Gene Summary

Name:
ubiquitin specific peptidase 32
Synonyms:
2900074J03Rik,  6430526O11Rik

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
decreased neutrophil cell number Usp32em1(IMPC)Mhzh HET   Early adult 4.81×10-05
preweaning lethality, complete penetrance Usp32em1(IMPC)Mhzh HOM   Early adult 0.00
thrombocytosis Usp32em1(IMPC)Mhzh HET Early adult 4.61×10-09
increased mean corpuscular volume Usp32em1(IMPC)Mhzh HET Early adult 4.71×10-22
increased mean platelet volume Usp32em1(IMPC)Mhzh HET Early adult 2.29×10-08
increased lymphocyte cell number Usp32em1(IMPC)Mhzh HET Early adult 5.04×10-09
decreased circulating serum albumin level Usp32em1(IMPC)Mhzh HET Early adult 8.33×10-05
decreased mean corpuscular hemoglobin concentration Usp32em1(IMPC)Mhzh HET Early adult 1.62×10-08
decreased circulating glucose level Usp32em1(IMPC)Mhzh HET Early adult 5.47×10-08
increased red blood cell distribution width Usp32em1(IMPC)Mhzh HET Early adult 7.28×10-05
increased leukocyte cell number Usp32em1(IMPC)Mhzh HET Early adult 9.30×10-05

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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.

