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Gene: Lpar2 MGI:1858422

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
lysophosphatidic acid receptor 2
Synonyms:
Edg4,  LPA2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lpar2 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 Lpar2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Asthma, Allergic rhinitis OMIM:147050
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Atopic dermatitis, Increased circulating interleukin 6 concentra... OMIM:618944
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... OMIM:617638
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Reduced circul... OMIM:619632
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... OMIM:619773
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Increased circulating IgG level, Re... OMIM:618982
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Immunodeficiency 35
Increased circulating IgE level, Recurrent respiratory infections OMIM:611521
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Chronic oral candidi... OMIM:613953
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Inflammation of the large intestine, Increased circulating IgE ... OMIM:615767
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Recurrent bacterial sk... ORPHA:217390
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Skin rash, Decreased circulating IgA level, Reduced natural kill... OMIM:300400
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Abnormality of humoral immunity, Increased circulating IgE ... ORPHA:277
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Decreased ci... OMIM:619752
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... OMIM:607271
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level, Asthma OMIM:208600
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Eczema, I... OMIM:243700
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... OMIM:178500
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Increased circulating IgE level, Recurrent otitis media, Bronch... OMIM:618523
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis OMIM:616069
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia, Increased circulating antibody level OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, Atopic dermatitis, Increased circulating IgE level, Chronic muc... OMIM:618282
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurrent respiratory infections OMIM:269840
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Decreased circulating I... OMIM:605258
Idiopathic Chronic Eosinophilic Pneumonia
Dyspnea, Atopic dermatitis, Atelectasis, Restrictive ventilatory defect, Hypersensitivity pneumon... ORPHA:2902
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE l... OMIM:147060
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, ... ORPHA:178320
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Complete or near-comple... ORPHA:70593
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... ORPHA:1303
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Aspergillosis
Pleuritis, Dyspnea, Abnormality on pulmonary function testing, Chronic pulmonary obstruction, Cou... ORPHA:1163
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Dyspnea, Increased circulating interleukin 6 conc... ORPHA:70578
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased circulating IgG2 ... OMIM:615513
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Impaired T cell function, Recur... OMIM:607594
Peeling Skin Syndrome 1
Increased circulating IgE level, Asthma, Erythroderma OMIM:270300
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating total IgM, Colitis, Ulcerative colitis,... OMIM:618394
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Thyroiditis, Increased circulating IgE level, Eczema OMIM:618985
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Chronic rhinitis, Recurrent sk... OMIM:256500
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Chronic rhinitis, Decreased nasal nitri... OMIM:618695
Immunodeficiency 62
Decreased circulating total IgM, Reduced isohemagglutinin level, Recurrent lower respiratory trac... OMIM:618459
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Kimura Disease
Increased circulating IgE level ORPHA:482
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Increased circulating IgM level, Increased circulat... OMIM:619220
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, Otitis media OMIM:601457
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating antibody level, Increased circulating IgE... ORPHA:449400
Idiopathic Achalasia
Cough, Bronchitis, Recurrent aspiration pneumonia, Wheezing ORPHA:930
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Increased circulating antibody level, Respiratory insufficienc... ORPHA:723
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Ciliary Dyskinesia, Primary, 39
Cough, Recurrent lower respiratory tract infections, Decreased nasal nitric oxide, Chronic lung d... OMIM:618254
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Chronic pulmonary obstruction, Atrophic gastritis, Recurrent ... OMIM:616576
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... OMIM:615451
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Increased circulating IgE level, Decreased circulati... ORPHA:634
