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Gene: Hck MGI:96052

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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:
hemopoietic cell kinase
Synonyms:
Bmk,  Hck-1

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 Hck mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmona... OMIM:613490
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... OMIM:178500
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Elevated circulating C-reactive protein concentratio... ORPHA:2902
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... OMIM:619773
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertri... OMIM:607616
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
Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pul... OMIM:612387
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea, Plasmacytosis, Cough ORPHA:60026
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle... ORPHA:79126
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Abnormal pleura morphology, Portal hypertension, Crackles, Increas... ORPHA:210136
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Aspergillosis
Sinusitis, Diffuse reticular or finely nodular infiltrations, Neutropenia, Cough, Infectious ence... ORPHA:1163
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Pulmonary... OMIM:178550
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit... OMIM:617638
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Pulmonary ... ORPHA:724
Fanconi Renotubular Syndrome 5
Decreased DLCO, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung a... OMIM:618913
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Myelodysplasia, Dyspnea, Anemia, Decreased DLCO, Pulmona... OMIM:614742
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Pulmonary infiltrates, Anemia OMIM:131400
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Epidermodysplasia Verruciformis, Susceptibility To, 4
Disseminated cutaneous warts, Burkitt lymphoma, Stomatitis, Emphysema, Increased proportion of ex... OMIM:618307
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... ORPHA:254361
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Renal cell carcinoma, Pulmonary sequestration, Parathyroid adenom... ORPHA:122
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... OMIM:616414
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase... ORPHA:90060
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough ORPHA:64741
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Portal hypertension OMIM:210050
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Riddle Syndrome
Decreased circulating IgG level, Pulmonary fibrosis OMIM:611943
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol... ORPHA:99931
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenom... ORPHA:169160
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma ORPHA:141152
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Myelodysplasia, Thrombocytopenia, Squamous cell carcinoma of the skin, Pulmo... OMIM:620365
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Decreased circulating tota... OMIM:619510
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Hypophosphatasia
Anemia, Emphysema, Hypercalcemia, Respiratory insufficiency ORPHA:436
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Restrictive ventilatory defect,... OMIM:615704
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... OMIM:147060
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent pneumonia, Bronchiolitis obliterans organizing pneumonia,... OMIM:615518
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Felty Syndrome
Episcleritis, Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pericarditis, Recurrent ... ORPHA:47612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Restrictive ventilatory defec... OMIM:619767
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... OMIM:611926
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immo... OMIM:244400
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Leukemia, Myeloid... OMIM:614743
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... OMIM:615486
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... OMIM:612444
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Lymphoma, Uveitis, Pleural effusion... ORPHA:36412
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ... ORPHA:139402
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronc... OMIM:620233
Cystic Echinococcosis
Elevated hepatic transaminase, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Abnormal p... ORPHA:400
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a... ORPHA:264675
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... ORPHA:634
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopen... OMIM:608971
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote... ORPHA:1302
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti... OMIM:615934
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... ORPHA:36238
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... ORPHA:3261
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating creatine kinase conce... ORPHA:81
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... ORPHA:2314
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... ORPHA:217390
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte... ORPHA:95430
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Skin r... ORPHA:331206
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Elevated total serum tryptase, Leukemia, Histiocytosis ORPHA:157991
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder OMIM:607685
Tularemia
Respiratory distress, Brain abscess, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneu... ORPHA:3392
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Polymyositis
Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonar... ORPHA:732
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating ... OMIM:612852
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, B-cell lymphoma, Autoimmune thrombocytopenia, ... OMIM:102700
Sarcoidosis, Susceptibility To, 1
Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepatomegaly, Bronchiectasis, Pul... OMIM:181000
