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Gene: Selplg MGI:106689

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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:
selectin, platelet (p-selectin) ligand
Synonyms:
CD162,  Psgl1,  Psgl-1

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 Selplg mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Immunodeficiency 88
Eosinophilia OMIM:619630
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Pseudo-Von Willebrand Disease
Prolonged bleeding time OMIM:177820
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ... OMIM:614201
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... OMIM:603909
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased pr... ORPHA:169160
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Subarachnoid hemorrhage, Increased circulating IgE level, Increased circulating IgG... OMIM:243700
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level, B lymphocytop... OMIM:602450
Cinca Syndrome
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly OMIM:607115
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs... OMIM:301000
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Roifman Syndrome
Hepatosplenomegaly, Decreased T cell activation, Eosinophilia, Decreased circulating antibody level ORPHA:353298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Eosinophilic Gastroenteritis
Hematochezia, Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemi... ORPHA:75564
Refractory Anemia
Abnormal bleeding, Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythro... ORPHA:98826
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgE level, Increased circulating antibody level, Increas... ORPHA:449400
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia, Purpura ORPHA:293173
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Essential Thrombocythemia
Splenomegaly, Prolonged bleeding time, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... OMIM:608233
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Aspergillosis
Intracranial hemorrhage, Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Decreased circulating antibody level OMIM:617425
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgE level, Hypochromic microcytic anemia, ... OMIM:619632
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Immunodeficiency 67
Liver abscess, Transient neutropenia, Increased circulating IgE level OMIM:607676
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia ORPHA:90308
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hyp... ORPHA:88
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... OMIM:612840
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... ORPHA:809
Relapsing Fever
Abnormal bleeding, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Prolonged... ORPHA:91547
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Eosinophilia, Purpura ORPHA:183
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... ORPHA:520
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocellularity, Hemoph... OMIM:301078
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Mucoepithelial Dysplasia, Hereditary
Melena, Eosinophilia OMIM:158310
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellula... ORPHA:101096
Refractory Anemia With Excess Blasts
Abnormal bleeding, Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Int... ORPHA:3260
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... ORPHA:2968
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Thrombocytopenia, ... ORPHA:824
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatos... ORPHA:98850
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal hemorrhage OMIM:308300
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia ORPHA:199299
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Thrombocytopenia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosp... OMIM:274000
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Abnormality of chemokine secretion, Abnormalit... ORPHA:544482
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Incontinentia Pigmenti
Eosinophilia, Retinal hemorrhage ORPHA:464
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... ORPHA:335
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphocytosis, Myeloproliferative disorder ORPHA:79456
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... ORPHA:99147
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia, Pulmonary hemo... OMIM:619644
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... ORPHA:2330
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Le... ORPHA:64743
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... OMIM:300908
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Hepatosplenom... OMIM:603553
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia, Bone marrow hypocellularity ORPHA:829
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, In... OMIM:260920
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia OMIM:616271
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytosis, Thromboc... OMIM:617718
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Cushing Disease
Lymphopenia, Leukocytosis, Decreased eosinophil count, Ecchymosis, Bruising susceptibility, Purpura ORPHA:96253
Hereditary Chronic Pancreatitis
Leukocytosis ORPHA:676
Shwachman-Diamond Syndrome 2
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia OMIM:617941
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, Decreased ... OMIM:212750
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Pr... ORPHA:171
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Yellow Fever
Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos... ORPHA:99829
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Viss Syndrome
Epidural hemorrhage, Increased circulating IgE level, Hypereosinophilia, Increased circulating Ig... OMIM:619472
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
3-Hydroxy-3-Methylglutaric Aciduria
Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia ORPHA:20
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Leukopenia, Ecchymosis, Internal hemorrhage, Neutrophilia, Leuko... ORPHA:99827
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess OMIM:612852
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Marburg Hemorrhagic Fever
Abnormal bleeding, Reticulocytosis, Lymphopenia, Excessive bleeding after a venipuncture, Thrombo... ORPHA:99826
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Tropical Endomyocardial Fibrosis
Splenomegaly, Eosinophilia ORPHA:75565
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... OMIM:212065
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time OMIM:618280
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Cushing Syndrome Due To Ectopic Acth Secretion
Lymphopenia, Leukocytosis, Decreased eosinophil count, Ecchymosis, Bruising susceptibility, Purpura ORPHA:99889
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod... ORPHA:247598
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia OMIM:276700
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... OMIM:619525
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia OMIM:619991
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time ORPHA:404454

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 Selplg

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 Selplg.

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

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MGI Allele Allele Type Produced
Selplgtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Selplgtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Selplgtm173120(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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