Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
surfactant associated protein D
Synonyms:
Sftp4,  SP-D,  Sfpd

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sftpd 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 Sftpd by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Wheezing, C... OMIM:613490
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Sepsis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, Severe... OMIM:618986
Bare Lymphocyte Syndrome, Type I
Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiectasis, Nasal polyposis OMIM:604571
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C... OMIM:619632
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira... ORPHA:133
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl... OMIM:242700
Interstitial Lung Disease 2
Increased circulating antibody level, Alveolar cell carcinoma, Cough, Decreased DLCO, Usual inter... OMIM:178500
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia, Recurrent respiratory infections OMIM:615206
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Felty Syndrome
Sepsis, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Splenomegaly, Recurrent... ORPHA:47612
Idiopathic Achalasia
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Abnormal n... OMIM:613101
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Abnormal pulmonary interstitial morphology, Decreased DLCO,... OMIM:607616
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Co... OMIM:616371
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Decreased DLCO, Reduced forced vital capacity, Us... OMIM:616373
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomeg... OMIM:612387
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Re... OMIM:619510
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Plasmacytosis, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Immunodeficiency 48
Recurrent candida infections, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Panhypogamm... OMIM:269840
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis, Iron deficien... OMIM:178550
Aspergillosis
Keratitis, Unusual CNS infection, Invasive pulmonary aspergillosis, Abnormality on pulmonary func... ORPHA:1163
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Tuberculosis
Abnormal lung morphology, Weight loss, Cough ORPHA:3389
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Crackles, Abnormal pleura morph... ORPHA:210136
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Recurrent opportunistic infections, B lymphoc... OMIM:601457
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... OMIM:608971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Pulmonary hemorrhage, Panhypogammaglobulinemia, Pancytopenia, Recurren... ORPHA:79124
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Usual interstitial pneumonia, Crackles, Aplastic anemia, Myeloid leukemia, Reticular pattern on p... OMIM:614742
Cystic Hamartoma Of Lung And Kidney
Respiratory insufficiency, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:2111
Hypophosphatasia
Respiratory insufficiency, Anemia, Failure to thrive in infancy, Emphysema ORPHA:436
Scedosporiosis
Unusual CNS infection, Sepsis, Pneumonia, Pericarditis, Arthralgia/arthritis, Respiratory failure... ORPHA:449280
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... OMIM:300400
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomeg... OMIM:618935
Common Variable Immunodeficiency
Lymphopenia, Emphysema, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis m... ORPHA:1572
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Asthma, Decreased circulating IgG level, Recu... OMIM:607271
Diffuse Alveolar Hemorrhage
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Irregular septal thickening on... ORPHA:90060
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... OMIM:619644
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin, Recurrent infections OMIM:235900
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema, Decreased DLCO OMIM:618913
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... OMIM:616022
Acute Interstitial Pneumonia
Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Subpleural... ORPHA:79126
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Lymphopenia, Increased ... OMIM:615934
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Folliculitis, Hemophagocytosis, Splenomega... OMIM:300635
Idiopathic Pulmonary Hemosiderosis
Failure to thrive, Nodular pattern on pulmonary HRCT, Hepatosplenomegaly, Crackles, Reticular pat... ORPHA:99931
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Recurrent infections, Chronic bronchitis, Pneumonia OMIM:614069
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Pulmonary hemorrhage, Hemosiderin-laden ma... OMIM:616414
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Lymphopenia, Decreased circul... ORPHA:169160
