Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
regulator of G-protein signaling 3
Synonyms:
PDZ-RGS3,  RGS3S,  4930506N09Rik,  C2pa,  C2PA-RGS3

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Rgs3 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 Rgs3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular hyperplasia, Lym... OMIM:619126
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Increased circulating IgG level, Hepatosplenomegaly, Increased proportion... OMIM:618982
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Pulmonary Nodular Lymphoid Hyperplasia
Cough, Dyspnea, Follicular hyperplasia, Mediastinal lymphadenopathy, Nodular pattern on pulmonary... ORPHA:60026
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media, Lymphadenopathy OMIM:608971
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Decreased specific pneumococcal antibody level, Increased circulating IgM leve... OMIM:615513
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, B lymphocytopenia, Recurrent bronc... OMIM:619164
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased proport... OMIM:615897
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, Recurrent respiratory infections, B lymphocyt... OMIM:233650
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Lymphadenopathy, Inflammatory a... ORPHA:499
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent upper resp... OMIM:615559
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, R... ORPHA:444463
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Decreased CD69 upregulation upon TCR activat... OMIM:300853
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent pneumonia, T lymphocytopenia, Recurrent upper respir... ORPHA:277
Immunodeficiency 32B
Sinusitis, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Immunodeficiency 13
Recurrent otitis media, Recurrent pneumonia, T lymphocytopenia, Recurrent upper respiratory tract... OMIM:615518
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, Otitis... OMIM:601457
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Hepatosplenomegaly, Increased c... OMIM:618534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurre... OMIM:150550
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune h... OMIM:608184
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating antibody... OMIM:618495
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:300400
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 27A
Pneumonia, Increased circulating IgG level, Histiocytosis, Increased circulating IgM level, Throm... OMIM:209950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased specific antibody response to protein-conjugated polysaccharide vaccine, Dec... ORPHA:70593
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Cough ORPHA:99977
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:603909
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Recurrent respiratory infections, De... OMIM:615607
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level OMIM:235550
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Asthma, Recurrent sinusitis, Recurrent respiratory infections, Atop... ORPHA:217390
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Increased circulating IgE level ORPHA:482
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Bronchiectasis, Inflammation of the larg... OMIM:618108
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Abno... OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circula... OMIM:614470
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:240500
Tularemia
Abnormal nasopharyngeal adenoid morphology, Pneumonia, Erythema nodosum, Brain abscess, Inflammat... ORPHA:3392
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Abnormality of the lymph nodes, Pneumonia, Lymphadenitis, Hepatosplenomegaly, Colit... ORPHA:911
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, T lymphocytopenia, Pneumonia, Recurrent upper respiratory tract infection... OMIM:600802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Absent tonsils, Panhypogammaglobulinemia... OMIM:602450
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Recurrent uppe... OMIM:616100
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Hypoxemia, Airway obstruction, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Hypereosinophilia, Increased circulating IgE level, Lymphadenopathy OMIM:212050
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Severe B lymphocytopenia, Erythroderma, Anemia, B lymphocy... OMIM:603554
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Aplasia of the thymus, Eczema... OMIM:242700
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Decreased circulating IgA level... OMIM:608106
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent pneumonia, Eosinophilia, Pneumonia, Decreased proporti... ORPHA:169160
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Ciliar... OMIM:615294
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Recurrent upper respiratory tract infections, Increased circulat... ORPHA:169154
