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Gene: Usp32 MGI:2144475

Gene Summary

Name:

ubiquitin specific peptidase 32

Synonyms:

2900074J03Rik, 6430526O11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, complete penetrance	Usp32^{em1(IMPC)Mhzh}	HOM	Early adult	0.00
increased lymphocyte cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	5.04×10^-09
increased leukocyte cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	9.30×10^-05
decreased neutrophil cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.81×10^-05
decreased circulating glucose level	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	5.47×10^-08
increased mean corpuscular volume	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.71×10^-22
decreased mean corpuscular hemoglobin concentration	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	1.62×10^-08
increased red blood cell distribution width	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	7.28×10^-05
thrombocytosis	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.61×10^-09
increased mean platelet volume	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	2.29×10^-08
decreased circulating serum albumin level	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	8.33×10^-05

Download data as: TSV XLS

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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.

Human diseases associated with Usp32 (0 diseases)
Human diseases predicted to be associated with Usp32 (577 diseases)

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	Matching phenotypes	Source
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	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	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy...	OMIM:209950
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Thrombocytopenia	OMIM:598500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis	ORPHA:168621
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ...	OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Agammaglobulinemia 10, Autosomal Dominant	Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells	OMIM:619707
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ...	OMIM:150550
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis	OMIM:606445
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia	OMIM:618805
Diarrhea 13	Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia	ORPHA:289916
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Abnormal T cell morphology	OMIM:613502
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:79312
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Whim Syndrome 1	Neutropenia	OMIM:193670
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Type I diabetes m...	OMIM:301078
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A...	OMIM:615934
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, T...	OMIM:251000
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Beta-Ketothiolase Deficiency	Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hyperglycemia	ORPHA:134
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Insulin ...	ORPHA:2298
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ...	OMIM:301074
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit...	ORPHA:90362
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Reni Syndrome	Lymphopenia, Hypoalbuminemia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Anemia	OMIM:610090
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Propionic Acidemia	Pancytopenia, Hypoglycemia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:606054
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia	OMIM:229100
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis	ORPHA:79087
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Leukocytosis, Hyperammonemia, Leukopenia, Recurrent hypoglycemia, Hyperu...	ORPHA:20
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia	ORPHA:67
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto...	ORPHA:391673
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:247353
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp...	OMIM:618986
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Type I diabetes mellitus, Thrombocytosis	OMIM:212750
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia...	OMIM:251880
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Trichohepatoenteric Syndrome 1	Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ...	OMIM:222470
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:615688
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia	OMIM:617303
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy...	ORPHA:324636
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Neutropen...	ORPHA:37042
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Neutropenia, Thrombocytopenia	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Interstitial Lung And Liver Disease	Thrombocytosis, Hyperammonemia, Intraalveolar phospholipid accumulation, Anemia	OMIM:615486
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Thrombocytopenia	ORPHA:67048
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypoglycemia, Hyperammonemia, Neutropenia	OMIM:618253
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo...	ORPHA:84064
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia	OMIM:275350
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Hyperhomocystinemia, Anemia, Cystathi...	OMIM:277380
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Poems Syndrome	Thrombocytosis, Diabetes mellitus, Polycythemia	ORPHA:2905
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Neutropenia	OMIM:614900
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia	OMIM:619752
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc...	ORPHA:36234
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,...	OMIM:251900
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Hypoalbuminemia, Hypocholesterolemia	OMIM:212065
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:610021
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,...	ORPHA:79284
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:611762
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Decreased serum zinc, Hypoalbu...	ORPHA:89842
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Anemia, Neutro...	ORPHA:90051
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Brucellosis	Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism...	ORPHA:1304
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Hypoalbuminemia, Anemia	ORPHA:85443
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ...	OMIM:277900
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hypoalbuminemia, Anemia, Hepatosplenomegaly	OMIM:619487
