Gene Summary

Name:
colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)
Synonyms:
beta c,  AIC2B,  CDw131,  Il3r,  Il3rb1,  Il5rb,  Csf2rb1,  Bc,  common beta chain

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Csf2rbtm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal eye anterior chamber depth Csf2rbtm2b(EUCOMM)Hmgu HET   Early adult 1.08×10-07
increased eosinophil cell number Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 7.31×10-10
abnormal behavior Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 1.97×10-05
decreased anxiety-related response Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 3.74×10-05
decreased thigmotaxis Csf2rbtm2b(EUCOMM)Hmgu HET Early adult 1.97×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Csf2rb mutations

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

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

The table below shows human diseases associated to Csf2rb by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen le... ORPHA:264675

The table below shows human diseases predicted to be associated to Csf2rb by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Immunodeficiency 53
Recurrent respiratory infections, Recurrent otitis media, Recurrent infections OMIM:617585
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Recurrent bronchitis, Pneumonia, Chronic ora... OMIM:613953
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory... OMIM:610910
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Recurrent infections OMIM:615214
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ... OMIM:615897
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Agammaglobulinemia 1, Autosomal Recessive
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Recurrent candida infec... OMIM:269840
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... OMIM:618806
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... OMIM:610921
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent ... OMIM:613501
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent otitis media, Chronic ... OMIM:613502
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Recurrent infections, Splenomegaly, Recurrent respiratory i... OMIM:226990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to ... OMIM:601457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent i... OMIM:608971
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... OMIM:616022
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea, Interlobular sep... OMIM:265120
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Erythroderma, Recurrent herpes, Pneumonia, Failure to thrive sec... ORPHA:169160
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Recurrent viral infections... ORPHA:217390
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia, Conjunctivitis ORPHA:26137
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Caspase 8 Deficiency
Eczema, Recurrent herpes, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, Bronchiolitis obliterans organizing pneumonia, Recurrent otiti... OMIM:615518
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Pneumonia, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... OMIM:618982
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Abnormal circulating protein concentration, Dec... ORPHA:747
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
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 20
Wheezing, BCGitis, Severe varicella zoster infection, Recurrent viral upper respiratory tract inf... OMIM:615707
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Severe varicella zoster infection, Neutropenia, Chronic bronchitis, Hepatosplenomegaly, P... OMIM:618986
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating antibody level, Recurrent infections, Pneumonia OMIM:614069
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia, Recurrent infections, Recurrent otitis media OMIM:616941
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Chroni... OMIM:615294
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Bronchiectasis, Decreased circulating IgG level, Dec... OMIM:193670
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis ORPHA:3347
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Idiopathic Achalasia
Wheezing, Decreased prealbumin level, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Ciliary Dyskinesia, Primary, 27
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615504
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,... OMIM:612692
Immunodeficiency 46
Sepsis, Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circ... OMIM:616740
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Hepatosplenomegaly, Recurr... OMIM:619126
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Recurrent infections, Chronic ... OMIM:618282
Ciliary Dyskinesia, Primary, 23
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... OMIM:615451
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... ORPHA:1164
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Olig... ORPHA:83471
Interstitial Lung And Liver Disease
Hypoxemia, Thrombocytosis, Respiratory insufficiency, Anemia, Cough, Abnormal pulmonary interstit... OMIM:615486
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Sepsis, Cholangitis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Scedosporiosis