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Mu-Heavy Chain Disease
Splenomegaly, Increased circulating antibody level, Anemia, Abnormal B cell count, Lymphadenopathy ORPHA:100024
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Leukocytosis, Cholangitis, Th... OMIM:619652
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Pneumonia, Increased circ... ORPHA:276
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Art... OMIM:611762
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Bronchiectasis, Recurrent b... OMIM:616726
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia, Transient n... OMIM:619707
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:615451
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Young Syndrome
Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infection... OMIM:279000
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Absent natural killer cells, Histiocytosis, Increa... ORPHA:2442
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased circulating total IgM, Crohn's disease, Decreased circulating IgG level, ... OMIM:618394
Immunodeficiency 68
T lymphocytopenia, Recurrent skin infections, Lymphadenitis, Abnormal natural killer cell count, ... OMIM:612260
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sple... OMIM:618935
Immunodeficiency 55
Eczema, Neutropenia, Recurrent skin infections, Lymphadenopathy OMIM:617827
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Lymphadenopathy, Thrombocytopenia, Conjuncti... OMIM:603552
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Decreased circulatin... OMIM:616576
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Recurrent skin infections, Splenomegaly, Anemia, Abnormality of... OMIM:612840
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased ... OMIM:617718
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Felty Syndrome
Sinusitis, Recurrent pneumonia, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Sple... ORPHA:47612
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent skin infections, Bronchiectasis, Eczema, Recurren... OMIM:618282
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, ... ORPHA:37748
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Mastocytosis, Splenomegaly, Lymphadenopathy ORPHA:66661
Slc35A1-Cdg
Pneumonia, Hypoxemia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutrope... ORPHA:238459
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:1572
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Coombs-positive h... OMIM:601859
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Arthritis, Conjunctivitis OMIM:617772
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasis, Ciliary dyskinesia, R... OMIM:613807
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Inflammation of the large intestine, Recurrent ... OMIM:615767
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Recurrent pneumonia, Reduced FEV1/FVC rat... OMIM:611884
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Lymphadenopathy, Skin rash OMIM:618048
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Immunodeficiency 36
Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Recurrent respiratory infecti... OMIM:616005
Cinca Syndrome
Eosinophilia, Uveitis, Hepatosplenomegaly, Leukocytosis, Anemia, Lymphadenopathy, Arthritis, Skin... OMIM:607115
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating total IgM, Decreased proportion of memory ... OMIM:619510
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Melioidosis
Pneumonia, Parotitis, Cutaneous abscess, Lung abscess, Osteoarthritis, Prostatitis, Splenic absce... ORPHA:31202
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Pneumonia, Hypoxemia, Neut... ORPHA:36238
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent sinusitis, Recurrent respiratory infections, Neonatal respirator... OMIM:300991
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Cough ORPHA:99976
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Bronchiectasis... ORPHA:169105
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Thrombocytopenia, Anemia, B lymphocytope... ORPHA:169079
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Lymphadenopathy, Recurrent pharyngitis, Arthritis ORPHA:42642
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615067
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Uveitis, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, D... OMIM:615122
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia, Reduced red cell aden... OMIM:102700
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Maculopapular exanthema, Splenomegaly, Increased pro... ORPHA:98848
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Abnormality of B cell physiol... OMIM:613179
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tubulointerstitial ... ORPHA:139402
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Decreased proportion of CD8-positive T cells, Incr... OMIM:617241
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Nons... OMIM:619611
Microlissencephaly