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... OMIM:253240
Immunodeficiency With Hyper-Igm, Type 1
Impaired Ig class switch recombination, Increased circulating IgA level, Stomatitis, Chronic hepa... OMIM:308230
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent oti... OMIM:616726
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... OMIM:619436
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... OMIM:300991
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:613502
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia ORPHA:141152
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... OMIM:615504
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... OMIM:618108
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Recurrent ... OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating antibody level, Increased circulating IgE ... ORPHA:169154
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Re... OMIM:608644
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Reduced isohemagglutinin level... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:613500
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Impaired T cell function, Recurrent otitis media, Recurrent pneu... OMIM:240500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Chronic bronchitis, Decreased circulating IgA level, Decreased c... OMIM:614069
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Cough, Abnormal ciliary motility, Chronic... OMIM:611884
Immunodeficiency 104
Recurrent otitis media, Pneumonia, Eczema, Otitis media, Chronic mucocutaneous candidiasis OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating total IgA, Chronic oral candidiasis, ... ORPHA:169160
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:612692
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Atopic dermatitis, Allergic rhinitis ORPHA:90368
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Inflammatory abnormality of the skin, Decreased circulating IgG2... OMIM:102700
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Immunodeficiency 23
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgM leve... OMIM:615816
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Decreased circulating total IgM, Oligoarthritis, Decreased circ... OMIM:619510
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:619707
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615505
Pgm3-Cdg
Increased circulating IgA level, Chronic otitis media, Recurrent respiratory infections, Chronic ... ORPHA:443811
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Autosomal Dominant Hyper-Ige Syndrome
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Skin rash, Cough, Increased ... ORPHA:2314
Interstitial Lung Disease 1
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... OMIM:619611
Agammaglobulinemia, X-Linked
Decreased circulating total IgM, Enteroviral hepatitis, Bronchiolitis obliterans, Recurrent lower... OMIM:300755
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Impaired nasal mucociliary clearance OMIM:618449
Immunodeficiency 52
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Chronic lung disease OMIM:617514
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Recurrent upper respiratory... OMIM:602450
Immunodeficiency 27A
Abnormal bronchus physiology, Increased circulating IgM level, Increased circulating IgG level, P... OMIM:209950
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Decreased specific anti-polysaccharide antibody level, Increase... OMIM:606367
Mounier-Kühn Syndrome
Recurrent respiratory infections, Bronchitis, Pneumonia, Recurrent bronchopulmonary infections ORPHA:3347
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:612649
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased circulating total IgM, Ulcerative colitis, Decrease... OMIM:614878
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Decreased specific anti-polysaccharide antibody level, Decrease... OMIM:300853
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... OMIM:615482
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Immunodeficiency 102
Decreased circulating total IgM, Chronic sinusitis, Increased circulating interleukin 6 concentra... OMIM:301082
Tularemia
Increased circulating antibody level, Skin rash, Cough, Respiratory distress, Inflammatory abnorm... ORPHA:3392
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:616481
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 64 With Lymphoproliferation
Increased circulating IgA level, Recurrent lower respiratory tract infections, Increased circulat... OMIM:618534
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fibrosis, Bronchiectasis, A... ORPHA:2032
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... OMIM:610910
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615500
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Microlissencephaly
Pneumonia ORPHA:1083
Thrombocytopenia 1
Increased circulating IgA level, Eczema, Epistaxis, Increased circulating IgE level OMIM:313900
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Recurrent respiratory infections, Decreased circul... OMIM:615206
Caffey Disease
Respiratory insufficiency, Increased circulating antibody level ORPHA:1310