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... ORPHA:353298
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respi... OMIM:602450
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I... OMIM:256500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Low cholesterol esterificati... OMIM:607625
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm... ORPHA:77260
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, ... OMIM:618278
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr... OMIM:618165
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Recurrent otitis media, Respiratory distress OMIM:615993
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Abnormal pulmonary inters... OMIM:619013
Riddle Syndrome
Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Neonatal asphyxia, R... ORPHA:420741
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ecz... OMIM:615816
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Hermansky-Pudlak Syndrome 4
Epistaxis, Absent platelet dense granules, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... OMIM:618459
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Immunodeficiency 7
Recurrent respiratory infections, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypere... OMIM:615387
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit... OMIM:265120
Mixed Connective Tissue Disease
Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolytic anemia, Splenomegaly, Dyspn... ORPHA:809
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Erythro... ORPHA:39041
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Nasal polyposis, Recurrent intrapulmonary h... ORPHA:183
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Decreased circulating antibody l... ORPHA:397596
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma ORPHA:166113
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... OMIM:617241
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Lymphangioleiomyomatosis
Recurrent respiratory infections, Renal neoplasm, Ungual fibroma, Retinal hamartoma, Atelectasis,... ORPHA:538
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis ORPHA:52047
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... OMIM:601859
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Roifman Syndrome
Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media OMIM:616651
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurrent sin... OMIM:620282
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis,... OMIM:127550
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Gastrointestinal ... ORPHA:221
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... ORPHA:333
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... OMIM:620326
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Pulmonary infiltrates, Abn... ORPHA:70578
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De... ORPHA:90045
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Air crescent sign, Neutropenia, Brain ... ORPHA:228119
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... OMIM:616037
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Maculopapular exanthema, Skin rash, Elevated... ORPHA:319213
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
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
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimm... OMIM:603909
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Lung abscess, Decreased specific antibody resp... OMIM:241600
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Myelodysplas... ORPHA:3260
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary infiltrates, Arthritis, Pulmonary fibrosis, Pulmonary arterial hypertension ORPHA:220393
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Alveolar Echinococcosis
Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Dyspnea, Jaundice,... ORPHA:284
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Lymphoma, Bronchiectasis, Decreased proportion of class-switche... OMIM:619126
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis ORPHA:457240
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectas... OMIM:240500
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... ORPHA:797
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... ORPHA:2686
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Thrombocytopenia, Ab... OMIM:230800
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Neonatal Alloimmune Neutropenia
Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Typhoid
Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou... ORPHA:99745
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infect... OMIM:300635
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... ORPHA:98848
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Rec... OMIM:619752
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... OMIM:614935
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Pulmonary fibrosis, Bone marrow hypocellularity, Decre... OMIM:613990
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Pulmonary venous occlusion, Centrilobular ground-glass opacifica... OMIM:265450
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the skeletal system, Dyspnea, Upper airway obstruction, Neoplas... ORPHA:142
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Asthma, L... ORPHA:2070
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Elevated circulating creatinine concentration, Pulmonary hypoplasia... OMIM:616733
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neutropenia,... ORPHA:73263
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Nonproductive cough, Dyspnea, Asthma, Wheezing, Abnormal pulmonary inter... ORPHA:97287
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Pulmonary fibrosis, Bone marrow hypocellularity, Neutr... OMIM:613989
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... ORPHA:449400
Q Fever
Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Hepatomegaly, Maculopapular ... ORPHA:781
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis OMIM:260570
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirub... ORPHA:673
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... ORPHA:228123