Sinusitis, Sepsis, Abnormal respiratory system physiology, Fungal meningitis, Pleuritis, Septic a... ORPHA:449280
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infection... OMIM:614493
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia, Bronchiectasis, Reduced forced expiratory volume in one second, Recurrent oti... OMIM:619436
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis OMIM:279000
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Isolated Agammaglobulinemia
Sinusitis, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morpholo... ORPHA:229717
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... OMIM:618254
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... ORPHA:572
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Ciliary Dyskinesia, Primary, 28
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615505
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent bacterial infections, Atopic dermatitis, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Impaired T cell function, Decreased circulating IgA level, Recurr... OMIM:240500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... OMIM:150550
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Recurrent infections, Splenomegaly, Increased circulating antibo... OMIM:615285
Slc35A1-Cdg
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... ORPHA:238459
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Anxiety, Eosinophilia OMIM:618092
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Selective Igm Deficiency
Sepsis, Severe varicella zoster infection, Non-infectious meningitis, Recurrent herpes, Neutropen... ORPHA:331235
Cystic Disease Of Lung
Spontaneous neonatal pneumothorax, Recurrent infections, Multiple pulmonary cysts OMIM:219600
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... OMIM:608644
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent bacterial infections, Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Entero... OMIM:307200
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Omenn Syndrome
Recurrent bacterial infections, B lymphocytopenia, Erythroderma, Pneumonia, Recurrent fungal infe... OMIM:603554
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Sepsis, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... ORPHA:231154
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Inflammation of the large intestine, Recurrent infections, Splenomegaly, Uveitis, Decreas... OMIM:614700
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Rhinitis, Respiratory insuff... OMIM:608647
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... OMIM:600802
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent respiratory infections, Recurrent infection of the gas... OMIM:137100
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Neutropenia, Recurrent protozoan... OMIM:209920
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Candidiasis, Familial, 2
Chronic oral candidiasis, Chronic tinea infection, Onychomycosis, Increased circulating IgE level... OMIM:212050
Lysinuric Protein Intolerance
Respiratory insufficiency, Leukopenia, Anemia, Pulmonary hemorrhage, Pancreatitis, Splenomegaly, ... OMIM:222700
Halothane Hepatitis
Eosinophilia OMIM:234350
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Purine Nucleoside Phosphorylase Deficiency
Recurrent bacterial infections, Sinusitis, Recurrent opportunistic infections, Pneumonia, Neutrop... OMIM:613179
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ... OMIM:615207
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Aspergillosis
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Unusual CNS infection, Eosinophilia, Chronic pulmon... ORPHA:1163
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Recurrent infections, Splenomegaly, Increased circulating ant... OMIM:614470
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... OMIM:614172
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent bacterial infections, B lymphocytopenia, Sinusitis, Pneumonia, Decreased circulating Ig... OMIM:102700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Eczema, Psoriasiform dermatitis, Bronchiectasis, Decreased circulating IgA level, Decreas... OMIM:616100
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Chronic otitis media, Recurrent bronchitis, Chronic sinusitis, Bronchiolitis, Emp... OMIM:604571
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Sepsis, Hypoxemia, Leukopenia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural e... ORPHA:36238
Neonatal Alloimmune Neutropenia
Sepsis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Meningitis, Severe infec... ORPHA:464370
Kimura Disease
Eosinophilia ORPHA:482
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... OMIM:619466
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Enteroviral dermat... OMIM:300755
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Autosomal Agammaglobulinemia
Sinusitis, Sepsis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatit... ORPHA:33110
Immunodeficiency 36
Recurrent bacterial infections, Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating... OMIM:616005
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Recurrent viral infections, Recurrent gastroenteritis, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Meningitis, Increased circulating antibody... ORPHA:3392
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Colitis, Decreased circulating antibody level,... OMIM:300635
