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Gene: Sftpd MGI:109515

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

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 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
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Idiopathic Bronchiectasis
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Productive cough, ... ORPHA:60033
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... OMIM:242700
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells OMIM:618307
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... OMIM:178500
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... OMIM:226990
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocytopenia,... OMIM:607616
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Plasmacytosis, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Sarcoidosis, Susceptibility To, 2
Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit... OMIM:619510
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... OMIM:178550
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Aspergillosis
Sinusitis, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chronic pulmonary obstruction... ORPHA:1163
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Crackles, Increased circulating ferritin concentration, Dyspnea, Hepa... ORPHA:210136
Tuberculosis
Cough, Abnormal lung morphology, Weight loss ORPHA:3389
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Decreased DLCO, B... OMIM:614742
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Hypophosphatasia
Respiratory insufficiency, Emphysema, Failure to thrive in infancy, Anemia ORPHA:436
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight... ORPHA:90060
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Atelectasis, Leukocytosis, Incre... ORPHA:2902
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... OMIM:601457
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... OMIM:617514
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... OMIM:619644
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Failure to thrive, Myositis, Skin rash, Elevated circulating C-... OMIM:615934
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... OMIM:611926
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... OMIM:619767
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... ORPHA:254361
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dys... ORPHA:99931
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... OMIM:616414
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recu... OMIM:300635
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... OMIM:617638
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... OMIM:607594
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C... OMIM:612852
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneum... ORPHA:169160
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... ORPHA:33355
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Erysipelas, Elevated circulating creatine kinase concentration, P... OMIM:615704
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... ORPHA:634
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Pneumocystis carinii pneumonia... OMIM:620321
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Myeloid... OMIM:614743
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Splenomegaly, Dyspnea, Meningitis, Uveitis, Restrictive ventilatory defe... ORPHA:36412
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote... ORPHA:1302
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thrive, Sinus... ORPHA:229717
Riddle Syndrome
Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Recurrent viral infe... ORPHA:420741
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R... OMIM:306400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Failure to thrive, Anisocyto... OMIM:618278
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Nocardiosis
Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, ... ORPHA:31204
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... OMIM:308240
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiecta... OMIM:181000
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce... ORPHA:81
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Absent ... OMIM:620282
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... ORPHA:47
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron... OMIM:618108
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... OMIM:608233
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Interstitial Lung And Liver Disease
Dyspnea, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Res... OMIM:615486
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... OMIM:618165
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... ORPHA:36238
Polymyositis
Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial... ORPHA:732
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Mening... ORPHA:464370
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Failure to thrive, Pulmonary fibr... ORPHA:52047
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent pneumon... OMIM:615122
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Hermansky-Pudlak Syndrome 4
Epistaxis, Absent platelet dense granules, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Dyspnea, Myocarditi... ORPHA:809
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatospleno... OMIM:619013
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Abnormal pulmonary intersti... OMIM:620233
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Neutr... OMIM:613989
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
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
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a... ORPHA:264675