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pu... ORPHA:79128
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutr... OMIM:612852
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Reticular Dysgenesis
Failure to thrive, Skin rash, Leukopenia, Sepsis, Chronic otitis media, Abnormality of neutrophil... ORPHA:33355
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... ORPHA:2902
Asbestos Intoxication
Oxygen desaturation on exertion, Interlobular septal thickening, Lung adenocarcinoma, Reduced vit... ORPHA:2302
Netherton Syndrome
Asthma, Skin rash, Eczema, Decreased circulating antibody level, Recurrent infections, Emphysema,... ORPHA:634
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent candida infections, Asthma, Recurrent bacterial skin infections, Onychomycosis, Atopic ... ORPHA:217390
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Pulmonary... OMIM:614743
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... OMIM:619802
Hypocomplementemic Urticarial Vasculitis
Airway obstruction, Skin rash, Splenomegaly, Recurrent bacterial infections, Arthritis, Cough, Me... ORPHA:36412
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased ... OMIM:617241
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herp... OMIM:619220
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:178320
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Sepsis, Abnormal lymphocyte morphology, Ar... ORPHA:229717
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Cryptogenic Organizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:1302
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Elevated circulating creatine kinase concentration, Pulmonary ... ORPHA:254361
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Elevated circulating creatine kinase concentration, Pulmonary fibrosis, Erysipelas OMIM:615704
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... ORPHA:420741
Immunodeficiency 86
Increased circulating IgM level, BCGitis, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... ORPHA:276
Immunodeficiency 14A, Autosomal Dominant
Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,... OMIM:615513
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Nocardiosis
Keratitis, Respiratory distress, Unusual CNS infection, Lymphadenitis, Sepsis, Pneumonia, Pericar... ORPHA:31204
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Elevated bronchoalveolar lavage fluid lympho... OMIM:181000
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Immunodeficiency 32B
Sinusitis, Splenomegaly, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Benign Cephalic Histiocytosis
Histiocytosis, Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... OMIM:616740
Antisynthetase Syndrome
Skin rash, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Myositi... ORPHA:81
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopen... OMIM:618108
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Periodontitis, Chronic oral candidiasis, Recurrent otitis media... OMIM:608233
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
X-Linked Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Sepsis, Chronic otitis media, Arthritis, ... ORPHA:47
Interstitial Lung And Liver Disease
Failure to thrive, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Abnormal p... OMIM:615486
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal lung morphology, Pleural effusi... ORPHA:50251
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis, Pneum... ORPHA:464370
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Polymyositis
Respiratory insufficiency, Elevated circulating creatine kinase concentration, Abnormal pulmonary... ORPHA:732
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Hermansky-Pudlak Syndrome 4
Pulmonary fibrosis, Epistaxis, Restrictive ventilatory defect, Abnormal platelet granules OMIM:614073
Braddock Syndrome
Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Pulmonary fibr... ORPHA:52047
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... OMIM:610978
Lymphoproliferative Syndrome 2
EBV meningitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Sepsis, Aplastic anemia, Seve... OMIM:615122
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Sepsis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic... OMIM:300755
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233710
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Failure to thrive, Decreased circulating IgG level, Leukocytos... OMIM:618278
Omenn Syndrome
Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypo... OMIM:603554
Cystic Fibrosis
Decreased circulating antibody level, Pulmonary fibrosis, Recurrent respiratory infections ORPHA:586
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Restrictive ventil... OMIM:610910
Mixed Connective Tissue Disease
