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Gene: Nbeal2 MGI:2448554

Gene Summary

Name:

neurobeachin-like 2

Synonyms:

1110014F23Rik

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
increased mean platelet volume	Nbeal2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.53×10^-16
thrombocytopenia	Nbeal2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.74×10^-20
increased leukocyte cell number	Nbeal2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.63×10^-10
decreased bone mineral density	Nbeal2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-06
decreased bone mineral content	Nbeal2^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.61×10^-05

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Legacy Phenotype Associated Images

Nbeal2^{tm1a(EUCOMM)Wtsi}
HOM, Male, WTSI

View all 72 images

Nbeal2^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Nbeal2^{tm1a(EUCOMM)Wtsi}
abnormal retinal pigmentation, HOM, Female, WTSI

Human diseases caused by Nbeal2 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 Nbeal2 (2 diseases)
Human diseases predicted to be associated with Nbeal2 (925 diseases)

The table below shows human diseases associated to Nbeal2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Gray Platelet Syndrome		Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a...	OMIM:139090
Gray Platelet Syndrome		Abnormality of thrombocytes, Thrombocytopenia, Myelodysplasia, Splenomegaly	ORPHA:721

The table below shows human diseases predicted to be associated to Nbeal2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Essential Thrombocythemia	Abnormality of bone marrow cell morphology, Myelofibrosis, Splenomegaly, Increased megakaryocyte ...	ORPHA:3318
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo...	ORPHA:231393
Glanzmann Thrombasthenia 1	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:273800
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m...	OMIM:231095
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia	OMIM:617441
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Glanzmann Thrombasthenia 2	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619267
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb...	OMIM:124900
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:173590
Acute Panmyelosis With Myelofibrosis	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac...	ORPHA:86843
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Bleeding Disorder, Platelet-Type, 16	Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele...	OMIM:187800
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Chronic oral candidiasis, Myelofibrosis, Hemophagocytosis, Splenomegaly, ...	OMIM:301078
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti...	OMIM:155100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
+173470 integrin, beta-3	Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti...	OMIM:173470
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den...	OMIM:231200
Thrombocytopenia 6	Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis	OMIM:616937
Gray Platelet Syndrome	Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a...	OMIM:139090
Athrombia, Essential	Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ...	OMIM:209050
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia, Prolonged bleeding time	OMIM:177820
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu...	OMIM:615285
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Platelet Disorder, Undefined	Abnormal bleeding, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time	OMIM:173420
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Von Willebrand Disease, Type 3	Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M...	OMIM:277480
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Enlarged tonsils, Leukocytosis, Delayed femoral head ossi...	ORPHA:168621
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Bleeding Disorder, Platelet-Type, 8	Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ...	OMIM:609821
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Slc35A1-Cdg	Abnormal megakaryocyte morphology, Neutropenia, Pneumonia, Giant platelets, Thrombocytopenia, Abn...	ORPHA:238459
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate...	OMIM:601399
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Myelofibrosis	Myeloproliferative disorder, Myelofibrosis, Splenomegaly	OMIM:254450
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Bleeding Disorder, Platelet-Type, 18	Impaired platelet aggregation, Epistaxis, Prolonged bleeding time	OMIM:615888
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop...	OMIM:314050
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hermansky-Pudlak Syndrome 3	Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,...	OMIM:614072
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myelofibrosis, Myeloid leukemia	OMIM:616604
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia,...	OMIM:133180
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui...	ORPHA:849
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Fechtner syndrome	Nephritis, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Thrombocytop...	OMIM:153640
Myh9-Related Disease	Nephritis, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volu...	ORPHA:182050
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis	ORPHA:71289
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Platelet Aggregation, Spontaneous	Abnormal platelet function, Spontaneous platelet aggregation	OMIM:173400
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hepatomegaly, Hyposegmentatio...	ORPHA:75564
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired platelet aggregation, Menorrhagia	OMIM:617443
Quebec Platelet Disorder	Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men...	OMIM:601709