Severe Acute Respiratory Syndrome
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... ORPHA:140896
Alpha-1-Antitrypsin Deficiency
Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Panacinar emphysema, Bronchiec... OMIM:613490
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG level, Sinus... OMIM:226990
Immunodeficiency 22
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Decreased circulat... OMIM:615758
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Recurrent respiratory infections, Inflammatory abnormality of the skin, Tu... ORPHA:37042
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level OMIM:614102
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Decreased circulat... OMIM:616100
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Decreased circulating IgG level, Bronchiectasis, ... OMIM:241600
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Chronic... OMIM:617092
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Recurrent respiratory inf... OMIM:612650
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Recurrent lower respiratory tract infections, Decreased specific pneumococcal ... ORPHA:183675
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Increased circulating IgE level, Arthritis, Hepatitis, Eczema, Erythroderma OMIM:304790
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Cough, Chroni... OMIM:613808
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:608647
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di... ORPHA:264675
Myeloma, Multiple
Paraproteinemia OMIM:254500
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:617091
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Decreased circulating total IgM, Inflammation of the large inte... OMIM:614700
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Bronchiectasis, Neonatal asphyxia ORPHA:2375
Immunodeficiency 92
Cholangitis, Partial absence of specific antibody response to tetanus vaccine, Abnormal B cell pr... OMIM:619652
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Immunodeficiency 56
Cholangitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent pneumonia, Bronc... OMIM:615207
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... OMIM:613807
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Abnormality of B cell physiology, Cutaneous anergy, Recurrent lower respiratory tract infections,... OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Skin rash, Cough, Recurrent bacterial skin infections, Decreased c... ORPHA:276
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis ORPHA:411593
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Bronchiectasis, Osteomyelitis, Recurrent upper respirator... OMIM:608184
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis ORPHA:319552
Papa Syndrome
Increased inflammatory response, Increased circulating antibody level, Pustule, Arthritis, Acne, ... ORPHA:69126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Recurrent respiratory infections, Lymphocytic interstitial pneumonia, Inc... OMIM:618495
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Chronic pulmonary obstruction, Partial absence of specific anti... OMIM:618986
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Increased circulating IgE level, Recurrent skin infections, Pso... OMIM:615508
Panbronchiolitis, Diffuse
Wheezing, Cough, Hypoxemia, Bronchiectasis, Rhonchi, Crackles OMIM:604809
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis me... OMIM:614679
Scedosporiosis
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Endocarditis, Arthralgia/arthritis... ORPHA:449280
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic sinusitis, Respiratory insufficiency, Cough, Chronic br... OMIM:616037
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Decreased circulating IgA level, Increased circulating IgM level, Sinusitis, ... OMIM:242860
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Skin rash, Cough, Arthritis, Hepatitis, S... ORPHA:33110
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia OMIM:266265
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Decreas... OMIM:618063
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Recurrent respiratory infections, Decreased circulating antibody level... OMIM:618042
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... ORPHA:540
Complement Factor B Deficiency
Peritonitis, Decreased circulating complement factor B concentration, Pneumonia OMIM:615561
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Lead Poisoning
Abnormal respiratory system physiology, Tubulointerstitial nephritis, Skin rash, Abnormality of h... ORPHA:330015
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Chronic rhinitis, Recurrent l... OMIM:618699
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis, Immotile cilia OMIM:618801
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Inflammation of the large intes... OMIM:301000
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Recurrent respiratory infections, Dyspnea, Aspiration, Cough, Stridor ORPHA:2004
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Immunodeficiency 58
Chronic otitis media, Recurrent respiratory infections, Recurrent cutaneous abscess formation, Ch... OMIM:618131