Phenotype associated images not available

Human diseases caused by Usp32 mutations

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

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

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

The table below shows human diseases predicted to be associated to Usp32 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia OMIM:615285
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Thrombocythemia 3
Thrombocytosis OMIM:614521
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iron concentratio... OMIM:616860
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ... OMIM:615234
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated ci... OMIM:604416
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... OMIM:209950
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... OMIM:300908
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina... OMIM:617780
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... OMIM:603552
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... OMIM:210250
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia OMIM:598500
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... OMIM:616050
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia OMIM:613501
Hemochromatosis, Type 3
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating... OMIM:604250
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis ORPHA:168621
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Leishmaniasis
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ... ORPHA:507
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:158061
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia ORPHA:859
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Heme Oxygenase 1 Deficiency
Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... OMIM:614034
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu... ORPHA:824
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... ORPHA:2070
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia OMIM:616738
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... ORPHA:158057
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:612561
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... ORPHA:71275
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia OMIM:613502
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... OMIM:616959
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... OMIM:277410
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hypoalbuminemia OMIM:618805
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... OMIM:150550
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy... ORPHA:292
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Anemia, Hypoalbuminemia OMIM:608104
Majeed Syndrome
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... OMIM:609628
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia, Hyperuricemia OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia ORPHA:289916
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia OMIM:251900
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an... OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia ORPHA:79312
Nephrotic Syndrome, Type 14
Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test OMIM:229100
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph... OMIM:308240
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Immunodeficiency 55
Neutropenia OMIM:617827
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... OMIM:603553
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Abnormal circula... ORPHA:2298
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr... OMIM:615934
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Hyperuricemia, Hyperammonemia ORPHA:134
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... OMIM:619220
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... ORPHA:540
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... OMIM:237800
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Whim Syndrome 1
Neutropenia OMIM:193670
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia OMIM:614857
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... ORPHA:90362
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoglycemia, Hypoalbuminemia OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:251880
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess ORPHA:67
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet... OMIM:304790
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia, Anemia OMIM:610090
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Anemia of inadequate production OMIM:614900
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Anemia, Congenital Dyserythropoietic, Type Iv
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... OMIM:613673
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... ORPHA:158048
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly OMIM:604173
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Methylmalonic Aciduria, Cblb Type
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... OMIM:251110
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Hyperammonemia, Hyperuricemia, Recurrent hypogl... ORPHA:20
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persistence of hemoglobin F, Sple... ORPHA:231226
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Propionic Acidemia
Neutropenia, Hypoglycemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Thrombocytopenia OMIM:606054
Letterer-Siwe Disease
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Thrombocyto... ORPHA:391673
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce... ORPHA:274
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia ORPHA:529799
Megaloblastic Anemia, Folate-Responsive
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... OMIM:601775
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Griscelli Syndrome Type 2
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis ORPHA:79477
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... ORPHA:572
Barth Syndrome
Granulocytopenia, Neutropenia OMIM:302060
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... OMIM:616000
Methylmalonic Aciduria, Cbla Type
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... OMIM:251100
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... OMIM:618986
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Hyperbilirubinemia, Splenomegaly OMIM:179700
Avian Influenza
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... ORPHA:454836
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Neutropenia OMIM:601495
Hepatocellular Carcinoma
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia... ORPHA:88673
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Anemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia OMIM:617303
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... ORPHA:247598
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,... OMIM:277380
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ... OMIM:615688
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia ORPHA:398124
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl... OMIM:612541
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia OMIM:251190
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet adhesion, Thrombo... ORPHA:324636
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia OMIM:618838
Retinal Venous Beading
Neutropenia OMIM:180080
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Type I diabetes mellitus, Hypocalcemia OMIM:212750
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... OMIM:607330
Juvenile Polyposis Syndrome
Anemia, Hypokalemia, Hypoalbuminemia OMIM:174900
X-Linked Agammaglobulinemia
Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:47
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly ORPHA:71493
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia ORPHA:520
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th... ORPHA:84064
Interstitial Lung And Liver Disease
Thrombocytosis, Intraalveolar phospholipid accumulation, Anemia, Hyperammonemia OMIM:615486
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Hypoglycemia ORPHA:67048
Lichtenstein Syndrome
Neutropenia OMIM:246550
Transcobalamin Ii Deficiency
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:275350
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia OMIM:246700
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... ORPHA:94093
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Congenital Disorder Of Glycosylation, Type Ia
Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia OMIM:212065
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia OMIM:242900
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... ORPHA:1959
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia ORPHA:514
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Felty Syndrome
Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia ORPHA:47612
Poems Syndrome
Polycythemia, Thrombocytosis, Diabetes mellitus ORPHA:2905
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat... ORPHA:36234
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly... ORPHA:231214
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... ORPHA:54251
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Cinca Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-reactive protein c... OMIM:607115
