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Gene: Tomm5 MGI:1915762

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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:
translocase of outer mitochondrial membrane 5
Synonyms:
1110019J04Rik

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 Tomm5 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tomm5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
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
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... OMIM:178550
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ... ORPHA:60026
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasi... OMIM:612387
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Bronchiectasis, Atopic dermatitis, Ulcerative colitis, Colonic e... OMIM:617638
Immunodeficiency 88
Asthma, Eosinophilia OMIM:619630
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Chronic p... OMIM:618986
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Usual interstitial pneumonia, Mediastinal lymph... OMIM:614742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Bone marrow hypocellularity, Pulmonary fibrosis OMIM:618674
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly,... OMIM:226990
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... ORPHA:724
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Crackles, Dyspnea, Hepatosplenomegaly, Restrictive ventilatory defect... ORPHA:210136
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Pulmonary fibrosis, Leukemia, Bone marrow hypocellularity, Myeloid... OMIM:614743
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Cough, Hypersensitivity pneumonitis, Keratitis... ORPHA:1163
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... OMIM:615518
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... OMIM:618523
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Splenomegaly, Recurrent ... ORPHA:47612
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Nonproducti... ORPHA:2902
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, T lymphocyto... OMIM:608971
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea... OMIM:607616
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis, Goiter OMIM:617175
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Juvenile Temporal Arteritis
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia ORPHA:26137
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... OMIM:147060
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ... OMIM:613101
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Chronic oral candidiasis, Abnormal pro... OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... OMIM:616414
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Crackles, Dys... ORPHA:99931
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia OMIM:247800
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Decreased ... OMIM:610978
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, T lymphocytopenia, Pulmonary fibrosis, ... OMIM:619510
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of... OMIM:619126
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Anemia... ORPHA:90060
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... OMIM:269840
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... ORPHA:911
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Restrictive ventilatory defect, Pulmonary fibrosis, Bone marrow hypocellularity, Ab... OMIM:619767
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... OMIM:617514
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... OMIM:603554
Kimura Disease
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia ORPHA:482
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Recurr... OMIM:602450
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:611926
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Death in infancy OMIM:275300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren... ORPHA:169154
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythroderma, Thyroiditis, Lym... ORPHA:139402
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema... OMIM:619644
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... OMIM:612444
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Restrictive ventilatory defect, Erysipelas, Pulmonary fibrosis OMIM:615704
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Erythroderma, ... ORPHA:39041
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma OMIM:610163
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Dyspnea, Myocarditi... ORPHA:809
Hermansky-Pudlak Syndrome 4
Epistaxis, Absent platelet dense granules, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Follicular hyperplasia, Pustule, Tachypnea... OMIM:615934
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Roifman Syndrome
Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media OMIM:616651
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A... OMIM:607115
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Recurrent otitis ... ORPHA:353298
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br... OMIM:613490
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas... ORPHA:443811
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Pulmonary fibrosis ORPHA:220402
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstiti... ORPHA:81
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo... OMIM:265120
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node ... ORPHA:79124
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Pul... OMIM:612852
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Pulmonary fibrosis, Testicular atrophy, Anemia OMIM:618165
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:601859
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... ORPHA:2686
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, H... OMIM:256500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Neonatal Alloimmune Neutropenia
Pneumonia, Miscarriage, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Death in childhood OMIM:609528
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... OMIM:603909
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Pneum... OMIM:102700
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosi... OMIM:618999
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Bone-marrow foam cells, Splenomegaly, Respirator... OMIM:607625
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... OMIM:266265
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Th... ORPHA:90045
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... OMIM:300400
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, L... OMIM:304790
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Skin ras... ORPHA:331206
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, Co... ORPHA:2314
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased testicular size, Pulmonary fibrosis, Decreased response to growth hormone stimulation test ORPHA:457240
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eos... OMIM:615816
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:1839
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Arthritis, B lymphocytopenia, Recurrent... ORPHA:397596
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Bronchiolitis obliterans, Hypoplasia of the... OMIM:617241
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Dec... OMIM:607271
Microlissencephaly
Pneumonia ORPHA:1083
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Peeling Skin Syndrome 1
Asthma, Eosinophilia, Erythroderma OMIM:270300
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Abnormal pulmonary intersti... OMIM:620233
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis ORPHA:52047
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Eosino... ORPHA:183
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphade... ORPHA:3392
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Anisocytosis, Atelectasis, L... OMIM:618278