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Glomerulonephritis, Decreased s... ORPHA:3261
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Adult-Onset Nemaline Myopathy
Paraproteinemia, Respiratory insufficiency due to muscle weakness, Reduced vital capacity ORPHA:171442
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... ORPHA:133
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma ORPHA:1164
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Increased circulating antibody level, Recurrent lower respiratory ... OMIM:615559
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Bronchiecta... OMIM:614017
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Respiratory ... OMIM:615444
Infant Acute Respiratory Distress Syndrome
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... ORPHA:70587
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Pa... OMIM:601495
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 12
Absent isohemagglutinin level, Skin rash, Recurrent aphthous stomatitis, Cheilitis, Recurrent low... OMIM:615468
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pulmonary pneuma... ORPHA:36238
Igg4-Related Kidney Disease
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Increased circulating IgG4 le... ORPHA:449395
Macrophage Activation Syndrome
Increased circulating interferon-gamma concentration, Abnormality of tumor necrosis factor secret... ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Fulminant hepatitis, Reduced natural killer cell activity, Incr... OMIM:308240
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... OMIM:612387
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Bronchiectasis, Crohn's disease... OMIM:619705
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bron... OMIM:604571
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... OMIM:307200
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Si... ORPHA:229717
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Chronic bronchitis, Respiratory insufficiency due to defective ... OMIM:614935
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Ciliary dyskinesia,... OMIM:613193
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Restrictive ventilatory defect, Decreased... ORPHA:1572
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Riddle Syndrome
Bronchitis, Decreased circulating total IgM, Chronic sinusitis, Restrictive ventilatory defect, D... ORPHA:420741
Selective Igm Deficiency
Chronic sinusitis, Decreased specific antibody response to vaccination, Chronic oral candidiasis,... ORPHA:331235
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:542323
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgA level, Recurrent lower respiratory tract infections, Increased circulat... OMIM:616005
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Chronic cough, Bronchiectasis, Ci... OMIM:620197
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Increased circulating antibody level, Increased ci... ORPHA:449432
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Decreased lymphocyte apoptosis, Increased circulating antibody ... OMIM:614470
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Atelectasis, Hypoxemia, Respiratory distre... ORPHA:70588
Good Syndrome
Recurrent respiratory infections, Dyspnea, Cough, Recurrent skin infections, Sinusitis, Bronchiec... ORPHA:169105
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Increased circulating IgE level, Recurrent pneumonia, Decreased ... ORPHA:508533
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... ORPHA:411703
Tempi Syndrome
Increased circulating IgG level, Abnormality of the pulmonary vasculature, Hypoxemia, Transudativ... ORPHA:284227
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Acne inversa, Predominantly dermal neutrophilic i... ORPHA:3243
Igg4-Related Ophthalmic Disease
Cholangitis, Orchitis, Increased circulating IgG4 level, Pancreatitis, Increased circulating IgE ... ORPHA:449563
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Recurrent lower respiratory tract infections, Decreased ci... OMIM:615952
Avian Influenza
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Hepatitis, Respirato... ORPHA:454836
Prolidase Deficiency
Increased circulating antibody level, Chronic lung disease, Recurrent pneumonia, Eczema, Asthma, ... OMIM:170100
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Increased circulating IgG le... ORPHA:83313
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Whim Syndrome
Atelectasis, Severe periodontitis, Lymphadenitis, Respiratory tract infection, Parotitis, Sinusit... ORPHA:51636
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Pyoderma Gangrenosum
Inflammation of the large intestine, Increased circulating antibody level, Pustule, Rheumatoid ar... ORPHA:48104
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... ORPHA:217563
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction OMIM:619223
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic sinusitis, Atelectasis, Chronic rhinitis, Bronchiectasis, Pneumonia... OMIM:244400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Schnitzler Syndrome
Increased circulating IgM level, Arthritis, Skin rash ORPHA:37748
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Reduced delayed hypersensitivity, Recurrent pneumonia, Bronchiectasis, Emp... OMIM:242700
