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Gene: Cd40lg MGI:88337

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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:
CD40 ligand
Synonyms:
Tnfsf5,  Cd40L,  IMD3,  CD154,  HIGM1,  Ly-62,  T-BAM,  gp39

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 Cd40lg 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 Cd40lg by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230

The table below shows human diseases predicted to be associated to Cd40lg by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
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
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:605258
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... OMIM:300400
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 102
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... OMIM:301082
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
Osteoporosis
Osteoporosis OMIM:166710
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, ... ORPHA:276
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c... OMIM:615513
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immune Thrombocytopenia
Platelet antibody positive, Thrombocytopenia OMIM:188030
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
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
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased circulating Ig... OMIM:616005
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level... ORPHA:98813
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function ORPHA:231393
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly OMIM:269840
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulating antibody level, D... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Wide anterior fontanel, Decreased proportion of CD8-positive T cells, Increased circulating IgE l... OMIM:617241
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Generalized bone demineralization, Macronodular cirrhosis, Decreased ... OMIM:215250
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... OMIM:601399
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased... OMIM:614878
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... OMIM:153670
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis ORPHA:53697
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, Decreased circulating total ... OMIM:300755
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ... OMIM:613101
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Epistaxis, Increased mean platelet volume, Reduced platelet alpha granul... OMIM:314050
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... ORPHA:238459
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco... OMIM:608184
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel... ORPHA:90362
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia, Decreased circulating antibody level OMIM:616740
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:603909
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
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, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Decreased circulating tota... OMIM:620210
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Lymphad... OMIM:618048
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... ORPHA:397596
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Xq28 (MECP2) duplication
Decreased circulating IgA level DECIPHER:45
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Increased circulating IgG level,... OMIM:209950
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Mastocytosis ORPHA:66661
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Craniosynostosis OMIM:618523
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Immunodeficiency 81
Reduced natural killer cell activity, Reduced antigen-specific T cell proliferation, Impaired neu... OMIM:619374
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Eosinophilia, Craniosynostosis, Increased circulating IgE level, Cutaneous abscess OMIM:147060
Eosinophilopenia
Decreased eosinophil count, Autoimmunity OMIM:131430
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
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
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Decreased circulating total IgM,... OMIM:612301
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,... OMIM:300972
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM OMIM:615139
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Smith-Kingsmore Syndrome
Wide anterior fontanel, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Myeloma, Multiple
Paraproteinemia OMIM:254500
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Simplified gyral pattern OMIM:619072
Immunodeficiency, Common Variable, 6
Hepatomegaly, Autoimmune thrombocytopenia, Chronic decreased circulating total IgG, Complete or n... OMIM:613496
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610951
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Diaminopentanuria
Neurodegeneration OMIM:222350
Tubulinopathy-Associated Dysgyria
Pachygyria, Abnormal thalamus morphology, Agyria, Dysgyria ORPHA:467166
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Coasy Protein-Associated Neurodegeneration
Abnormal thalamus morphology ORPHA:397725
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset di... ORPHA:221139
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Ab... ORPHA:572
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level OMIM:616576
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level ORPHA:1296
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... ORPHA:507
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease... OMIM:613385
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level ORPHA:99811
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Decreased thalamic volume OMIM:613668
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increased circulating IgE level, Hep... OMIM:304790
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Increased circulating... ORPHA:83313
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification OMIM:618824
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Roifman Syndrome
Eosinophilia, Delayed proximal femoral epiphyseal ossification, Hepatosplenomegaly, Decreased cir... ORPHA:353298
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell... OMIM:620044
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Maternal Uniparental Disomy Of Chromosome 1
Epiphyseal stippling, Pancytopenia, Panhypogammaglobulinemia, Hepatomegaly ORPHA:251009