Pneumonia ORPHA:1083
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Recurrent skin infections, Pneumonia, Monocytosis, Leukemia, Periodontitis, Acute m... ORPHA:486
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pneumonia, Leukocytosis, Splenomegaly, Thyroiditis,... ORPHA:39041
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Infectious encephalitis, Cough, Osteomyelitis... ORPHA:1163
Immunodeficiency 54
Respiratory failure, Splenomegaly, Recurrent respiratory infections, Lymphadenopathy, Respiratory... OMIM:609981
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Wheezing, Uppe... ORPHA:3348
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Eczema, Lymphadenopathy, Skin rash ORPHA:2584
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic anemia, Autoimmun... OMIM:613011
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Pleural effusion ORPHA:545
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Burkitt Lymphoma
Abnormality of the lymph nodes, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Carcinoma Of Esophagus
Lymphadenopathy, Cough ORPHA:70482
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Recurrent ... ORPHA:183675
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Cough, Dyspnea ORPHA:98293
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes, Abnormal lung morphology, Ab... ORPHA:54251
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency 27B
Osteomyelitis, Generalized lymphadenopathy, Salmonella osteomyelitis OMIM:615978
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Recurrent res... OMIM:615482
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Decreased circul... OMIM:601495
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Bronchiectasis, Atelecta... ORPHA:922
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Increased circulating ant... ORPHA:507
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Pleural effusion, Lymphadenopathy, Pericarditis, Anterior uveitis, Skin rash, Juven... ORPHA:85414
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Increased circulating antibody ... ORPHA:69126
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... OMIM:618523
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Myocardi... ORPHA:829
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Bronchiectasis, Recurrent bronchitis, Ciliary dyskin... OMIM:244400
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Peritonitis, Maculopa... ORPHA:228119
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenopathy OMIM:615895
Thymic Aplasia
Sinusitis, T lymphocytopenia, Recurrent streptococcus pneumoniae infections, Pneumonia, Coombs-po... ORPHA:83471
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Crackles, Usual i... OMIM:614742
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphaden... OMIM:614034
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Recurrent bronchitis, Bronchiectasis, Recurrent s... OMIM:617091
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased mean platelet volume, Sinusitis, Decreased circulating total IgM, Recurrent upper respi... OMIM:600903
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia OMIM:616873
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Chronic otitis media, Chronic sin... OMIM:604571
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100025
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Endocarditi... ORPHA:449280
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abse... ORPHA:79124
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Panhypogammag... OMIM:307200
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Bronchiectasis, Productive cough,... OMIM:618699
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Pan... OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Splenomegaly, Thrombocytopenia, Conjunctivitis, Increased circulating antibo... OMIM:617591
Legionnaires Disease
Restrictive ventilatory defect, Bone marrow hypocellularity, Infectious encephalitis, Endocarditi... ORPHA:549
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, T lymphocy... ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Osteomyelitis, Eczematoid derma... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Osteomyelitis, Eczematoid derma... OMIM:233710
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Autoimmune thrombocytopenia, Au... OMIM:615952
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Increased circulating IgG level, Leukopenia, Paratracheal lymphadenopathy, Thrombocytos... OMIM:615934
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Cough, Lymphadenopathy, Respiratory insufficiency, Ski... ORPHA:391
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough, Bronchiectasis, Neutr... ORPHA:33110
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Roifman Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulat... ORPHA:353298
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Sézary Syndrome
Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Abnormal pleura morphology, Spleno... ORPHA:3162
Mycosis Fungoides
