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Gene: Unc13d MGI:1917700

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
unc-13 homolog D
Synonyms:
Jinx,  2610108D09Rik,  Munc13-4

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Unc13d mutations

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

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

The table below shows human diseases associated to Unc13d by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... ORPHA:540

The table below shows human diseases predicted to be associated to Unc13d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... OMIM:614470
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:613101
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Immunodeficiency 15B
Decreased circulating antibody level, Recurrent infections, Monocytosis, Agammaglobulinemia, Decr... OMIM:615592
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent bacterial men... OMIM:300400
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Immunodeficiency 24
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Recurrent viral infections, Severe vari... OMIM:615897
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Recu... ORPHA:2688
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:155100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis ... OMIM:301078
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Spl... OMIM:226990
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, T lymphocy... OMIM:618986
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... OMIM:601399
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Recurrent herpes, Complete o... OMIM:607271
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... ORPHA:540
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, BCGosis, Recurrent pneumonia, Severe viral infection, Lymphadenopathy... OMIM:619644
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa... OMIM:308230
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... OMIM:153670
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... OMIM:607594
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Lymphadenopathy, Dec... OMIM:618261
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinoph... ORPHA:486
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... ORPHA:100024
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... ORPHA:238459
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Epistaxis, Increased mean platelet volume, Reduced platelet alpha granul... OMIM:314050
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... OMIM:615122
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... OMIM:231095
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio... OMIM:613502
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... OMIM:618495
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Hepatosplenomegaly, Increased propo... OMIM:618982
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... OMIM:607624
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Recurrent opportunistic infections, Recurrent upper respir... ORPHA:277
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Immunodeficiency 21
Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal infections, Recu... OMIM:614172
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr... OMIM:605258
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Absence of lymph node germin... OMIM:608184
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... OMIM:603553
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent i... OMIM:616576
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Abnormal natural kill... ORPHA:79124
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Ab... OMIM:301000
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia ORPHA:3319
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Lymphadenop... ORPHA:397596
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infectio... OMIM:612541
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgA level, Abnormal ci... OMIM:618048
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Hepa... OMIM:300635
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp... OMIM:620210
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Increa... ORPHA:37748
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Thrombocytope... ORPHA:47612
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... ORPHA:33355
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... OMIM:613179
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Acute Panmyelosis With Myelofibrosis
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec... OMIM:602450
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thromb... ORPHA:911
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop... OMIM:619164
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... OMIM:229050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Severe infection, Increased circulat... OMIM:304790
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Recurrent infections ORPHA:1195
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial i... ORPHA:158048
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormality of the tonsi... ORPHA:229717
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Recurrent bacterial infections, Increase... OMIM:608106
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, ... ORPHA:169160
Immunodeficiency 22
Decreased circulating IgG level, Abscess, Recurrent upper respiratory tract infections, Anemia, D... OMIM:615758
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve... OMIM:300291
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level... ORPHA:98813
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Idiopathic Aplastic Anemia
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Bone marrow hypocellular... ORPHA:88
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... OMIM:603554
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent b... OMIM:617475
Immunodeficiency 40
Hepatomegaly, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T l... OMIM:616433
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis fa... ORPHA:158061
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Hereditary Folate Malabsorption
Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,... ORPHA:90045
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Recurrent infectio... ORPHA:108
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, O... ORPHA:83471
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly, Recurrent respiratory infections ORPHA:139406
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Recurrent infections, Increased circulating ... OMIM:617591
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... OMIM:214500
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Intermediate Osteopetrosis
Cortical sclerosis, Chronic infection, Generalized osteosclerosis, Thrombocytopenia, Hepatospleno... ORPHA:210110
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Splenomegaly, Anemia, Osteopetrosi... OMIM:611490
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... ORPHA:169090
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulat... OMIM:170100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... ORPHA:35078
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... OMIM:619375
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... OMIM:612783
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent infections, Anemia, Leukope... OMIM:620184
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella zoster inf... ORPHA:331235
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia ORPHA:295
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Recur... OMIM:619463