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor... ORPHA:420741
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... OMIM:150550
Retinal Dystrophy And Microvillus Inclusion Disease
Death in infancy, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Asthma, Leukocytosis, Atopic dermatitis, Anemia ORPHA:2070
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ... OMIM:608233
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Cystic Echinococcosis
Multiple pulmonary cysts, Pulmonary cyst, Eosinophilia, Abscess, Abnormality of the testis size, ... ORPHA:400
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Pulmonary fibrosis, Bone marrow hypocellularity, Neutr... OMIM:613989
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Anemia, Leukopenia, Interstitial pneumonitis, Increased mean corpuscula... OMIM:127550
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Autoimmune Lymphoproliferative Syndrome
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... ORPHA:3261
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... ORPHA:60025
Rajab Interstitial Lung Disease With Brain Calcifications 2
Microcytic anemia, Abnormal pulmonary interstitial morphology, Hepatosplenomegaly, Restrictive ve... OMIM:619013
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613807
Polymyositis
Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Arthritis, P... ORPHA:732
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... OMIM:608184
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumothorax, T... ORPHA:36238
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Cryptorchidism, Leukopenia, Pulmonary fibrosis, Bone marrow hypoce... OMIM:613990
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug... ORPHA:3260
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Typhoid
Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infectious... ORPHA:99745
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Pure red cel... ORPHA:436159
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Streak ovary, Pulmonary fibrosis ORPHA:243
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Wells Syndrome
Eosinophilia ORPHA:901
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Thyroid dy... ORPHA:209905
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Pulmonary fibrosis, Thrombocytopenia OMIM:224230
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... OMIM:301082
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Keratoconjunc... OMIM:617388
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia OMIM:193670
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening OMIM:265450
Fusariosis
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Pneumonia, Myositis, Maculopapular exanthema, ... ORPHA:228119
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial mo... OMIM:230800
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Granulomatosis With Polyangiitis
Recurrent respiratory infections, Pericarditis, Recurrent intrapulmonary hemorrhage, Sinusitis, E... ORPHA:900
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... OMIM:613808
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... OMIM:244400
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju... OMIM:240500
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Abnormal lung morphology, Dyspnea, Nephritis, Pancreatiti... ORPHA:449427
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... ORPHA:29207
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Hyper... ORPHA:2035
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Dyspnea, Pulmonary fibrosis, Arthritis ORPHA:220393
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... OMIM:617091
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Recurrent pneumonia, Epididymitis, Bronchiectasis, Wheezing, ... OMIM:300755
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis... ORPHA:35687
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Cough, Morbilliform rash, Abscess, Mediastinal l... ORPHA:228123
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Hermansky-Pudlak Syndrome 1
Epistaxis, Restrictive ventilatory defect, Inflammation of the large intestine, Colitis, Pulmonar... OMIM:203300
Loeffler Endocarditis
Dyspnea, Pericarditis, Eosinophilia, Cough ORPHA:75566
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... ORPHA:797
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Alveolar Echinococcosis
Pulmonary cyst, Liver abscess, Cholangitis, Eosinophilia, Pancreatic cysts, Dyspnea, Abnormal spl... ORPHA:284
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Bronchial Neuroendocrine Tumor
Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentrati... ORPHA:97287
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis OMIM:614069
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomega... ORPHA:781
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Igg4-Related Aortitis
Increased inflammatory response, Asthma, Hypereosinophilia ORPHA:449400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno... ORPHA:221
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti... OMIM:614868
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology... OMIM:617050
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Death in infancy, Lymphopenia, Eosinophilia, Erythroderma OMIM:617425
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Keratitis, Orchitis, Abnormal lung morphology, Abnormality ... ORPHA:449563
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Autoimmune thro... OMIM:616100
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Dyspnea, Restrictive ventilatory defect, Arthritis, Pulmonary ... ORPHA:93672
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Dyspnea, Myocarditis,... ORPHA:90291
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... OMIM:616433
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... ORPHA:449395
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, Reduced natural kill... OMIM:242860
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bone marrow hypocellularity, Thrombocytopenia, Pulmonary fibrosis, Anemia OMIM:612199
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Immune-Mediated Necrotizing Myopathy
Myocarditis, Myositis, Skin rash, Abnormal pulmonary interstitial morphology ORPHA:206569
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... ORPHA:276
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho... ORPHA:77259
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
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
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo... ORPHA:227990
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Hermansky-Pudlak Syndrome
Dyspnea, Epistaxis, Pulmonary fibrosis, Neutropenia ORPHA:79430
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis... ORPHA:183675
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... ORPHA:1304
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno... ORPHA:199299
Gaucher Disease
Death in infancy, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Abnormal pulmonary i... ORPHA:355
Overlap Myositis
Abnormal pulmonary interstitial morphology, Leukopenia, Arthritis, Rheumatoid arthritis, Pulmonar... ORPHA:206572
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo... ORPHA:70578
Ciliary Dyskinesia, Primary, 37
Rhinorrhea, Wheezing, Bronchiectasis, Chronic rhinitis, Goiter OMIM:617577
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Hydrocele testis, Neonat... OMIM:620014
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent ... OMIM:619705
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Abnormal... ORPHA:2072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne... ORPHA:37042
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu... OMIM:616005
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Death in adolescence, Recurrent ... OMIM:615468
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophilia, T lymphocyt... ORPHA:508533
Wild Type Attr Amyloidosis
Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary edema ORPHA:330001