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time	OMIM:188025
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus...	OMIM:614009
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:613501
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Forsythe-Wakeling Syndrome	Thrombocytopenia, Osteoporosis	OMIM:613606
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia	OMIM:615085
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Myelodysplasia, Splenomegaly	ORPHA:721
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Leukopenia, Thrombocytopenia	OMIM:614171
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Castleman Disease	Decreased mean corpuscular volume, Myelofibrosis, Follicular hyperplasia, Mediastinal lymphadenop...	ORPHA:160
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Hermansky-Pudlak Syndrome 5	Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ...	OMIM:614074
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Immunodeficiency 69	Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia	OMIM:618963
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I...	ORPHA:3226
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Erythroderma, Portal fibrosis, Coli...	ORPHA:3260
Pelger-Huet Anomaly	Recurrent otitis media, Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils...	OMIM:169400
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Von Willebrand Disease, Type 1	Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a...	OMIM:193400
Polycythemia Vera	Hepatomegaly, Myelofibrosis, Splenomegaly, Myelodysplasia, Portal hypertension, Acute leukemia	ORPHA:729
Hermansky-Pudlak Syndrome 6	Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis...	OMIM:614075
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope...	OMIM:617718
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto...	ORPHA:67044
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag...	OMIM:210250
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio...	OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Splenomegaly, Skin rash, Neutropenia, Anemia, Thrombocy...	OMIM:603552
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Multiple lipomas	ORPHA:529
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency 16	Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Bleeding Disorder, Platelet-Type, 12	Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag...	OMIM:605735
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Osteopetrosis, Autosomal Recessive 4	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos...	OMIM:611490
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Hepatomegaly, Abnormality of the liver	ORPHA:1980
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility...	ORPHA:274
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Storage Pool Platelet Disease	Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time	OMIM:185050
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Gamma-Heavy Chain Disease	Hepatomegaly, Abnormality of bone marrow cell morphology, Skin rash, Splenomegaly, Rheumatoid art...	ORPHA:100026
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot...	ORPHA:444463
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia, Chilblains	OMIM:610329
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Mu-Heavy Chain Disease	Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Osteoporosis, Abnormal B ...	ORPHA:100024
Non-Involuting Congenital Hemangioma	Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto...	ORPHA:141179
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly...	ORPHA:158057
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Mantle Cell Lymphoma	B-cell lymphoma, Lymphadenopathy, Abnormality of bone marrow cell morphology, Splenomegaly	ORPHA:52416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 104	Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid...	OMIM:608971
Progressive Familial Intrahepatic Cholestasis	Neoplasm, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality of t...	ORPHA:172
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Ar...	ORPHA:37748
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Bleeding Disorder, Platelet-Type, 11	Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time	OMIM:614201
Ghosal Hematodiaphyseal Dysplasia	Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly	ORPHA:1802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Hodgkin lymphoma, B-cell lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo...	OMIM:300853
Hermansky-Pudlak Syndrome 7	Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility	OMIM:614076
Blue Rubber Bleb Nevus	Microcytic anemia, Intestinal bleeding, Prolonged bleeding time	ORPHA:1059
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He...	ORPHA:848
Primary Myelofibrosis	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Hepatomegaly, Abnormality of bon...	ORPHA:824
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Osteopetrosis, Autosomal Recessive 2	Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Chronic rhini...	OMIM:259710
Hermansky-Pudlak Syndrome 11	Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g...	OMIM:619172
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Felty Syndrome	Sinusitis, Rhinitis, Hepatomegaly, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morpho...	ORPHA:47612
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Bleeding Disorder, Platelet-Type, 14	Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time	OMIM:614158
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Rapidly Involuting Congenital Hemangioma	Hemangioma, Perineal hemangioma, Hepatic hemangioma, Midfrontal capillary hemangioma, Thrombocyto...	ORPHA:141184
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo...	OMIM:613101
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Lymphoproliferative Syndrome 1	Hodgkin lymphoma, B-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk...	OMIM:613011