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt... ORPHA:3392
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urina... OMIM:618495
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infection, Nonproductive c... ORPHA:60025
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respiratory insufficiency, R... OMIM:607625
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Impaired T cell function, Pure red cel... OMIM:613179
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Pneumothora... ORPHA:411703
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... OMIM:612444
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... OMIM:619752
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Decreased proportion of class-switched memory B... OMIM:619126
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Recurrent infections, Bronchiectasis, Decreased bod... ORPHA:477814
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi... OMIM:619652
Microlissencephaly
Pneumonia ORPHA:1083
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Pulmonary fibrosis ORPHA:457240
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circul... OMIM:602450
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... OMIM:240500
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula... OMIM:127550
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal pleura morphology, Pust... ORPHA:29207
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Rhin... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Decre... OMIM:613990
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymph... OMIM:242860
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... OMIM:102700
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Abnormal pulmonary i... ORPHA:217563
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Weight loss, Xanth... ORPHA:35687
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Q Fever
Respiratory distress, Cholecystitis, Cough, Meningitis, Infectious encephalitis, Maculopapular ex... ORPHA:781
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, Cheilitis, Recu... OMIM:615468
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Follicular Lymphoma
Splenomegaly, Pleural effusion, Meningitis, Weight loss ORPHA:545
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Anem... OMIM:603552
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... OMIM:300770
Typhoid
Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infectious... ORPHA:99745
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis... ORPHA:3260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... OMIM:615207
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration, Elevated c... ORPHA:93672
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Tachypnea, Abnormal ... OMIM:613658
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... OMIM:620326
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, ... ORPHA:292
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema, Failure to thrive, Abnormal circulating apolipoprotein concentration ORPHA:357074
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Emphysema, Abnormality of the pulmonary artery, Hypertriglyceridemia ORPHA:363618
Bronchial Neuroendocrine Tumor
Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col... ORPHA:37042
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... ORPHA:747
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Spl... ORPHA:829
Hermansky-Pudlak Syndrome
Epistaxis, Dyspnea, Weight loss, Pulmonary fibrosis, Neutropenia ORPHA:79430
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
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
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Overlap Myositis
Elevated circulating creatine kinase concentration, Severe infection, Abnormal pulmonary intersti... ORPHA:206572
Omenn Syndrome
Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Eryt... ORPHA:39041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... OMIM:244400
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic... OMIM:616433
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Small for gestational age, Emphysema, Tracheobronchomalacia, Fa... OMIM:616835
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Weight loss, Thy... ORPHA:139402
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... ORPHA:70578
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Invasive parasitic infection, Eosinophilia, Abscess, Un... ORPHA:400
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology... OMIM:617050
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough... ORPHA:188
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno... ORPHA:221
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In... ORPHA:2314
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... OMIM:619708
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis, Weight loss, Hypoalbuminemia, ... ORPHA:67
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... ORPHA:797
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo... ORPHA:99867
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613807
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto... ORPHA:2070
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia OMIM:224230
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Primary Intestinal Lymphangiectasia
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weight loss, Decrease... ORPHA:90362
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Arthritis, Pulmonary fibrosis, Pulmonary arterial hypertension ORPHA:220393
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial mo... OMIM:230800
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Exertional dyspnea, Weight loss ORPHA:100083