Gastritis, Skin rash, Splenomegaly, Leukopenia, Myositis, Myocarditis, Abnormal pulmonary interst... ORPHA:809
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumoni... OMIM:614700
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, Sp... OMIM:233690
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypertriglyceridemia, Micr... OMIM:619013
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly, Respiratory insufficiency, Intraalveolar phospholipid accumulation, D... OMIM:618042
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Desquamative interstitial pneumonitis, Hepa... OMIM:615952
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Papular Xanthoma
Histiocytosis ORPHA:158008
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... OMIM:306400
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Failure to thrive, Recurrent otitis media, Lymphopenia, Recurrent upper respiratory tract infecti... OMIM:600802
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Weight loss, ... ORPHA:54251
Immunodeficiency 64
Failure to thrive, Decreased circulating IgG level, Increased circulating IgA level, Defective T ... OMIM:618534
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Interlobular septal thickening, Increased pulmonary vascular res... ORPHA:60025
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Autosomal Agammaglobulinemia
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Sepsis, Chroni... ORPHA:33110
Dyskeratosis Congenita, Autosomal Dominant 2
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellul... OMIM:613989
Granulomatosis With Polyangiitis
Pancreatitis, Elevated circulating C-reactive protein concentration, Otitis media, Increased infl... ORPHA:900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Recurrent viral infections, Decreased proportion of CD4+... OMIM:606367
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Elevated carcinoembryonic antigen level, Ac... ORPHA:264675
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Eosinophilia, De... OMIM:243700
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... ORPHA:486
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr... OMIM:616576
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis ... ORPHA:3392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... OMIM:619752
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Weight loss, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613500
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Splenomegaly, Respiratory insufficiency, Neonatal respiratory distress, B... OMIM:607625
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Bone marrow hypocellularity, Ret... ORPHA:3261
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Immunodeficiency 75
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Bronchiectasis, Recurr... OMIM:619126
Cd8 Deficiency, Familial
Recurrent bacterial infections, Bronchiectasis, Recurrent viral infections, Absence of CD8-positi... OMIM:608957
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Mycobacterium abscessus abscessus infection,... ORPHA:411703
Microlissencephaly
Pneumonia ORPHA:1083
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... ORPHA:158057
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abnormal neutrophi... ORPHA:3226
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... OMIM:618282
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tra... OMIM:608184
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Failure to thrive, Apnea, Desquamative interstitial pneumonitis, ... OMIM:265120
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan... OMIM:601495
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell recept... OMIM:602450
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Bone marrow hypocellularity, Anemia, Thro... OMIM:127550
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Pulmonary fibrosis ORPHA:457240
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, T... ORPHA:238459
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... OMIM:209920
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Decreased circulating IgA level, Sinusitis, Chronic bronchitis, T lymphocytope... OMIM:242860
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Cutis Laxa, Autosomal Dominant 1
Bronchiectasis, Dyspnea, Peripheral pulmonary artery stenosis, Emphysema OMIM:123700
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Leishmaniasis
Increased circulating antibody level, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage mor... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Hyp... OMIM:608898
Selective Igm Deficiency
Keratitis, Onychomycosis, Recurrent infection of the gastrointestinal tract, Otitis media, Rheuma... ORPHA:331235
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... ORPHA:90117
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615451