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus OMIM:614816
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... ORPHA:93672
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Orthop... ORPHA:365
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... OMIM:613470
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cough, Tachypnea, Abnormal pulm... OMIM:613658
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Severe X-Linked Mitochondrial Encephalomyopathy
Increased serum pyruvate, Respiratory distress, Respiratory insufficiency ORPHA:238329
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Basal cell carci... ORPHA:363618
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola... ORPHA:747
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... ORPHA:728
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... ORPHA:2414
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Hemolytic an... OMIM:606367
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Myelodysplas... ORPHA:98849
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Myelodysplasia, Autoimmune thrombocytopenia, Impaired... OMIM:608184
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... OMIM:619708
Hermansky-Pudlak Syndrome 1
Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar... OMIM:203300
Overlap Myositis
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal pulmo... ORPHA:206572
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... ORPHA:308552
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Gingival fibromatosis ORPHA:1832
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Throm... ORPHA:292
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I... ORPHA:37042
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis ORPHA:243
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... ORPHA:29207
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema, Abnormal circulating apolipoprotein concentration ORPHA:357074
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Highly elevated creatine kinas... ORPHA:258
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosi... OMIM:618999
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis... ORPHA:35687
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... OMIM:300770
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Infectious encephalitis, Cough ORPHA:99825
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia OMIM:224230
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic... OMIM:242860
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:620197
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... OMIM:614399
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Increased circulating guanosine ... OMIM:613179
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c... ORPHA:85443
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... ORPHA:449563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis, Elevated circulating creatine kinase concentration OMIM:253600
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmo... ORPHA:330012
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Myocarditis, Abnormal pu... ORPHA:206569
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... ORPHA:90291
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Loeffler Endocarditis
Pericarditis, Eosinophilia, Dyspnea, Cough, Left ventricular hypertrophy ORPHA:75566
Adrenocortical Carcinoma
Adrenocortical carcinoma, Hypokalemia, Lung adenocarcinoma ORPHA:1501
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Respiratory distress, Respirat... OMIM:613561
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Elevated circulating creatinine concentration, Bronchiectasis, ... OMIM:619468
Hermansky-Pudlak Syndrome
Epistaxis, Dyspnea, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis... ORPHA:79430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal pulmonary interstitial morphology, Elevated circulating alkaline phosphata... ORPHA:330001
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Decreased... ORPHA:254864
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma ORPHA:280785
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocytopenia, Abnorm... ORPHA:77259
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... ORPHA:662
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Bronchi... OMIM:616005
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic intersti... OMIM:618495
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Epidi... ORPHA:2035
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Perching Syndrome
Respiratory distress OMIM:617055
Fabry Disease
Dyspnea, Hyperlipidemia, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Lef... ORPHA:324
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233710
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough, Facial hemangioma ORPHA:137935
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... ORPHA:91359
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Abnormal pulmonary thoracic imaging findin... ORPHA:289390
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Pyelonephritis, Emphysema, Peripher... ORPHA:90349
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
De Barsy Syndrome
Recurrent sinopulmonary infections, Emphysema ORPHA:2962
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,... ORPHA:355
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... OMIM:245150
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Abn... ORPHA:227990
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, Pancreatitis, ... ORPHA:289916
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Lymphoproliferative disorder, Recurrent u... OMIM:614868
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... OMIM:233690
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, ... ORPHA:79312
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema, Acute leukemia ORPHA:289
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Thro... OMIM:305000
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Inflammatory abnormality of th... ORPHA:26793
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Congenital Disorder Of Glycosylation, Type Iu