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level ORPHA:100
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Decreased circu... OMIM:212750
Basal Ganglia Calcification, Idiopathic, 5
Thalamic calcification OMIM:615483
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Craniosynostosis, Portal hypertension, T... OMIM:620005
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... OMIM:601495
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level OMIM:619750
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatic steatosis, Decreased circulating Ig... OMIM:613327
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Thalamic calcification OMIM:618317
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Leukoencephalopathy With Dystonia And Motor Neuropathy
Focal T2 hyperintense thalamic lesion OMIM:613724
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Recurrent tonsilli... ORPHA:125
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion OMIM:619057
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level ORPHA:343
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy... ORPHA:90045
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Decreased ... ORPHA:169105
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo... OMIM:209920
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Viral hepatitis, Liver abscess, Cholangitis, Recurrent tonsillitis, Decreased circulating total I... ORPHA:183675
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Intracranial hemorrhage, Bone marrow hypocellularity, Bruising susceptib... ORPHA:3226
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De... ORPHA:420741
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... ORPHA:540
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus OMIM:618193
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Immunodeficiency 12
Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3, Osteoporos... OMIM:615468
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Alexander Disease Type I
Abnormal thalamic MRI signal intensity ORPHA:363717
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Follicular hyperplasia, Paratracheal lymphadenopathy, Increased ... OMIM:615934
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... ORPHA:543
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Antinuclear antibody ... OMIM:619375
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Decreased circulating total IgG, Osteomalacia, Follicular ... OMIM:619381
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:166277
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepa... OMIM:212065
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Lateral ventricle dilatation, Neurodegeneration OMIM:615889
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... OMIM:260920
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis OMIM:616871
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Decreased circulating antibody level OMIM:605309
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Pyle Disease
Limited elbow extension, Thin bony cortex, Reduced bone mineral density OMIM:265900
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Spinocerebellar Ataxia With Epilepsy
Focal T2 hyperintense thalamic lesion ORPHA:254881
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... ORPHA:47
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... OMIM:614034
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Osteoporosis ORPHA:3409
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Panhypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95513
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Adenohypophysitis
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... ORPHA:95512
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Reduced bone mineral density, Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Oculoskeletodental Syndrome
Abnormal thalamus morphology ORPHA:557003
Sitosterolemia 1
Abnormal bleeding, Giant platelets, Impaired platelet aggregation, Thrombocytopenia OMIM:210250
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Thrombocytosis, Intes... OMIM:226300
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Increased circulating antibody lev... OMIM:617591
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... ORPHA:2635
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami OMIM:617542
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulating antibody level... ORPHA:1572
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Autosomal Agammaglobulinemia
Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity ORPHA:98827
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, ... ORPHA:158061
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Increased circulating IgE level, Eosinophilia, Craniosynostosis ORPHA:2314
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Delayed ossification of carpal bones, Lymphop... OMIM:617425
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Cerebellar atrophy, Neurodegeneration ORPHA:438134
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density OMIM:619795
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Simplified gyral pattern, Lissencephaly, Polymicrogyria, Abnormal thalamus morphology, Type II li... ORPHA:300570
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormal thalamus morphology ORPHA:404440
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... OMIM:608233
Cach Syndrome
T2 hypointense thalamus, Dysgyria ORPHA:135
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte physiology, Abnormal lymphocyte proli... ORPHA:99867
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus ORPHA:1947
Immunodeficiency 56
Panhypogammaglobulinemia, Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection OMIM:615207
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope... OMIM:603585
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology ORPHA:88619
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Decreased circulating total IgM, Craniosynostosis, Decreased circulating IgA level ORPHA:369837
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Neurodegeneration With Brain Iron Accumulation 2A
Cerebellar atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervou... OMIM:256600
3P25.3 Microdeletion Syndrome
Abnormal thalamus morphology ORPHA:435638
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Congenital Muscular Dystrophy With Cerebellar Involvement
Gray matter heterotopia, Polymicrogyria, Decreased thalamic volume, Type II lissencephaly ORPHA:370959
