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Gene: Il4ra MGI:105367

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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:
interleukin 4 receptor, alpha
Synonyms:
CD124,  Il4r,  IL-4 receptor alpha chain

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 Il4ra 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 Il4ra by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Human Coronavirus Sensitivity
Susceptibility to coronavirus 229e OMIM:122460
Coxsackievirus B3 Susceptibility
Recurrent viral infections OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation
Recurrent infections OMIM:215518
Varicella, Severe Recurrent
Severe recurrent varicella OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To
Tegumentary leishmaniasis susceptibility OMIM:602068
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc... OMIM:618944
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst OMIM:619549
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c... OMIM:619281
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Decreas... OMIM:615615
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count, Recurrent ... OMIM:613495
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Immunodeficiency 15B
Chronic oral candidiasis, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, ... OMIM:615592
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell m... OMIM:616911
Monocyte Chemotactic Disorder
Chronic mucocutaneous candidiasis, Cutaneous anergy OMIM:252250
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE... OMIM:615767
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in... OMIM:300635
Immunodeficiency 50
Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ... OMIM:300988
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c... OMIM:300400
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ... OMIM:613493
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Decreased circulating IgA level, Recurren... OMIM:137100
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decr... OMIM:616452
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi... ORPHA:277
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Recurrent respiratory infections, Recurrent p... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn... OMIM:613502
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos... OMIM:614470
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Recurrent infections, Splenomegaly OMIM:606445
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Abnormal natural killer cell count, Abnormal proportion of CD8-positive... OMIM:212050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Hypochromic microcytic anem... OMIM:619632
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Eosinophilia, Neutrophilia, Th... OMIM:226990
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Increased circulat... OMIM:619220
Immunodeficiency 11A
Recurrent respiratory infections, Decreased circulating antibody level, Reduced antigen-specific ... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Immunodeficiency 8 With Lymphoproliferation
Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, C... OMIM:615401
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, E... OMIM:620532
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient... OMIM:619707
Bare Lymphocyte Syndrome, Type Ii
Neutropenia, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Cholangitis,... OMIM:209920
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... OMIM:619802
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... OMIM:233650
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo... OMIM:153600
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Recurrent viral infections, Cutaneous anergy OMIM:114580
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Decreased circulating total IgM, Chronic mucocutaneous candidiasis, Incre... OMIM:619752
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level, Periodontitis OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Recurrent low... ORPHA:169154
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski... ORPHA:572
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media OMIM:616941
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, B lymphocytopenia, Increased circulating IgE level, Recurrent bacterial ski... ORPHA:217390
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, B lymphocytopenia, Recurrent bronchitis, Decr... OMIM:612692
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent... OMIM:615214
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic m... ORPHA:98813
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl... OMIM:618987
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Immunodeficiency 112
Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea... OMIM:620449
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Recurrent ear infections, Increased propor... OMIM:615513
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe... OMIM:613501
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level, Lymphopenia, Monocytopenia, Monoc... ORPHA:2688
Reticular Dysgenesis
Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T... OMIM:267500
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Decreased circulating total IgM, Sclerosing chola... OMIM:243700
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni... OMIM:618394
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin... OMIM:619924
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Recurrent respiratory infections, Panhypogammaglo... OMIM:615207
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Recurrent infections, Decreas... OMIM:617514
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,... OMIM:607594
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent infections, Arthritis, Skin rash, High palate, Agammaglob... ORPHA:33110
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Recurrent opportunistic infectio... ORPHA:276
Immunodeficiency 27A
Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Increased inflam... OMIM:209950
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,... OMIM:616636
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Megaloblastic anemia, Increas... OMIM:620603
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Malar rash... OMIM:603909
Immunodeficiency 102
Sepsis, Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific an... OMIM:301082
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis, Maculopapular exanthema ORPHA:157991
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O... ORPHA:83471
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Eczematoid dermati... OMIM:619510
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Eosinophil... ORPHA:486
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Increased circulating IgE level OMIM:616069
Netherton Syndrome
Hypereosinophilia, Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decr... OMIM:256500
Idiopathic Achalasia
Gastroesophageal reflux, Decreased circulating prealbumin concentration, Recurrent aspiration pne... ORPHA:930
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level OMIM:270300
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem... OMIM:616873
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating IgG level, Splenomegal... OMIM:618495
Lymphoproliferative Syndrome 3
Recurrent infections, Decreased circulating antibody level, Partial absence of specific antibody ... OMIM:618261
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Hemophagocytosis, Recurrent lower respiratory tract i... OMIM:619644
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Recurrent respiratory infections, Elevated c... OMIM:620565
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... OMIM:300853
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Anemia, Hypocalcemia, Arthritis, Skin rash, Glossoptosis, Hepatitis... ORPHA:47
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Re... OMIM:612783