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Chronic infection, Leukoc... ORPHA:520
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pfapa Syndrome
Splenomegaly, Recurrent pharyngitis, Weight loss, Arthritis, Infectious encephalitis ORPHA:42642
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis... ORPHA:171876
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Abnormal lung morphology, We... ORPHA:767
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr... ORPHA:1304
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Dyspnea,... ORPHA:85443
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepa... OMIM:619858
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Failure to thrive, Acute leukemia ORPHA:289
Kaposi Sarcoma
Recurrent herpes, Skin rash, Abnormality of the spleen, Abnormal lung morphology, Weight loss ORPHA:33276
Hermansky-Pudlak Syndrome 1
Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar... OMIM:203300
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho... ORPHA:77259
Immunodeficiency 108 With Autoinflammation
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent absces... OMIM:260570
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He... ORPHA:39812
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke... OMIM:617321
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema, Failure to thrive ORPHA:2962
Melioidosis
Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Unusual skin infection... ORPHA:31202
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... OMIM:618253
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Respiratory insufficiency, Weight loss, Failure to thrive, Anemia ORPHA:1842
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... ORPHA:158048
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Sea-bl... OMIM:257200
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:614162
Wild Type Attr Amyloidosis
Pleural effusion, Weight loss, Abnormal pulmonary interstitial morphology, Pulmonary edema ORPHA:330001
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo... ORPHA:227990
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Anemia ORPHA:100024
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613808
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenome... OMIM:301078
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... ORPHA:90291
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo... ORPHA:227982
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis ORPHA:157991
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Neoplasm of the lung, Strid... ORPHA:142
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... ORPHA:811
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency,... ORPHA:90349
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Abnormal pu... ORPHA:206569
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sinusitis, Perip... OMIM:245150
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... ORPHA:449400
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Fabry Disease
Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Emp... ORPHA:324
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Small for gestational age, Hypoxemia ORPHA:284979
Gaucher Disease
Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Thrombocytope... ORPHA:355
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... ORPHA:289390
Kikuchi-Fujimoto Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Thrombocytopenia, Sple... ORPHA:50918
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hypoplastic anemi... ORPHA:77297
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Pulmonary fibrosis OMIM:612199
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... OMIM:619381
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosino... ORPHA:183
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... ORPHA:98850
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema, Failure to thrive, Small for gestational age OMIM:224690
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly... ORPHA:2072
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... ORPHA:98848
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intraalveolar phosp... OMIM:222700
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Stevens-Johnson Syndrome
Recurrent respiratory infections, Abnormal pleura morphology, Abnormality of neutrophils, Thrombo... ORPHA:36426
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer cell activity, Increased ci... OMIM:603553
Classic Hodgkin Lymphoma
Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Bone marrow hypocellularity, Cough ORPHA:391
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... ORPHA:77261
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Weight loss ORPHA:216866
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Desmoplastic Small Round Cell Tumor
Neoplasm of the lung, Cachexia, Anemia, Weight loss ORPHA:83469
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Sepsis, N... ORPHA:2552
Marfan Syndrome
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,... ORPHA:558
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Sepsis... ORPHA:537
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Restrictive ventilatory defect, Conjunc... OMIM:305000
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein... ORPHA:319213
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Dyspnea, Weight loss, Abnormal spleen m... ORPHA:284
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia, Anemia, E... ORPHA:514
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Rhabdoid Tumor
Thrombocytopenia, Respiratory insufficiency, Anemia, Weight loss ORPHA:69077
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis ORPHA:309288
Takayasu Arteritis
Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm... ORPHA:3287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration OMIM:253700
