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Gene: Fkbp11 MGI:1913370

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Gene Summary

Name:
FK506 binding protein 11
Synonyms:
1110002O23Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal brain morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Fkbp11em1(IMPC)Mbp HOM Early adult 0.00
small spleen Fkbp11em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

116 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Fkbp11 mutations

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

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

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

The table below shows human diseases predicted to be associated to Fkbp11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Chondritis ORPHA:564003
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Kerion Celsi
Lymphadenopathy ORPHA:499
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Kimura Disease
Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Skin rash, Increased circulating IgM level ORPHA:37748
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Recurrent pneumonia, Increased circ... OMIM:147060
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Bone marrow hypocellularity, Hyperostosis craniali... OMIM:231095
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucoc... ORPHA:98813
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Gnathodiaphyseal Dysplasia
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures OMIM:166260
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... OMIM:610163
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Immunodeficiency 61
Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis, Decreased circulating total IgM,... OMIM:300310
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Craniosynostosis, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent o... OMIM:618523
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Otitis media OMIM:312863
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:100025
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... OMIM:615767
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bronchiectasis, ... OMIM:619752
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
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
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I... OMIM:619707
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Increased circulating IgE ... OMIM:618282
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... ORPHA:69126
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia OMIM:615214
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Pustul... ORPHA:77297
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... ORPHA:277
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... OMIM:308230
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia OMIM:616941
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency 15B
Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphocyte proliferation in r... OMIM:615592
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increased circulating... ORPHA:397596
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig... OMIM:243700
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Pathologic fractu... OMIM:259700
Immunodeficiency 37
Colitis, Infectious encephalitis, Decreased circulating antibody level OMIM:616098
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Immunodeficiency 11A
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... OMIM:615206
Spondyloepiphyseal Dysplasia Tarda
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... ORPHA:93284
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy ORPHA:26790
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... OMIM:300635
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... OMIM:616100
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Increased circulating ant... ORPHA:77259
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... OMIM:618108
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... ORPHA:1782
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Increased circulating IgE level OMIM:616069
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... ORPHA:85188
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... OMIM:614856
Diastrophic Dysplasia
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness ORPHA:628
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Increased circulating antibo... ORPHA:169160
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification ORPHA:163649
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Decreased cir... OMIM:616576
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... ORPHA:436159
Autoimmune Hypoparathyroidism
Increased bone mineral density, Conjunctivitis, Chronic mucocutaneous candidiasis ORPHA:36913
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Recurrent pneumonia, Decreased circulating total IgM, Osteop... OMIM:612301
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynostosis, Eczema, Increased ci... ORPHA:2314
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... ORPHA:3409
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Skin rash, Increased circulating IgA level, Increased circ... OMIM:618048
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis OMIM:239000
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... OMIM:256500
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Conjunctivitis, I... ORPHA:448237
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... ORPHA:2137
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B... OMIM:241600
Sapho Syndrome
Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Recurrent ... ORPHA:793
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Thrombocytopenia 1
Increased circulating IgE level, Joint hemorrhage, Eczema, Increased circulating IgA level OMIM:313900
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Peeling Skin Syndrome 1
Increased circulating IgE level, Erythroderma OMIM:270300
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Pycnodysostosis
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... ORPHA:763
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Thyroiditis, Uveitis, Increased circulating IgG level, Keratocon... OMIM:617388
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... ORPHA:33364
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Increased bone mineral density, Conjunctivitis, Diaph... ORPHA:94089
Poems Syndrome
Sclerosis of hand bone, Sclerosis of skull base, Increased circulating antibody level, Sclerosis ... ORPHA:2905
Roifman Syndrome
Eosinophilia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Joint stiffness, Pustule, Increased circulating IgA level, Increased circula... OMIM:615934
Pgm3-Cdg
Osteomyelitis, Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Recurrent ski... ORPHA:443811
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Incr... OMIM:606367
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... OMIM:242860
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... OMIM:304790
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Increased circulating IgG level, Limited elbow flexion, Limited... ORPHA:206594
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Arthritis, Recurrent ... ORPHA:343
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density ORPHA:1798
Werner Syndrome
Increased bone mineral density, Osteoporosis, Joint stiffness ORPHA:902
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Increased circulating IgE le... OMIM:615816
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... ORPHA:355
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Atopic dermatitis, Osteopetrosis ORPHA:3240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... ORPHA:634
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co... OMIM:601495