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Increased circulating lactate dehydrogenase conce... ORPHA:158061
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Aplasia of the thymus, Abnormally low T cell receptor excision circle l... OMIM:602450
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Recurrent infections, Thrombocytopenia, Splenomegal... OMIM:615285
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Anemia, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T cel... OMIM:304790
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Intermittent thro... OMIM:616740
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Furuncl... OMIM:618969
Immunodeficiency 88
Eosinophilia OMIM:619630
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated circulating hepatic transaminase concentration, Cachexia, Abnormal intestine morphology,... ORPHA:37042
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu... OMIM:308240
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloma, Multiple
Paraproteinemia OMIM:254500
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Splenomegaly, Lymphopenia, Autoimmune thromb... ORPHA:444463
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Decreased proportion of central memor... OMIM:616098
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, B lymphocytopenia, Skin rash, Increased circulating IgA level, D... OMIM:618048
Immunodeficiency 23
Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:615816
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir... ORPHA:169079
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch... ORPHA:70593
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule, Increased circulating IgE level OMIM:614328
Immunodeficiency 48
Recurrent candida infections, Pneumocystis carinii pneumonia, Impaired lymphocyte transformation ... OMIM:269840
Iga Pemphigus
Neutrophilic infiltration of the skin, Increased circulating IgA level, Monoclonal elevation of c... ORPHA:555905
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Reticular Dysgenesis
Chronic otitis media, Sepsis, Anemia, Skin rash, Decreased circulating antibody level, Failure to... ORPHA:33355
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... OMIM:617388
Cinca Syndrome
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis... OMIM:607115
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec... OMIM:607624
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Decreased circulating antibody level, Lymp... OMIM:619846
Roifman Syndrome
Recurrent otitis media, Decreased circulating antibody level, Eczematoid dermatitis, Recurrent pn... ORPHA:353298
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection... OMIM:614493
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... ORPHA:90045
Dietary Iron Overload Disease
Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis... ORPHA:139507
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, He... ORPHA:397596
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis OMIM:314000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Agammaglobulinemia, X-Linked
Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Hepatoc... OMIM:300755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Recurrent otitis media, Pyoderma, Pneumoni... OMIM:307200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, B lymphocytopenia, Decreased circulating anti... OMIM:614069
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Eosinophilic Fasciitis
Myositis, Arthritis, Abnormal eosinophil morphology, Eosinophilia, Fasciitis ORPHA:3165
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating al... OMIM:613812
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating he... OMIM:607765
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased circulating IgG... ORPHA:275
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Splenomegaly, Hype... OMIM:615387
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating IgG level, Decreased proporti... OMIM:611926
Hepatitis Delta
Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ... ORPHA:402823
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Panniculitis, Optic neuritis, B lymphocytopenia, Decreased circu... OMIM:301081
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Immunodeficiency 92
Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Decreased proportion of class... OMIM:619652
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, H... ORPHA:2070
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati... ORPHA:79303
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, I... ORPHA:2137
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Skin rash, Increased circulating IgE level, Eczematoid dermati... ORPHA:2314
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Immunodeficiency 115 With Autoinflammation
Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc... OMIM:620632
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Crohn's disease, Arthritis, Decreased circulating antibody level, Ec... OMIM:616100
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, Crohn's disease, B lymphocyto... OMIM:619705
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Steatorrhea, Biliary cirrhosis, Onychomycosis, Splenome... ORPHA:186
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Panniculitis, Decreased circulating IgE, Pericarditis, Decrease... OMIM:615758
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, Decreased circulating antibody level, ... OMIM:618108
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splen... OMIM:619381
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Complete or near-complete absence of specific antibody response... OMIM:613496
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Immunodeficiency 13
Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, Nasal p... OMIM:615518
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Decreased circulating total IgM, Anemia, Functi... ORPHA:90362
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Pancolitis, Increased circulating IgG level, In... OMIM:618213
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Menin... OMIM:614379
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Decre... OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r... ORPHA:35078
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Sepsis, Melena, Increased circulating antibody level, Acute pancreat... ORPHA:319218
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Recurrent otitis ... OMIM:615559
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Immunodeficiency 43
Lung abscess, Abnormal circulating IgM level, B lymphocytopenia, Decreased circulating IgG level,... OMIM:241600
Boutonneuse Fever
Increased circulating IgG level, Skin rash, Increased circulating IgM level, Thrombocytopenia, Le... ORPHA:83313
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, Arthritis, B lymphocytopenia, T lymphocytopenia, Purulent rhinitis, Oti... OMIM:601457
Chilblain Lupus
Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... ORPHA:48435
Netherton Syndrome
Emphysema, Skin rash, Decreased circulating antibody level, Increased circulating IgE level, Ecze... ORPHA:634
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent urinary tract infections, Decreased circulating IgG level, Leukopenia, Splenomegaly, Ly... OMIM:620210
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Eosinophilia, Pustule, Infectious encephaliti... ORPHA:139402
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Splenomegaly, Pn... ORPHA:39041
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Decreased circulating antibody ... ORPHA:381
Inflammatory Pseudotumor Of The Liver
Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer... ORPHA:90003
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Graft Versus Host Disease
Gastrointestinal inflammation, Pneumonia, Jaundice, Elevated circulating hepatic transaminase con... ORPHA:39812
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Neutropenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis OMIM:300299