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Failure to thrive, Psoriasiform d... ORPHA:293978
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... OMIM:267700
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom... ORPHA:533
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Galactose Epimerase Deficiency
Splenomegaly, Weight loss ORPHA:79238
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Autosomal Dominant Cutis Laxa
Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis ORPHA:90348
Whipple Disease
Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Respiratory insufficiency, Uveitis, ... ORPHA:3452
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... ORPHA:26793
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Weight loss, Keratoconjunctivitis, Thrombocytopenia, Per... ORPHA:79242
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Respiratory insufficiency ORPHA:702
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology, Elevated circulating creatine kinase concentration ORPHA:353
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A... OMIM:617053
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Shigellosis
Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Perit... ORPHA:810
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Acute colitis... ORPHA:544482
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Pu... ORPHA:2905
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Failure to thrive in infancy, Secretory IgA deficiency, Recurrent infec... ORPHA:500150
Lysinuric Protein Intolerance
Hypertriglyceridemia, Glomerulonephritis, Increased circulating ferritin concentration, Thrombocy... ORPHA:470
Nephroblastoma
Neoplasm of the lung, Weight loss ORPHA:654
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urina... ORPHA:221139
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... OMIM:612541
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Weight loss,... ORPHA:29073
Hennekam-Beemer Syndrome
Mastocytosis, Failure to thrive, Pneumonia, Respiratory insufficiency ORPHA:2135
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Recurrent bronchitis,... OMIM:208900
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss ORPHA:86893
Huntington Disease-Like 2
Weight loss ORPHA:98934
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Intercostal muscle weakness, Respiratory insufficiency, H... ORPHA:258
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax OMIM:154700
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Emphysema, Failure to thrive ORPHA:2834
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Myocarditis, Abnormal pulmonary int... ORPHA:2331
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Rest... OMIM:607944
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Osteoarthritis... ORPHA:2298
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Gaucher Disease, Type Ii
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspirati... OMIM:230900
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Morbilliform ra... ORPHA:228123
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... ORPHA:324964
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Cardiorespiratory arrest, Erythroderma ORPHA:280785
Griscelli Syndrome Type 2
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia ORPHA:79477
Loeffler Endocarditis
Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough ORPHA:75566
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Cachexia ORPHA:157973
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Severe infection, Increase... OMIM:304790
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia OMIM:603467
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Neutrophilia, Small for gestational age, Severe periodontitis, Re... ORPHA:99843
Viss Syndrome
Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Increased circulating IgE level, Hypere... OMIM:619472
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co... OMIM:617099
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurre... ORPHA:79243
Pseudomyxoma Peritonei
Inflammation of the large intestine, Respiratory insufficiency, Weight loss ORPHA:26790
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Increased c... OMIM:615846
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, In... ORPHA:398063
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo... OMIM:301220
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
H Syndrome
Hypertriglyceridemia, Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyngitis, Bronchie... ORPHA:168569
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronch... ORPHA:391487
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis, Weight loss ORPHA:3337
Ménétrier Disease
Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop... ORPHA:2494
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Solitary Fibrous Tumor
Neoplasm of the lung, Reduced C-peptide level, Neoplasia of the pleura, Weight loss ORPHA:2126
Wolman Disease
Cachexia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Anemia ORPHA:75233
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl... ORPHA:340
Relapsing Fever
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocytopenia,... ORPHA:91547
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating alpha-fetoprotein concentration, Dyspnea, Weight loss, Elevated carcinoembry... ORPHA:100085
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Dyspnea, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephrit... ORPHA:93126
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Weight loss, Arthriti... ORPHA:397
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... OMIM:233450
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... ORPHA:171
