Gene Summary

Name:
2,3-bisphosphoglycerate mutase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating creatinine level Bpgmtm1a(KOMP)Wtsi HOM Early adult 2.74×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

DSS Histology

Images

8 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

27 Images

Legacy Phenotype Associated Images

View all 67 images

View all 6 images

Human diseases caused by Bpgm mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Azotemia, Familial
Azotemia OMIM:109160
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... OMIM:611783
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Erythrocytosis, Familial, 2
Increased red blood cell mass, Elevated circulating erythropoietin concentration, Increased hemog... OMIM:263400
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Recurrent infections, Leukocytosis, Chole... ORPHA:232
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Tempi Syndrome
Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circ... OMIM:615285
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Prolo... OMIM:300908
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Glycogen Storage Disease Vii
Cholelithiasis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic ane... OMIM:232800
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ... OMIM:194380
Sitosterolemia 1
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h... OMIM:210250
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Trimethylaminuria
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Hypermanganesemia With Dystonia 1
Cirrhosis, Hepatomegaly, Polycythemia OMIM:613280
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:615234
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis ORPHA:90044
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Diamond-Blackfan Anemia 12
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... OMIM:615550
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocy... OMIM:617514
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Poems Syndrome
Hypothyroidism, Primary adrenal insufficiency, Thrombocytosis, Ascites, Visceromegaly, Increased ... ORPHA:2905
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Rh Deficiency Syndrome
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Jaundice, Spherocytosis, Hemolytic anemia, S... ORPHA:71275
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Increased circula... OMIM:619220
Idiopathic Aplastic Anemia
Pancytopenia, Recurrent infections, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocyt... ORPHA:88
Diamond-Blackfan Anemia 5
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612528
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Graves disease, Anemia, Diabetes mellitus, Polycythemia ORPHA:542643
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
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Recurrent respiratory infections, Bone-marrow foam cells, Thr... OMIM:607616
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Hepatosplenomegaly, Abnormality of the hypothalamus-pituit... ORPHA:300298
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Fumarase Deficiency
Cholestasis, Polycythemia OMIM:606812
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Recurrent opportunistic infections, Lymphadenopath... OMIM:608971
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Recurrent infections, Microvesicular hepatic steatosis, Hepatosp... OMIM:618278
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis, Increased ... OMIM:618849
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Immunodeficiency 48
Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly, Recurrent candida infections OMIM:269840
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Granulocytopenia, Reduced natural killer cell activity, Hemophagocytosis, Anemia OMIM:608898
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Von Hippel-Lindau Syndrome
Paraganglioma, Abnormality of the liver, Pancreatic cysts, Pheochromocytoma, Polycythemia, Neopla... OMIM:193300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly, Hyperinsulinemia ORPHA:66518
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Jaundice, Prolonged neonatal jaundice, Reticulocytosis, Microangiopathic hemolyti... OMIM:274150
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Recurrent viral infections, Autoimmune throm... OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, B lymphocytopenia OMIM:619437
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Ane... OMIM:612840
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormality of the liver, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Polycythemia... ORPHA:309854
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Hepatocellular Carcinoma
Abnormality of the liver, Portal hypertension, Thrombocytosis, Ascites, Hepatomegaly, Jaundice, A... ORPHA:88673
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Schistocytosis, Thrombocytopenia OMIM:235400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Duodenal Neuroendocrine Tumor
Intestinal carcinoid, Paraganglioma, Increased hematocrit, Intrahepatic cholestasis with episodic... ORPHA:100076
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurren... OMIM:615559
Omenn Syndrome
Eosinophilia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly, Hepatomeg... OMIM:603554
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Gaisböck Syndrome
Increased hematocrit, Increased circulating renin level, Cholecystitis, Increased mean corpuscula... ORPHA:90041
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Kasabach-Merritt Syndrome
Leukopenia, Abnormal lymphatic vessel morphology, Neutropenia, Anemia, Reticulocytosis, Microangi... ORPHA:2330