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis OMIM:114550
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent viral upper respiratory tract infections, Frequent Giardia lamb... OMIM:615577
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Hyperbilirubinemia, Peritoneal abscess, Abnor... ORPHA:400
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss ORPHA:52416
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Crohn's disease, Optic neuritis, Thyroiditis, Neutropenia in presenc... ORPHA:436159
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating creatine kinase concentration, Elevated serum transaminases during infection... OMIM:611182
Roifman Syndrome
Recurrent otitis media, Eczematoid dermatitis, Recurrent pneumonia, Splenomegaly, Eosinophilia OMIM:616651
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Avian Influenza
Sepsis, Elevated circulating hepatic transaminase concentration, Myelitis, Elevated circulating C... ORPHA:454836
Congenital Enterovirus Infection
Myocarditis, Sepsis, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis, Leukocytosis... ORPHA:292
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s... OMIM:617237
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Myocarditis, Hepatomegaly, Anemia, Elevated circulating... ORPHA:829
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... ORPHA:905
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis... ORPHA:331235
Interstitial Lung Disease 2
Increased circulating antibody level, Elevated bronchoalveolar lavage fluid neutrophil proportion... OMIM:178500
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated circulating crea... ORPHA:449395
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Bronchiolitis, Recurrent sinopulmonary inf... OMIM:614878
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Elevated circulating creatinine concentr... ORPHA:36234
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Lymphopenia, Recurrent Aspergillus infections, Thyroiditis, Recurr... ORPHA:391487
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk... OMIM:618116
Igg4-Related Pachymeningitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re... ORPHA:449427
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga... ORPHA:2198
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent lower respiratory tract infections, Decreased cir... OMIM:617744
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Jaundice, Hepatomegaly, Panniculitis, Hepatocellular carcinoma, Cholestasis, Bronchiec... ORPHA:60
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Elevated circulating hepatic transami... ORPHA:507
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy OMIM:618999
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increa... ORPHA:69126
Immunodeficiency 17
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo... OMIM:615607
Trichohepatoenteric Syndrome 2
Cirrhosis, Hepatomegaly, Colitis, Chronic hepatitis, Failure to thrive, Decreased circulating iro... OMIM:614602
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Elevated circulating carcinoembryonic antigen concentration, Weight lo... ORPHA:100083
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low... OMIM:600802
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Nasal polyposis, Sinusitis, Endocarditis, Abnormal p... ORPHA:183
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Decreased liver function, Cholestatic liver disease, Elevated circulating h... ORPHA:540
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Elevated alkaline phosphatase of bone origin, Iron... ORPHA:398063
Sting-Associated Vasculopathy, Infantile-Onset
Anemia, Malar rash, Myositis, Skin rash, Increased circulating IgG level, Increased circulating I... OMIM:615934
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level, Eosinophilic infiltration of t... OMIM:615508
Isolated Congenital Hypoglossia/Aglossia
Cleft palate, Weight loss, Aspiration pneumonia, Microglossia ORPHA:141152
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis, Recurrent respiratory infections OMIM:618042
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Splenomegaly, Abnormal B cell count, ... ORPHA:100024
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Cyclic Neutropenia
Perianal abscess, Periodontitis, Decreased eosinophil count, Lymphopenia, Sinusitis, Enterocoliti... ORPHA:2686
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ski... ORPHA:3392
Immunodeficiency 21
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... OMIM:614172
Q Fever
Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr... ORPHA:781
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent otitis media, Abnormal B cell morphology, Recurrent infections, Decreased circulating a... OMIM:616910
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Portal hypertension, Hashimoto thyroiditis, ... OMIM:613385
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C... ORPHA:171
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Pyoderma, Emphysema, Abnormally low T cell receptor excision ci... OMIM:242700
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Recurrent infections, Neutropenia in presence of anti-neutr... ORPHA:228426
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Legionnaires Disease
Myocarditis, Sepsis, Jaundice, Pancreatitis, Recurrent pharyngitis, Hyponatremia, Pericarditis, B... ORPHA:549
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level OMIM:615872
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decrea... OMIM:613011
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Lymphoproliferative Syndrome 2
Aplastic anemia, Sepsis, Hemophagocytosis, Pancytopenia, Recurrent infections, Decreased circulat... OMIM:615122
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Recurrent infections, Me... OMIM:617780
Felty Syndrome
Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Neutrop... ORPHA:47612
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Sepsis, Small intestinal dysmotility, Cholestasis, Enterocoli... ORPHA:95427
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Increased circulating interleukin 6 concentration, Anoperineal fistula, Elevate... OMIM:301074
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Abnormal immunoglobulin level, Neutropenia OMIM:618752
Acute Generalized Exanthematous Pustulosis
Cheilitis, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule, Neutrophilia, Con... ORPHA:293173
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Melioidosis
Lung abscess, Unusual skin infection, Sepsis, Liver abscess, Pneumonia, Prostatitis, Acute infect... ORPHA:31202
Tempi Syndrome
Increased circulating IgG level, Polycythemia, Increased hematocrit ORPHA:284227
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Wells Syndrome
Eosinophilia ORPHA:901
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent vulvovaginal candidiasis, O... OMIM:614162
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ... ORPHA:449432
Immunodeficiency 9
Abnormal natural killer cell count, Recurrent infections, Hypoplasia of the thymus, Decreased cir... OMIM:612782
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells OMIM:619693
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal... ORPHA:848
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ... ORPHA:723
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Elevated circulating hepatic transaminase concentration, Intrahepatic cho... OMIM:614921
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Anemia, Increased circulating interleukin 6 co... OMIM:620514
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Late-Onset Isolated Acth Deficiency
Sepsis, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyperuricemia, Adrenocorticotro... ORPHA:199299
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Lead Poisoning
Abnormal T cell morphology, Anemia, Skin rash, Increased circulating IgE level, Abnormality of hu... ORPHA:330015