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome...	ORPHA:98850
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia...	OMIM:150550
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom...	ORPHA:86841
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosple...	OMIM:612840
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia	OMIM:607616
Factor V Deficiency	Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P...	OMIM:227400
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia, Ascites	ORPHA:295
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Lymphoproliferative Syndrome, X-Linked, 1	Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulmi...	OMIM:308240
Specific Granule Deficiency 2	Recurrent otitis media, Bone marrow maturation arrest, Osteopenia, Myelodysplasia, Recurrent pneu...	OMIM:617475
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Thrombocytopeni...	OMIM:608233
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Juvenile Arthritis	Thrombocytosis, Skin rash, Leukocytosis	OMIM:618795
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom...	OMIM:619220
Bone Marrow Failure Syndrome 4	Eczema, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:618116
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Wt Limb-Blood Syndrome	Hypoplastic anemia, Radioulnar synostosis, Joint contracture of the 5th finger, Pancytopenia, Thr...	OMIM:194350
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th...	OMIM:152700
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Thrombocytopenia, Joint laxity, Osteoporosis	OMIM:614727
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia, Glomerulonephritis	OMIM:615008
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Systemic Lupus Erythematosus 17	Optic neuritis, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Myelitis, Malar rash, Throm...	OMIM:301080
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Abnormality of bone marrow ...	ORPHA:98848
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Acne, Thrombocytosis, Micro...	OMIM:604416
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Tyrosinemia Type 1	Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Immunodeficiency 76	B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr...	OMIM:619164
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th...	OMIM:209950
Thrombocytopenia 1	Joint hemorrhage, Eczema, Congenital thrombocytopenia, Decreased mean platelet volume, Intermitte...	OMIM:313900
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia	OMIM:610333
Congenital Disorder Of Glycosylation, Type Iif	Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Neutropenia, Thrombocytopen...	OMIM:603585
Tularemia	Cutaneous abscess, Conjunctivitis, Leukocytosis, Otitis media, Skin rash, Cervical lymphadenopath...	ORPHA:3392
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A...	OMIM:300635
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Systemic Mastocytosis With Associated Hematologic Neoplasm	Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Bone marrow hypercellularity, Abno...	ORPHA:98849
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Leishmaniasis	Rhinitis, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Pancytopenia, A...	ORPHA:507
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Skin rash, Calv...	OMIM:612714
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Amed Syndrome, Digenic	Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid ...	OMIM:619151
Sickle Cell Anemia	Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o...	ORPHA:232
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Gaucher Disease, Type Iii	Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231000
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Hemangioma, Thrombocytopenia	OMIM:141000
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Eczema, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Ly...	OMIM:619802
Vexas Syndrome	Chondritis of pinna, Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Macrocyti...	OMIM:301054
Hermansky-Pudlak Syndrome 8	Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg...	OMIM:614077
Tufted Angioma	Megakaryocytopenia, Facial hemangioma, Neoplasm of the skin, Anemia, Thrombocytopenia, Hemangioma...	ORPHA:1063
Congenital Factor Ii Deficiency	Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P...	ORPHA:325
Thyrocerebrorenal Syndrome	Thrombocytopenia, Nephritis	ORPHA:3327
Nodular Lymphocyte Predominant Hodgkin Lymphoma	B-cell lymphoma, Abnormality of bone marrow cell morphology, Hepatomegaly, Breast carcinoma, Sple...	ORPHA:86893
Sea-Blue Histiocytosis	Blepharitis, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thr...	ORPHA:158029
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Recurrent pneumonia, Bronchie...	OMIM:616576
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hemangiomatosis, Anemia, Thrombocytopenia, Ascites, Visceral angiomatosis	ORPHA:2123
Neurofibromatosis-Noonan Syndrome	Abnormality of the lymphatic system, Prolonged bleeding time	ORPHA:638
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb...	OMIM:619375
Prothrombin Deficiency, Congenital	Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe...	OMIM:613679
Classic Mycosis Fungoides	Cutaneous T-cell lymphoma, Hepatomegaly, Abnormality of bone marrow cell morphology, Skin rash, S...	ORPHA:2584
Lymphoproliferative Syndrome 2	Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep...	OMIM:615122
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Chilblains, Flexion contracture	OMIM:612952
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoproliferative disorder, B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Lymphadenopath...	OMIM:614700
Babesiosis	Hepatomegaly, Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaundice, Limitation ...	ORPHA:108