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating IgG level, Decreased circulating total Ig... ORPHA:2643
Castleman Disease
Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab... ORPHA:160
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Sepsis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... ORPHA:83313
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Chronic infection, Leukocytosis, Abnorma... ORPHA:86839
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Recurrent infection... OMIM:300972
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Cirrhosis, Thrombo... OMIM:613987
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Cholangitis, Persistent CMV viremia, Leukocytosis, BCGosis, ... OMIM:619652
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen... OMIM:610377
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... OMIM:601495
Malaria
Anemia, Thrombocytopenia ORPHA:673
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Bone marrow h... ORPHA:210136
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Sitosterolemia 1
Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:619752
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphad... OMIM:260920
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:306400
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent broncho... OMIM:617303
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphad... OMIM:609981
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Recurrent infections, Decreased circulating antibody level, Iron deficiency anemia,... OMIM:226300
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly ORPHA:101028
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Osteoporosis, Thrombocytopenia OMIM:614727
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Cog4-Cdg
Neonatal sepsis, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Cirrhosis, Rec... ORPHA:263501
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Peritoneal effusion, Cryptococcal meningitis, Abnormal lymphatic... ORPHA:90362
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morpho... OMIM:242900
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Splenomegaly, Ly... ORPHA:1572
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari... OMIM:614742
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Sepsis, Leukopenia, Increased circulating antibody level, Lymphope... ORPHA:319218
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Recurrent ph... ORPHA:829
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... ORPHA:324636
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Meningitis, Anemia OMIM:607115
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine... ORPHA:172
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function ORPHA:30
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Neonatal Lupus Erythematosus
Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:398124
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Menin... ORPHA:545
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Recurrent respiratory infections, Spl... ORPHA:77261
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Preeclampsia
Thrombocytopenia, Helicobacter pylori infection, Abnormality of the hepatic vasculature ORPHA:275555
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased c... OMIM:612301
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections... ORPHA:811
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Follicular hyperplasia, Increased circulating IgA level, Paratr... OMIM:615934
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Auto... ORPHA:391487
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... ORPHA:292
Acute Promyelocytic Leukemia
Pancytopenia, Chronic infection, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neu... ORPHA:520
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 31C
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune ... OMIM:614162
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Thrombocytopenia, Ascites, Anemia ORPHA:2123
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Infectious encephalitis ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Meni... OMIM:267700
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... ORPHA:1451
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve... ORPHA:2268
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Recurrent infections,... ORPHA:1830
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent... OMIM:605309
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S... OMIM:259700
Zika Virus Disease
Meningitis, Infectious encephalitis, Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly, Recurrent respiratory infections ORPHA:77260
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Mgat2-Cdg
Abnormal bleeding, Decreased circulating IgG level, Impaired platelet aggregation, Decreased circ... ORPHA:79329
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Beta-Thalassemia Intermedia
Osteopenia, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inad... ORPHA:231222
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukopenia, B ... ORPHA:508542
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Q Fever
Hepatomegaly, Unusual infection, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, L... ORPHA:781
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Disseminated vi... ORPHA:90051
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul... OMIM:613989
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Re... OMIM:617052
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Lymphadenopathy, Abnormal lymphoc... ORPHA:39041
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Recurrent staphylococcal infect... OMIM:615816
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Osteoporosis, Biliary tract abnormality, Cirrhosis, Neonata... ORPHA:79301
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myelofibrosis, Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Recurrent infections, Persi... OMIM:260400
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Pneumocystosis
Chronic oral candidiasis, Pneumocystis jirovecii pneumonia, Increased circulating antibody level,... ORPHA:723
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Abnormality of the pancreas, Reduced bone mineral density, Agam... ORPHA:935
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... OMIM:612714
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Propionic Acidemia
Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:606054
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphadenopathy, R... OMIM:617718
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Hematemesis, Thrombocyto... ORPHA:906
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Mirage Syndrome
Recurrent urinary tract infections, Radial club hand, Thrombocytopenia, Sepsis, Leukopenia, Recur... OMIM:617053
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor... OMIM:127550
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Recurrent upper respiratory tract infections, Anemia OMIM:620296
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytop... ORPHA:3260
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombo... OMIM:259720
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Hepatosplenom... OMIM:606003
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Wilson Disease
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, He... ORPHA:905
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura ORPHA:809
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Recurrent infections, Anemia, Neutropenia OMIM:617056
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,... OMIM:620005
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... OMIM:615688
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia ORPHA:3322