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Recurrent pneumonia, Gliosis, Neurodegeneration, Br... OMIM:214150
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Cranial hyperostosis, Abnormal ... ORPHA:330015
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morpho... OMIM:242900
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy OMIM:617672
New-Onset Refractory Status Epilepticus
Abnormal thalamic MRI signal intensity ORPHA:363558
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-positive T cells, Increa... ORPHA:508533
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion ORPHA:79264
Ck Syndrome
Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraprotei... ORPHA:91139
Immunodeficiency 54
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Mgat2-Cdg
Abnormal bleeding, Decreased circulating IgG level, Impaired platelet aggregation, Decreased circ... ORPHA:79329
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Japanese Encephalitis
Abnormal thalamus morphology, Increased circulating IgM level, Focal T2 hyperintense thalamic les... ORPHA:79139
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem OMIM:612319
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o... ORPHA:400
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion OMIM:619046
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Panhypogammaglobulinemia, Absent circulating B cells OMIM:307200
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreas... ORPHA:227990
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity ORPHA:444013
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Increase... ORPHA:2137
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen... OMIM:610377
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Hematemesis, Thrombocyto... ORPHA:906
Neurodegeneration With Brain Iron Accumulation 6
Neurodegeneration OMIM:615643
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy ORPHA:26790
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormal thalamus morphology ORPHA:2959
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,... OMIM:603553
Leptin Receptor Deficiency
Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ... OMIM:614963
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility ORPHA:1486
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous system, Agenesis... OMIM:616239
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Decreas... ORPHA:227982
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Jaundice, Osteoporosis, Biliary cirrhosis, ... ORPHA:186
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... ORPHA:324636
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Sandhoff Disease, Infantile Form
Abnormal thalamic MRI signal intensity ORPHA:309155
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... ORPHA:2686
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level OMIM:248500
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Felty Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura ORPHA:809
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity ORPHA:157846
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Krabbe Disease
Diffuse cerebral atrophy, Neurodegeneration, Autoimmune thrombocytopenia OMIM:245200
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Hepatosplenomegaly, ... OMIM:615688
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Combined Oxidative Phosphorylation Defect Type 7
Abnormal thalamic MRI signal intensity ORPHA:254930
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Whim Syndrome
Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,... ORPHA:51636
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp... ORPHA:160
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Roifman Syndrome
Splenomegaly, Hepatomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... ORPHA:33226
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Congenital Fibrinogen Deficiency
Abnormal bleeding, Internal hemorrhage, Prolonged prothrombin time, Gingival bleeding, Bruising s... ORPHA:335
Immunodeficiency 58
Recurrent cutaneous abscess formation, Decreased circulating antibody level, Decreased specific a... OMIM:618131
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Rhombencephalosynapsis
Fusion of the left and right thalami ORPHA:59315
Q Fever
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... ORPHA:781
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity ORPHA:485421
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Abnormal thalamic MRI signal intensity ORPHA:70595
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Hepatomegaly OMIM:201100
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Increased cir... ORPHA:562639
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity ORPHA:529799
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:300894
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... OMIM:242840
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... ORPHA:449563
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... ORPHA:449395
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... ORPHA:79078
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Say-Barber-Miller Syndrome
Craniosynostosis, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreas... ORPHA:3132
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy ORPHA:2905
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Sclerosis of skull base, Annular pancreas, Delayed pubic bone os... OMIM:618162
Hypocomplementemic Urticarial Vasculitis
Complement deficiency, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:36412
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Biliary... ORPHA:2298
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Acute Disseminated Encephalomyelitis
Abnormal thalamic MRI signal intensity ORPHA:83597
Leigh Syndrome
Abnormal thalamic MRI signal intensity ORPHA:506
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... ORPHA:84064
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy OMIM:615157
Aceruloplasminemia
Abnormal thalamic MRI signal intensity ORPHA:48818
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration, Microangiopathic ... ORPHA:93552
Hydranencephaly
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Hennekam Syndrome
Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level,... ORPHA:2136
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Neurodegeneration, Cerebral atrophy ORPHA:391428
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Decreased circulating antibody le... ORPHA:289390
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Abnormality of the diencephalon ORPHA:2570