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia, Internal hemorrhage, Gastrointestinal hemorrhage, Ascites, Prolo...	ORPHA:90308
Lathosterolosis	Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ...	OMIM:607330
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice	OMIM:613839
Immunodeficiency 62	Autoimmune thrombocytopenia	OMIM:618459
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Dysplastic granulopoesis, Abnormality of bone marrow cell morpho...	ORPHA:86839
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Hepatomegaly, Increased bone mineral density, Craniosynostosis, Splenomegaly, Oste...	OMIM:259700
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Myeloid maturation arrest, Splenomegaly	OMIM:619813
Stuve-Wiedemann Syndrome 2	Eczema, Thrombocytopenia, Camptodactyly	OMIM:619751
Alpha-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a...	ORPHA:846
Hemophilia B	Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania...	ORPHA:98879
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly	OMIM:619175
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Transient neutropenia	OMIM:607676
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Skin rash, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural k...	OMIM:616050
Osteopetrosis, Autosomal Dominant 3	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Anemia	OMIM:618107
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia	OMIM:230900
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Syndromic Diarrhea	Colitis, Lymphopenia, Gastritis, Hepatomegaly, Splenomegaly, Hepatoblastoma, Cirrhosis, Hypoplasi...	ORPHA:84064
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level...	ORPHA:169154
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Gaucher Disease Type 1	Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthriti...	ORPHA:77259
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
X-Linked Agammaglobulinemia	Sinusitis, Osteomyelitis, Neoplasm, Skin rash, Chronic otitis media, Abnormality of the lymphatic...	ORPHA:47
Cyclic Neutropenia	Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Ce...	ORPHA:2686
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane...	OMIM:603909
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym...	OMIM:615559
Immunodeficiency 64	B-cell lymphoma, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ...	OMIM:618534
Fetal Gaucher Disease	Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multip...	ORPHA:85212
Noonan Syndrome 12	Atopic dermatitis, Thrombocytopenia, Lymphopenia, Glabellar hemangioma	OMIM:618624
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Proteus Syndrome	Lymphangioma, Lipoma, Calvarial hyperostosis, Splenomegaly, Hemangioma, Multiple lipomas, Thin bo...	OMIM:176920
Intermediate Osteopetrosis	Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ...	ORPHA:210110
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells	OMIM:269840
Isovaleric Acidemia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Thyrocerebroretinal Syndrome	Thrombocytopenia, Nephritis	OMIM:274240
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis...	OMIM:615631
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Wiskott-Aldrich Syndrome	Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage...	ORPHA:906
Rhabdoid Tumor	Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt...	ORPHA:69077
Lig4 Syndrome	Myelodysplasia, Thrombocytopenia, Psoriasiform dermatitis, Pancytopenia	OMIM:606593
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy,...	OMIM:611762
Congenital Toxoplasmosis	Hepatomegaly, Ascites, Anemia, Thrombocytopenia, Jaundice, Cardiomegaly, Lymphadenopathy	ORPHA:858
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ...	OMIM:619463
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l...	ORPHA:210136
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Juvenile Temporal Arteritis	Allergic rhinitis, Eosinophilia, Conjunctivitis, Leukocytosis	ORPHA:26137
Dysplastic Cortical Hyperostosis	Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly	ORPHA:2204
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Skin rash, Myositis, Lym...	OMIM:617591
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Majeed Syndrome	Osteomyelitis, Inflammatory abnormality of the skin, Increased bone mineral density, Leukocytosis...	ORPHA:77297
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia, Camptodactyly	OMIM:616737
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Neonatal Lupus Erythematosus	Neutropenia, Hepatomegaly, Skin rash, Splenomegaly, Maculopapular exanthema, Aplastic anemia, Hem...	ORPHA:398124
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep...	OMIM:304790
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomegaly, Monocy...	OMIM:619644
Immune Thrombocytopenia	Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest...	ORPHA:3002
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Transaldolase Deficiency	Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:101028
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Macrophage Activation Syndrome	Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthritis, Hepatitis, Increased...	ORPHA:158061
Unclassified Myelodysplastic Syndrome	Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute...	ORPHA:98827
Autoerythrocyte Sensitization Syndrome	Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A...	ORPHA:324636
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Thrombocytopenia	OMIM:617021
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Immunodeficiency 102	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:301082
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Anemia, Ascites, Lymphadenopathy	ORPHA:100025
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:618852