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Splenomegaly, B lymphocytopenia, Recurrent bronchiolitis,... OMIM:619164
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Leukocyte Adhesion Deficiency
Leukocytosis, Impaired neutrophil chemotaxis, Impaired platelet aggregation, Bone marrow hypocell... ORPHA:2968
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Splenomegaly, Hepatomegaly ORPHA:139406
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... OMIM:613011
Von Hippel-Lindau Disease
Paraganglioma, Pancreatic cysts, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Polycythem... ORPHA:892
Beta-Thalassemia Intermedia
Hypothyroidism, Diabetes mellitus, Persistence of hemoglobin F, Cholelithiasis, Jaundice, Erythro... ORPHA:231222
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Babesiosis
Recurrent infections, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Recurre... ORPHA:108
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Splenomega... ORPHA:417
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis OMIM:603529
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Hemophagocytosis, Splenomegaly, Decreased circulating antibod... OMIM:300635
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Wolman Disease
Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adren... ORPHA:75233
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Hemophagocytosis, Sp... OMIM:615122
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Peritonitis, Pancreatitis, Reticulocytosis, Microangiopathic hemoly... ORPHA:90038
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology ORPHA:2522
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial infections, S... ORPHA:169090
Purine Nucleoside Phosphorylase Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Autoimmune thrombocytop... OMIM:613179
Sandhoff Disease
Recurrent respiratory infections, Splenomegaly, Hepatomegaly ORPHA:796
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Recurrent infections, Bone marrow hypocellul... ORPHA:47612
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Portal Hypertension, Noncirrhotic, 2
Recurrent infections, Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyper... OMIM:619463
Dominant Beta-Thalassemia
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocyto... ORPHA:231226
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Beta-Thalassemia Major
Hypothyroidism, Decreased mean corpuscular hemoglobin concentration, Diabetes mellitus, Anisopoik... ORPHA:231214
Pearson Syndrome
Pancytopenia, Hypoplastic spleen, Hypothyroidism, Adrenal insufficiency, Exocrine pancreatic insu... ORPHA:699
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hypothyroidism, Hepatoblastoma, Pseudohypoparathyroidism, Enla... ORPHA:116
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Recurrent upper respiratory tract infections, Leukopenia, Bone marrow hypocellularity, Thrombocyt... ORPHA:508542
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Thrombocytopenia, Reduc... OMIM:616050
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Acute pancreatitis, Lymphadenitis,... OMIM:618935
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Hypothyroidism, Leukocytosis, Splenomegaly, Hepatom... ORPHA:39041
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia, Type I diabetes mellitus ORPHA:290
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasi... ORPHA:79277
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Recurrent infections, Leukopenia, Portal hypertension, Peripo... ORPHA:64743
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Tyrosinosis
Hypertyrosinemia OMIM:276800
Immunodeficiency 32B
Recurrent respiratory infections, Recurrent infections, Splenomegaly OMIM:226990
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Abetalipoproteinemia
Hypothyroidism, Hepatic steatosis, Cirrhosis, Hepatomegaly, Acanthocytosis, Anemia, Reticulocytos... ORPHA:14
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Recurrent pneumonia, Recurrent upper respiratory tract infections, I... OMIM:619769
Diamond-Blackfan Anemia 10
Reticulocytopenia, Anemia, Macrocytic anemia, Steroid-responsive anemia OMIM:613309
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Recurr... OMIM:102700
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Recurrent viral infections, Splenomega... OMIM:609981
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Macrocephaly/Autism Syndrome
Recurrent infections, Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia OMIM:605309
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Recurrent bacterial infection... OMIM:603903
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Fanconi Anemia, Complementation Group E
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, T... OMIM:600901
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Recurrent bacterial infections, Splenomegaly, Hepatomegaly, Neutropenia,... OMIM:612541
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Diabetes mellitus, Ascites, Cirrhosis, Hepati... OMIM:271500
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis OMIM:153670
Fanconi Anemia, Complementation Group A
Pancytopenia, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Hypergonadotropic hypogonadism, T... OMIM:227650
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Hypothyroidism, Recurrent otitis media, Chronic ne... OMIM:614700
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Prolidase Deficiency
Recurrent pneumonia, Recurrent infections, Splenomegaly, Hepatomegaly, Increased circulating anti... OMIM:170100
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Leukopenia, Jaundice, Anemia, Hemolytic anemia, Erythroid hyperplasia, Reticulocyto... ORPHA:447
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Recurrent respiratory infections, Impaired T cell function ORPHA:30