Medullary Thyroid Carcinoma
Neoplasm of the lung, Weight loss ORPHA:1332
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Chronic Hiccup
Weight loss ORPHA:396
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Hypertriglyceridemia, Autoimmune thrombocytop... ORPHA:77293
Malt Lymphoma
Recurrent respiratory infections, Posterior uveitis, Anemia, Weight loss ORPHA:52417
Sea-Blue Histiocytosis
Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Aspiration pneum... ORPHA:354
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurrent aphthous s... OMIM:212750
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiec... ORPHA:99921
Thymic Carcinoma
Cough, Dyspnea, Weight loss ORPHA:99868
Wilson Disease
Splenomegaly, Increased body weight, Hepatitis, Weight loss, Anemia, Arthritis, Acute hepatitis, ... ORPHA:905
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia, Elevated circulat... ORPHA:1930
Isaacs Syndrome
Weight loss ORPHA:84142
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,... OMIM:210900
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Recurrent infections, Weight loss ORPHA:704
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Respiratory insufficiency, Cachexia ORPHA:93941
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus... ORPHA:31205
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Dyspnea, Atelectasis, Myocarditis, He... ORPHA:728
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Sple... ORPHA:117
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Weight loss, Recurrent inf... ORPHA:764
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Skin rash, Pneumonia, Sepsis, Normochromic anemia ORPHA:247691
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Riboflavin Transporter Deficiency
Respiratory insufficiency, Cachexia ORPHA:97229
Castleman Disease
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:160
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Malignant Atrophic Papulosis
Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion ORPHA:679
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Malignant Peritoneal Mesothelioma
Dyspnea, Peritonitis, Weight loss ORPHA:168811
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Decreased circulating cortisol level, Failure to thrive, Pneumonia ORPHA:90790
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... ORPHA:824
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest OMIM:168605
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Elevated circulating creatine kinase concentration, Respiratory ... ORPHA:365
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Huntington Disease-Like 2
Weight loss OMIM:606438
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Beta-Ketothiolase Deficiency
Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis ORPHA:134
Bullous Pemphigoid
Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss ORPHA:703
Mulibrey Nanism
Cachexia ORPHA:2576
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased body weight... ORPHA:1501
Acute Adrenal Insufficiency
Normocytic anemia, Decreased circulating cortisol level, Weight loss, Increased circulating renin... ORPHA:95409
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Hypox... ORPHA:199241
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Anemia, Weight loss ORPHA:298
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 25
Failure to thrive, Aspiration pneumonia OMIM:616430
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Recurrent urinary tract infections, Chilblain... OMIM:619487
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Cachexia ORPHA:217346
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia, Exertional dyspnea ORPHA:42
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... OMIM:251260
Juvenile Huntington Disease
Weight loss ORPHA:248111
Hirschsprung Disease
Failure to thrive in infancy, Sepsis, Weight loss ORPHA:388
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmonary arteri... ORPHA:71493
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Polycythemia Vera
Epistaxis, Pulmonary embolism, Splenomegaly, Respiratory insufficiency, Weight loss, Acute leukemia ORPHA:729
Moynahan Syndrome
Cachexia ORPHA:2574
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... ORPHA:647
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, He... ORPHA:275761
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Eosinophilia, Hepatit... ORPHA:199299
Japanese Encephalitis
Respiratory distress, Irregular respiration, Neutrophilia, Meningitis, Increased circulating IgM ... ORPHA:79139
Chops Syndrome
Splenomegaly, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, C... OMIM:616368
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Apnea, Leukocytosis, Tachypnea, Weight loss, Leukopenia, Thrombocytosis, Anemia ORPHA:20
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Chand Syndrome
Atelectasis ORPHA:1401
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, In... ORPHA:68
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Hypoalbuminemia, Weight loss ORPHA:103910
Thymic Neuroendocrine Tumor
Cough, Increased circulating cortisol level, Abnormal breath sound, Weight loss ORPHA:97289
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Peripheral Primitive Neuroectodermal Tumor
Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentration, Weigh... ORPHA:370348
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Failure to thrive, Sea-blue histiocytosis OMIM:230600
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Neuropathy, Congenital Hypomyelinating, 3
Respiratory failure, Respiratory insufficiency, Cachexia OMIM:618186
Mucolipidosis Type Ii
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Splenomegal... ORPHA:576
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Short-Rib Thoracic Dysplasia 12