Elevated hepatic transaminase, Neonatal respiratory distress, Elevated circulating creatine kinas... OMIM:615042
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Inc... ORPHA:508533
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bro... OMIM:617303
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Abn... ORPHA:227982
Mitochondrial Pyruvate Carrier Deficiency
Increased serum pyruvate, Hepatomegaly, Respiratory distress OMIM:614741
Selective Igm Deficiency
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec... ORPHA:331235
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure ORPHA:330021
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Eczema, Thrombocytopenia OMIM:619751
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Neonatal Marfan Syndrome
Neonatal respiratory distress, Emphysema, Hypoxemia ORPHA:284979
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Thrombocytopenia, Pulmonary fibrosis, Anemia OMIM:612199
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Respiratory distress ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Atelectasis, Respiratory insufficiency, Pulmonar... OMIM:269860
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... ORPHA:329178
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Respiratory insuffici... ORPHA:536467
Bloom Syndrome
Bronchitis, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased circulating IgG le... ORPHA:125
Succinic Acidemia
Respiratory distress OMIM:600335
Meier-Gorlin Syndrome 1
Respiratory distress, Emphysema OMIM:224690
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration, Ri... OMIM:253700
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Thymoma
Myositis, Non-Hodgkin lymphoma, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neopl... ORPHA:99867
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Decreased circulating I... ORPHA:79330
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ... OMIM:608799
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased cir... OMIM:601495
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Thrombocytopenia,... OMIM:214500
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... ORPHA:1304
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentratio... OMIM:620306
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Elevated circulating creatine kinase concentration, Dyspnea, Cough, Left ve... ORPHA:86812
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu... ORPHA:79264
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Bronchiectasis, Cheilitis, Absent isohemagglutinin level, R... OMIM:615468
Timothy Syndrome
Pneumonia, Bronchitis, Cardiomegaly, Hypocalcemia, Pulmonary arterial hypertension OMIM:601005
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary capillary hem... ORPHA:199241
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia, Erythroderma, Decreased circulating antibody level OMIM:617425
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:212140
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Lung abscess, Liver abscess, Dyspnea, Leukocytosis, Anemia, Elevat... ORPHA:67
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm OMIM:614437
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Gaucher Disease Type 3
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Thrombocytopenia, Abn... ORPHA:77261
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... ORPHA:83471
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hyperglutamatemia, Hyperammonemia OMIM:237310
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... OMIM:608710
Toxic Epidermal Necrolysis
Acute hepatic failure, Recurrent respiratory infections, Respiratory distress, Elevated hepatic t... ORPHA:537
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Tubulointerstitial ne... OMIM:251000
Autosomal Dominant Cutis Laxa
Bronchiectasis, Pyelonephritis, Bronchiolitis, Emphysema, Peripheral pulmonary artery stenosis ORPHA:90348
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Abnormal circulating enzyme concentration or activity, Hypoventilation, Neo... ORPHA:98915
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Portal hypertension, Respirato... ORPHA:367
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine ... ORPHA:1143
Wells Syndrome
Eosinophilia ORPHA:901
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Pituitary adenom... ORPHA:199299
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... ORPHA:98850
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c... ORPHA:50918
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thromboc... ORPHA:2072
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Abnormal circulating carnitine concentration, Decreased activity of NADPH oxidase, Aspiration pne... ORPHA:431361
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decrease... OMIM:607143
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro... OMIM:619381
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Respiratory failure ... ORPHA:77293
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro... ORPHA:167
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Arthralgia/arthritis, Spontaneous pneumothorax ORPHA:558
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Elevated circulating glutaric... OMIM:231680
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia, ... ORPHA:79242
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Acute hyperammonemia, Myelodysplasia, Hyperglutaminemia, Hype... ORPHA:927
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal eosinophil morpholog... ORPHA:171
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Pancytopenia, Thrombocytopenia, Hyper... OMIM:251110
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... OMIM:608013
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Thyroid Lymphoma
Respiratory distress, Dyspnea, Lymphoma, Upper airway obstruction, Stridor, Hashimoto thyroiditis ORPHA:97285
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, He... ORPHA:811
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Tachypnea, Respiratory insufficiency, Respiratory failure, Hy... OMIM:614299
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... OMIM:615595