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Abnormal circulating protein concentration, Hematochezia, Abnormal ci... ORPHA:103910
Aicardi-Goutieres Syndrome 7
Hematemesis, Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Increased circul... OMIM:615846
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Panniculitis, Anemia, Erythroid hypoplasia, Recurrent lower respiratory tract i... OMIM:612541
Hirschsprung Disease
Intestinal obstruction, Sepsis, Aganglionic megacolon, Intestinal polyposis, Functional abnormali... ORPHA:388
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Elevated circulating C-reactive protein concentration, Th... ORPHA:449563
Microsporidiosis
Cachexia, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchioli... ORPHA:2552
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulat... ORPHA:54251
Autoimmune Polyendocrinopathy Type 4
Aplasia/Hypoplasia of the spleen, Keratoconjunctivitis sicca, Non-caseating epithelioid cell gran... ORPHA:227990
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Recurrent tonsillitis, Cholelithiasis, Atopic dermatitis, Increased circulating ren... ORPHA:171876
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia, Failu... OMIM:238970
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Sinusitis, Bronchiectasis, Increased circulating IgM level, Pneumonia, Reduced... OMIM:242860
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... ORPHA:79095
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Budd-Chiari Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Cirrhosis, Jau... ORPHA:131
Alveolar Echinococcosis
Liver abscess, Anemia, Cholangitis, Increased circulating antibody level, Abnormal spleen morphol... ORPHA:284
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Rift Valley Fever
Hematemesis, Jaundice, Anemia, Melena, Elevated circulating hepatic transaminase concentration, I... ORPHA:319251
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Chronic lymphatic leukemia, Arthritis, Monoclonal elevation of circu... ORPHA:91139
Autoimmune Polyendocrinopathy Type 3
Aplasia/Hypoplasia of the spleen, Keratoconjunctivitis sicca, Non-caseating epithelioid cell gran... ORPHA:227982
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:613404
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Recurrent infections, Increased circulating thyroglobulin concentrati... OMIM:610199
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph... OMIM:158310
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Dominant Beta-Thalassemia
Cirrhosis, Abnormality of iron homeostasis, Hypoparathyroidism, Hypochromic microcytic anemia, Ja... ORPHA:231226
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Decreased circulating IgA level OMIM:215250
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large... OMIM:266600
Caroli Disease
Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholelithiasis, Cholangitis, Hepato... ORPHA:53035
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Hypouricemia, Neutrope... OMIM:613179
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Elevated circulating hepatic transam... ORPHA:67
Pfapa Syndrome
Hepatomegaly, Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infectious encephalitis ORPHA:42642
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Abnormality of the gastrointestinal tract, Anemia, Elevated circulating hepatic transa... ORPHA:298
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa... ORPHA:65682
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Weight loss, Hepatomegaly ORPHA:79238
Brucellosis
Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu... ORPHA:1304
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Aggressive Systemic Mastocytosis
Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast... ORPHA:98850
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Loeffler Endocarditis
Eosinophilia, Pericarditis ORPHA:75566
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Failure to thrive, High palate, Weight loss OMIM:620045
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Slender build, Weight loss, Gastrointestinal dysmotility OMIM:613662
Combined Immunodeficiency-Enteropathy Spectrum
Recurrent abscess formation, Autoimmune hemolytic anemia, Gastrointestinal atresia, Rectal absces... ORPHA:436252
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Skin rash, Chronic mucocutaneous candidiasis, Increased circulating IgE... OMIM:147060
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Myeloproliferative... ORPHA:3226
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Inflammation... ORPHA:324964
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiect... OMIM:604571
Lichen Planopilaris
Abnormal intestine morphology, Hepatitis ORPHA:525
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Elevated circulating C... ORPHA:3243
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn... OMIM:619767
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Cholangitis, Anemia, Arthritis, Myeloproliferative disorder, Leukocytosis, Pleural ... ORPHA:3260
Caffey Disease
Increased circulating antibody level ORPHA:1310
Transcobalamin Ii Deficiency
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Decreased circu... OMIM:275350
Proteasome-Associated Autoinflammatory Syndrome 3
Panniculitis, Anemia, Increased circulating antibody level, Myositis, Arthritis, Skin rash, Lymph... OMIM:617591
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Increased circulating antibody level ORPHA:48377
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Sepsis, Abnormal circulating interleukin concentr... ORPHA:70578
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Polyarteritis Nodosa
Pericarditis, Abnormality of the gastrointestinal tract, Weight loss, Elevated circulating C-reac... ORPHA:767
Lymphatic Filariasis
Circulating immune complexes, Knee osteoarthritis, Lymphadenitis, Abnormal lung morphology, Epidi... ORPHA:2035
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in... ORPHA:26790
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Recurrent herpes, Abnormality of the spleen... ORPHA:33276
Chronic Mucocutaneous Candidiasis
Cheilitis, Recurrent infections, Recurrent urinary tract infections, Skin rash, Recurrent respira... ORPHA:1334
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Autoimmune Polyendocrine Syndrome, Type Ii
Steatorrhea, Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunct... OMIM:269200
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu... ORPHA:289390
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Hypochromic microcytic anemia, Anemia, Cholestasis, Porta... ORPHA:440713
Mccune-Albright Syndrome
Hepatocellular adenoma, Pancreatitis, Gastroesophageal reflux, Pancytopenia, Cholestasis, Abnorma... ORPHA:562
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Abnormal lung morphology, Abnormal pleura m... ORPHA:797
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Anemia, Increased serum bile acid concentration, Hypokalemia, ... OMIM:619377
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia OMIM:615190
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased circulating total IgG, Chronic oral candidiasis, B lymphocytopenia, Recurrent urinary t... ORPHA:221139
Prolidase Deficiency
Anemia, Increased circulating antibody level, Eczematoid dermatitis, Recurrent pneumonia, Thrombo... OMIM:170100
Celiac Disease, Susceptibility To, 1
Steatorrhea, Elevated circulating hepatic transaminase concentration, Thrombocytosis, Macrocytic ... OMIM:212750
Kawasaki Disease
Myocarditis, Cheilitis, Jaundice, Recurrent pharyngitis, Elevated circulating C-reactive protein ... ORPHA:2331
Oculopharyngodistal Myopathy
High, narrow palate, Oral-pharyngeal dysphagia, High palate, Impaired oropharyngeal swallow respo... ORPHA:98897
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Arthritis, Viral hepatit... ORPHA:91138
Dyskeratosis Congenita, Digenic
Anemia, Recurrent infections, Decreased circulating IgG level, Decreased circulating total IgM, D... OMIM:620040
