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade...	ORPHA:79477
Fetal Gaucher Disease	Hepatomegaly, Splenomegaly, Abnormality of the spleen, Neonatal death, Pancytopenia, Thrombocytop...	ORPHA:85212
Infantile Liver Failure Syndrome 3	Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Acute hepatic failure, Cholestasis, El...	OMIM:618641
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Sideroblas...	OMIM:557000
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Lymphoproliferative Syndrome 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Decreased circ...	OMIM:615122
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function...	ORPHA:906
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration,...	ORPHA:79284
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Hypoproteinemia, Lymphadenitis, Elev...	OMIM:615895
Omenn Syndrome	Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo...	ORPHA:39041
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Gamma-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu...	ORPHA:100026
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Weight loss, Lymphadeno...	ORPHA:545
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low...	OMIM:602450
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Failure to thrive, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Met...	OMIM:277380
Caroli Disease	Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce...	ORPHA:53035
Cold Agglutinin Disease	Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:56425
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d...	ORPHA:158048
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Bilia...	ORPHA:1414
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c...	ORPHA:829
Transcobalamin Ii Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci...	OMIM:275350
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity	OMIM:605309
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Aplastic anemia, Macrocytic anemia, Pancreatic h...	ORPHA:811
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad...	ORPHA:2442
Felty Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia, Bone marrow...	ORPHA:47612
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly	OMIM:611804
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Cirrhosis, Cholecystitis, Microcytic anemia, Portal hypertension	ORPHA:774
Farber Lipogranulomatosis	Failure to thrive, Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Lipogranulomat...	OMIM:228000
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ...	OMIM:277410
Duodenal Neuroendocrine Tumor	Increased hematocrit, Extrahepatic cholestasis, Hepatic failure, Iron deficiency anemia, Elevated...	ORPHA:100076
Classic Mycosis Fungoides	Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:2584
Pfapa Syndrome	Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:42642
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly	OMIM:611762
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia	ORPHA:158029
Parenteral Nutrition-Associated Cholestasis	Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev...	ORPHA:567983
Gaucher Disease Type 1	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Biliary ...	ORPHA:77259
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par...	OMIM:240500
Ornithine Transcarbamylase Deficiency	Hepatic failure, Hyperammonemia, Splenomegaly	ORPHA:664
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Pancreatic Colipase Deficiency	Megaloblastic anemia	ORPHA:309108
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:301000
Isolated Biliary Atresia	Failure to thrive, Decreased liver function, Hepatomegaly, Periportal fibrosis, Severe failure to...	ORPHA:30391
Pancreatic Triacylglycerol Lipase Deficiency	Growth delay, Exocrine pancreatic insufficiency, Weight loss, Iron deficiency anemia	ORPHA:309031
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly...	OMIM:614700
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Hypophosphatemia, Hepatomegaly, Splenomegaly, Hypercalcemia, Calcinosis, Anemia	OMIM:239200
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology	ORPHA:2575
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hyperlysinemia, Hepatomegaly, Hypervalinemia, Leukocytosis, S...	OMIM:615673
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatomegaly, Sple...	OMIM:616100
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Short stature, Splenomegaly, Ascites, Bone-marrow foam cell...	OMIM:256550
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Gaucher Disease, Perinatal Lethal	Decreased body weight, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Neonatal ...	OMIM:608013
Orthostatic Hypotension 2	Anemia	OMIM:618182
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Umbilical hernia, Increased size of nasopharyngeal adenoids	OMIM:619769
Tyrosinemia, Type I	Failure to thrive, Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprote...	OMIM:276700
B4Galt1-Cdg	Hepatomegaly, Abnormal enzyme/coenzyme activity, Small for gestational age, Splenomegaly, Elevate...	ORPHA:79332
Hurler-Scheie Syndrome	Abnormality of the tonsils, Short stature, Hepatomegaly, Splenomegaly	ORPHA:93476
Hereditary Folate Malabsorption	Megaloblastic anemia, Failure to thrive, Eosinophilia, Decreased circulating antibody level, Panc...	ORPHA:90045
Cronkhite-Canada Syndrome	Cachexia, Anemia, Hepatomegaly, Splenomegaly	ORPHA:2930
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis	ORPHA:90044
Muckle-Wells Syndrome	Hepatomegaly, Short stature, Splenomegaly, Delayed puberty, Anemia	ORPHA:575
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Weight loss, Lymphadenopathy	ORPHA:391
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Apla...	OMIM:102700
Lead Poisoning	Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con...	ORPHA:330015
Budd-Chiari Syndrome	Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate...	ORPHA:131
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly	ORPHA:90037

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us