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Gaucher Disease Type 3
Increased bone mineral density, Increased circulating antibody level, Osteolysis, Increased susce... ORPHA:77261
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis OMIM:259720
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... ORPHA:89936
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level ORPHA:90368
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu... OMIM:616005
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Skin rash, Osteolysis ORPHA:35687
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... OMIM:603553
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Osteomyelitis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Panniculitis, Skin rash, Increased circulating IgA level OMIM:617099
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Leukocytosis, Acute leukemia, Lymphadenopathy ORPHA:99812
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... ORPHA:2658
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Mirage Syndrome
Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Increased circulating specific IgE antibody, Increas... ORPHA:74
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis interna, Con... ORPHA:79443
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... ORPHA:90652
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... OMIM:260920
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85450
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Decreased circulating antibody level, Increased circ... ORPHA:29073
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... ORPHA:800
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... ORPHA:809
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:36412
Raine Syndrome
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation OMIM:259775
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... OMIM:615508
Primary Biliary Cholangitis
Increased circulating IgA level, Osteoporosis, Hepatitis, Gastrointestinal inflammation, Increase... ORPHA:186
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Pseudohypoparathyroidism Type 1C
Ectopic ossification, Increased bone mineral density, Conjunctivitis ORPHA:79444
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Decr... ORPHA:449395
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Osteolysis, Art... ORPHA:228123
Lead Poisoning
Skin rash, Cranial hyperostosis, Increased circulating IgE level, Abnormality of humoral immunity... ORPHA:330015
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis ORPHA:2902
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy ORPHA:139402
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis ORPHA:39812
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Increased circula... ORPHA:449432
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Desmosterolosis
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita OMIM:602398
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Wiskott-Aldrich Syndrome
Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Recurrent pneumoni... OMIM:301000
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Microphthalmia, Syndromic 9
Hypoplastic spleen, Multilobulated spleen OMIM:601186
Q Fever
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn... ORPHA:781
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... OMIM:615688
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Limited elbow movement, Recurrent pneumonia, Elbow flexion contracture, Increas... ORPHA:508533
Pearson Syndrome
Reticulocytosis, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Splenomegaly, Thrombocytopenia,... ORPHA:699
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ... OMIM:602782
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... ORPHA:333
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Recurrent pneumonia, Increased circulating IgM level, Bone marrow hypocellul... OMIM:617303
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Otitis media,... ORPHA:667
Atypical Werner Syndrome
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... ORPHA:79474
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... ORPHA:2035
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ... ORPHA:319251
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement OMIM:620233
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Cherubism
Submandibular lymph node enlargement OMIM:118400
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
H Syndrome
Microcytic anemia, Histiocytosis, Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Igg4-Related Pachymeningitis
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan... ORPHA:449427
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Japanese Encephalitis
Stiff neck, Elbow flexion contracture, Increased circulating IgM level, Increased circulating ant... ORPHA:79139
Primary Sclerosing Cholangitis
Osteopenia, Osteoporosis, Hepatitis, Ulcerative colitis, Uveitis, Thyroiditis, Polyclonal elevati... ORPHA:171
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Williams Syndrome
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... ORPHA:904
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Lymphopenia ORPHA:2136
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... ORPHA:79078
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... ORPHA:3260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Joint stiffness, Flexion contracture, Increased circulating IgM level, Conjunctivitis, Bone marro... ORPHA:505248
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Increased circulat... ORPHA:449563
Familial Mediterranean Fever
Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy ORPHA:342
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Increased circulating IgG4 level, Hashimoto thyroiditis, Thyroiditis ORPHA:64744
Tick-Borne Encephalitis
Stiff neck, Increased circulating IgG level, Increased circulating IgM level, Abnormality of seru... ORPHA:297
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures ORPHA:2785
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Stiff neck, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Increased ... ORPHA:99827
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Scleritis, Tubuloint... ORPHA:91500
Schinzel-Giedion Midface Retraction Syndrome
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones OMIM:269150
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... ORPHA:797
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti... ORPHA:289390
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:181000
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Behçet Disease
Splenomegaly, Pancreatitis, Lymphadenopathy ORPHA:117
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence of infection, Lymphadenopathy, L... ORPHA:99826
Blau Syndrome
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy ORPHA:90340
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Abnormal lymp... ORPHA:99889
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Increased circulating IgE level, Camptodactyly of finger ORPHA:373
Yellow Fever
Increased circulating IgM level, Acute pancreatitis, Skin rash, Increased circulating interleukin... ORPHA:99829
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy ORPHA:3385
Viss Syndrome
Joint laxity, Chronic gastritis, Eczema, Generalized joint laxity, Increased circulating IgE leve... OMIM:619472

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 Fkbp11

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 Fkbp11.

No publications found that use IMPC mice or data for Fkbp11.

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
Fkbp11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fkbp11em1(IMPC)Mbp Exon Deletion Mice, Tissue
Fkbp11tm213554(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Fkbp11tm446430(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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