Splenomegaly, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency OMIM:269860
Osteootohepatoenteric Syndrome
Asthma, Failure to thrive, Anemia, Weight loss OMIM:619377
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration,... ORPHA:90003
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Anemia ORPHA:2930
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Atelectasis, Recurrent pneum... OMIM:188400
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosis, Sepsis, Asp... ORPHA:94093
Mcdonough Syndrome
Cachexia ORPHA:2471
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Secondary Short Bowel Syndrome
Sepsis, Enterocolitis, Weight loss, Steatorrhea, Failure to thrive ORPHA:95427
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Obesity, Weight loss ORPHA:251071
Nodular Non-Suppurative Panniculitis
Splenomegaly, Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Weight loss ORPHA:312
Huntington Disease-Like 1
Weight loss ORPHA:157941
Fatal Familial Insomnia
Apnea, Weight loss OMIM:600072
Christianson Syndrome
Cachexia ORPHA:85278
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Rheumatoid Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Thrombocytopenia OMIM:301072
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, A... ORPHA:95455
Caroli Disease
Liver abscess, Cholangitis, Splenomegaly, Leukocytosis, Weight loss, Abnormal circulating alpha-f... ORPHA:53035
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... ORPHA:309282
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Increased circulating ferritin concentration, Arthritis, Weight loss ORPHA:465508
Benign Recurrent Intrahepatic Cholestasis
Pancreatitis, Weight loss ORPHA:65682
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Hepatosplenomegaly, Ent... ORPHA:85408
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Pneumonia, Elevated circulating alpha-feto... OMIM:619991
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Sotos Syndrome
Acute lymphoblastic leukemia, Small cell lung carcinoma, Chronic otitis media, Pulmonary bleb ORPHA:821
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Atelectasis, Thrombocytopenia, Cheilitis, Respiratory insuffici... ORPHA:534
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Weight loss, Hepatosplenomegaly, Tubuloin... ORPHA:85450
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:253200
Renpenning Syndrome
Cachexia ORPHA:3242
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Atelectasis, Asthma, Abnorma... ORPHA:567
Infantile Krabbe Disease
Respiratory distress, Cachexia, Recurrent infections, Respiratory failure, Failure to thrive ORPHA:206436
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Congenital Tufting Enteropathy
Weight loss, Arthritis, Steatorrhea, Punctate keratitis, Failure to thrive ORPHA:92050
Niemann-Pick Disease, Type C1
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:257220
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Degcags Syndrome
Pancytopenia, Chronic lung disease, Small for gestational age, Pneumonia, Recurrent urinary tract... OMIM:619488
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,... ORPHA:3132
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Tachypnea, Failure to thrive, Recurrent aspiration pneum... ORPHA:397715
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Oculopharyngodistal Myopathy 1
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... OMIM:164310
Budd-Chiari Syndrome
Splenomegaly, Peritonitis, Cholecystitis, Weight loss ORPHA:131
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Bronchospasm, Weight loss ORPHA:100075
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Ele... ORPHA:49041
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... ORPHA:99827
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Rett Syndrome
Apnea, Cachexia, Intermittent hyperventilation OMIM:312750
Neuroendocrine Tumor Of The Colon
Bronchospasm, Weight loss ORPHA:100080
Aredyld Syndrome
Splenomegaly, Cachexia ORPHA:1133
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... ORPHA:581
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Recurrent urinary tract infections, Recurrent infections, W... ORPHA:361
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Osteosarcoma
Weight loss ORPHA:668
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Neuroendocrine Tumor Of The Rectum
Bronchospasm, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bronchospasm, Weight loss ORPHA:100082
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Decreased bod... OMIM:602535
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Meni... ORPHA:707
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anemia OMIM:175500
Cornelia De Lange Syndrome 1
Pneumonia, Thrombocytopenia, Otitis media OMIM:122470
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Tetrasomy 12P
Cachexia ORPHA:884
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Splenomegaly, Hepatosplenomegaly, Pulmonary arterial hypertension, Histiocytosis OMIM:602782
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Respiratory insufficiency, Weight loss OMIM:607459
Grfoma
Neoplasm of the lung, Increased circulating cortisol level, Weight loss ORPHA:97261
Liposarcoma
Weight loss ORPHA:69078
Acrodermatitis Enteropathica
Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis ORPHA:37
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight ... ORPHA:79078
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea ORPHA:309031
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Recurrent aspiration pneumonia OMIM:247200
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Thiamine-responsive megaloblastic anemia... ORPHA:85138
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Small cell lung... ORPHA:99889