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... ORPHA:729
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Sengers Syndrome
Osteopenia, Thrombocytopenia OMIM:212350
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased c... ORPHA:79330
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Kaposiform Lymphangiomatosis
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Osteolysis... ORPHA:464329
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Recurrent infections, Anemia, Neutropenia, Thro... OMIM:277380
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha... OMIM:228000
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Recurrent infections, Neutropenia, Hyperechogenic pancreas, Thro... OMIM:617941
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto... OMIM:613990
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Gingival bleeding, Bruising s... ORPHA:335
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Necrotizing Enterocolitis
Neonatal sepsis, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia ORPHA:391673
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent bronchitis, Dysgammagl... OMIM:251260
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Spleno... ORPHA:379
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Recur... ORPHA:33226
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Throm... OMIM:224230
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Alg12-Cdg
Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating IgA level, Parti... ORPHA:79324
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating... ORPHA:29073
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Increased circu... ORPHA:505248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... ORPHA:37042
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Whim Syndrome
Lymphadenitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnorma... ORPHA:51636
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Legionnaires Disease
Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis, Sepsis, Lymphadenopathy, Bone marrow hy... ORPHA:549
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:251000
Rift Valley Fever
Jaundice, Severe viral infection, Hepatitis, Anemia, Increased circulating IgG level, Increased c... ORPHA:319251
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... ORPHA:3243
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Impaired T cell function, Recurrent candida infections OMIM:201100
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... OMIM:615846
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomalacia, Follicular hyperplasia, Splenomegaly, Hepati... OMIM:619381
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:1304
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Thrombocytopenia OMIM:230900
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Recurrent upper respiratory tr... ORPHA:333
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cholestasis, Anemia, Ascites, Thrombocytopenia OMIM:608104
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega... ORPHA:50918
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis OMIM:612852
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Pediatric-Onset Graves Disease
Hepatomegaly, Craniosynostosis, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil... ORPHA:525731
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, M... ORPHA:99843
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Abscess, Severe varicella zoster infection, Peritonitis, Seve... ORPHA:36234
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... OMIM:620040
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Decreased circulati... ORPHA:470
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Abnormality of neutroph... ORPHA:1775
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Dense cal... OMIM:252920
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocyt... OMIM:616271
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro... OMIM:227645
Avian Influenza
Meningitis, Sepsis, Hepatitis, Leukopenia, Lymphopenia, Infectious encephalitis, Thrombocytopenia ORPHA:454836
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosi... ORPHA:2137
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... OMIM:211600
Dengue Fever
Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly ORPHA:99828
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Leukocytosis, Unusual CNS infection, Leukopenia, Increased c... ORPHA:297
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto... ORPHA:93552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Recurrent ... OMIM:615895
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Congenital hypoplastic anemia, Splenomegaly, Leukoc... ORPHA:77297
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Recurrent infections, Anemia, Left ventricular hypertrophy, Thromboc... OMIM:611209
Lig4 Syndrome
Acute lymphoblastic leukemia, Recurrent respiratory infections, Pancytopenia, Thrombocytopenia OMIM:606593
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Osteoporosis, Recurrent infections, ... OMIM:613327
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Pseudo-Torch Syndrome 1
Splenomegaly, Hepatomegaly, Jaundice, Thrombocytopenia OMIM:251290
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... ORPHA:99147
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis,... ORPHA:79277
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thr... OMIM:222700
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:603467
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, El... ORPHA:300298
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Shigellosis
Abscess, Leukocytosis, Peritonitis, Sepsis, Cholestasis, Microangiopathic hemolytic anemia, Splen... ORPHA:810
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Recon Progeroid Syndrome
Thrombocytopenia, Anemia, Recurrent infections OMIM:620370
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... OMIM:274150
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti... ORPHA:289390
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenom... ORPHA:355
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Hepato... ORPHA:171
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Ascites, Anemia OMIM:608013
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Alg8-Cdg
Thrombocytopenia, Ascites, Anemia ORPHA:79325
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Osteoporosis, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:612199
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, T... OMIM:263700
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Recurrent infections, Abnormality of ... ORPHA:84064
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno... ORPHA:264580
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic... ORPHA:464343
Aicardi-Goutieres Syndrome 1
Splenomegaly, Hepatomegaly, Thrombocytopenia, Prolonged neonatal jaundice OMIM:225750
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Overlap Myositis
Leukopenia, Severe infection, Thrombocytopenia ORPHA:206572
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Leukocytosis,... ORPHA:544482
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Neutropenia OMIM:617050
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Yellow Fever
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Jaundice, Le... ORPHA:99829
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Leukocytosis, Severe infection, Sepsis, Leukopenia ORPHA:36238
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Craniosynostosis, Hepatomegaly OMIM:301056
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, Recurrent infections, Hepatic f... ORPHA:79240