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the... ORPHA:85450
Thymoma
Aplastic anemia, Myositis, Decreased circulating antibody level, Rheumatoid arthritis, Pure red c... ORPHA:99867
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Weight loss, Mastocytosis ORPHA:66661
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Infectious enc... ORPHA:448237
Wilson Disease
Portal fibrosis, Acute hepatic failure, Dysphagia, Splenomegaly, High nonceruloplasmin-bound seru... OMIM:277900
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Juvenile rheu... ORPHA:1855
Undifferentiated Pleomorphic Sarcoma
Weight loss, Abnormal peritoneum morphology ORPHA:2023
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Bronchiectasi... ORPHA:60033
Congenital Isolated Acth Deficiency
Hyponatremia, Hepatitis, Prolonged neonatal jaundice ORPHA:199296
Majeed Syndrome
Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, Failure to thrive... ORPHA:77297
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ... ORPHA:2298
Hepatitis, Fulminant Viral, Susceptibility To
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati... OMIM:618549
Follicular Lymphoma
Meningitis, Splenomegaly, Weight loss, Abnormal peritoneum morphology ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss ORPHA:86893
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Abnormality of the gastrointesti... ORPHA:85443
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Decreased circulating complement C3 concentration, Decr... ORPHA:329918
Multiple Myeloma
Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a... ORPHA:29073
Wolman Disease
Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Esophageal varix, Splenomega... ORPHA:75233
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Weight loss OMIM:191390
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis ORPHA:863
Rhabdoid Tumor
Anemia, Thrombocytopenia, Hypercalcemia, Weight loss, Neoplasm of the liver ORPHA:69077
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Recurrent urinary ... OMIM:619487
Huntington Disease-Like 2
Weight loss ORPHA:98934
Rat-Bite Fever
Morbilliform rash, Myocarditis, Sepsis, Anemia, Pancreatitis, Arthritis, Parotitis, Skin rash, Ly... ORPHA:31205
Acute Disseminated Encephalomyelitis
Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Severe parainfluenza ... ORPHA:83597
Bullous Pemphigoid
Recurrent infections, Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis ORPHA:703
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Riddle Syndrome
Arthritis, Decreased circulating IgG level, Recurrent viral infections, Recurrent pneumonia, Recu... ORPHA:420741
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Abnormality of iron homeostasis, Hepatomegaly, Arthritis, Hepatocellular carcinoma, Ch... ORPHA:465508
Tick-Borne Encephalitis
Abnormal circulating cytokine concentration, Myelitis, Increased circulating IgG level, Leukocyto... ORPHA:297
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Increased circ... OMIM:613673
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Hepatomegaly, Abnormal peritoneum morphology,... ORPHA:83469
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m... OMIM:240300
Castleman Disease
Intestinal obstruction, Abnormality of the gastrointestinal tract, Increased circulating interleu... ORPHA:160
Cronkhite-Canada Syndrome
Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Cachexia, Furrowed tongue, Hamartomat... ORPHA:2930
Alstrom Syndrome
Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Decreased HDL choles... OMIM:203800
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Bone marrow hypocellularity, Splenomegaly, Weight loss ORPHA:391
Erythrokeratodermia Variabilis
Skin rash, Abnormal testis morphology, Weight loss ORPHA:317
Gaucher Disease
Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Increased circulating antibody level,... ORPHA:355
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Accessory spleen, Recurrent infections, Chron... OMIM:300972
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Recurrent otitis media, Panniculitis, Increase... OMIM:256040
Pleural Mesothelioma
Hepatomegaly, Dysphagia, Weight loss ORPHA:50251
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Incontinentia Pigmenti
Leukocytosis, Keratitis, Eosinophilia, Maculopapular exanthema, Uveitis OMIM:308300
Good Syndrome
Anemia, Recurrent urinary tract infections, Abnormal leukocyte morphology, Decreased circulating ... ORPHA:169105
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased liver function, Hepatomegaly, Hyperornithinemia, Abnormal circulating citrulline concen... ORPHA:415
Incontinentia Pigmenti
Skin rash, Keratitis, Eosinophilia, Infectious encephalitis, Uveitis ORPHA:464
Hyper-Igd Syndrome
Chronic oral candidiasis, Arthritis, Skin rash, Increased circulating IgA level, Lymphadenitis, L... OMIM:260920
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Decreased liver function, Steatorrhea, Elevated circulating hepatic transam... ORPHA:275761
Myasthenia Gravis
Myositis, Rheumatoid arthritis, Pure red cell aplasia, Hashimoto thyroiditis, Dysphagia, Hepatiti... ORPHA:589
Ataxia-Telangiectasia
Hypoplasia of the thymus, T lymphocytopenia, Sinusitis, Decreased circulating IgG level, Acute ly... OMIM:208900
Cap Polyposis
Hematochezia, Weight loss, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Elevated circulating aldolase... ORPHA:732
Holocarboxylase Synthetase Deficiency
Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, Thrombocytopenia, W... ORPHA:79242
Takayasu Arteritis
Gastrointestinal infarctions, Anemia, Inflammatory abnormality of the eye, Arthritis, Weight loss... ORPHA:3287
Pyomyositis
Sepsis, Testicular teratoma, Recurrent infections, Myositis, Leukocytosis, Weight loss, Recurrent... ORPHA:764
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233710
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreased circulating... OMIM:612301
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Anemia, Hypokalemia, Glossitis, Hypocalcemia, Cachexia, Hamartomatous... OMIM:175500
Thrombocytopenia-Absent Radius Syndrome
Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Hepatosplenome... OMIM:274000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Gastroesophageal reflux, Recurrent respiratory infections, Abnormal gastroin... ORPHA:1018
Igg4-Related Thyroid Disease
Thyroiditis, Increased circulating IgG4 level, Hashimoto thyroiditis, Sclerosing cholangitis ORPHA:64744
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Sepsis, Anemia, Elevated circulating hepatic transaminase concentrat... ORPHA:537
Vici Syndrome
Recurrent infections, Decreased circulating IgG level, Recurrent respiratory infections, Decrease... ORPHA:1493
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Hepatitis, Splenomegaly ORPHA:584
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Anemia, Failure to thrive, Weight loss, Recurrent respiratory infections ORPHA:1842
Malignant Peritoneal Mesothelioma
Ileus, Weight loss, Peritonitis ORPHA:168811
Cirrhosis, Familial
Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Esophagea... OMIM:215600
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ... ORPHA:85410
Chronic Hiccup
Weight loss ORPHA:396
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Klebsiella infections, Recurrent E. coli infections, Liver abscess, Recurrent Staphyloc... OMIM:233690
Yao Syndrome
Xerostomia, Skin rash, Arthritis, Pericarditis, Inflammatory abnormality of the skin, Weight loss... OMIM:617321
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Bronchiectasis, Weight loss, Disseminated nontubercu... ORPHA:411703
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Jaundice, Pancreatitis, Increased circulating... ORPHA:370348
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss ORPHA:178029
Cryptogenic Organizing Pneumonia
Neutrophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:1302
Lujo Hemorrhagic Fever
Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reac... ORPHA:319213