Reactive Arthritis
Osteomyelitis, Conjunctivitis, Pustule, Respiratory insufficiency, Recurrent urinary tract infect... ORPHA:29207
Hereditary Mucoepithelial Dysplasia
Pulmonary fibrosis, Recurrent respiratory infections ORPHA:1839
Q Fever
Respiratory distress, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis, Weight loss,... ORPHA:781
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Scleroderma
Keratitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Myelitis, Myocardit... ORPHA:801
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Weight loss, Pleural... ORPHA:35687
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Sepsis, Pneumonia, H... ORPHA:454836
Fusariosis
Keratitis, Onychomycosis, Unusual CNS infection, Maculopapular exanthema, Pneumonia, Osteomyeliti... ORPHA:228119
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Follicular Lymphoma
Meningitis, Weight loss, Pleural effusion, Splenomegaly ORPHA:545
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress, Small for gestational age OMIM:619057
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Skin rash, Hypertri... OMIM:603552
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Decreased circulating total IgM, Recurrent upper re... OMIM:615139
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Typhoid
Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infectious encephalit... ORPHA:99745
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pancreatitis, Neutrophilia, Eczema, Erythroderma, Colitis, Inflammatory abn... ORPHA:3260
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary artery stenosis, Pulmonary hypoplasia, Emphysema, Tracheomalacia OMIM:613177
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... ORPHA:2442
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Pulmona... OMIM:613990
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Abnormality of the pulmonary artery, Hypercholesterolemia, Emphysema ORPHA:363618
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615504
Loeys-Dietz Syndrome 4
Pneumothorax, Emphysema OMIM:614816
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Lymphadenitis, Recurrent upper respiratory tract infections... ORPHA:51636
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Congenital Enterovirus Infection
Respiratory distress, Leukocytosis, Skin rash, Leukopenia, Sepsis, Myocarditis, Abnormal macropha... ORPHA:292
Granulomatosis With Polyangiitis
Keratitis, Sinusitis, Conjunctivitis, Respiratory insufficiency, Chronic otitis media, Hemosideri... OMIM:608710
Juvenile Dermatomyositis
Elevated circulating C-reactive protein concentration, Skin rash, Elevated circulating creatine k... ORPHA:93672
Brain-Lung-Thyroid Syndrome
Respiratory distress, Failure to thrive, Asthma, Recurrent respiratory infections, Abnormal pulmo... ORPHA:209905
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... OMIM:616005
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Sepsis, Chronic sinusitis, Bone marrow hypoc... ORPHA:443811
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, W... ORPHA:747
Immunodeficiency 58
Onychomycosis, Eczema, Helicobacter pylori infection, Decreased specific antibody response to vac... OMIM:618131
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... ORPHA:829
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Bronchial Neuroendocrine Tumor
Asthma, Increased circulating cortisol level, Nonproductive cough, Bronchospasm, Abnormal pulmona... ORPHA:97287
Rajab Interstitial Lung Disease With Brain Calcifications 1
Slender build, Failure to thrive, Small for gestational age, Respiratory insufficiency, Recurrent... OMIM:613658
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hermansky-Pudlak Syndrome
Neutropenia, Dyspnea, Weight loss, Epistaxis, Pulmonary fibrosis ORPHA:79430
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent gastroenteritis, Gastritis, Eczema, Sepsis, Decreased prealbumin ... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sepsis, Abscess, Myocarditis, Severe viral infection, Pneumonia, Septic art... ORPHA:36234
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:615294
Omenn Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Eosinophilia, Sepsis, Abnormal lymphocyte morpholo... ORPHA:39041
Meier-Gorlin Syndrome 6
Failure to thrive, Small for gestational age, Tracheobronchomalacia, Emphysema, Recurrent respira... OMIM:616835
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... OMIM:616100
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Lymphopenia, Inflammation of the large intestine, Pulmonary hypoplasia, Bronchiectasis, Interstit... OMIM:619708
Hermansky-Pudlak Syndrome 10
Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Neutropenia, Recurrent respirato... OMIM:617050
Lymphangioleiomyomatosis