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Leukemia, Neutropenia, Annu... OMIM:227646
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Rickets, Ac... OMIM:607765
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Recurren... OMIM:232220
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function ORPHA:648
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Sepsis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Stevens-Johnson Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Sepsis, Pancreati... ORPHA:36426
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia OMIM:258360
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Jaundice, Cholestatic liver di... OMIM:208085
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Pseudo-Torch Syndrome 2
Hepatomegaly, Ascites, Thrombocytopenia OMIM:617397
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, ... ORPHA:2785
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Hennekam Syndrome
Recurrent respiratory infections, Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia, Lym... ORPHA:2136
Marburg Hemorrhagic Fever
Reticulocytosis, Jaundice, Severe infection, Neutrophilia in presence of infection, Lymphadenopat... ORPHA:99826
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Recurrent urinary tract infections, Cholangitis, Portal hypertension, Biliary... ORPHA:731
Leukocyte Adhesion Deficiency
Abnormal bleeding, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired ne... ORPHA:2968
Wilson Disease
Hemolytic anemia, Hepatomegaly, Osteomalacia, Thrombocytopenia, Atypical or prolonged hepatitis, ... OMIM:277900
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy... ORPHA:567983
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Sepsis, Abnormal circulating interleukin conce... ORPHA:70578
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia ORPHA:974
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Sepsis, Abnormality of ser... ORPHA:178320
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic... ORPHA:99827
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Thrombocytopenia OMIM:611126
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Malt Lymphoma
Mediastinal lymphadenopathy, Recurrent respiratory infections, Anemia, Lymphadenopathy ORPHA:52417
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Thrombocytopenia, Anemia ORPHA:261323
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Lujo Hemorrhagic Fever
Leukocytosis, Fulminant hepatitis, Severe viral infection, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319213
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... ORPHA:79078
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Portal hypertension, Pancreatic cysts, Splen... OMIM:610199
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Sepsis, Macronodu... OMIM:619418
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Recurrent infections OMIM:616737
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Increased circulating IgA level, Enlarged polycystic ovaries, Biliary cirrhosis... ORPHA:2298
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... ORPHA:90038
Hardikar Syndrome
Hepatomegaly, Intrahepatic bile duct cysts, Recurrent urinary tract infections, Cholangitis, Port... OMIM:301068
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating a... OMIM:274000
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Thrombocytopenia, Anemia OMIM:619743
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Increased hepatic ... OMIM:619525
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... OMIM:181000
Dubowitz Syndrome
Abnormality of neutrophils, Craniosynostosis, Recurrent infections, Acute lymphoblastic leukemia,... ORPHA:235
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Meningitis OMIM:249100
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Digeorge Syndrome
Impaired T cell function, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Recurrent infectio... OMIM:188400
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Defective production of NFKB1-depen... OMIM:612132
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... ORPHA:647
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Thrombocytopenia OMIM:612394
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... ORPHA:77293
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Sialuria
Prolonged prothrombin time ORPHA:3166
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Thromb... ORPHA:46059
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari... OMIM:305000
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia OMIM:301072
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Craniosynostosis, Splenomegaly, Lymphadenopathy, ... ORPHA:667
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving bones of the lowe... ORPHA:464321
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Sepsis, Thrombocytopenia ORPHA:94093
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Elevated hepatic iron conce... OMIM:619991
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Leukocytosis, Severe infection, Anemia, Thromb... ORPHA:340
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Osteoporosis, Os... ORPHA:95159
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Fibular Hemimelia
Thrombocytopenia, Craniosynostosis, Abnormal bone ossification ORPHA:93323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume, Recurrent ... ORPHA:487796
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... ORPHA:797
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly OMIM:619005
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepa... ORPHA:2072
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Jacobsen Syndrome
Recurrent respiratory infections, Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia ORPHA:2308
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Abnormality of thrombocytes, Impaired T cell function, Splenomegaly, ... ORPHA:567
Jacobsen Syndrome
Recurrent respiratory infections, Annular pancreas, Thrombocytopenia OMIM:147791
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Reduced bone mine... ORPHA:84
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgA level OMIM:212750
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis OMIM:607721
Ogden Syndrome
Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Recurrent infections,... OMIM:300855
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia, Exocrine pancreatic insufficiency, Hepatome... OMIM:619004
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... OMIM:212065
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thrombocytopenia, Anemia ORPHA:163979
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Meningitis, Thrombocytopenia ORPHA:509
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi... ORPHA:51
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Cornelia De Lange Syndrome 1
Duplication of internal organs, Thrombocytopenia OMIM:122470
Oculocerebrorenal Syndrome Of Lowe
Anemia, Recurrent respiratory infections, Osteomalacia, Thrombocytopenia ORPHA:534
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time ORPHA:20
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Roberts Syndrome
Thrombocytopenia, Craniosynostosis ORPHA:3103
Osteogenesis Imperfecta
Osteopenia, Osteoporosis, Decreased skull ossification, Abnormal cortical bone morphology, Thromb... ORPHA:666
Tyrosinemia, Type I
Melena, Prolonged prothrombin time, Gastrointestinal hemorrhage OMIM:276700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Decreased circulating... ORPHA:247598
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Acute Liver Failure
Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hepatic periportal necrosis, Thro... ORPHA:90062
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia OMIM:163950