Eczema, Lymphadenopathy, Psoriasiform dermatitis OMIM:254400
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Osteomyelitis, Eczematoid derma... OMIM:233690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent sinusitis... OMIM:613193
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Thr... OMIM:619693
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Exertional dyspnea, Anemia, Acute mon... ORPHA:514
Macrophage Activation Syndrome
Hemophagocytosis, Increased inflammatory response, Splenomegaly, Abnormal natural killer cell cou... ORPHA:158061
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Splenomegaly, Chronic otitis media, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Apnea, Recurrent aspiration pneumonia OMIM:230900
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Roifman Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Splenomegaly, Eczema, Lymphadenopathy OMIM:616651
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Respiratory tract infection, Atelectasis, N... ORPHA:70587
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Chronic lung disease ORPHA:97290
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Avian Influenza
Nonproductive cough, Pneumonia, Leukopenia, Hypoxemia, Infectious encephalitis, Tachypnea, Respir... ORPHA:454836
Mixed Connective Tissue Disease
Myositis, Leukopenia, Arthritis, Myocarditis, Splenomegaly, Dyspnea, Pulmonary arterial hypertens... ORPHA:809
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Chronic lung disease ORPHA:319487
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Scrub Typhus
Restrictive ventilatory defect, Infectious encephalitis, Splenomegaly, Myocarditis, Cough, Dyspne... ORPHA:83317
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Cough, Pleural effusion, Atelec... OMIM:306400
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Maculopa... ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Panniculitis, Lymphadenopathy OMIM:619183
Graft Versus Host Disease
Myositis, Pneumonia, Hepatosplenomegaly, Gastrointestinal inflammation, Inflammatory abnormality ... ORPHA:39812
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Erythroderma, Abnormality of the spleen, Lymphadenopathy, Lymphocyto... ORPHA:79456
Q Fever
Pneumonia, Hepatosplenomegaly, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, M... ORPHA:781
Thyroid Lymphoma
Hashimoto thyroiditis, Dyspnea, Stridor, Upper airway obstruction, Lymphadenopathy, Respiratory d... ORPHA:97285
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Pneumonia ORPHA:319552
Cinca Syndrome
Uveitis, Leukocytosis, Inflammatory abnormality of the eye, Splenomegaly, Abnormality of neutroph... ORPHA:1451
Brucellosis
Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess, Hypersplenism, Thrombocytop... ORPHA:1304
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Inflammatory abnormality ... ORPHA:36412
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Increased circulating IgA level, Neutrophilia, S... OMIM:260920
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Anomalous pulmonary venous return, ... ORPHA:244
Yellow Nail Syndrome
Sinusitis, Hypoplasia of lymphatic vessels, Cough, Bronchiectasis, Dyspnea, Rhinitis, Neoplasm of... ORPHA:662
Pseudomyxoma Peritonei
Respiratory insufficiency, Lymphadenopathy, Inflammation of the large intestine ORPHA:26790
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Diffuse alveo... ORPHA:199241
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly, Anemia, Lymphadenop... ORPHA:824
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Microsporidiosis
Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis, Pancrea... ORPHA:2552
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Diffuse alveolar hemorrhage, Neutropenia, Anemia, Product... ORPHA:520
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Recurrent upper respiratory tract infections, C... OMIM:618131
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Decreased circulating total IgG, Anemia, Hepatitis, Reduced natural kille... OMIM:619381
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Chronic noninfectious lymphadenopathy ORPHA:100083
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Tachypnea, Hepatitis, Fasciitis, Thrombocytopenia, Skin ra... ORPHA:36234
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Decreased circulating antibody level, Abno... ORPHA:381
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, T lymphocytopenia, Pneumonia, Restrictive ventilatory defect, Autoimmune ... OMIM:607944
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Cholangitis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615207
American Trypanosomiasis
Infectious encephalitis, Splenomegaly, Myocarditis, Cough, Dyspnea, Lymphadenopathy, Skin rash ORPHA:3386
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Pancreatitis, Abnormal blood gas level, Pulmo... ORPHA:70578
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Rhabdoid Tumor
Anemia, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy ORPHA:69077