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Wiskott-Aldrich Syndrome	Melena, Decreased mean platelet volume, Prolonged bleeding time, Abnormal delayed hypersensitivit...	OMIM:301000
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia	OMIM:619693
Gaucher Disease, Type I	Multiple myeloma, Hepatomegaly, Splenomegaly, Pathologic fracture, Pancytopenia, Anemia, Thromboc...	OMIM:230800
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Dyskeratosis Congenita, Autosomal Dominant 1	Lymphopenia, Cirrhosis, Interstitial pneumonitis, Aplastic anemia, Osteoporosis, Myelodysplasia, ...	OMIM:127550
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Increased bone mineral density	ORPHA:1237
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Bone marrow hypoce...	ORPHA:381
Classic Hodgkin Lymphoma	Neoplasm, Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Osteolysis, Bone marrow hypocellularit...	ORPHA:391
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r...	OMIM:618986
Trichohepatoenteric Syndrome 1	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Abnormality of the pancreas, Increased mean p...	OMIM:222470
Combined Immunodeficiency Due To Crac Channel Dysfunction	Neoplasm, Hepatomegaly, Splenomegaly, Chronic otitis media, Hemolytic anemia, Pneumonia, Thromboc...	ORPHA:169090
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Kaposi's sarcoma, Lymphadenopathy	OMIM:612783
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Iron deficiency anemia	OMIM:618372
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec...	OMIM:615513
Letterer-Siwe Disease	Seborrheic dermatitis, Hepatosplenomegaly, Stomatitis, Neutropenia, Anemia, Thrombocytopenia, Jau...	OMIM:246400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Petechiae, Persistent bleeding after trauma, Bruising susceptibi...	OMIM:300367
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Neonatal cholesta...	ORPHA:79301
Mixed Connective Tissue Disease	Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Hemolytic anemia, Purpura, G...	ORPHA:809
Braddock-Carey Syndrome 2	Megakaryocytopenia, Thrombocytopenia	OMIM:619981
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Anemia, Thrombocytopenia, Jaundice	ORPHA:290
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Hyperextensibility of the finger joints, Limitation of knee mobility,...	OMIM:228000
Cinca Syndrome	Leukocytosis, Skin rash, Eosinophilia, Hepatosplenomegaly, Arthritis, Uveitis, Anemia, Lymphadeno...	OMIM:607115
Wilson Disease	Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Arthritis, Pathologic ...	ORPHA:905
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hemangioma, Eczema, Joint laxity, Myelofibrosis	OMIM:607721
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatomegaly, Skin rash, Eosinophilia, Hepatosplenomegaly, Ly...	ORPHA:331206
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Eczema, Atrophic gastritis, Autoimmune ...	OMIM:616100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Limited pronation/supination of forearm, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar s...	OMIM:605432
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Lymphadenopathy, B lymphocytopenia, Increased CD4:CD8 ratio, Thrombocytopenia, Neutrop...	OMIM:618048
Familial Hemophagocytic Lymphohistiocytosis	Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Skin rash, Macu...	ORPHA:540
Propionic Acidemia	Pancreatitis, Hepatomegaly, Eczema, Osteoporosis, Pancytopenia, Neutropenia, Anemia, Thrombocytop...	OMIM:606054
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma	ORPHA:66661
Immunodeficiency, Common Variable, 2	Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Recurrent sinusitis, Recu...	OMIM:240500
Cinca Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp...	ORPHA:1451
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o...	ORPHA:231222
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia	OMIM:254900
Good Syndrome	Abnormal leukocyte morphology, Thymoma, Sinusitis, Recurrent skin infections, Mediastinal lymphad...	ORPHA:169105
Wolfram Syndrome 2	Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody...	OMIM:604928
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Neutropenia	OMIM:600351
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:54057
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombo...	ORPHA:572
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Immunodeficiency 92	Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen...	OMIM:619652
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia	OMIM:613987
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast...	OMIM:619824
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi...	OMIM:616689
Mgat2-Cdg	Decreased circulating IgG level, Abnormal bleeding, Impaired lymphocyte transformation with phyto...	ORPHA:79329
Acquired Purpura Fulminans	Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Thrombocytopenia, Prolonged prothr...	ORPHA:49566
Immunodeficiency 32B	Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly	OMIM:226990
Neonatal Severe Primary Hyperparathyroidism	Recurrent fractures, Hepatomegaly, Splenomegaly	ORPHA:417
Boutonneuse Fever	Skin rash, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Thrombocytopenia, Lymph...	ORPHA:83313
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisocytosis, Hepatos...	OMIM:616860
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Periostitis, Osteomyelitis, Hepatomegaly, Neutrophilia, Pustule, Splenomegaly, Skin rash, Osteope...	OMIM:612852
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flexion contracture, Abnormality of the lymphatic system, Camptodactyly, Increased mean platelet ...	ORPHA:487796
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Splenomegal...	ORPHA:167
Hodgkin Lymphoma	Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy	ORPHA:98293
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy...	ORPHA:79124