Hereditary Chronic Pancreatitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Diabetes mellitus ORPHA:676
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... ORPHA:79096
Elliptocytosis 2
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis OMIM:130600
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hypoglycemia OMIM:617872
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Spherocytosis, Type 4
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:612653
Alg6-Cdg
Decreased LDL cholesterol concentration, Hypoalbuminemia ORPHA:79320
Spherocytosis, Type 2
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... OMIM:260400
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Congenital Erythropoietic Porphyria
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Sp... ORPHA:79277
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Perianal abscess, Hypochromic anemia OMIM:618213
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Unclassified Myelodysplastic Syndrome
Leukocytosis, Acute myeloid leukemia ORPHA:98827
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... OMIM:613179
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... OMIM:607594
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... OMIM:109270
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... OMIM:608233
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hemolytic anemia, Anemia, Hypoalbuminemia OMIM:619487
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Methylmalonic Acidemia With Homocystinuria Type Cblf
Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Megaloblastic anemi... ORPHA:79284
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... ORPHA:14
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... OMIM:105650
Marburg Hemorrhagic Fever
Hyperamylasemia, Hypoglycemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, El... ORPHA:99826
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Anemia, Hypoalbuminemia ORPHA:85443
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Fanconi Anemia, Complementation Group E
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:600901
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Mpi-Cdg
Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Brucellosis
Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Gran... ORPHA:1304
Neonatal Alloimmune Neutropenia
Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:90051
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm... ORPHA:3226
Schnitzler Syndrome
Leukocytosis, Anemia, Splenomegaly ORPHA:37748
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... OMIM:615952
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Anemia, Lymphopenia, Thro... ORPHA:1830
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... ORPHA:167
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227650
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Ornithine Transcarbamylase Deficiency
Hyperammonemia, Hypoglycemia, Splenomegaly ORPHA:664
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ... ORPHA:89842
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me... OMIM:277400
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Spherocytosis, Type 1
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:182900
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein conc... ORPHA:160
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Anemia, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytopenia ORPHA:505248
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Alg12-Cdg
B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Recurrent hypoglycemia, Hypoalbuminemia, Th... ORPHA:79324
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Normocytic anemia, Neutropenia OMIM:617941
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia, Neonatal hypoglycemia ORPHA:445038
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Cohen Syndrome
Neutropenia, Leukopenia OMIM:216550
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia ORPHA:86843
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatosplenomegaly, Hypoalbuminemia ORPHA:367
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... OMIM:235700
Psoriasis 14, Pustular
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia OMIM:614204
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Neutropenia OMIM:608809
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 40
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia OMIM:618835
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Combined Oxidative Phosphorylation Deficiency 42
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia OMIM:618839
Immunodeficiency 23
Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... ORPHA:247585
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia ORPHA:1930
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met... ORPHA:88618
Fanconi Anemia, Complementation Group C
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227645
Glycogen Storage Disease Ib
Hypoglycemia, Neutropenia, Hyperlipidemia, Hyperuricemia OMIM:232220
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulating C-reactive ... OMIM:619644
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... ORPHA:64753
Juvenile Polyposis Of Infancy
Refractory anemia, Anemia, Hypoalbuminemia ORPHA:79076
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L... ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Hypoalbuminemia ORPHA:79396
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Neutropenia OMIM:618005
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoglycemia, Hypoalbu... OMIM:619055
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Leukocyte Adhesion Deficiency
Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia... ORPHA:2968
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Mody
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... ORPHA:552
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis, Hyponatremia ORPHA:83601
Cryptogenic Organizing Pneumonia
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia ORPHA:1302
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Cinca Syndrome
Leukocytosis, Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Splenomegaly,... ORPHA:1451
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Hypoglycemia, Megalo... ORPHA:79282
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin ORPHA:86816
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop... OMIM:617099
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Hermansky-Pudlak Syndrome 10
Neutropenia, Splenomegaly OMIM:617050
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Anemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine OMIM:246450
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protei... ORPHA:36238
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Anemia, Hypocalcemia, Pancytopenia OMIM:613658
Adult-Onset Still Disease
Leukocytosis, Abnormal circulating lipid concentration, Splenomegaly, Neutrophilia, Elevated circ... ORPHA:829
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Hypoglycemia, Hypoalbuminemia OMIM:618329
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia, Hyperalaninemia OMIM:615471
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Eisenmenger Syndrome
Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency ... ORPHA:97214
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Pearson Syndrome
Neutropenia, Hypokalemia, Anemia, Hypophosphatemia, Glycosuria, Splenomegaly, Hypomagnesemia, Hyp... ORPHA:699
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Kikuchi-Fujimoto Disease
Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Elevated circulat... ORPHA:50918
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Fanconi Anemia, Complementation Group D2
Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia OMIM:227646
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Anemia, Acute myeloid leukemia, Neutropenia OMIM:601347
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Hypoglycemia OMIM:611126
Leigh Syndrome
Anemia, Hypoglycemia, Neutropenia, Hyperalaninemia ORPHA:506
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Toxic Epidermal Necrolysis
Anemia, Thrombocytopenia, Neutropenia ORPHA:537
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma ORPHA:228119
Mirage Syndrome
Hyperkalemia, Hyponatremia, Hypoglycemia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypo... OMIM:617053
X-Linked Lymphoproliferative Disease
Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k... ORPHA:2442
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hypoglycemia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Anemia,... ORPHA:79259
Pancreatic And Cerebellar Agenesis
Hyperglycemia, Hypoglycemia, Anemia, Diabetes mellitus OMIM:609069
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute myeloid leukemia, Neutro... ORPHA:3243
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly OMIM:613027
Whim Syndrome
Lymphopenia, Neutropenia, Abnormality of neutrophil morphology ORPHA:51636
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia OMIM:618183
Rothmund-Thomson Syndrome
Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia ORPHA:2909
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen ORPHA:79456
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia OMIM:235510
Dopamine Beta-Hydroxylase Deficiency