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Lymphadenopathy ORPHA:79477
Nocardiosis
Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysema, Infectious ence... ORPHA:31204
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... ORPHA:420741
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Pleural effusion, Dyspnea, Malar rash, Nephritis, Discoid lupus rash, Lymph... ORPHA:93552
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Leukocytosis, Arthritis, Orchitis, Peritonitis, Splenomegaly, Lymp... ORPHA:32960
Familial Hemophagocytic Lymphohistiocytosis
Reduced natural killer cell activity, Hemophagocytosis, Colitis, Infectious encephalitis, Maculop... ORPHA:540
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Congenital Toxoplasmosis
Anemia, Thrombocytopenia, Lymphadenopathy ORPHA:858
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Uveitis, Pneumonia, Acute myelo... ORPHA:125
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Keratoconjunc... OMIM:158310
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Kikuchi-Fujimoto Disease
Leukopenia, Myocarditis, Splenomegaly, Pleural effusion, Cervical lymphadenopathy, Neutropenia, A... ORPHA:50918
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Abnormal pulmonary interstitial morphology, Dyspnea, Chro... ORPHA:97287
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Kaposi Sarcoma
Abnormal lung morphology, Generalized lymphadenopathy, Abnormality of the spleen, Skin rash ORPHA:33276
Anaplastic Thyroid Carcinoma
Cough, Dyspnea, Neoplasm of the lung, Stridor, Upper airway obstruction, Lymphadenopathy, Respira... ORPHA:142
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Otitis media, Abnormality of neu... ORPHA:2968
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the lung, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Lymphatic Filariasis
Restrictive ventilatory defect, Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, ... ORPHA:2035
Coccidioidomycosis
Pleural empyema, Pancreatitis, Skin rash, Cough, Osteomyelitis, Granuloma, Pericarditis, Arthriti... ORPHA:228123
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Bronchiolitis, Interstitial pneumonitis, Decreased circulating I... OMIM:614878
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Recurrent otitis media, Recurrent pneumonia, Recurrent upper resp... ORPHA:293978
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Leukopenia, Erythema nodosum, Hepatosplenomegaly, Leukocyto... OMIM:615688
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Asthma, Bronchiec... OMIM:615816
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Shigellosis
Uveitis, Pneumonia, Leukocytosis, Arthritis, Microangiopathic hemolytic anemia, Peritonitis, Myoc... ORPHA:810
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, T lymphocytopenia, Leukemia, Defective B cell differe... OMIM:208900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pneumonia, Thrombocytosis, Pulmonary embolism, Decreased circulating antibody level, Iron deficie... OMIM:226300
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthritis, Pleuriti... OMIM:142680
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Splenomegaly, Spontaneous... OMIM:214500
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Uveitis, Hypoxemia, Abnormality of T cell physiology, Iridocyclitis, Abnormal pulmo... OMIM:181000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Malt Lymphoma
Posterior uveitis, Anemia, Recurrent respiratory infections, Lymphadenopathy, Mediastinal lymphad... ORPHA:52417
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Lympha... OMIM:257200
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Listeriosis
Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Infectious encephalitis, Myocarditis, O... ORPHA:533
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Cough, Pleural effusion, Lymphoid leukemia, Dyspnea, Osteomy... ORPHA:1546
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Pneumonia ORPHA:309288
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Primary Sjögren Syndrome
Optic neuritis, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, Arteritis... ORPHA:289390
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Morbil... OMIM:610377
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocyto... OMIM:603553
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Castleman Disease
Generalized lymphadenopathy, Cough, Dyspnea, Anemia, Follicular hyperplasia, Lymphadenopathy, Dec... ORPHA:160
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Interstitial pneumonitis, Thrombocytopenia, Anemia, Pulmonary fibros... OMIM:127550
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Shwachman-Diamond Syndrome
Pancytopenia, Sinusitis, Pneumonia, Impaired neutrophil chemotaxis, Leukopenia, Normocytic anemia... ORPHA:811
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Melkersson-Rosenthal Syndrome
Cheilitis, Lymphadenopathy, Inflammatory abnormality of the skin ORPHA:2483
Zygomycosis
Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Infectious encephalitis, Myocardi... ORPHA:73263