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Bronchogenic Cyst
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneum... ORPHA:2357
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent otitis media, Recurrent pneumonia, Bronc... OMIM:615518
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Skin rash, Increased circulating IgG level, Abnormal circulating... OMIM:618048
Lymphoid Interstitial Pneumonia
Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive ventilatory defect, Ecze... ORPHA:79128
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Recurrent respiratory infections, Malar rash, Skin rash, Myositi... OMIM:615934
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Respiratory fai... ORPHA:2590
Nephronophthisis-Like Nephropathy 2
Cough, Recurrent respiratory infections, Bronchiectasis OMIM:619468
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion, Malar rash, Oligoarthritis, Enthesitis, Skin rash... ORPHA:85436
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... ORPHA:95430
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Rhinorrhea, Chronic rhinitis, Wheezing OMIM:617577
Q Fever
Myocarditis, Cryoglobulinemia, Maculopapular exanthema, Endocarditis, Increased circulating antib... ORPHA:781
Purine Nucleoside Phosphorylase Deficiency
Abnormality of B cell physiology, Recurrent lower respiratory tract infections, Impaired T cell f... OMIM:613179
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgM level, Reduced delayed hypersensitivit... OMIM:601859
Yellow Nail Syndrome
Recurrent respiratory infections, Pleuritis, Dyspnea, Pulmonary arterial hypertension, Cough, Neo... ORPHA:662
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Immunodeficiency 40
Focal active colitis, Respiratory tract infection, Chronic oral candidiasis, Reduced antigen-spec... OMIM:616433
Ebola Hemorrhagic Fever
Dyspnea, Maculopapular exanthema, Increased circulating antibody level, Cough, Hepatitis, Acute p... ORPHA:319218
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... OMIM:300291
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Ulcerative colitis, Cut... ORPHA:555905
Trichinellosis
Increased circulating IgE level, Conjunctivitis, Skin rash ORPHA:863
Cleft Larynx, Posterior
Aspiration OMIM:215800
Melioidosis
Lung abscess, Osteoarthritis, Respiratory tract infection, Parotitis, Hepatitis, Septic arthritis... ORPHA:31202
Fusariosis
Peritonitis, Lung abscess, Maculopapular exanthema, Productive cough, Hypersensitivity pneumoniti... ORPHA:228119
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent sinopulmonary infections, Chronic sinusitis, Wheezing, Neonatal r... ORPHA:244
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Infectious enceph... ORPHA:448237
Lassa Fever
Cough, Dyspnea, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Dyspnea, Inflammation of the large intestine, Abnormality of T c... OMIM:181000
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Abnormal circulating interferon-gamma concentration, Abnormal c... ORPHA:79124
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... ORPHA:91359
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Skin rash, Myositis, Arthritis, Sinusitis, Conjunctivitis, ... OMIM:617591
Autoimmune Hepatitis
Acute hepatitis, Glomerulonephritis, Inflammation of the large intestine, Increased circulating a... ORPHA:2137
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Recurrent aspir... ORPHA:98897
Combined Immunodeficiency Due To Zap70 Deficiency
Stomatitis, Skin rash, Recurrent bacterial skin infections, Lymphadenitis, Colitis, Chronic oral ... ORPHA:911
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Increas... OMIM:617388
Bloom Syndrome
Bronchitis, Decreased circulating total IgM, Chronic pulmonary obstruction, Skin rash, Cheilitis,... ORPHA:125
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Colitis, Recurrent pneumonia, Bronchiectasis, ... OMIM:301220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Bronchial Neuroendocrine Tumor
Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Abnormal pulmonary interstitial morphology... ORPHA:97287
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Chronic otitis media, Eczematoid dermatitis, Atypi... ORPHA:83471
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea OMIM:618253
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Glomerulonephritis, Tachypnea, Skin rash, Myositis, Arthritis, Respirat... ORPHA:36234
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Malar rash, Increased circulating IgM level, Reduced delayed hyp... OMIM:603909
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent aphthous stomatitis, Recurrent skin infections, Per... ORPHA:486
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Stomatitis OMIM:618648
Nocardiosis
Peritonitis, Pleuritis, Productive cough, Respiratory failure, Pneumothorax, Cutaneous abscess, D... ORPHA:31204
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Arthritis, Increased circulating IgM level, Monoclonal i... ORPHA:91139
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Hepatitis, Infectious encep... ORPHA:139402
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Productive cough, Bronchiectasis, Decreased nasal nitric oxide OMIM:615434