Chylothorax, Cough, Restrictive ventilatory defect, Emphysema, Pneumothorax, Dyspnea, Pulmonary l... ORPHA:538
Overlap Myositis
Rheumatoid arthritis, Leukopenia, Elevated circulating creatine kinase concentration, Severe infe... ORPHA:206572
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615505
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin ORPHA:542592
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Cough, Weight loss, Hypo... ORPHA:67
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Ne... OMIM:612649
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Airway obstruction, Anomalous pulmonary venous return, Recurr... ORPHA:244
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Weight lo... ORPHA:797
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:70578
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dens... OMIM:214500
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia... ORPHA:3348
Cystic Echinococcosis
Increased circulating antibody level, Asthma, Unusual infection, Multiple pulmonary cysts, Abnorm... ORPHA:400
Dermatomyositis
Lung adenocarcinoma, Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal pulmonar... ORPHA:221
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Bronchiectasis, Impaired nasal mucociliary clearance, Recurrent otitis media OMIM:618449
Systemic Capillary Leak Syndrome
Pancreatitis, Pulmonary edema, Leukocytosis, Myocarditis, Pericarditis, Cough, Rhinorrhea, Pleura... ORPHA:188
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Respiratory insufficiency, Recurrent pneumonia, Emphysema, ... ORPHA:90349
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Cough, He... ORPHA:139402
Ciliary Dyskinesia, Primary, 14
Bronchiectasis, Chronic bronchitis, Otitis media, Wheezing, Cough, Chronic sinusitis, Ciliary dys... OMIM:613807
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease, Meningitis, Pneumonia OMIM:615561
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Thymoma
Rheumatoid arthritis, Aplastic anemia, Neoplasm of the lung, Myositis, Cough, Glomerulonephritis,... ORPHA:99867
Immunodeficiency 23
Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster infection, Increased ci... OMIM:615816
Al Amyloidosis
Increased circulating antibody level, Nonproductive cough, Increased circulating NT-proBNP concen... ORPHA:85443
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Eosinophilic Gastroenteritis
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Steatorrhea, Eosinop... ORPHA:2070
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Neonatal respiratory distress, Bronchiectasis, Recurrent respiratory ... OMIM:300991
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hypoproteinemia, O... ORPHA:90362
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary arterial hypertension, Pulmonary fibrosis, Arthritis ORPHA:220393
Brucellosis
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pulmonary granu... ORPHA:1304
Ciliary Dyskinesia, Primary, 26
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, Sep... ORPHA:231154
Ellis Van Creveld Syndrome
Failure to thrive, Aplasia/Hypoplasia of the lungs, Acute leukemia, Emphysema ORPHA:289
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Pericarditis, Pleuritis, Abnormal lung mor... ORPHA:767
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss, Elevated carcinoembryonic antigen level ORPHA:100083
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Kaposi Sarcoma
Skin rash, Abnormality of the spleen, Recurrent herpes, Abnormal lung morphology, Weight loss ORPHA:33276
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoprolife... OMIM:619858
Pfapa Syndrome
Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephalitis, Weight loss ORPHA:42642
Specific Granule Deficiency 2
Failure to thrive, Recurrent otitis media, Sepsis, Recurrent bacterial infections, Recurrent pneu... OMIM:617475
Acute Promyelocytic Leukemia
Leukocytosis, Chronic infection, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Stomatiti... ORPHA:520
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Thrombocytopenia, Aplastic anemia, Pulmonary fibrosis OMIM:224230
Hermansky-Pudlak Syndrome 1
Colitis, Inflammation of the large intestine, Restrictive ventilatory defect, Epistaxis, Pulmonar... OMIM:203300
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Melioidosis
Splenic abscess, Unusual skin infection, Prostatitis, Osteoarthritis, Sepsis, Brain abscess, Abno... ORPHA:31202
Gaucher Disease, Type I
Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Pancyt... OMIM:230800
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Megaloblastic anemia, Recurrent bronchopulmonary infections, Gastritis, Recurrent pneumonia, Emph... OMIM:219721
Keutel Syndrome
Peripheral pulmonary artery stenosis, Airway obstruction, Sinusitis, Pulmonary artery hypoplasia,... OMIM:245150
Generalized Pseudohypoaldosteronism Type 1