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Recurrent respiratory infections, Benign neoplasm of the central nervous system, Hy... ORPHA:534
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Marfan Syndrome
Pulmonary artery dilatation, Emphysema, Pneumothorax, Premature osteoarthritis OMIM:154700
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Pulmonary fibrosis, Decreased circul... ORPHA:3337
Diaphanospondylodysostosis
Respiratory distress, Nephroblastomatosis, Respiratory insufficiency, Pulmonary hypoplasia, Trach... OMIM:608022
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Respiratory distress, Increased circulating interleukin 6 concentr... ORPHA:340
Lymphatic Malformation 7
Respiratory distress, Chylothorax, Pleural effusion, Anemia, Pulmonary edema OMIM:617300
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, ... ORPHA:90051
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hepatomegaly, Recurrent respiratory infections OMIM:619383
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Chand Syndrome
Atelectasis ORPHA:1401
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Pulmonary hypoplasia... ORPHA:3309
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... ORPHA:544482
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Pneumonia, Splenomegaly, Neoplasm, Chronic otitis media, Thromboc... ORPHA:169090
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Atelectasis, Recurrent pneum... OMIM:188400
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Cocaine Intoxication
Respiratory distress, Elevated circulating creatine kinase concentration, Glomerulonephritis, Dif... ORPHA:90068
22Q11.2 Deletion Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Atelectasis, Asthma, Abnorma... ORPHA:567
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Viss Syndrome
Exostosis of the external auditory canal, Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothora... OMIM:619472
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hepatosplenomegaly, Str... ORPHA:505248
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Mgat2-Cdg
Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Reduced level o... ORPHA:79329
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Jaundice, Myocarditis, Leukocytosis, Hepatitis, A... ORPHA:2331
Incontinentia Pigmenti
Skin rash, Eosinophilia, Keratitis, Uveitis, Pulmonary arterial hypertension, Infectious encephal... ORPHA:464
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Emphysema, High nonceruloplasmin-bound serum copper ORPHA:2834
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Neonatal respiratory distress, Respiratory distress,... OMIM:260400
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Mildly elevated creatine kinase, Respiratory insufficiency ORPHA:1145
Hypoglossia With Situs Inversus
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia OMIM:612776
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Japanese Encephalitis
Hyponatremia, Respiratory distress, Irregular respiration, Neutrophilia, Increased circulating Ig... ORPHA:79139
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Pancytopenia, Thrombocytopenia, Hyper... OMIM:251100
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Secretory IgA deficiency, Respiratory failure, Emphysema, Decreased cir... ORPHA:500150
Shigellosis
Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Abnor... ORPHA:810
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Cardiomegaly, Dyspnea, Pulmonary edema OMIM:115197
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Cough, Ground-glass opacificatio... OMIM:233450
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... ORPHA:2552
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Skin rash, Pneumonia, Elevated circulating creatinine concentration, Elevated ... ORPHA:247691
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia ORPHA:464453
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Inspiratory stridor, Irregular resp... OMIM:604377
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Stt3B-Cdg
Respiratory distress, Thrombocytopenia ORPHA:370924
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Thrombocytopenia OMIM:615597
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar... ORPHA:1018
Triosephosphate Isomerase Deficiency
Respiratory distress, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory insuffi... OMIM:615512
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c... OMIM:208900
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Pulmonary hypoplasia OMIM:151210
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Isolated Atp Synthase Deficiency
Hyperalaninemia, Hepatomegaly, Respiratory distress, Hyperammonemia ORPHA:254913
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Tuberous Sclerosis Complex
Respiratory distress, Retinal astrocytic hamartoma, Angiofibromas, Respiratory tract infection, P... ORPHA:805
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:620166
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Skin rash, Pneumonia, Increased circu... ORPHA:2298
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia, ... OMIM:618426
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine ... OMIM:274150
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... OMIM:607944
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Increased circulating IgE level, Inc... ORPHA:449432
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Barrett esophagus, Bronchitis, Episodic r... ORPHA:1199
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Facial capillary hemangioma, Thrombocytopenia, Leukocytosis,... OMIM:274000
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Aregenerative Anemia
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neut... ORPHA:101096
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Achondroplasia
Respiratory distress, Upper airway obstruction, Recurrent otitis media, Pulmonary hypoplasia OMIM:100800
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephalitis, Autoimmune thr... ORPHA:391487
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Stridor, Cough, Bronchiolitis, Recurrent asp... OMIM:230900
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lung lobatio... ORPHA:141127