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Cerebral Visual Impairment
Unusual CNS infection, Central nervous system degeneration, Neurodegeneration, Meningitis, Infect... ORPHA:447788
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Combined Oxidative Phosphorylation Defect Type 29
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy ORPHA:478029
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... ORPHA:99147
Tay-Sachs Disease
Abnormal thalamic MRI signal intensity ORPHA:845
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Thrombocytopenia, Osteoporosis, Decreased circulating antibody level, H... ORPHA:470
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami OMIM:619306
American Trypanosomiasis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3386
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Anemia, Inc... ORPHA:77261
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Gm2 Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy ORPHA:309246
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Lymphatic Filariasis
Circulating immune complexes, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophil... ORPHA:2035
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thalamic hemorrhage, Thrombocytopenia ORPHA:464321
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia ORPHA:99812
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:615491
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Anemia, Decreased circulating antibody level ORPHA:79396
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... OMIM:267700
Trichinellosis
Increased circulating IgE level ORPHA:863
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:264700
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormality of the diencephalon ORPHA:2165
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased circulating antibody level, He... ORPHA:247598
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:277440
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Rift Valley Fever
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... ORPHA:319251
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... ORPHA:505248
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Decreased circulating IgG level, Delayed ossification of carpal bones, Neutropenia OMIM:271510
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85450
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom... ORPHA:1304
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno... OMIM:181000
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythe... OMIM:607944
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Neutropenia, Decreased ... ORPHA:175
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu... OMIM:259600
Melnick-Needles Syndrome
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... ORPHA:2484
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Decreased circulating total IgM, B l... ORPHA:83617
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Anemia ORPHA:99843
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy ORPHA:139402
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Relapsing Fever
Abnormal bleeding, Prolonged prothrombin time, Epistaxis, Thrombocytopenia ORPHA:91547
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Mucopolysaccharidosis, Type Ii
Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Neurodegeneration, Recurrent otitis media OMIM:309900
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Neurodegeneration, Pancytopenia, Gliosis, Cerebral atrophy OMIM:618321
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Craniosynostosis, Increased mean corpuscular hemoglob... ORPHA:33364
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Postinfectious Vasculitis
Viral hepatitis, Increased circulating IgA level, Abnormality of humoral immunity, Increased circ... ORPHA:48435
Leukocyte Adhesion Deficiency
Abnormal bleeding, Bone marrow hypocellularity, Abnormality of neutrophil physiology, Impaired ne... ORPHA:2968
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P... ORPHA:373
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... ORPHA:2796
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... OMIM:619418
Gm2-Gangliosidosis, Ab Variant
Neurodegeneration, Cerebral atrophy OMIM:272750
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis ORPHA:39812
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Splenomega... ORPHA:50918
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... OMIM:615846
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume ORPHA:168577
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating a... OMIM:274000
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ... ORPHA:3206
Hepatoportal Sclerosis
Abnormal bleeding, Prolonged prothrombin time, Gastrointestinal hemorrhage, Thrombocytopenia ORPHA:64743
Adrenoleukodystrophy
Neurodegeneration OMIM:300100
Bickerstaff Brainstem Encephalitis
Abnormal thalamic MRI signal intensity ORPHA:79138
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,... ORPHA:536
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Neurodegeneration OMIM:618476
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O... ORPHA:249
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Hurler Syndrome
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Neurodegeneration, Recurrent ... OMIM:607014
Neurodegeneration With Brain Iron Accumulation 3
Neurodegeneration OMIM:606159
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic adhesion, Periventricular heterotopia OMIM:618929
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... ORPHA:333
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Ataxia-Telangiectasia-Like Disorder 2
Cerebellar atrophy, Neurodegeneration OMIM:615919
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon ORPHA:2720
Infantile Liver Failure Syndrome 3
Prolonged prothrombin time OMIM:618641
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Splenomegaly, Recurrent upper respiratory tract infections, Neurodegenera... OMIM:253220
Craniopharyngioma
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... ORPHA:54595
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Dent Disease
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Splenomegaly, Leukocytosis, Jaundic... ORPHA:99827
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ... OMIM:602782
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration ORPHA:79244
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulation test, A... ORPHA:79443
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time ORPHA:99901