Recurrent upper and lower respiratory tract infections, Osteomyelitis, Pustule, Recurrent tonsill... ORPHA:171876
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuber... OMIM:619223
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Weight loss, Re... ORPHA:98897
Gaucher Disease, Type Ii
Failure to thrive, Apnea, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia OMIM:230900
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Respiratory insufficiency, Weight loss, Anemia, Recurrent respiratory infections ORPHA:1842
Gaucher Disease Type 1
Increased circulating antibody level, Splenomegaly, Leukopenia, Osteoarthritis, Abnormal pulmonar... ORPHA:77259
Yao Syndrome
Asthma, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, P... OMIM:617321
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulatin... OMIM:226300
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Hodgkin Lymphoma
Dyspnea, Weight loss, Cough, Splenomegaly ORPHA:98293
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Pulmonary edema, Abnormal pulmonary interstitial morphology ORPHA:330001
Niemann-Pick Disease, Type A
Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Microcytic anemia, Bone-marrow foam cell... OMIM:257200
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal cytokine signaling, Seve... ORPHA:158048
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respirator... ORPHA:70587
Graft Versus Host Disease
Recurrent gastroenteritis, Failure to thrive, Inflammatory abnormality of the skin, Hemophagocyto... ORPHA:39812
Mu-Heavy Chain Disease
Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Weight loss, Anemia ORPHA:100024
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos... OMIM:301078
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Otitis media, Recurrent skin infections, Re... ORPHA:2686
Ciliary Dyskinesia, Primary, 5
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:608647
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Generalized Eruptive Histiocytosis
Histiocytosis, Maculopapular exanthema, Leukemia, Hypereosinophilia ORPHA:157991
Ciliary Dyskinesia, Primary, 15
Bronchiectasis, Chronic bronchitis, Wheezing, Cough, Chronic sinusitis, Recurrent pneumonia, Cili... OMIM:613808
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:540
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity, Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Systemic Sclerosis
Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase concentration, Abn... ORPHA:90291
Shwachman-Diamond Syndrome
Steatorrhea, Eczema, Sepsis, Aplastic anemia, Macrocytic anemia, Pneumonia, Pancytopenia, Bone ma... ORPHA:811
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary ... ORPHA:227990
Immune-Mediated Necrotizing Myopathy
Skin rash, Elevated circulating creatine kinase concentration, Myositis, Abnormal pulmonary inter... ORPHA:206569
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Neonatal Marfan Syndrome
Neonatal respiratory distress, Hypoxemia, Emphysema ORPHA:284979
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... ORPHA:142
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Recurrent urinary tract infe... ORPHA:169105
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased circulating cortisol level, Severe B lymphocytopenia, Recurrent uppe... ORPHA:293978
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema OMIM:614437
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Lymphocytosis, Pustule, Splenomegaly, Skin... ORPHA:50918
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Lack of T cell function, Lymphopenia, Decreased circulating IgG level, Chroni... ORPHA:35078
Igg4-Related Aortitis
Increased circulating antibody level, Asthma, Elevated circulating C-reactive protein concentrati... ORPHA:449400
Primary Sjögren Syndrome
Airway obstruction, Chronic active hepatitis, Increased circulating antibody level, Abnormal pulm... ORPHA:289390
Fabry Disease
Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emphysema, D... ORPHA:324
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Rheumatoid arthritis, Leukopenia, Autoimmune thrombocytopenia, Abnormal pulmonary ... ORPHA:227982
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Pneumonia, Chronic infection, Dyspnea, Bronchogenic cyst, Pulm... ORPHA:2357
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Postinfectious Vasculitis
Recurrent streptococcus pneumoniae infections, Elevated circulating C-reactive protein concentrat... ORPHA:48435
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss, Arthralgia/arthritis ORPHA:411593
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Elevated circulati... OMIM:301074
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Emphysema, Small for gestational age OMIM:224690
Majeed Syndrome
Failure to thrive, Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Co... ORPHA:77297