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p... ORPHA:83471
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... ORPHA:289390
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, Uveitis, Br... OMIM:308300
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Cryptorchidism, Anemia, Leukopenia, Restrictive ventilatory... OMIM:305000
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, He... ORPHA:39812
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura... OMIM:241600
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... ORPHA:331235
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of... ORPHA:449432
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, Thrombocytopenia ORPHA:169090
Incontinentia Pigmenti
Skin rash, Eosinophilia, Supernumerary nipple, Keratitis, Uveitis, Pulmonary arterial hypertensio... ORPHA:464
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Conjunc... OMIM:601495
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Skin rash, Pustule, Splenomegaly, Myocarditis, Cervical lymphadenopa... ORPHA:50918
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dyspnea, Media... ORPHA:199241
Kawasaki Disease
Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Myocarditis, Cervical lymphadenopat... ORPHA:2331
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali... ORPHA:2552
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Dyspnea, Abnormal pulmonary interstitial morphology, Pu... ORPHA:85443
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Immunodeficiency 58
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Eczema, Allergic rhiniti... OMIM:618131
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosple... OMIM:274000
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... ORPHA:77261
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia ORPHA:1867
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt... ORPHA:811
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Gaucher Disease, Type Ii
Death in infancy, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiratio... OMIM:230900
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopathy, T lymp... OMIM:607944
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypoxemia, Rest... ORPHA:747
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro... OMIM:619381
Shigellosis
Acute colitis, Pneumonia, Abscess, Myocarditis, Leukocytosis, Peritonitis, Uveitis, Ulcerative co... ORPHA:810
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Respirato... ORPHA:2968
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... ORPHA:1855
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... ORPHA:125
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Fanconi Anemia, Complementation Group F
Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope... OMIM:603467
Primary Fanconi Renotubular Syndrome
Pulmonary fibrosis ORPHA:3337
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, R... OMIM:613658
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Aspiration pneumonia OMIM:619167
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hormone stimulati... ORPHA:293978
Mirage Syndrome
Cryptorchidism, Anemia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Decrea... OMIM:617053
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Knobloch Syndrome 2
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology OMIM:618458
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hypersplenism, S... ORPHA:77293
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Skin rash, Pneumonia ORPHA:247691
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Pneumonia, Respiratory tract infection, Dyspnea, ... ORPHA:544482
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Generalized... OMIM:615846
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Hepatosplenomegaly, Ulcerative ... ORPHA:171
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Viss Syndrome
Chronic gastritis, Eczema, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Atopic dermatitis, P... OMIM:619472
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Leukocytosis, Acute tubu... ORPHA:340
Chops Syndrome
Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal... OMIM:616368
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Chronic Graft Versus Host Disease
Pancytopenia, Fasciitis, Dyspnea, Wheezing, Pneumothorax, Urinary bladder inflammation, Bronchiec... ORPHA:99921
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Enlarged polycystic ovaries, Osteoarthritis, Polycystic o... ORPHA:2298
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Tropical Endomyocardial Fibrosis
Orthopnea, Eosinophilia, Dyspnea, Splenomegaly, Pulmonary venous hypertension ORPHA:75565
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... ORPHA:68
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restr... OMIM:233450
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Cholera
Tachypnea, Miscarriage, Aspiration pneumonia, Hyperventilation ORPHA:173
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Adrenal hyperplasia, Pneumonia ORPHA:90790
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Cushing Disease
Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Recurrent cutaneou... ORPHA:96253
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Arth... ORPHA:221139
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:253200
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ... ORPHA:99889
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia OMIM:301072
Cornelia De Lange Syndrome 1
Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Thrombocytopenia OMIM:122470
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly ORPHA:309282
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr... ORPHA:581
Tay-Sachs Disease
Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... OMIM:602535
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Ente... ORPHA:707
Neuroleptic Malignant Syndrome
Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocytosis, Thrombocytopenia ORPHA:94093
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Degcags Syndrome
Pancytopenia, Chronic lung disease, Pneumonia, Congenital hypoplastic anemia, Cryptorchidism, Ast... OMIM:619488
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Liver Disease, Severe Congenital
Chronic gastritis, Pneumonia, Eczema, Biliary hyperplasia, Thrombocytopenia, Splenomegaly, Perito... OMIM:619991
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Asthma, Aspiration pneumonia, Tracheomalac... ORPHA:444077
Coffin-Siris Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Fontaine Progeroid Syndrome
Death in infancy, Absent nipple, Cryptorchidism, Pneumothorax, Respiratory insufficiency, Pulmona... OMIM:612289
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia, Cryptorchidism OMIM:264090
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Otitis media ORPHA:353281
Semilobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Panhy... ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Abnormality of the anterior pitu... ORPHA:438213
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele testis, Otitis med... ORPHA:353277
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Septic arthritis, Recurrent aspir... ORPHA:642
Doors Syndrome
Respiratory distress, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia ORPHA:79500
Yunis-Varon Syndrome
Absent nipple, Cryptorchidism, Hypoplastic nipples, Aspiration pneumonia, Pulmonary arterial hype... OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Elevated circulating growth hormone concentration, Aspiration... ORPHA:79318

Histopathology

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

There is no histopathology data for Tomm5

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 Tomm5.

No publications found that use IMPC mice or data for Tomm5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Tomm5tm447865(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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