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 Unc13d

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 Unc13d.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Platelet glycoprotein VI promotes metastasis through interaction with cancer cell-derived galectin-3. Blood (April 2020) Unc13dtm1(KOMP)Vlcg 32040544
Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases. Scientific reports (June 2019) Unc13dtm1(KOMP)Vlcg PMC6554314
Platelet secretion is crucial to prevent bleeding in the ischemic brain but not in the inflamed skin or lung in mice. Blood (January 2017) Unc13dtm1(KOMP)Vlcg 28077416
Inhibition of Platelet GPVI Protects Against Myocardial Ischemia-Reperfusion Injury. Arteriosclerosis, thrombosis, and vascular biology (February 2016) Unc13dtm1(KOMP)Vlcg 26916731
Partially Defective Store Operated Calcium Entry and Hem(ITAM) Signaling in Platelets of Serotonin Transporter Deficient Mice. PloS one (January 2016) Unc13dtm1(KOMP)Vlcg PMC4723080
Podoplanin and CLEC-2 drive cerebrovascular patterning and integrity during development. Blood (April 2015) Unc13dtm1(KOMP)Vlcg PMC4463737
Munc13-4-mediated secretion is essential for infarct progression but not intracranial hemostasis in acute stroke. Journal of thrombosis and haemostasis : JTH (July 2013) Unc13dtm1(KOMP)Vlcg 23659589

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Unc13dtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Unc13dtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Unc13dtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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