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... ORPHA:2032
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Nontuberculous mycobacterial pulmonary infection, ... OMIM:619223
Ciliary Dyskinesia, Primary, 26
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Melioidosis
Brain abscess, Abnormality of the spleen, Sepsis, Splenic abscess, Lung abscess, Unusual skin inf... ORPHA:31202
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Pulmonary hemorrhage, Arthriti... OMIM:616414
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level, Recur... OMIM:618523
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Recurrent infections, Decreased circulating total IgM, Splenomegaly OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... ORPHA:3348
Whim Syndrome
Recurrent bacterial infections, Sepsis, Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lympha... ORPHA:51636
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen le... ORPHA:264675
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... OMIM:611884
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... ORPHA:169090
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... OMIM:615482
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Pleuritis, Recurrent infections, Splenomega... ORPHA:47612
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Wells Syndrome
Eosinophilia ORPHA:901
Ciliary Dyskinesia, Primary, 15
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections OMIM:617092
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Eczema, Decreased circulating antibody level, Megaloblastic an... OMIM:617780
Ciliary Dyskinesia, Primary, 43
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... OMIM:618699
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Ciliary Dyskinesia, Primary, 14
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613807
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Aplasia of the thymus, Recurrent upper respiratory tract infections, Otitis media, Pan... OMIM:602450
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D... OMIM:614878
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Decreased ... OMIM:617091
Fusariosis
Brain abscess, Sinusitis, Neutropenia, Fasciitis, Maculopapular exanthema, Unusual CNS infection,... ORPHA:228119
Common Variable Immunodeficiency
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Decreased circulating anti... ORPHA:1572
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Respiratory insufficiency, Leukopenia, Membranous nephropathy, Anem... ORPHA:470
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... ORPHA:90117
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Recurrent respiratory in... OMIM:612650
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Sepsis, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respirator... ORPHA:70587
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia ORPHA:97244
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ab... OMIM:614017
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Acute Lung Injury
Sepsis, Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial mo... ORPHA:178320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Ciliary Dyskinesia, Primary, 22
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615444
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Recurrent ear infections, Recurrent viral infections, Anemia, Pul... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... OMIM:242860
Cinca Syndrome
Leukocytosis, Hepatosplenomegaly, Eosinophilia, Anemia OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Immunodeficiency 58
Eczema, Chronic bronchitis, Chronic otitis media, Decreased circulating antibody level, Recurrent... OMIM:618131
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Abscess, Recurrent infections, Onychomycosis, Splenomegaly, Perianal absce... OMIM:618935
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Transient neutropenia, Recu... OMIM:607676
Ciliary Dyskinesia, Primary, 13
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Recurrent otitis media OMIM:613193
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Neutropenia, Stomatitis, Decreased circulating IgA level,... OMIM:308230
Panbronchiolitis, Diffuse
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Rhonchi, Cough OMIM:604809
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Bronc... OMIM:619446
Avian Influenza
Productive cough, Sepsis, Hypoxemia, Infectious encephalitis, Leukopenia, Pneumonia, Tachypnea, P... ORPHA:454836
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... OMIM:614935
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... OMIM:604173
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Bacterial Toxic-Shock Syndrome
Sinusitis, Sepsis, Myocarditis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a... ORPHA:36234
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent staphylococcal infections, Impaired platelet aggregation, Conjunctiv... ORPHA:2968
Ciliary Dyskinesia, Primary, 17
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respira... OMIM:614679
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233710
Immunodeficiency 23
Eczema, Severe varicella zoster infection, Neutropenia, Allergic rhinitis, Bronchiectasis, Absces... OMIM:615816
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Recurrent urinary... ORPHA:169105