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperp... ORPHA:509
Complete Atrioventricular Septal Defect
Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Wheezing, Recurrent pneumonia, Tac... ORPHA:1329
Spondyloenchondrodysplasia
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thromboc... ORPHA:1855
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Granulocytopenia OMIM:606164
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Endometrial carcinoma, Pneumonia, Jaundice, Hyperkalemia, Breast carcinoma ORPHA:90790
Geleophysic Dysplasia 3
Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia OMIM:617809
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Hemolytic anemia, Skin rash, Pneumonia, Chilblains, Pancytopeni... OMIM:615846
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Dyspnea, Wheezing, Pneumothorax, Urinary ... ORPHA:99921
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis OMIM:308300
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Colitis, ... OMIM:301220
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Brain abscess, Respiratory failure, Uterine leiomyoma, Recur... OMIM:616482
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Hepatic hemangioma... ORPHA:2330
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Rec... ORPHA:293978
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Thrombocytosis, Elevated circulating creatine kinase... ORPHA:94093
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell... ORPHA:221139
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Orthopnea, Eosinophilia, Cardiom... ORPHA:75565
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Recurrent respiratory i... OMIM:614162
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma, Keratoconjunctivitis sicca ORPHA:43393
Mirage Syndrome
Hyponatremia, Myelodysplasia, Thrombocytopenia, Hyperkalemia, Leukopenia, Aspiration pneumonia, H... OMIM:617053
Tetanus
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration ORPHA:3299
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Recu... ORPHA:17
Pulmonary Hypertension, Primary, 1
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... OMIM:178600
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood... ORPHA:79404
Cystic Fibrosis
Hepatomegaly, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:219700
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Prolonged neonatal jaundice ORPHA:226313
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Cholera
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspiration ... ORPHA:173
Bloom Syndrome
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Lymphoma, Bronchiectasis, ... OMIM:210900
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Hypercalcemia, Small cell lung carcinoma, Acute lymphoblast... ORPHA:821
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Fanconi Anemia, Complementation Group F
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:603467
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Respiratory distress, Conjugated hyperbilirubine... OMIM:617156
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplas... ORPHA:99889
Biotinidase Deficiency
Respiratory distress, Apnea, Skin rash, Hyperammonemia, Conjunctivitis, Eczematoid dermatitis, De... ORPHA:79241
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Colchicine Poisoning
Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Abnormal blood ion concentration, ... ORPHA:31824
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Thrombocy... OMIM:251260
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia OMIM:619167
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Abnormal pulmonary thoracic imaging finding, Cardiom... ORPHA:980
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Moebius Syndrome
Respiratory distress OMIM:157900
Cystic Fibrosis
Elevated hepatic transaminase, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Redu... ORPHA:586
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema OMIM:261740
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Myocarditis, Cardiorespiratory arrest, ... ORPHA:3342
Ethylene Glycol Poisoning
Gastritis, Episodic respiratory distress, Tachypnea, Hyperkalemia, Hypocalcemia, Abnormal pattern... ORPHA:31826
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Seve... ORPHA:83617
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Aspiration pneumonia ORPHA:95232
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Decreased beta-galactosidase ... ORPHA:354
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Respiratory distress, Respiratory failure requiring assisted venti... ORPHA:95455
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Pulmonary embolism, Megaloblasti... ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Respiratory distre... OMIM:615273
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ORPHA:206436
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma ORPHA:73230
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Respiratory distress, Elevated circulating aspartate aminotr... OMIM:256810
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Kniest Dysplasia
Respiratory distress, Recurrent otitis media, Tracheomalacia OMIM:156550
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pulmonary arterial hypertension, Cardiomegaly ORPHA:363705
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe... OMIM:253200
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Abnormal... ORPHA:646
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Aspir... ORPHA:845
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Leukopenia, Hypocalcemia, Lymphocytosis, Cough, Elevated hepatic... OMIM:619991
Plague
Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph... ORPHA:707
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... OMIM:616368
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... ORPHA:68
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Elevated circulating alkaline phosphatase concentration, Enlarged kidney, S... OMIM:618188
Gm1 Gangliosidosis Type 1
Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Pachyonychia Congenita
Respiratory distress, Steatocystoma multiplex, Angular cheilitis ORPHA:2309