Blue Rubber Bleb Nevus	Hemangioma, Pathologic fracture, Iron deficiency anemia, Cerebellar medulloblastoma, Thrombocytop...	OMIM:112200
Drug-Induced Lupus Erythematosus	Pericarditis, Serositis, Malar rash, Anemia, Thrombocytopenia	ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Left ventricular hypertrophy, Camptodactyly, Anemia, Thrombocytopenia	OMIM:611209
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormalit...	ORPHA:1414
Preeclampsia	Abnormality of the hepatic vasculature, Thrombocytopenia	ORPHA:275555
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Bone marrow hypocellularity, Thrombocyto...	OMIM:613990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Inflammatory abnormality of th...	ORPHA:391487
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Hepatic fibrosis, Neutropenia, Bone marr...	OMIM:613989
Prolidase Deficiency	Hepatomegaly, Splenomegaly, Eczema, Recurrent pneumonia, Crusting erythematous dermatitis, Prolon...	OMIM:170100
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Omenn Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Lymphoma,...	ORPHA:39041
Acute Promyelocytic Leukemia	Bone marrow hypercellularity, Leukocytosis, Leukopenia, Pancytopenia, Stomatitis, Neutropenia, An...	ORPHA:520
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Hashimoto thyroiditis, Leukocytosis	ORPHA:83601
Glycosylphosphatidylinositol Biosynthesis Defect 1	Abnormality of bone marrow cell morphology, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Pseudo-Torch Syndrome 3	Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly	OMIM:618886
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Eczema, Ly...	OMIM:618935
Congenital Enterovirus Infection	Leukocytosis, Skin rash, Leukopenia, Myocarditis, Abnormal macrophage morphology, Cholestasis, He...	ORPHA:292
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Kaposiform Lymphangiomatosis	Papilloma, Lymphangioma, Splenomegaly, Fractures of the long bones, Hepatosplenomegaly, Abnormal ...	ORPHA:464329
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Relapsing Fever	Neutrophilia, Leukocytosis, Abnormal bleeding, Leukopenia, Epistaxis, Anemia, Thrombocytopenia, J...	ORPHA:91547
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:612126
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis	OMIM:618398
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Ascites, Cardiomegaly	OMIM:269920
Hereditary Folate Malabsorption	Megaloblastic anemia, Cheilitis, Eosinophilia, Pancytopenia, Thrombocytopenia	ORPHA:90045
Retinal Venous Beading	Neutropenia	OMIM:180080
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia	OMIM:613313
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Leukopenia, Throm...	OMIM:278000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ...	OMIM:235700
Zika Virus Disease	Skin rash, Maculopapular exanthema, Myelitis, Arthritis, Infectious encephalitis, Thrombocytopeni...	ORPHA:448237
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased...	OMIM:308230
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent otitis media, Autoimmun...	OMIM:618495
Chediak-Higashi Syndrome	Periodontitis, Recurrent bacterial skin infections, Hepatomegaly, Hemophagocytosis, Splenomegaly,...	OMIM:214500
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Hemophagocytic Syndrome Associated With An Infection	Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, A...	ORPHA:158048
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Hyper...	ORPHA:3261
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch...	OMIM:266200
Dengue Fever	Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Leukopenia, Gingival bleed...	ORPHA:99828
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedullary hematopo...	OMIM:259720
Transaldolase Deficiency	Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Hepatic fibros...	OMIM:606003
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly	OMIM:614480
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Myocarditis, Arthritis, Genera...	ORPHA:829
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, Eczema, B lymphocytopenia, Myelodysplasia, Megakaryocyte dysplasia, Neut...	ORPHA:508542
Stormorken Syndrome	Abnormal bleeding, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies	OMIM:185070
Shwachman-Diamond Syndrome 1	Exocrine pancreatic insufficiency, Hepatomegaly, Persistence of hemoglobin F, Pancytopenia, Myelo...	OMIM:260400
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Ulcerative colitis, Pancytopeni...	OMIM:618394
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Fetal And Neonatal Alloimmune Thrombocytopenia	Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha...	ORPHA:853
Sialidosis Type 2	Hepatomegaly, Abnormality of bone marrow cell morphology, Flexion contracture, Splenomegaly, Oste...	ORPHA:87876
Acute Monoblastic/Monocytic Leukemia	Bone marrow hypercellularity, Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic le...	ORPHA:514
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Eczema, Aplastic anemia, Macrocytic ...	ORPHA:811
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Hemophagocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Leukopenia, Infectio...	OMIM:603553
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Neoplasm, Bone marrow hypocellularity, Anemia, Thrombocytopenia	ORPHA:3322
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia	ORPHA:163596
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Pancreatitis, Hepatomegaly, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Thrombocytopenia	OMIM:251000
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome

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Gene: Nbeal2 MGI:2448554

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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Human diseases caused by Nbeal2 mutations