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Pulmonary venous occlusion OMIM:265450
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Eosinophilia, Respiratory insu... ORPHA:183
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Chronic rhinitis, Recurrent sinusitis, Recurrent bronchitis, Reduced respiratory ... OMIM:617091
Timothy Syndrome
Bronchitis, Recurrent infections, Pneumonia OMIM:601005
Mast Cell Sarcoma
Weight loss, Mastocytosis, Splenomegaly ORPHA:66661
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Gastritis, B lymphocytopenia, Pneumonia, W... OMIM:619381
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Maculopapular exanthema, Hepatosplenome... ORPHA:98850
Ciliary Dyskinesia, Primary, 22
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615444
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Skin rash, Splenomegaly, Maculopapular exanthema, Mastocytosis, In... ORPHA:98848
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Immotile cilia, Recurrent respiratory infections, Bronchiectasis OMIM:618801
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Splenomegaly, Cachexia, Hepatosplenomegaly, Abnormality of the spleen, Ab... ORPHA:2072
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Apnea, Chronic gastritis, Decreased circulating IgG level, Colitis, Eczema, In... OMIM:608809
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... OMIM:130050
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Failure to thrive, Pancreatitis, Hemophagocytosis, ... OMIM:222700
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Bronchiectasis, Recurrent pneumonia, Recurrent otitis media OMIM:620032
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Recurrent respiratory infections ORPHA:1389
Marfan Syndrome
Slender build, Cachexia, Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneou... ORPHA:558
Gaucher Disease Type 3
Increased circulating antibody level, Splenomegaly, Abnormal pulmonary interstitial morphology, P... ORPHA:77261
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Classic Hodgkin Lymphoma
Skin rash, Splenomegaly, Respiratory insufficiency, Cough, Bone marrow hypocellularity, Weight loss ORPHA:391
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impaired neutrophil ... OMIM:613470
Dyskeratosis Congenita, X-Linked
Blepharitis, Conjunctivitis, Leukopenia, Restrictive ventilatory defect, Pancytopenia, Bone marro... OMIM:305000
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Sepsis, Myocarditis, Pneumonia, Weight loss, Rhinitis, Pr... ORPHA:2552
Stevens-Johnson Syndrome
Pancreatitis, Sepsis, Abnormal pleura morphology, Cough, Abnormality of neutrophils, Weight loss,... ORPHA:36426
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... OMIM:603553
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, ... OMIM:158310
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Weight loss, Neoplasm of the lung ORPHA:83469
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Eosinophilia... ORPHA:284
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss, Cough ORPHA:216866
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Myositis, Arthritis, Fasciitis, Weight loss ORPHA:3165
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections OMIM:617092
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Simple Cryoglobulinemia
Viral hepatitis, Nephritis, Monoclonal elevation of circulating IgA, Membranoproliferative glomer... ORPHA:91139
Toxic Epidermal Necrolysis
Respiratory distress, Pancreatitis, Anemia, Sepsis, Abnormal pleura morphology, Cough, Restrictiv... ORPHA:537
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Rhabdoid Tumor
Weight loss, Anemia, Thrombocytopenia, Respiratory insufficiency ORPHA:69077
Familial Mediterranean Fever
Crohn's disease, Elevated circulating C-reactive protein concentration, Neutrophilia, Elevated ci... OMIM:249100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Exertiona... ORPHA:514
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... OMIM:244400
Listeriosis
Respiratory distress, Unusual CNS infection, Sepsis, Abscess, Myocarditis, Pneumonia, Pericarditi... ORPHA:533
Autosomal Dominant Cutis Laxa
Bronchiectasis, Peripheral pulmonary artery stenosis, Bronchiolitis, Emphysema ORPHA:90348
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Hepatosplenomegaly, Recurrent infections, Pneumonia, Pancytopenia ORPHA:309288
Takayasu Arteritis
Arthritis, Weight loss, Increased inflammatory response, Abnormal pattern of respiration, Anemia,... ORPHA:3287
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Pancreatitis, Lymphadenitis, Chronic sinus... ORPHA:449395
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Recurrent lower respiratory tract... OMIM:618699
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory distress, Rh... OMIM:618063