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Impaired lymphocyte transfo... ORPHA:35078
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Splenomegaly, Hypereosinophilia, Corneal neovascu... OMIM:617388
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Bronchiectasis, Chronic otitis media, Rhinitis, Chronic sinusitis,... OMIM:618063
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Eczema, Neutropenia, Tubulointerstitial nephritis, Neutropenia in presence of anti-neutro... ORPHA:37042
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Granulomatous Disease, Chronic, X-Linked
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent E. coli infections, Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Recurrent... OMIM:233690
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Adult Acute Respiratory Distress Syndrome
Sepsis, Hypoxemia, Pneumonia, Pancreatitis, Abnormal blood gas level, Pulmonary edema, Respirator... ORPHA:70578
Omenn Syndrome
Leukocytosis, Sepsis, Erythroderma, Pneumonia, Abnormal lymphocyte morphology, Anemia, Splenomega... ORPHA:39041
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Chronic otitis media, Chronic rhinitis, Bronchiectasis, Chronic ... OMIM:244400
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Reduced hematocrit, Crackles, Bronchiectasi... ORPHA:79126
Bloom Syndrome
Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent herpes, Decreased circ... ORPHA:125
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Nocardiosis
Brain abscess, Sepsis, Pleuritis, Unusual CNS infection, Respiratory failure, Emphysema, Conjunct... ORPHA:31204
Mucoepithelial Dysplasia, Hereditary
Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Corneal neovas... OMIM:158310
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Anemia, Bone marrow hypocellularity, Recurrent infections, Reticulocytope... ORPHA:88
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Bronchogenic Cyst
Chronic infection, Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cys... ORPHA:2357
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Otitis media, Immotile cilia... OMIM:606763
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Pneumonia, Iron deficiency anemia, Decreased circulating antibody level, Recurren... OMIM:226300
Alpha-1-Antitrypsin Deficiency
Hepatitis, Emphysema ORPHA:60
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Q Fever
Myocarditis, Hepatitis, Splenomegaly, Hepatosplenomegaly, Maculopapular exanthema, Infectious enc... ORPHA:781
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Asplenia, Br... ORPHA:244
Timothy Syndrome
Recurrent infections, Pneumonia, Bronchitis OMIM:601005
Riddle Syndrome
Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent viral infe... ORPHA:420741
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Eosinophilia, Erythroderma, Tubulointerstitial nephritis, Interstitial pneumonitis, ... ORPHA:139402
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia ORPHA:2902
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Recurrent infections, Increased circu... ORPHA:634
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Episcleritis, Arthritis, Cough, Splenomegaly, Meningitis, Uveitis... ORPHA:36412
Angiostrongyliasis
Hypereosinophilia, Irritability ORPHA:74
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Neutropenia, Leukemia, Pancytopenia, Bone marrow hypocellularity, Oste... ORPHA:811
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Recurrent infec... ORPHA:39812
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Sepsis, Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Recurrent viral infections... ORPHA:293978
Scleroderma
Anxiety, Hypereosinophilia, Depression, Keratitis ORPHA:801
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Lymphoid Interstitial Pneumonia
Wheezing, Subpleural interstitial thickening, Eczema, Hypoxemia, Keratoconjunctivitis sicca, Crac... ORPHA:79128
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent infections, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis ORPHA:309288
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... ORPHA:662
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Netherton Syndrome
Hypereosinophilia OMIM:256500
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Inflammatory abnormality of the ... ORPHA:48435
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... ORPHA:70588
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Respiratory failure requiring assisted ventilation, Recurrent infections, Recurrent aspir... ORPHA:204
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis OMIM:617577
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Bronchitis, Live... ORPHA:1304
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Microsporidiosis
Brain abscess, Sepsis, Sinusitis, Myocarditis, Cholangitis, Hepatitis, Bronchitis, Infectious enc... ORPHA:2552
Listeriosis
Brain abscess, Sepsis, Myocarditis, Septic arthritis, Unusual CNS infection, Respiratory failure,... ORPHA:533
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, B lymphocytopenia, Psoriasiform dermatitis, Neonatal respiratory ... ORPHA:221139
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Autoimmune Lymphoproliferative Syndrome
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... ORPHA:3261