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Arthritis, Symmetric polyarthritis, Abnormal circulating interleukin concentration, Synovitis ORPHA:85435
Familial Pancreatic Carcinoma
Jaundice, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction,... ORPHA:1333
Gaucher Disease Type 1
Abnormal pulmonary interstitial morphology, Decreased HDL cholesterol concentration, Anemia, Incr... ORPHA:77259
Laryngotracheoesophageal Cleft Type 4
Cachexia, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the spleen, In... ORPHA:93941
Isaacs Syndrome
Weight loss ORPHA:84142
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Sepsis, Anemia, Elevated circulating hepatic transaminase concentrat... ORPHA:36426
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss, Elevated circulating C-reactive protein concentration OMIM:180300
Kikuchi-Fujimoto Disease
Myocarditis, Abnormality of the gastrointestinal tract, Neutropenia, Anemia, Elevated circulating... ORPHA:50918
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Recurrent infections, Impair... OMIM:614576
Mucopolysaccharidosis-Plus Syndrome
Anemia, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased circulating... OMIM:617303
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normo... ORPHA:97280
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level, Hypoproteinem... ORPHA:86816
Leptospirosis
Jaundice, Hepatomegaly, Optic neuritis, Skin rash, Hepatitis, Pericarditis, Thrombocytopenia, Ele... ORPHA:509
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h... ORPHA:35858
Bloom Syndrome
Cheilitis, Decreased circulating total IgM, Acute myeloid leukemia, Abnormal proportion of CD8-po... ORPHA:125
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Elevated circulating deoxyuridine concentration, Cachexia, Intesti... OMIM:603041
Huntington Disease
Decreased body mass index, Abnormal circulating cholesterol concentration, Weight loss, Oral-phar... ORPHA:399
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Relapsing Polychondritis
Myocarditis, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Arthritis, Episc... ORPHA:728
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Myositis, Thyroiditis, Increased circulating IgA level, Increased cir... ORPHA:79078
Whipple Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Myositis, Arthritis, Cachexia, Hy... ORPHA:3452
Primary Myelofibrosis
Hepatomegaly, Anemia, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leukocytosis, Portal ... ORPHA:824
Ppoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Increased circulat... ORPHA:97278
Somatostatinoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Incre... ORPHA:97283
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Acute Promyelocytic Leukemia
Anemia, Pancytopenia, Stomatitis, Leukocytosis, Leukopenia, Thrombocytopenia, Weight loss, Chroni... ORPHA:520
Crimean-Congo Hemorrhagic Fever
Myocarditis, Morbilliform rash, Pancytopenia, Increased circulating IgG level, Parotitis, Acute p... ORPHA:99827
Granulomatosis With Polyangiitis
Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Prostatitis, Pancreati... ORPHA:900
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Increased circulating IgA level, Recurrent aphthous stomatitis, Peritonitis ORPHA:343
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Increased circulating antibody level, Panc... OMIM:181000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Alexander Disease Type I
Cachexia, Failure to thrive, Dysphagia ORPHA:363717
Autoinflammatory Disease, Systemic, With Vasculitis
Anemia, Increased circulating interleukin 6 concentration, Arthritis, Parotitis, Increased B cell... OMIM:620376
Pemphigus Vulgaris
Recurrent infections, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:607143
Zollinger-Ellison Syndrome
Peptic ulcer, Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Jaundice, Pitu... ORPHA:913
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein conc... OMIM:610377
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,... ORPHA:91500
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia, Aganglionic megacolon ORPHA:1438
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Familial Glucocorticoid Deficiency
Hyperkalemia, Recurrent infections, Recurrent urinary tract infections, Cryptorchidism, Hyponatre... ORPHA:361
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Weight loss, Neoplasm of the liver, Red... ORPHA:2126
Huntington Disease-Like 2
Weight loss OMIM:606438
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Increased circulat... ORPHA:97261
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Neoplasm of the rectum, Stomach cancer, He... ORPHA:440437
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... ORPHA:470
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating antibody level, Decreased circulating IgA level OMIM:606056
Gm1 Gangliosidosis
Gastroesophageal reflux, Aspiration pneumonia, Failure to thrive, Hepatosplenomegaly, Dysphagia, ... ORPHA:354
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... ORPHA:542323
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Elevated circulating creatine kinase concentration ORPHA:1933
Renpenning Syndrome
High, narrow palate, Cachexia, Anal atresia, Decreased testicular size, Cleft palate ORPHA:3242
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Intestinal pseudo-obstruction, Cachexia, Abnormal gast... ORPHA:1876
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczematoid dermatitis, Severe viral infection, Rheumatoid arthritis, Fai... ORPHA:79128
Mogs-Cdg
Decreased circulating antibody level, Decreased circulating IgG level, Hepatosplenomegaly, Thromb... ORPHA:79330
Christianson Syndrome
Cachexia, Dysphagia, Gastroesophageal reflux ORPHA:85278
Osteosarcoma
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... ORPHA:668
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Vici Syndrome
Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Cutaneous anergy, T lymphocyto... OMIM:242840
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Cachexia, Weight loss, Hyperlipoproteinemia ORPHA:1979
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperuri... ORPHA:20
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Neutropenia, Lymphopenia OMIM:616395
Moynahan Syndrome
Cachexia ORPHA:2574
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Nodular goiter, Dysphagia, Weight loss, Goiter ORPHA:142
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated alkaline phosphat... ORPHA:100085
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com... ORPHA:79324
Occipital Horn Syndrome
High, narrow palate, Jaundice, Abnormal esophagus physiology, Gastroesophageal reflux, Recurrent ... ORPHA:198
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Intraalveolar phospholipid accumulatio... ORPHA:747
Juvenile Huntington Disease
Weight loss ORPHA:248111
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss, Hypokalemia OMIM:188580
Nocardiosis
Scleritis, Sepsis, Liver abscess, Thyroiditis, Lymphadenitis, Pericarditis, Conjunctivitis, Endoc... ORPHA:31204
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Calcinosis, Elevated circulating C-reactive protein concentration, M... ORPHA:93672
Reactive Arthritis
Recurrent aphthous stomatitis, Recurrent urinary tract infections, Arthritis, Inflammation of the... ORPHA:29207
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Failure to thrive, Recurrent inf... OMIM:612132
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Increased circulating lactate dehy... ORPHA:514
Secondary Intestinal Lymphangiectasia
Recurrent infections, Decreased circulating antibody level, Lymphopenia, Decreased circulating Ig... ORPHA:90363
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Elevated circulating creatinine concentration ORPHA:90060
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Splenomegaly, Polysplenia ORPHA:373
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arteritis, Intestinal perforation, Int... ORPHA:679