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Uveitis, Hip osteoarthritis, Hepatosplenomegaly, Knee osteoarthritis, Iridocyclitis, Oligoarthrit... ORPHA:85408
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Infectious encephalitis, Splenomegaly, Anemia, Lymphadenopathy, Thr... OMIM:267700
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormality of the skin, Pancreatiti... ORPHA:449395
Lig4 Syndrome
Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia ORPHA:99812
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Inflammatory abnormality of the skin, Pancreatitis, Throm... ORPHA:3260
Fanconi Anemia, Complementation Group F
Leukopenia, Bone marrow hypocellularity, Pneumonia, Anemia, Thrombocytopenia OMIM:603467
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Lymphopenia, Aspiration pneumonia, Thrombocytopenia OMIM:617053
Nijmegen Breakage Syndrome
Sinusitis, Recurrent pneumonia, T lymphocytopenia, Dysgammaglobulinemia, Autoimmune hemolytic ane... OMIM:251260
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Periodontitis, Spleno... ORPHA:167
Spondyloenchondrodysplasia
Pancytopenia, Pneumonia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Granuloma, Hep... ORPHA:1855
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Infectious encephalitis, Autoim... ORPHA:391487
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... ORPHA:221139
Sarcoidosis
Uveitis, Increased T cell count, Maculopapular exanthema, Anemia, Thrombocytopenia, Emphysema, Le... ORPHA:797
Meige Disease
Recurrent skin infections, Absence of lymph node germinal center, Pleural effusion, Recurrent bac... ORPHA:90186
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Chronic rhinitis, Bronchiectasis, Psoriasif... ORPHA:168569
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Peritonitis, Recurrent aphthous stomatitis, Lymphadenopathy, Art... ORPHA:343
Nephroblastoma
Neoplasm of the lung, Lymphadenopathy ORPHA:654
Waldenström Macroglobulinemia
Monoclonal immunoglobulin M proteinemia, Leukemia, Normocytic anemia, Splenomegaly, Pleural effus... ORPHA:33226
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Tubulointerstitial nephritis, Anemia, Lymphadenopathy, Abnormality of the lym... ORPHA:85450
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Lymphadenopathy ORPHA:424019
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Poems Syndrome
Restrictive ventilatory defect, Thrombocytosis, Pleural effusion, Increased circulating antibody ... ORPHA:2905
Farber Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Atelectasis, Anemia, Lymphadeno... ORPHA:333
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Leukocytosis, Myocarditis, Acute colitis, Respiratory tract infection, Dyspnea, Pleura... ORPHA:544482
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Familial Mediterranean Fever
Erysipelas, Orchitis, Peritonitis, Osteoarthritis, Pancreatitis, Splenomegaly, Lymphadenopathy, P... ORPHA:342
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Orchitis, Increased circulating IgG4 level, Prostatitis, Th... ORPHA:449563
Behçet Disease
Optic neuritis, Myositis, Arthritis, Orchitis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Thymic Neuroendocrine Tumor
Abnormal breath sound, Cough, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Medi... ORPHA:97289
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Pneumonia, Normocytic anemia, Skin rash ORPHA:247691
Medullary Thyroid Carcinoma
Neoplasm of the lung, Lymphadenopathy ORPHA:1332
Kawasaki Disease
Leukocytosis, Arthritis, Cholecystitis, Myocarditis, Cervical lymphadenopathy, Cheilitis, Hepatit... ORPHA:2331
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Hennekam Syndrome
Erysipelas, Chylothorax, Lymphangioma, Splenomegaly, Decreased circulating antibody level, Pulmon... ORPHA:2136
Gm1 Gangliosidosis
Hepatosplenomegaly, Infectious encephalitis, Splenomegaly, Recurrent respiratory infections, Aspi... ORPHA:354
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Pneumonia, Leukocytosis, Glomerulonephritis, Tubulointerstiti... ORPHA:340
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Cystic Fibrosis
Recurrent pneumonia, Hepatosplenomegaly, Reduced forced expiratory volume in one second, Asthma, ... OMIM:219700
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating IgG4 level, Pro... ORPHA:449432
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Restrictive ventilatory defect, Pulmonary lymphangiomyomatosis, Cough, Dy... ORPHA:538
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Tenorio Syndrome
Apnea, Keratoconjunctivitis sicca, Stomatitis, Pneumonia OMIM:616260
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Pneumonia, Leukopenia, Increased circulating IgA level, Osteoart... ORPHA:2298
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Autosomal Recessive Malignant Osteopetrosis
Chronic rhinitis, Splenomegaly, Pulmonary arterial hypertension, Anemia, Recurrent respiratory in... ORPHA:667