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurrent lower respiratory tract i... OMIM:620233
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Postinfectious Vasculitis
Gastrointestinal inflammation, Recurrent streptococcus pneumoniae infections, Increased circulati... ORPHA:48435
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Brucellosis
Myocarditis, Increased circulating IgM level, Sacroiliac arthritis, Pulmonary granulomatosis, End... ORPHA:1304
Coccidioidomycosis
Peritonitis, Morbilliform rash, Skin rash, Cough, Pancreatitis, Arthritis, Increased circulating ... ORPHA:228123
Encephalitis Lethargica
Increased circulating antibody level, Hyperventilation ORPHA:83600
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Aspiration pneumonia, Apnea ORPHA:79264
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Skin rash, Increased circulating IgA level, Panniculitis OMIM:617099
Timothy Syndrome
Bronchitis, Pulmonary arterial hypertension, Pneumonia OMIM:601005
Primary Sjögren Syndrome
Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicca, Usual interstitial pneum... ORPHA:289390
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia ORPHA:314655
Cystic Echinococcosis
Increased circulating antibody level, Pulmonary cyst, Membranous nephropathy, Abnormal subpleural... ORPHA:400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Decreased circulating total IgM, Decreased specific antibody respo... ORPHA:221139
Graft Versus Host Disease
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Stomatitis,... ORPHA:39812
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation ORPHA:204
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Decreased circulating total IgM, Skin rash, Colitis, Decreased circulating total IgA,... OMIM:619381
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Abnormal respiratory system physiology, Respiratory ... ORPHA:98905
Scleromyxedema
Paraproteinemia, Abnormal lung morphology, Exertional dyspnea, Abnormal pulmonary artery morphology ORPHA:167635
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level, Arthritis ORPHA:343
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pleuritis, Dyspnea, Increased circulating interleukin 6 concentration, Acute colitis... ORPHA:544482
Igg4-Related Pachymeningitis
Dyspnea, Increased circulating IgG4 level, Pancreatitis, Lymphadenitis, Parotitis, Sinusitis, Com... ORPHA:449427
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia ORPHA:216866
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Bone marrow hypocellularity, Increased circulating IgM level, R... OMIM:617303
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Aapoaiv Amyloidosis
Paraproteinemia, Abnormal lung morphology, Chronic pulmonary obstruction ORPHA:439232
Microsporidiosis
Peritonitis, Myocarditis, Keratoconjunctivitis, Bronchitis, Cholangitis, Endocarditis, Pancreatit... ORPHA:2552
Aregenerative Anemia
Bone marrow hypocellularity, Dyspnea, Abnormality of interleukin secretion ORPHA:101096
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... OMIM:615067
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Aspiration, Pulmonary arterial hypertension, Atelectasis, Respiratory insufficiency, Intercostal ... ORPHA:258
Angiostrongyliasis
Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ... ORPHA:74
Pulmonary Alveolar Microlithiasis
Bronchitis, Dyspnea, Tachypnea, Subpleural interstitial thickening, Restrictive ventilatory defec... ORPHA:60025
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent infections due to aspiration, Restrictive ventilatory de... ORPHA:70
Gaucher Disease Type 1
Pulmonary arterial hypertension, Osteoarthritis, Increased circulating antibody level, Abnormal p... ORPHA:77259
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Recurrent pneumonia, Pneumonia, Rhinorrhea, Chron... OMIM:158310
Al Amyloidosis
Dyspnea, Increased circulating antibody level, Obstructive sleep apnea, Pulmonary interstitial hi... ORPHA:85443
Poems Syndrome
Pulmonary arterial hypertension, Increased circulating antibody level, Restrictive ventilatory de... ORPHA:2905
Viss Syndrome
Pulmonary arterial hypertension, Dyspnea, Atopic dermatitis, Increased circulating IgE level, Dec... OMIM:619472
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia, Central sleep apnea ORPHA:431361
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level ORPHA:373
Omenn Syndrome
Thyroiditis, Erythroderma, Pneumonia ORPHA:39041
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis... ORPHA:293978
Hyper-Igd Syndrome
Increased circulating IgA level, Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... OMIM:260920
X-Linked Lymphoproliferative Disease
Myocarditis, Recurrent respiratory infections, Pulmonary granulomatosis, Increased circulating Ig... ORPHA:2442
Tay-Sachs Disease
Aspiration OMIM:272800
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Dyspnea, Respiratory failure ORPHA:330021
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Skin rash, Osteoarthritis, Increased circulating IgG level, Pneu... ORPHA:2298
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Alveolar Echinococcosis
Cholangitis, Dyspnea, Increased circulating antibody level, Cough, Pulmonary cyst, Cutaneous abscess ORPHA:284
Cryptococcosis