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Intrahepatic cholestasis, Hyp... ORPHA:97282
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Pheochromocytoma, Primary hyperparathyroidism, Nodular goit... ORPHA:1332
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia, Aspiration pneumonia ORPHA:216866
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema, Increased circulating IgG level, Chronic gast... OMIM:619472
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis... ORPHA:1830
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Weight loss, Hypokalemia OMIM:613239
Acquired Hypertrichosis Lanuginosa
Glossitis, Macroglossia, Ovarian neoplasm, Weight loss ORPHA:2221
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Recurrent upper respiratory tract infec... OMIM:210900
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Primary hyperparathyroidism, Pituitary prolactin cell adenoma, Pit... ORPHA:97289
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia, Aganglionic megacolon, Ileus ORPHA:52503
Acute Liver Failure
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, S... ORPHA:90062
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice... ORPHA:100086
Giant Cell Arteritis
Gastrointestinal infarctions, Recurrent pharyngitis, Glossitis, Arthritis, Pericarditis, Weight l... ORPHA:397
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Leukocytosis, Pericarditis, Weight loss ORPHA:188
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Klatskin Tumor
Hepatomegaly, Jaundice, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration ORPHA:363558
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Lipodystrophy, Congenital Generalized, Type 4
Recurrent infections, Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly OMIM:613327
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss ORPHA:86884
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Weight loss ORPHA:33577
Poems Syndrome
Hepatomegaly, Increased circulating antibody level, Polycythemia, Splenomegaly, Weight loss, Incr... ORPHA:2905
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Recurrent infections, Leukocytosis, Reticulocytosis, Poikilocytosis, De... OMIM:618278
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Lassa Fever
Increased circulating IgM level, Conjunctivitis ORPHA:99824
Say-Barber-Miller Syndrome
Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat... ORPHA:3132
Peritoneal Cystic Mesothelioma
Weight loss, Peritonitis ORPHA:168816
Scleromyxedema
Abnormal lung morphology, Abnormal pulmonary artery morphology, Elevated circulating creatine kin... ORPHA:167635
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Elevated circulating C-react... ORPHA:49041
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell... OMIM:301310
Tetrasomy 12P
Cachexia, Anal atresia, Abnormal soft palate morphology ORPHA:884
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Recurrent candida infections, Splenomegaly, Impaired T cell function OMIM:201100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Accessory spleen, Recurrent infections, Decreased circulating IgG level, Severe B lymphoc... OMIM:620005
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Leukocytosis, Portal hypertension, Por... ORPHA:729
Ileal Neuroendocrine Tumor
Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Small intestine ... ORPHA:100078
Neuroblastoma
Anemia, Increased circulating lactate dehydrogenase concentration, Thrombocytopenia, Weight loss,... ORPHA:635
Addison Disease
Hyperkalemia, Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Hyperuricemia, I... ORPHA:85138
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Beta-Ketothiolase Deficiency
Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Weight loss, Thrombocytosis ORPHA:134
Graves Disease
Goiter, Weight loss OMIM:275000
Acrodermatitis Enteropathica
Cheilitis, Glossitis, Furrowed tongue, Blepharitis, Pustule, Failure to thrive, Weight loss, Conj... ORPHA:37
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Anal stenosis, Anorectal anomaly, Cachexia, Anal atr... ORPHA:647
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Acute Adrenal Insufficiency
Hyperkalemia, Normocytic anemia, Hyperuricemia, Recurrent acute respiratory tract infection, Incr... ORPHA:95409
Wild Type Attr Amyloidosis
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Weight loss, Gastrointesti... ORPHA:330001
Huntington Disease-Like 1
Weight loss ORPHA:157941
Chronic Graft Versus Host Disease
Fasciitis, Abnormal esophagus physiology, Elevated circulating hepatic transaminase concentration... ORPHA:99921
Carney-Stratakis Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Dysphagia, We... ORPHA:97286
Infantile Krabbe Disease
Gastroesophageal reflux, Abnormal circulating enzyme concentration or activity, Recurrent infecti... ORPHA:206436
Nephroblastoma
Neoplasm of the liver, Weight loss ORPHA:654
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Recurrent respiratory infections, Cryptorchidism, Supernumerary nipple ORPHA:217346
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Cachexia, High palate, Gastroesophageal reflux OMIM:618186
Marburg Hemorrhagic Fever
Pancreatitis, Increased circulating antibody level, Hypokalemia, Arthritis, Skin rash, Abnormal l... ORPHA:99826
Behçet Disease
Gastrointestinal hemorrhage, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Pancreati... ORPHA:117
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea... ORPHA:79329
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Weight loss ORPHA:100080
Aapoaiv Amyloidosis
Abnormal lung morphology, Elevated circulating creatinine concentration, Hyperlipidemia, Paraprot... ORPHA:439232
Neuroendocrine Tumor Of Stomach
Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Iron ... ORPHA:100075
Glucose-Galactose Malabsorption
Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss ORPHA:35710
Perry Syndrome
Weight loss ORPHA:178509
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hematochezia, Weig... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hematochezia, Weig... ORPHA:100082
Japanese Encephalitis
Pulmonary edema, Increased circulating antibody level, Hyponatremia, Increased circulating IgM le... ORPHA:79139
Dermatomyositis
Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating aldola... ORPHA:221
Pelizaeus-Merzbacher Disease
Cachexia, Recurrent respiratory infections, Failure to thrive in infancy ORPHA:702
Bronchial Neuroendocrine Tumor
Hepatomegaly, Weight loss, Elevated circulating growth hormone concentration, Pneumonia, Hepatic ... ORPHA:97287
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Primary hyperparathyroidi... ORPHA:143
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Anemia, Increased circulating antibody level, Pancyto... ORPHA:77261
Intrahepatic Cholestasis Of Pregnancy
Abnormal circulating interleukin concentration ORPHA:69665
Xfe Progeroid Syndrome
Hypoalbuminemia, Cachexia, Failure to thrive, Elevated circulating hepatic transaminase concentra... OMIM:610965
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Hepatosplenomegaly, Enthes... ORPHA:85408
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Anemia, Bone marrow hypocellularity, Decreased circulating IgG level, Increased circulating IgM l... ORPHA:505248
Trichothiodystrophy 1, Photosensitive
Erythroderma, Decreased circulating IgG level, Keratoconjunctivitis sicca OMIM:601675
Tropical Pancreatitis
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight loss, Pancreatic ... ORPHA:103918
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss, Dysphagia, Intestinal pseudo-obstruction OMIM:607459
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Fanconi Anemia
Aganglionic megacolon, Anemia, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Recurrent ur... ORPHA:84
Aredyld Syndrome
Cachexia, Hepatomegaly, Splenomegaly ORPHA:1133
Granulomatosis With Polyangiitis
Chronic otitis media, Episcleritis, Sinusitis, Keratitis, Weight loss, Conjunctivitis, Granulomat... OMIM:608710
Alström Syndrome