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Ab... OMIM:614017
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Ciliary dyskinesia, Chronic sinusitis, Bronchiectasis, Recurrent respira... OMIM:614679
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... OMIM:618398
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Sepsis, Recurrent infections, Respiratory failure requiring assis... ORPHA:204
Yellow Nail Syndrome
Sinusitis, Rhinitis, Neoplasm of the lung, Cough, Pleuritis, Bronchiectasis, Dyspnea, Pulmonary a... ORPHA:662
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Failure to thrive, Hemophagocytosis, Splenomegaly, ... OMIM:267700
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections, Cough OMIM:619468
Whipple Disease
Splenomegaly, Cachexia, Respiratory insufficiency, Myositis, Myocarditis, Pericarditis, Arthritis... ORPHA:3452
Galactose Epimerase Deficiency
Weight loss, Splenomegaly ORPHA:79238
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Stomatitis, Recurrent viral infections, Recurrent gastroenteritis OMIM:618648
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Keratoconjunctivitis, Tachypnea, Perioral eczema, Weight loss, Thro... ORPHA:79242
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Hypoproteinemia, ... ORPHA:26793
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Leukocytosis, Ple... ORPHA:544482
Poems Syndrome
Increased circulating antibody level, Polycythemia, Thrombocytosis, Restrictive ventilatory defec... ORPHA:2905
Pelizaeus-Merzbacher Disease
Cachexia, Respiratory insufficiency, Failure to thrive in infancy, Recurrent respiratory infections ORPHA:702
Mirage Syndrome
Decreased body weight, Lymphopenia, Aspiration pneumonia, Leukopenia, Sepsis, Recurrent urinary t... OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Elevated circulating creatine kinase concentration, Abnormal macrophage morphology ORPHA:353
Marfan Syndrome
Pneumothorax, Pulmonary artery dilatation, Emphysema OMIM:154700
Shigellosis
Splenic abscess, Acute colitis, Leukocytosis, Peritonitis, Abscess, Sepsis, Myocarditis, Arthriti... ORPHA:810
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Unilateral lung agenesis, Recurrent in... ORPHA:500150
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... ORPHA:35858
Panbronchiolitis, Diffuse
Rhonchi, Crackles, Wheezing, Cough, Bronchiectasis, Hypoxemia OMIM:604809
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Otitis media, Sepsis, Splenomegaly, Recurrent urinary tract infections, Erythroid hypoplasia, Rec... OMIM:612541
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Abnormal T cell subset distribution, Decre... ORPHA:221139
Insulin-Resistance Syndrome Type B
Decreased body weight, Increased circulating IgA level, Nephritis, Skin rash, Leukopenia, Osteoar... ORPHA:2298
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Weight loss, Hemophagocytosis, Panniculitis ORPHA:86884
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Splenomegaly ORPHA:86893
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... ORPHA:29073
Nephroblastoma
Weight loss, Neoplasm of the lung ORPHA:654
Ataxia-Telangiectasia
Failure to thrive, Decreased circulating IgA level, Sinusitis, Lymphopenia, Decreased circulating... OMIM:208900
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Uveitis, Glomerulone... OMIM:607665
Hennekam-Beemer Syndrome
Failure to thrive, Respiratory insufficiency, Pneumonia, Mastocytosis ORPHA:2135
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... OMIM:606763
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimm... OMIM:607944
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Increased circulating antibody level, Failure to th... ORPHA:470
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Huntington Disease-Like 2
Weight loss ORPHA:98934
Cryptococcosis
Respiratory distress, Osteomyelitis, Prostatitis, Nodular pattern on pulmonary HRCT, Peritonitis,... ORPHA:1546
Coccidioidomycosis
Respiratory distress, Unusual CNS infection, Pancreatitis, Abscess, Pneumonia, Pericarditis, Cocc... ORPHA:228123
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Fanconi Anemia, Complementation Group F
Failure to thrive, Leukopenia, Pneumonia, Bone marrow hypocellularity, Anemia, Thrombocytopenia OMIM:603467
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Viss Syndrome
Failure to thrive, Decreased circulating IgA level, Chronic gastritis, Asthma, Eczema, Atopic der... OMIM:619472
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Failure to thrive, Recurrent gastroenteritis, Abnormal isohemagglutinin level, Neutrop... ORPHA:99843
Loeffler Endocarditis
Eosinophilia, Cough, Pericarditis, Dyspnea, Weight loss ORPHA:75566
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Elevated circulating C-reactive protein concentration, Skin rash, Palmoplantar pus... ORPHA:324964
Autoinflammation, Pannic