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Po... OMIM:278000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus OMIM:618858
Fanconi Anemia, Complementation Group C
Pancytopenia, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Hype... OMIM:227645
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Telangiectasia, Hereditary Hemorrhagic, Type 2
Hepatic arteriovenous malformation, Anemia, Cirrhosis, Polycythemia OMIM:600376
Gaucher Disease Type 2
Recurrent respiratory infections, Splenomegaly, Hepatomegaly ORPHA:77260
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Recurrent res... OMIM:616005
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Splenomegaly OMIM:602271
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... ORPHA:398124
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Proteasome-Associated Autoinflammatory Syndrome 3
Recurrent infections, Splenomegaly, Thrombocytopenia, Hepatomegaly, Increased circulating antibod... OMIM:617591
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Heinz body anemia, Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis OMIM:141700
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism OMIM:608540
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Chediak-Higashi Syndrome
Recurrent infections, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepa... OMIM:214500
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Recurrent infections, Acute myeloid leukemia, He... OMIM:260400
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233710
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam... OMIM:257200
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Jaun... ORPHA:381
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus OMIM:606176
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Delayed puberty, Biliary tract obstruction, Splenomegaly, Hepatomegaly,... ORPHA:77259
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... OMIM:606003
Pfapa Syndrome
Lymphadenopathy, Recurrent pharyngitis, Splenomegaly, Hepatomegaly ORPHA:42642
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233690
Essential Thrombocythemia
Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Blackfan-Diamond Anemia
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... ORPHA:124
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Diabetes mellitus OMIM:612526
Thymoma
Leukemia, Imbalanced hemoglobin synthesis, Decreased circulating antibody level, Neoplasm of the ... ORPHA:99867
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... ORPHA:1451
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Decreased circulating antibody level, B lymph... OMIM:616084
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Muckle-Wells Syndrome
Anemia, Delayed puberty, Splenomegaly, Hepatomegaly ORPHA:575
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hepatic arteriovenous malformation, Anemia, Cirrhosis, Polycythemia OMIM:187300
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:2930
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Adrenal calcification ORPHA:75234
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibo... ORPHA:1572
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... OMIM:617388
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Impaired ADP-induced platelet aggregation, Recurrent otitis media, H... OMIM:608233
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus OMIM:619278
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Leukopenia, Pancreatitis, Jaundice, Increased circulating antibod... ORPHA:99826
Fanconi Anemia, Complementation Group D2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Neutropenia, Anemia, Annular pancreas, Retic... OMIM:227646
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Hemochromatosis, Type 2A
Cirrhosis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly OMIM:602390
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Congenital Disorder Of Glycosylation, Type Iij
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Recurrent infection of the gastroin... OMIM:613489
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Splenomegaly, Decreased circulating antib... ORPHA:540
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Hepatomegaly, Generalized ... ORPHA:829
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Primary hyperparathyroidism, Anemia, Elevated circulating parathyroid... OMIM:239200
Immunodeficiency 47
Exocrine pancreatic insufficiency, Decreased circulating total IgM, Chronic decreased circulating... OMIM:300972
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Increased circulat... OMIM:617303
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Recurrent infections, Leukopenia, Hepatosplenomegaly, Leuko... OMIM:615688
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Hepatomegaly, Lymphadeno... OMIM:616651
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:259700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Reduced natural killer cell activity, Hemophagocyto... OMIM:603553
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatocellular necrosi... OMIM:251880
Mcleod Syndrome
Splenomegaly, Hepatomegaly, Acanthocytosis OMIM:300842
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Osteopetrosis, Autosomal Recessive 7
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Decreased ... OMIM:612301
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:141750
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Hypochromic microcytic a... ORPHA:77297
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Recurrent respiratory infections, Sepsis,... ORPHA:379
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Recurrent infections, Cholestasis, Splenomegaly, Hepatomegaly, Impaired T cell func... OMIM:614576