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia ORPHA:99027
Vipoma
Respiratory insufficiency due to muscle weakness, Normochromic anemia, Increased circulating cort... ORPHA:97282
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Obesity,... ORPHA:353281
Short Syndrome
Weight loss ORPHA:3163
Glucagonoma
Skin rash, Acanthocytosis, Weight loss, Normochromic anemia, Increased circulating cortisol level... ORPHA:97280
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections ORPHA:1465
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Small for gestational age, Pneumonia, Hyp... OMIM:264090
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Thyrotoxic Periodic Paralysis
Weight loss, Respiratory paralysis, Mildly elevated creatine kinase, Obesity ORPHA:79102
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic l... ORPHA:444077
Alobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Aspiration pneumonia, Failure to thrive, Abnormal pattern of respiration, Chronic ... ORPHA:220386
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Elevated circulating alpha-fetoprotein concentration, Pulmonary arterial hypertension, Blephariti... ORPHA:280633
Familial Pancreatic Carcinoma
Weight loss, Peritoneal abscess, Hepatosplenomegaly ORPHA:1333
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia OMIM:610965
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss ORPHA:276621
Schwartz-Jampel Syndrome
Apnea, Elevated circulating creatine kinase concentration, Cachexia, Respiratory insufficiency, D... ORPHA:800
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... ORPHA:99829
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia ORPHA:79076
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Somatostatinoma
Increased circulating cortisol level, Weight loss, Hypochromic microcytic anemia, Steatorrhea ORPHA:97283
Tropical Endomyocardial Fibrosis
Orthopnea, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegal... ORPHA:75565
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Obesity,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Obesity,... ORPHA:353277
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,... ORPHA:84
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Recurrent Staphylococcus aureus infections, Septic arthritis, ... ORPHA:642
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Proteus Syndrome
Thymus hyperplasia, Cachexia, Pulmonary embolism, Splenomegaly, Abnormal lung lobation, Recurrent... ORPHA:744
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... OMIM:616268
Fontaine Progeroid Syndrome
Small for gestational age, Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Pulmona... OMIM:612289
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Stickler Syndrome
Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende... ORPHA:828
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss ORPHA:100078
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Lynch Syndrome
Weight loss ORPHA:144
Hereditary Pheochromocytoma-Paraganglioma
Weight loss ORPHA:29072
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia, Steatorrhea ORPHA:3217
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia ORPHA:438213
Gallbladder Neuroendocrine Tumor
Cholecystitis, Weight loss ORPHA:100086
Klatskin Tumor
Weight loss ORPHA:99978
Camurati-Engelmann Disease
Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia ORPHA:1328
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu... OMIM:147920
Bannayan-Riley-Ruvalcaba Syndrome
Hashimoto thyroiditis, Cachexia ORPHA:109
Pmm2-Cdg
Respiratory distress, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiratio... ORPHA:79318
African Trypanosomiasis
Pericarditis, Keratitis, Splenomegaly, Myocarditis, Weight loss, Hepatosplenomegaly, Optic neurit... ORPHA:3385
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... ORPHA:2388
Doors Syndrome
Respiratory distress, Thrombocytosis, Aspiration pneumonia ORPHA:79500
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Acne, Weight loss, Hypocapnia, Failure to thrive ORPHA:90794
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Esophagitis, Weight loss ORPHA:913
Tropical Pancreatitis
Chronic calcifying pancreatitis, Weight loss ORPHA:103918
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Cystinosis, Nephropathic
Splenomegaly, Failure to thrive in infancy, Weight loss OMIM:219800
Trisomy 18
Cachexia ORPHA:3380
Ppoma
Increased circulating cortisol level, Weight loss ORPHA:97278
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Upper airway obstruction, Weight loss, Severe failure to thrive, Pulmonary arteri... ORPHA:740
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Parathyroid Carcinoma
Pancreatitis, Weight loss ORPHA:143
Cockayne Syndrome
Splenomegaly, Keratoconjunctivitis sicca, Malar rash, Cachexia ORPHA:191
Seckel Syndrome
Cachexia ORPHA:808
Tsh-Secreting Pituitary Adenoma
Weight loss ORPHA:91347
Multiple Endocrine Neoplasia Type 1
Primary hypercortisolism, Increased circulating cortisol level, Weight loss ORPHA:652
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Yunis-Varon Syndrome
Small for gestational age, Failure to thrive in infancy, Aspiration pneumonia, Severe failure to ... OMIM:216340
Norrie Disease
Failure to thrive, Cachexia ORPHA:649

Histopathology

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

There is no histopathology data for Sftpd

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 Sftpd.

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

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
Sftpdtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sftpdtm180750(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Sftpdtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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