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Recurrent infections, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating ... OMIM:619381
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Epi... OMIM:608710
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Cystic Echinococcosis
Peritoneal abscess, Abscess, Eosinophilia, Splenic cyst ORPHA:400
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Hypophosphatasia
Emphysema, Anemia, Respiratory insufficiency ORPHA:436
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Recurrent otitis media, Autoimmune thrombocytopenia, Rheumatoid arthritis... OMIM:607944
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Incontinentia Pigmenti
Leukocytosis, Eosinophilia, Cataract, Keratitis OMIM:308300
Coccidioidomycosis
Pleural empyema, Unusual CNS infection, Eosinophilia, Morbilliform rash, Pericarditis, Folliculit... ORPHA:228123
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... ORPHA:2686
Incontinentia Pigmenti
Eosinophilia, Corneal opacity, Cataract, Keratitis ORPHA:464
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Recurre... ORPHA:391487
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Hypoxemia, Inflammation of the large intestine, Bronchiectasis, P... OMIM:181000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased proportion of C... ORPHA:508533
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Mirage Syndrome
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... OMIM:617053
Late-Onset Isolated Acth Deficiency
Macrocytic anemia, Eosinophilia, Normocytic anemia ORPHA:199299
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Spondyloenchondrodysplasia
Pancytopenia, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Autoimmune thrombocytopenia,... ORPHA:1855
Shigellosis
Myocarditis, Leukocytosis, Sepsis, Splenic abscess, Microangiopathic hemolytic anemia, Pneumonia,... ORPHA:810
Cryptococcosis
Sepsis, Pneumonia, Prostatitis, Peritonitis, Lymphoid leukemia, Cough, Osteomyelitis, Meningitis,... ORPHA:1546
Ataxia-Telangiectasia
Sinusitis, Recurrent bronchitis, Decreased circulating IgA level, Leukemia, Defective B cell diff... OMIM:208900
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Recurrent aspir... ORPHA:98897
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Sinusitis, Recurrent bronch... OMIM:251260
Alveolar Echinococcosis
Anemia, Abnormal spleen morphology, Eosinophilia, Cutaneous abscess, Liver abscess ORPHA:284
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Zygomycosis
Brain abscess, Sinusitis, Myocarditis, Neutropenia, Fasciitis, Hepatitis, Gastritis, Infectious e... ORPHA:73263
Bronchial Neuroendocrine Tumor
Wheezing, Pneumonia, Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Nonproduct... ORPHA:97287
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Anemia, Bone marrow hypocellularity, Lymphopenia, Pulmonary fibrosis, T... OMIM:127550
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Eosinophilia OMIM:274000
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Leukocytosis, Myocarditis, Pneumonia, Acute colitis, Pleuritis, Pancreatitis, Sept... ORPHA:544482
Bloom Syndrome
Bronchiectasis, Decreased circulating IgA level, Leukemia, Decreased circulating IgG level, Recur... OMIM:210900
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Fanconi Anemia, Complementation Group F
Pneumonia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Normocytic anemia, Pneumonia, Normochromic anemia, Skin rash ORPHA:247691
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Eosinophilia, Increased circul... ORPHA:449395
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Igg4-Related Pachymeningitis
Eosinophilia ORPHA:449427
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Restrictive ventilatory defect, Increased circulating surfact... ORPHA:60025
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Hennekam-Beemer Syndrome
Mastocytosis, Respiratory insufficiency, Pneumonia ORPHA:2135
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia, Central sleep apnea ORPHA:431361
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Recurrent respiratory infections, Abnormal respiratory system physiology, Pn... ORPHA:98905
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, A... ORPHA:99104
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hypoproteinemia, Pneumonia, Elevated circulating creatine k... ORPHA:26793
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia ORPHA:216866
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Tubulointerstitial nephritis, Pneumonia, Glomerulonephritis, Epistaxis, Anemia, Cou... ORPHA:340
Cushing Disease
Leukocytosis, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Depression, Decre... ORPHA:96253
Insulin-Resistance Syndrome Type B
Pneumonia, Leukopenia, Increased circulating IgA level, Nephritis, Increased circulating IgG leve... ORPHA:2298
Lymphatic Filariasis
Hypereosinophilia ORPHA:2035
Sarcoidosis
Keratoconjunctivitis sicca, Leukopenia, Increased T cell count, Anemia, Cataract, Abnormal conjun... ORPHA:797
Tenorio Syndrome
Keratoconjunctivitis sicca, Apnea, Pneumonia, Stomatitis OMIM:616260
Igg4-Related Ophthalmic Disease
Eosinophilia, Keratitis ORPHA:449563
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia, Pulmonary arterial hypertension, Breathing dysregulati... ORPHA:99103
Geleophysic Dysplasia 3
Respiratory failure, Dyspnea, Sleep apnea, Pneumonia OMIM:617809