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia	ORPHA:37748
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Abetalipoproteinemia	Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Mpi-Cdg	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia	OMIM:616271
Immunodeficiency, Common Variable, 1	Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hypoglycemia, Hyperammonemia	ORPHA:664
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia...	ORPHA:167
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Infection associated neutropenia, Neutropenia	ORPHA:445038
Alg12-Cdg	Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Th...	ORPHA:79324
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc...	ORPHA:160
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome...	OMIM:612541
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618835
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618839
Immunodeficiency 23	Hemolytic anemia, Abscess, Eosinophilia, Neutropenia, Lymphopenia	OMIM:615816
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia	ORPHA:505248
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Glycogen Storage Disease Ixb	Splenomegaly, Hypoglycemia, Hyperuricemia	OMIM:261750
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia	OMIM:604173
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Muckle-Wells Syndrome	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia	OMIM:617093
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hyperinsulinemic hypoglycemia	OMIM:602579
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1302
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Neutropenia	OMIM:618005
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypog...	OMIM:619055
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hyperlipidemia, Hyperuricemia, Neutropenia	OMIM:232220
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Hyperammonemia, Hy...	ORPHA:79282
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp...	ORPHA:2968
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-...	OMIM:617099
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoglycemia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia, Hypoglycemia	OMIM:618329
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperammonemia, Hypoglycemia, Hyperuricemia, Anemia	OMIM:246450
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Eisenmenger Syndrome	Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem...	ORPHA:97214
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Hypoglycemia, Elevated hemoglobin A1c	OMIM:616113
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Hyperammonemia, Neutropenia	OMIM:615471
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Hypophosphatemia,...	ORPHA:699
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia, Lymphocy...	ORPHA:50918
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Type I diabete...	ORPHA:171
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia	OMIM:300755
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Leigh Syndrome	Hyperalaninemia, Hypoglycemia, Anemia, Neutropenia	ORPHA:506
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Mirage Syndrome	Hyponatremia, Hypoglycemia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Th...	OMIM:617053
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten...	OMIM:603903
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia	ORPHA:228119
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Hypoglycemic seizures, H...	ORPHA:79259
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia	OMIM:613027
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Glycogen Storage Disease Ic	Hyperuricemia, Hyperlipidemia, Hypoglycemia, Cyclic neutropenia	OMIM:232240
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Khan-Khan-Katsanis Syndrome	Lymphopenia, Anemia, Neutropenia	OMIM:618460
Vici Syndrome	Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Neutropenia, D...	OMIM:242840
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:2909
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Whim Syndrome	Lymphopenia, Abnormal neutrophil morphology, Neutropenia	ORPHA:51636
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221008
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Anemia	ORPHA:221016
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia	ORPHA:33364
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Cohen Syndrome	Neutropenia	ORPHA:193
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration	OMIM:612852
Cartilage-Hair Hypoplasia	Hypocalcemia, Anemia, Neutropenia	ORPHA:175
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	ORPHA:228426
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Neutropenia	OMIM:617248
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Urachal Cyst	Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Doors Syndrome	Thrombocytosis	ORPHA:79500
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Intellectual Developmental Disorder, Autosomal Dominant 54	Neutropenia	OMIM:617799
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o...	ORPHA:331235
Smith-Lemli-Opitz Syndrome	Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole...	OMIM:270400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Neutropenia	OMIM:271510
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Zygomycosis	Brain abscess, Splenic abscess, Diabetes mellitus, Neutropenia	ORPHA:73263
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia	ORPHA:500095
Hyper-Igd Syndrome	Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly	OMIM:260920
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:619534
Leukocyte Adhesion Deficiency Type Ii	Leukocytosis, Neutrophilia, Anemia, Microcytic anemia	ORPHA:99843
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal...	OMIM:619991
Aspartylglucosaminuria	Vacuolated lymphocytes, Neutropenia	OMIM:208400
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anemia, Neutropenia	ORPHA:95455
Pmm2-Cdg	Insulin resistance, Reduced thyroxin-binding globulin, Hyperinsulinemia, Hypoalbuminemia, Impaire...	ORPHA:79318
Sponastrime Dysplasia	Neutropenia	ORPHA:93357
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Usp32

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Usp32.

No publications found that use IMPC mice or data for Usp32.

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MGI Allele	Allele Type	Produced
Usp32^{em1(IMPC)Mhzh}	Deletion	Mice
Usp32^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Usp32^{tm119273(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Usp32^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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