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Brain abscess, Elevated circulating C-reactive protein concen... ORPHA:97214
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Reticulocytopenia, Steroid-responsive anemia, Anemia OMIM:613309
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration OMIM:618733
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections ORPHA:177907
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Hepatic failure, Thrombo... OMIM:301072
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Respiratory failure requiri... ORPHA:99125
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Schinzel-Giedion Syndrome
Respiratory distress, Sacrococcygeal teratoma, Myeloid leukemia, Recurrent pneumonia, Ependymoma,... ORPHA:798
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Abnormality of Krebs cycle metabolism, Dyspnea, Low plasma citrulline, Episo... ORPHA:255210
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspi... ORPHA:397715
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Oculopharyngodistal Myopathy 1
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... OMIM:164310
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Visceral angiomatosis ORPHA:1555
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cardiomegaly, Asplenia, Total anomal... OMIM:306955
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Auriculocondylar Syndrome
Respiratory distress, Hamartoma of tongue ORPHA:137888
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Alpha-Mannosidosis, Infantile Form
Abnormal circulating enzyme concentration or activity, Pancytopenia, Pneumonia, Hepatosplenomegal... ORPHA:309282
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Conjunctiv... OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Mucopolysaccharidosis Type 3
Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple... ORPHA:581
Rodrigues Blindness
Nasal flaring OMIM:268320
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Left ventricular hypertrophy, Exertional ... ORPHA:2299
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... ORPHA:3132
Rubinstein-Taybi Syndrome 1
Respiratory distress, Accessory spleen, Respiratory tract infection, Recurrent upper respiratory ... OMIM:180849
Cornelia De Lange Syndrome 1
Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Asplenia ORPHA:210122
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Gitelman Syndrome
Respiratory distress, Neoplasm of the pancreas, Hypermagnesemia, Gout, Tubulointerstitial nephrit... ORPHA:358
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Degcags Syndrome
Hepatomegaly, Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Asthma, Hepatosplenomegaly,... OMIM:619488
Ramos-Arroyo Syndrome
Respiratory distress, Keratitis ORPHA:1051
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Cushing Disease
Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Recurrent cutaneous fungal infections, ... ORPHA:96253
Coffin-Siris Syndrome
Hepatoblastoma, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira... ORPHA:1465
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Doors Syndrome
Respiratory distress, Thrombocytosis, Capillary hemangioma, Aspiration pneumonia ORPHA:79500
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Eczema OMIM:305100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Elevated circulating alpha-fetoprotein concentration, Blepharitis, Pulmonary arterial hypertensio... ORPHA:280633
8Q24.3 Microdeletion Syndrome
Respiratory distress, Abnormal lung lobation, Capillary hemangioma ORPHA:508488
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Spinal cord tumor, Neoplasm, ... ORPHA:353281
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Opitz Gbbb Syndrome
Stridor, Enlarged ovaries, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis ORPHA:2255
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Splenomegaly, Hepatomegaly, Hamartoma, Respiratory distress OMIM:617088
Lafora Disease
Hepatic failure, Recurrent aspiration pneumonia ORPHA:501
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia, Cavernous hemangioma of the face, Acute myelomonocytic... ORPHA:99646
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Aspiration pneumonia, Anemia ORPHA:438213
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2556
Alström Syndrome
Respiratory distress, Elevated gamma-glutamyltransferase level, Otitis media, Hepatomegaly, Porta... ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Otitis media, Aspiration, Men... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Otitis media, Aspiration, Men... ORPHA:353277
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections, Neoplasm ORPHA:480880
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Hypoplasia of the thymus, Pneumonia OMIM:264090
Fontaine Progeroid Syndrome
Pneumothorax, Respiratory insufficiency, Pulmonary hypoplasia, Left ventricular hypertrophy, Pulm... OMIM:612289
Pmm2-Cdg
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Reduced thyroxin-binding globu... ORPHA:79318
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Septic arthritis, Recurrent aspiration pneumonia, Tooth absces... ORPHA:642
Generalized Arterial Calcification Of Infancy
Respiratory distress, Elevated alkaline phosphatase of bone origin, Cardiomegaly, Hypophosphatemi... ORPHA:51608
Kabuki Syndrome 1
Recurrent otitis media, Hemolytic anemia, Recurrent aspiration pneumonia, Autoimmune thrombocytop... OMIM:147920
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340

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 Hck

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 Hck.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
HCK induces macrophage activation to promote renal inflammation and fibrosis via suppression of autophagy. Nature communications (July 2023) Hcktm1a(EUCOMM)Hmgu 37463911

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Hckem1(IMPC)Ccpcz Exon Deletion Mice
Hcktm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Hcktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Hcktm29037(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Hcktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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