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Recurrent infections, Hepatic steatosis, Cholestasis, Splenomegaly, Hepatocellular adenoma, Hepat... ORPHA:264580
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Splenomegaly, Hepatomegaly, Lympha... ORPHA:3162
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:306400
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly OMIM:256550
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... OMIM:105650
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, As... OMIM:259720
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Recurrent... ORPHA:77261
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Classic Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:391
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Testicular atrophy, Diabetes mellitus,... OMIM:235200
Chédiak-Higashi Syndrome
Pancytopenia, Recurrent streptococcal infections, Abnormal leukocyte morphology, Anemia, Abnormal... ORPHA:167
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia, Recurrent urinary tract infections ORPHA:847
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Hypothyroidism, Portal hypertension, Hashimoto thyroiditis, Splenomegaly, Decreased... OMIM:613385
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Splenomegaly, Sphe... ORPHA:251066
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent infections, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatocellular carcinoma, He... ORPHA:79240
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatocellular adenoma, Hepatomegaly, Portal fibros... ORPHA:370
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Waldenström Macroglobulinemia
Recurrent infections, Monoclonal immunoglobulin M proteinemia, Leukemia, Normocytic anemia, Splen... ORPHA:33226
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Hyper-Igd Syndrome
Recurrent infections, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA ... OMIM:260920
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Hypothyroidism, ... ORPHA:37042
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Neonatal sepsis, Thrombo... ORPHA:90051
Whipple Disease
Hypothyroidism, Splenomegaly, Hepatomegaly, Anemia, Mediastinal lymphadenopathy ORPHA:3452
Lead Poisoning
Decreased circulating osteocalcin level, Imbalanced hemoglobin synthesis, Anemia, Increased circu... ORPHA:330015
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:301040
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Pseudo-Torch Syndrome 1
Thrombocytopenia, Hepatomegaly, Jaundice, Splenomegaly OMIM:251290
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Splenomegaly, Hepatomegaly, Impaired T cell function,... OMIM:201100
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Mediastinal lymphadeno... ORPHA:809
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Normocytic anemia, Increased circulating antibody level, Normoch... ORPHA:91500
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Jaundice, Hepatitis, Sepsis, Lymphadenopathy, Pancreat... ORPHA:549
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly OMIM:252920
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Ascites, Cardiomegaly, Thrombocytopenia OMIM:608013
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Diabetes insipidus, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Thro... OMIM:225750
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Cholecystitis, Splenomegaly, Hepatomegaly, Increase... ORPHA:781
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Ascites ORPHA:834
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Leukocytosis, Portal hypertension, Cholestasis, Cholangitis, C... ORPHA:53035
Aredyld Syndrome
Hepatomegaly, Splenomegaly, Type I diabetes mellitus, Type II diabetes mellitus ORPHA:1133
Hermansky-Pudlak Syndrome 10
Neutropenia, Recurrent respiratory infections, Splenomegaly, Hepatomegaly OMIM:617050
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:613027
Syndromic Diarrhea
Hypothyroidism, Recurrent infections, Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thromb... ORPHA:84064
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Increased circulating IgG level, Cirrhosis, Splenomegaly... ORPHA:2137
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Portal hypertension, Cholangiocarcinoma, Decreased... ORPHA:465508
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Splenomegaly, Hepatomegaly OMIM:252900
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent pneumonia, Leukopenia, Splenomegaly, Neutropenia, Recurrent sin... OMIM:604173
Pachydermoperiostosis
Hepatomegaly, Anemia, Splenomegaly, Elevated circulating growth hormone concentration ORPHA:2796
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:257220
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:607625
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Recurrent infections, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, ... OMIM:610199
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Gaucher Disease, Type Iiic
Pancytopenia, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:231005
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Elevated circulating creatinine concentrat... ORPHA:85450
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Acholic sto... OMIM:607765
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Porphyria, Congenital Erythropoietic
Cholelithiasis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia OMIM:222700
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Hypocalcemia, Elevated circulating creatinine... ORPHA:36234
Fucosidosis
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly OMIM:230000
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Mastocytosis
Chronic leukemia, Mastocytosis, Splenomegaly, Hepatomegaly, Acute leukemia