Sialuria
Prolonged prothrombin time ORPHA:3166
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L... ORPHA:99826
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Generalized joint laxity, Decreased calvarial ossification, Thin bony c... OMIM:613848
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Prolonged prothrombin time OMIM:613812
Neurodegeneration With Brain Iron Accumulation 2B
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy OMIM:610217
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function ORPHA:648
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement OMIM:620233
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
H Syndrome
Hepatosplenomegaly, Histiocytosis, Lymphadenopathy, Microcytic anemia ORPHA:168569
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Neurodegeneration, Cerebral atrophy OMIM:616878
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time ORPHA:79303
Gm1-Gangliosidosis, Type Ii
Thin bony cortex, Joint stiffness OMIM:230600
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Autoimmune thrombocytopenia, N... ORPHA:391487
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Prolonged prothrombin time, Thrombocytopenia OMIM:616271
Neurodegeneration With Brain Iron Accumulation 4
Cerebellar atrophy, Neurodegeneration OMIM:614298
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex OMIM:309583
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophilia, Thrombocytopenia, Leukocyto... ORPHA:3260
Oculodentodigital Dysplasia
Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger ORPHA:2710
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time ORPHA:88618
Hellp Syndrome
Thrombocytopenia, Prolonged prothrombin time, Internal hemorrhage, Cerebral hemorrhage ORPHA:244242
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
Cherubism
Submandibular lymph node enlargement OMIM:118400
Sponastrime Dysplasia
Delayed epiphyseal ossification, Neutropenia, Ivory epiphyses of the phalanges of the hand, Decre... ORPHA:93357
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Kasabach-Merritt Syndrome
Thrombocytopenia, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Shwachman-Diamond Syndrome 2
Prolonged prothrombin time, Thrombocytopenia OMIM:617941
Familial Mediterranean Fever
Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy ORPHA:342
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration OMIM:146500
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Increased susceptibility to fractures, Reduced b... ORPHA:2909
Combined Oxidative Phosphorylation Deficiency 37
Prolonged prothrombin time OMIM:618329
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Hashimoto thyroiditis, Aplasia of the thymus OMIM:618223
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... ORPHA:797
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness OMIM:277600
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:667
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism, Synostosis involving bones... ORPHA:221016
Frank-Ter Haar Syndrome
Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly OMIM:249420
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Neurodegeneration With Brain Iron Accumulation 1
Cerebral degeneration, Neurodegeneration, Global brain atrophy, Acanthocytosis OMIM:234200
Osteogenesis Imperfecta
Osteopenia, Recurrent fractures, Fractures of the long bones, Osteoarthritis, Flexion contracture... ORPHA:666
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Prolonged prothrombin time ORPHA:20
Spondyloocular Syndrome
Osteopenia, Thin bony cortex OMIM:605822
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Finger symphalangism ORPHA:221008
Autosomal Recessive Spastic Paraplegia Type 11
Hypothalamic atrophy ORPHA:2822
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Anemia, Abnormal thymus morphology, Hypoplasia of the thy... OMIM:188400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Thin bony cortex OMIM:613658
Amoebiasis Due To Free-Living Amoebae
Abnormal hypothalamus morphology ORPHA:68
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurodegeneration, Recurrent ear infections, Recurrent infections OMIM:619475
Isolated Biliary Atresia
Prolonged prothrombin time ORPHA:30391
Kawasaki Disease
Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Weill-Marchesani Syndrome 2
Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex, Joint stiffness OMIM:608328
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Behçet Disease
Splenomegaly, Pancreatitis, Lymphadenopathy ORPHA:117
Tyrosinemia, Type I
Melena, Prolonged prothrombin time, Gastrointestinal hemorrhage OMIM:276700
Blau Syndrome
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy ORPHA:90340
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Prolonged prothrombin time ORPHA:309854
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp... ORPHA:99889
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency, Sagittal craniosyn... ORPHA:500150
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time ORPHA:14
Yellow Fever
Abnormal bleeding, Excessive bleeding after a venipuncture, Hematemesis, Increased circulating Ig... ORPHA:99829
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Williams Syndrome
Abnormality of the diencephalon ORPHA:904
Acute Liver Failure
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... ORPHA:90062
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Polyclonal elevation of IgM ORPHA:171
Aspartylglucosaminuria
Arthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:93
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy ORPHA:3385
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Right unicoronal synostosis, Decreased circulating antibody level ORPHA:261537
Congenital Disorder Of Glycosylation, Type Iiw
Prolonged prothrombin time, Bleeding with minor or no trauma, Thrombocytopenia OMIM:619525
Mowat-Wilson Syndrome
Asplenia, Decreased circulating antibody level ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Right unicoronal synostosis, Decreased circulating antibody level ORPHA:261552
Norrie Disease
Abnormality of the diencephalon ORPHA:649
Primrose Syndrome
Neurodegeneration OMIM:259050

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 Cd40lg

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 Cd40lg.

No publications found that use IMPC mice or data for Cd40lg.

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
Cd40lgtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cd40lgtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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