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Epididymitis, Thrombocytopenia, Conjunctivitis, Leukopenia, Neutrophilia, Myocardit... ORPHA:99827
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Respiratory distress, Inflammatory abnormality of the skin ORPHA:26793
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Splenomegaly, Cervical lymphadenopathy, Episcleritis, Pulmonar... OMIM:602782
Postinfectious Vasculitis
Viral hepatitis, Recurrent streptococcus pneumoniae infections, Pneumonia, Gastrointestinal infla... ORPHA:48435
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Blau Syndrome
Erythema nodosum, Posterior uveitis, Splenomegaly, Iridocyclitis, Dyspnea, Retrobulbar optic neur... ORPHA:90340
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Plague
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Splenomegaly, Inflammation ... ORPHA:707
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Infectious encephalitis, Respiratory tract infection, Increased red blood c... ORPHA:68
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Nonproductive cough, Uveitis, Leukopenia, Orchitis, Maculopapular... ORPHA:99826
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Recurrent upper respiratory tract infections, Increase... OMIM:256040
Mucopolysaccharidosis Type 3
Adenoiditis, Splenomegaly, Respiratory tract infection, Recurrent tonsillitis, Obstructive sleep ... ORPHA:581
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Carney Triad
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Leptospirosis
Optic neuritis, Uveitis, Pulmonary hemorrhage, Cough, Pleural effusion, Hepatitis, Lymphadenopath... ORPHA:509
Chikungunya
Erythema nodosum, Infectious encephalitis, Maculopapular exanthema, Cervical lymphadenopathy, Syn... ORPHA:324625
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hypertension, Exe... ORPHA:99104
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Thrombocytopenia, Pleural effusion, Cervica... OMIM:619573
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Asp... ORPHA:1018
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Airway obstruction, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arteri... ORPHA:99103
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Malakoplakia
Urinary bladder inflammation, Orchitis, Cough, Follicular hyperplasia, Inflammatory abnormality o... ORPHA:556
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Pulmonary embolism, Aspiration pneumonia, Thrombocytopenia ORPHA:94093
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Pneumonia, Otitis media ORPHA:309282
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Multiple pulmonary cysts, Anemia, Lymphadenopathy, Polysplenia OMIM:619418
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgM level, Increased circulating IgA level, Increased circulating... ORPHA:79078
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Respiratory failure, Dyspnea... ORPHA:79404
Degcags Syndrome
Pancytopenia, Pneumonia, Hepatosplenomegaly, Congenital hypoplastic anemia, Leukopenia, Asthma, T... OMIM:619488
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly, Peritoneal abscess ORPHA:1333
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory failure, ... ORPHA:79138
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media, Thrombocytopenia OMIM:122470
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Pulmonary arterial hypertension... OMIM:602535
Gallbladder Neuroendocrine Tumor
Cholecystitis, Chronic noninfectious lymphadenopathy ORPHA:100086
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Bronchospasm, Lymphadenopathy, Increased hematocrit ORPHA:100076
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Niemann-Pick Disease Type C
Hepatosplenomegaly, Abnormal lung morphology, Respiratory failure, Splenomegaly, Bone-marrow foam... ORPHA:646
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100077
Cushing Syndrome Due To Ectopic Acth Secretion
Recurrent cutaneous fungal infections, Leukocytosis, Decreased eosinophil count, Acne, Neoplasm o... ORPHA:99889
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Adenocarcinoma Of The Anal Canal
Neoplasm of the lung, Lymphadenopathy ORPHA:424016
African Trypanosomiasis
Optic neuritis, Hepatosplenomegaly, Iritis, Myocarditis, Splenomegaly, Lymphadenopathy, Pericardi... ORPHA:3385
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Asthma, Sleep apnea, Pulmonary arterial hypertension, Chronic lung disease, Aspir... ORPHA:444077
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis media ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4
Tooth abscess, Abscess, Osteomyelitis, Anemia, Fasciitis, Septic arthritis, Recurrent aspiration ... ORPHA:642
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumonia, Peripheral pulmonar... ORPHA:280633
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Anemia, Obstructive sleep apnea, Breathing dysregulation, A... ORPHA:438213
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis ... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Otitis ... ORPHA:353284
Semilobar Holoprosencephaly