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Re... ORPHA:64
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Decreased circulating IgG level, Acute lymphoblastic leuke... OMIM:223370
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Lynch Syndrome
Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo... ORPHA:144
Oromandibular Dystonia
Dysphagia, Weight loss ORPHA:93958
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased circulating IgA ... OMIM:617062
Tropical Endomyocardial Fibrosis
Hypoalbuminemia, Eosinophilia, Increased circulating interleukin 6 concentration, Splenomegaly ORPHA:75565
Thymic Carcinoma
Weight loss ORPHA:99868
Fatal Familial Insomnia
Dysphagia, Weight loss OMIM:600072
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Weight loss ORPHA:276621
Malt Lymphoma
Recurrent respiratory infections, Anemia, Weight loss, Posterior uveitis ORPHA:52417
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Cysticercosis
Infectious encephalitis, Increased anti-parasite IgE antibody level, Increased circulating antibo... ORPHA:1560
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss, Keratoconjun... ORPHA:309031
Cushing Disease
Acne, Lymphopenia, Leukocytosis, Decreased eosinophil count, Recurrent cutaneous fungal infections ORPHA:96253
Adrenocortical Carcinoma
Increased body weight, Weight loss, Hypokalemia, Adrenocorticotropic hormone deficiency ORPHA:1501
Silver-Russell Syndrome
Gastroesophageal reflux, Cachexia, Decreased testicular size, Obesity, Failure to thrive in infan... ORPHA:813
8P23.1 Microdeletion Syndrome
Obesity, Cryptorchidism, High palate, Weight loss ORPHA:251071
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone... ORPHA:652
Bannayan-Riley-Ruvalcaba Syndrome
Narrow palate, Intestinal polyposis, Cachexia, Hamartomatous polyposis, Abnormal large intestine ... ORPHA:109
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Steatorrhea, Cachexia ORPHA:3217
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l... ORPHA:79102
Liposarcoma
Weight loss ORPHA:69078
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia, Odynophagia ORPHA:221098
Yellow Fever
Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Skin rash, Acute pancreati... ORPHA:99829
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, High palate, Dysphagia, Weight loss OMIM:164310
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Cystinosis, Nephropathic
Hypophosphatemic rickets, Hepatomegaly, Hypokalemia, Reduced blood urea nitrogen, Decreased circu... OMIM:219800
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Testicular microlithiasis, Increased circulating surfactant protein level, Weight l... ORPHA:60025
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate... OMIM:606002
Hereditary Pheochromocytoma-Paraganglioma
Adrenal pheochromocytoma, Hypercalcemia, Extraadrenal pheochromocytoma, Weight loss ORPHA:29072
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Perry Syndrome
Weight loss OMIM:168605
Congenital Fiber-Type Disproportion Myopathy
High palate, Aspiration pneumonia, Failure to thrive, Dysphagia, Weight loss, Recurrent respirato... ORPHA:2020
Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia, Xerostomia, Tongue atrophy ORPHA:803
Mucolipidosis Type Ii
Hepatosplenomegaly, Splenomegaly, Otitis media, Weight loss, Recurrent respiratory infections ORPHA:576
Rett Syndrome
Cachexia, Gastroesophageal reflux OMIM:312750
Juvenile Amyotrophic Lateral Sclerosis
Cachexia, Dysphagia ORPHA:300605
Choreoacanthocytosis
Hepatomegaly, Arthritis, Abnormal erythrocyte enzyme concentration or activity, Elevated circulat... ORPHA:2388
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Short Syndrome
Weight loss ORPHA:3163
Systemic Lupus Erythematosus
Cheilitis, Malar rash, Arthritis, Discoid lupus rash, Thrombocytopenia, Leukopenia, Weight loss, ... ORPHA:536
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Weight loss, Thyroid hyperplasia ORPHA:424
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Cachexia, Obesity, High palate ORPHA:85293
Velocardiofacial Syndrome
Hypocalcemia, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Impaired T cell ... OMIM:192430
Pancreatoblastoma
Jaundice, Pancreatic calcification, Weight loss ORPHA:677
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Erdheim-Chester Disease
Anemia, Skin rash, Weight loss, Retroperitoneal fibrosis, Osteomyelitis ORPHA:35687
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Acne, Decreased eosinophil count, Pheochromocytoma, Increased body weigh... ORPHA:99889
Schwartz-Jampel Syndrome
Elevated circulating aldolase concentration, Cachexia, High palate, Elevated circulating creatine... ORPHA:800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Cachexia, Esophageal varix, Hepatos... ORPHA:2072
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Progeroid Short Stature With Pigmented Nevi
Recurrent viral infections, Impaired T cell function OMIM:176690
Trisomy 18
Narrow palate, Esophageal atresia, Cachexia, Anal atresia, Cleft palate, Cryptorchidism ORPHA:3380
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Weight loss, Neutropenia ORPHA:79430
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Thyroid hyperplasia ORPHA:99819
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis, Hypocalcemic seizures, Hypocalcemia ORPHA:2237
Hereditary Late-Onset Parkinson Disease
Dysphagia, Weight loss ORPHA:411602
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Increased circulating gonadotropin level, Hypokalemia, Abnormal pituita... ORPHA:91347
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Isolated Permanent Neonatal Diabetes Mellitus
Reduced pancreatic beta cells, Pancreatic hypoplasia, Failure to thrive, Weight loss ORPHA:99885
Cockayne Syndrome
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, H... ORPHA:191
Stickler Syndrome
Chronic otitis media, Gastroesophageal reflux, Short hard palate, Cachexia, Glossoptosis, Slender... ORPHA:828
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hypochloremia, Decreased testicular size, Hyponatremia, Failure to thrive, Weight l... ORPHA:90794
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash ORPHA:220295
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia ORPHA:83617
African Trypanosomiasis
Myocarditis, Jaundice, Iritis, Myelitis, Hepatomegaly, Optic neuritis, Abnormal prolactin level, ... ORPHA:3385
Digeorge Syndrome
Recurrent otitis media, Anemia, Atelectasis, Hypocalcemia, Seborrheic dermatitis, Hypoplasia of t... OMIM:188400
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Camurati-Engelmann Disease
Hepatomegaly, Anemia, Elevated circulating aldolase concentration, Cachexia, Slender build, Leuko... ORPHA:1328
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia ORPHA:1969
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, High palate, Ankyloglossia, Osteoarthritis, Weight loss ORPHA:740
Marfan Syndrome
High, narrow palate, Cachexia, Arthralgia/arthritis, Cleft palate, Slender build ORPHA:558
Goodpasture Syndrome
Increased blood urea nitrogen, Anemia, Weight loss, Glomerulonephritis OMIM:233450
Seckel Syndrome
Cachexia ORPHA:808
Proteus Syndrome
Ovarian neoplasm, Testicular neoplasm, Recurrent infections, Cachexia, Enlarged polycystic ovarie... ORPHA:744
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Norrie Disease
Cachexia, Cryptorchidism, Failure to thrive ORPHA:649

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 Il4ra

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 Il4ra.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Il4raem1(IMPC)Wtsi PMC7263671

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
Il4raem1(IMPC)Wtsi Exon Deletion Mice
Il4ratm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Il4ratm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il4ratm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Il4ratm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Il4ratm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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