Gm1 Gangliosidosis
Infectious encephalitis, Splenomegaly, Hepatosplenomegaly, Recurrent respiratory infections, Aspi... ORPHA:354
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Severe infecti... ORPHA:79138
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumonia, Pustule, Increased red blo... ORPHA:68
Igg4-Related Submandibular Gland Disease
Eosinophilia ORPHA:449432
Cystic Fibrosis
Reduced forced expiratory volume in one second, Bronchiectasis, Decreased forced expiratory flow ... OMIM:219700
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Severe Generalized Junctional Epidermolysis Bullosa
Sepsis, Stridor, Pyoderma, Pneumonia, Pneumothorax, Anemia, Recurrent urinary tract infections, R... ORPHA:79404
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Bronchiectasis, Anemia, Recurrent infections, Acute myeloid leukemia OMIM:601347
Autosomal Recessive Cutis Laxa Type 1
Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pneumothorax, Pyelonephritis, Re... ORPHA:90349
Chops Syndrome
Chronic lung disease, Aspiration pneumonia OMIM:616368
Alpha-Mannosidosis, Infantile Form
Pneumonia, Recurrent infections, Recurrent urinary tract infections, Hepatosplenomegaly, Otitis m... ORPHA:309282
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Keratitis, Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Dyspnea, Asp... ORPHA:1018
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Megaloblastic anemia, Gastritis, Recurrent pneumonia, Emph... OMIM:219721
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Restrictive ventilatory defect, Dyspnea, Rec... ORPHA:538
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Sepsis, Keratoconjunctivitis sicca, Neutropenia, Pneumonia,... ORPHA:95455
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Keutel Syndrome
Sinusitis, Peripheral pulmonary artery stenosis, Recurrent bronchitis, Recurrent otitis media, Pu... OMIM:245150
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Neuroleptic Malignant Syndrome
Leukocytosis, Sepsis, Thrombocytosis, Pulmonary embolism, Thrombocytopenia, Aspiration pneumonia ORPHA:94093
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... OMIM:233450
Degcags Syndrome
Leukopenia, Pneumonia, Iron deficiency anemia, Rhinitis, Congenital hypoplastic anemia, Pulmonary... OMIM:619488
Plague
Sepsis, Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped lip, Arthritis,... ORPHA:707
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Suicidal ideation, Emotional lability, Lymphopenia, Panic attack, Anxiety, Depressi... ORPHA:99889
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Mucopolysaccharidosis Type 3
Obstructive sleep apnea, Chronic otitis media, Recurrent sinopulmonary infections, Splenomegaly, ... ORPHA:581
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Loeys-Dietz Syndrome 4
Eosinophilic infiltration of the esophagus, Pneumothorax, Emphysema OMIM:614816
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Pulmonary edema, Recurrent pneumonia... ORPHA:980
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Tracheomalacia, Emphysema, Pulmonary hypoplasia OMIM:613177
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... ORPHA:2020
Cholera
Tachypnea, Hyperventilation, Aspiration pneumonia ORPHA:173
Viss Syndrome
Hypereosinophilia OMIM:619472
Cornelia De Lange Syndrome 1
Thrombocytopenia, Otitis media, Pneumonia OMIM:122470
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Emphysema, Tracheobronchomalacia OMIM:616835
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Tachypnea, Anemia, Cough, Recurrent urinary tract infections, Respirat... OMIM:613658
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Apnea, Chronic lung disease, Recurrent respiratory inf... ORPHA:397715
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Wheezing, Keratoconjunctivitis sicca, Urinary bladder inflammation, Bro... ORPHA:99921
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Ehlers-Danlos Syndrome, Vascular Type
Pneumothorax, Pulmonary bleb, Anemia, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Repea... OMIM:130050
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Recurrent infections, Aspiration pneumonia ORPHA:1465
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Marshall-Smith Syndrome
Apnea, Recurrent aspiration pneumonia, Obstructive sleep apnea, Pulmonary arterial hypertension OMIM:602535
Ellis Van Creveld Syndrome
Emphysema, Acute leukemia, Aplasia/Hypoplasia of the lungs ORPHA:289
Niemann-Pick Disease Type C
Respiratory insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Abnormal lun... ORPHA:646
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Abscess, Fasciitis, Anemia, Septic arthritis, Osteomyelitis, Toot... ORPHA:642
Fabry Disease
Chronic pulmonary obstruction, Respiratory insufficiency, Anemia, Arthritis, Dyspnea, Emphysema ORPHA:324
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema ORPHA:90348
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Obstructive sleep apnea, Pneumonia, Recurrent urinary tract infections, Otitis media, Asthma, Rec... ORPHA:353281
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Asthma, Sleep apnea, Chronic lung disease, Tracheomalacia, Aspir... ORPHA:444077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Pulmonary arterial hyperten... ORPHA:280633
Neonatal Marfan Syndrome
Neonatal respiratory distress, Hypoxemia, Emphysema