Peritonitis, Dyspnea, Cough, Respiratory distress, Osteomyelitis, Pneumonia, Pleural effusion, Pr... ORPHA:1546
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea ORPHA:26793
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Skin rash, Recurrent lower respiratory t... OMIM:615846
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Inflammatory abnormality of the skin OMIM:610768
Hemorrhagic Fever-Renal Syndrome
Dyspnea, Glomerulonephritis, Increased circulating interleukin 6 concentration, Tubulointerstitia... ORPHA:340
Japanese Encephalitis
Increased circulating antibody level, Irregular respiration, Respiratory distress, Pulmonary edem... ORPHA:79139
Amyotrophic Lateral Sclerosis 21
Aspiration, Respiratory insufficiency due to muscle weakness OMIM:606070
Multiple Myeloma
Increased circulating IgA level, Pleural effusion, Decreased circulating antibody level, Increase... ORPHA:29073
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Respiratory insufficiency due to muscle weakness ORPHA:600
Zygomycosis
Peritonitis, Myocarditis, Atelectasis, Colitis, Gastritis, Pneumothorax, Epistaxis, Endocarditis,... ORPHA:73263
Leukocyte Adhesion Deficiency
Peritonitis, Glomerulonephritis, Recurrent aphthous stomatitis, Severe periodontitis, Bone marrow... ORPHA:2968
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Listeriosis
Peritonitis, Myocarditis, Endocarditis, Pyelonephritis, Pustule, Respiratory distress, Infectious... ORPHA:533
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Restrictive ventilatory defect, Juvenile rheumatoid arthritis, ... OMIM:607944
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Pulmonary arterial hypertension, Bone marrow hypocellularity, I... ORPHA:505248
Esophageal Atresia
Aspiration, Recurrent respiratory infections, Bronchitis, Chronic pulmonary obstruction, Laryngot... ORPHA:1199
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interface hepatitis, Inflammation of the large intestine, Granulomatous cholangitis, Ulcerative c... ORPHA:562639
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Pneumonia, Increased pulmonary vascular resistance, Ano... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Dyspnea, Airway obstruction, Breathing dysregulation, Pneumonia,... ORPHA:99103
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgA level, Increased circulating interferon-gamma concentration, Erythema n... OMIM:256040
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Obsolete: Arnold-Chiari Malformation Type Ii
Inspiratory stridor, Pneumonia, Apnea ORPHA:1136
Gaucher Disease Type 3
Recurrent respiratory infections, Pulmonary arterial hypertension, Increased circulating antibody... ORPHA:77261
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Cystic Fibrosis
Chronic sinusitis, Decreased forced expiratory flow 25-75%, Pancreatitis, Reduced forced expirato... OMIM:219700
Gaucher Disease, Type Ii
Cough, Apnea, Bronchiolitis, Stridor, Recurrent aspiration pneumonia OMIM:230900
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia ORPHA:1855
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Aspiration, Stridor, Apnea OMIM:614653
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Aspiration OMIM:618922
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Dyspnea, Aspiration pneumonia, Cough, Keratitis, Tracheobronchi... ORPHA:1018
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia, Hypopnea, Restrictive ventilatory defect, Hypoventilation, Apnea OMIM:619482
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Rift Valley Fever
Skin rash, Uveitis, Increased circulating IgM level, Hepatitis, Infectious encephalitis, Increase... ORPHA:319251
Shigellosis
Peritonitis, Myocarditis, Acute colitis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Conju... ORPHA:810
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Oculopharyngodistal Myopathy 1
Aspiration, Hypercapnia, Restrictive ventilatory defect, Respiratory insufficiency due to muscle ... OMIM:164310
Chops Syndrome
Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Sleep apnea, Anomalous pulmonary veno... OMIM:616368
Bickerstaff Brainstem Encephalitis
Hypercapnia, Dyspnea, Respiratory tract infection, Pneumonia, Respiratory failure, Respiratory fa... ORPHA:79138
Primary Biliary Cholangitis
Hepatitis, Gastrointestinal inflammation, Increased circulating IgA level, Increased circulating ... ORPHA:186
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Mevalonic Aciduria
Morbilliform rash, Increased circulating IgD level, Skin rash OMIM:610377
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Skin rash ORPHA:247691
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Pneumonia OMIM:603467
Igg4-Related Thyroid Disease
Thyroiditis, Increased circulating IgG4 level, Sclerosing cholangitis, Hashimoto thyroiditis ORPHA:64744
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Myelitis, Increased circula... ORPHA:297
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Restrictive ventilatory defect, Sleep apnea, Pneumonia, Recurren... OMIM:253200
Developmental And Epileptic Encephalopathy 100
Aspiration, Obstructive sleep apnea, Central sleep apnea, Recurrent respiratory infections OMIM:619777
Shwachman-Diamond Syndrome
Skin rash, Bone marrow hypocellularity, Impaired neutrophil chemotaxis, Sinusitis, Osteomyelitis,... ORPHA:811
Lysinuric Protein Intolerance
Glomerulonephritis, Tubulointerstitial nephritis, Increased circulating antibody level, Respirato... ORPHA:470
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Esophagitis, Obstructive sleep apnea ORPHA:96182
Halperin-Birk Syndrome
Aspiration OMIM:618651
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Bone marrow hypocellularity, Dyspnea, Pulmonary fibrosis OMIM:127550
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Gaucher Disease
Pulmonary arterial hypertension, Increased circulating antibody level, Respiratory insufficiency,... ORPHA:355
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Increased circulating IgG4 level, Tubulointerstitial nephritis, ... ORPHA:79078
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Aspiration pneumonia, Weakness of muscles of respi... ORPHA:2020
Cysticercosis
Infectious encephalitis, Iridocyclitis, Increased circulating antibody level ORPHA:1560
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Opitz Gbbb Syndrome
Aspiration OMIM:300000
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dyspnea, Respiratory distress, Recurrent skin infections, Pneumoni... ORPHA:79404
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Sinusitis, Infectious encephalitis, Pneumonia, Pustule ORPHA:68
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Apnea, Airway obstruction, Obstructive sle... OMIM:602535
Crimean-Congo Hemorrhagic Fever
Myocarditis, Morbilliform rash, Pulmonary arterial hypertension, Orchitis, Diffuse alveolar hemor... ORPHA:99827
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Ogden Syndrome
Aspiration, Pulmonary arterial hypertension, Restrictive ventilatory defect, Pulmonary artery ste... OMIM:300855
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Chronic otitis media, Aspiration pneumonia, Respiratory tract... ORPHA:581
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Keratitis, Inflammatory abnormality of the skin, Skin rash, Cough,... ORPHA:95455
Marburg Hemorrhagic Fever
Orchitis, Maculopapular exanthema, Increased circulating antibody level, Skin rash, Pancreatitis,... ORPHA:99826
Cornelia De Lange Syndrome 1
Otitis media, Pneumonia OMIM:122470
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Alpha-Mannosidosis, Infantile Form
Otitis media, Pneumonia ORPHA:309282
Primary Sclerosing Cholangitis
Pancreatitis, Uveitis, Ulcerative colitis, Hepatitis, Thyroiditis, Pleural effusion, Polyclonal e... ORPHA:171
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Skin rash, Panuveitis, Scleritis, Increased circulating antibody le... ORPHA:91500
Plague
Inflammation of the large intestine, Endocarditis, Skin rash, Lymphadenitis, Arthritis, Respirato... ORPHA:707
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Degcags Syndrome
Pulmonary arterial hypertension, Tracheomalacia, Chronic lung disease, Pneumonia, Rhinitis, Asthma OMIM:619488
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Tracheomalacia, Chronic lung disease, Slee... ORPHA:444077
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Yellow Fever
Increased circulating IgM level, Acute pancreatitis, Increased circulating interleukin 6 concentr... ORPHA:99829
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aspiration, Recurrent respiratory infections, Obstructive sleep apnea, Pneumonia, Asthma, Otitis ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aspiration, Recurrent respiratory infections, Obstructive sleep apnea, Pneumonia, Asthma, Otitis ... ORPHA:353277
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Obstructive sleep apnea, Pneumonia, Asthma, Otitis media ORPHA:353281
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Liver Disease, Severe Congenital
Peritonitis, Status asthmaticus, Cough, Recurrent otitis media, Pulmonary edema, Chronic gastriti... OMIM:619991
Semilobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:220386
Alobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93926
Lobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93924
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Aspiration, Neonatal respiratory distress, Atopic dermatitis, Chronic otitis media, Apnea, Recurr... OMIM:619503
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Respiratory failure ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Central sleep apnea, Hypoventilation, Apnea, Obstructive sleep apnea, Breat... ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia OMIM:264090
Hereditary Sensory And Autonomic Neuropathy Type 4
Abnormality of humoral immunity, Septic arthritis, Osteomyelitis, Recurrent aspiration pneumonia,... ORPHA:642
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Respiratory distress, Aspiration pneumonia, Pericarditis, Impaired neutrophil chemotaxis ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lpar2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lpar2.

No publications found that use IMPC mice or data for Lpar2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lpar2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Lpar2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Lpar2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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