Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Alox8 MGI:1098228

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

arachidonate 8-lipoxygenase

Synonyms:

8S-lipoxygenase, Alox15b, 8S-LOX, 8-LOX

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 Alox8 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.

Human diseases associated with Alox8 (0 diseases)
Human diseases predicted to be associated with Alox8 (352 diseases)

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

The table below shows human diseases predicted to be associated to Alox8 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Pulmonary Blastoma	Fever, Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Idiopathic Bronchiectasis	Fever, Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cac...	ORPHA:60033
Primary Erythromelalgia	Recurrent respiratory infections, Hypothermia	ORPHA:90026
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,...	OMIM:269840
Immunodeficiency 104	Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Otitis ...	OMIM:608971
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis	OMIM:312863
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit...	OMIM:601457
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Hypothermia	OMIM:610006
Spontaneous Periodic Hypothermia	Skin rash, Ataxia, Hypothermia, Gait disturbance, Abnormal pattern of respiration	ORPHA:29822
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Riboflavin Deficiency	Lethargy, Hypothermia	OMIM:615026
Acute Lung Injury	Respiratory distress, Fever, Acute pancreatitis, Increased circulating interleukin 6 concentratio...	ORPHA:178320
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Fever, Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent candida inf...	ORPHA:169160
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Skin rash, Pneumonia, Recurrent pneumonia, Agammaglobulinemia, D...	OMIM:300400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Pneumocystosis	Fever, Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductiv...	ORPHA:723
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Neonatal Alloimmune Neutropenia	Fever, Sepsis, Pneumonia, Temperature instability	ORPHA:464370
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Fever, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, ...	ORPHA:79127
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia	OMIM:618806
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Timothy Syndrome	Pneumonia, Bronchitis, Hypothermia, Patent ductus arteriosus, Recurrent infections, Pulmonary art...	OMIM:601005
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Developmental And Epileptic Encephalopathy 78	Inability to walk, Hypothermia	OMIM:618557
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Isolated Agammaglobulinemia	Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin r...	ORPHA:229717
Tracheobronchopathia Osteochondroplastica	Fever, Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wh...	ORPHA:3348
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Low-grade fever, Cough, Pulmonary...	ORPHA:1164
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Decreased circula...	OMIM:607594
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody level, Arthritis...	ORPHA:397596
Meningococcal Meningitis	Fever, Neonatal respiratory distress, Skin rash, Hypothermia, Sepsis, Lethargy, Infectious enceph...	ORPHA:33475
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Hypoventilation, Abnormality of temperature regulation, Hypothermia, Inability to walk, Un...	OMIM:618493
Immunodeficiency 32B	Fever, Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Recurrent infectio...	OMIM:226990
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative...	OMIM:617638
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Patent ductus arteriosus, Tachypnea, Hypothermia	OMIM:616501
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:300991
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma...	ORPHA:70578
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent inf...	OMIM:615207
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Hypothermia, Respiratory insufficiency, Respiratory failure, Failu...	OMIM:245400
Complement Factor B Deficiency	Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease	OMIM:615561
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnor...	ORPHA:276
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Idiopathic Congenital Hypothyroidism	Lethargy, Hypothermia	ORPHA:95717
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
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,...	ORPHA:26793
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Scedosporiosis	Fever, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronc...	ORPHA:449280
Autosomal Agammaglobulinemia	Fever, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infe...	ORPHA:33110
Rigid Spine Syndrome	Waddling gait, Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B...	OMIM:615513
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Respiratory insufficiency	OMIM:614654
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon...	OMIM:616576
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Fever, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Se...	ORPHA:36238
Immunodeficiency 52	Recurrent pneumonia, Bronchiectasis, Recurrent infections, Decreased circulating antibody level, ...	OMIM:617514
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Fever, Dyspnea, Hypoxem...	ORPHA:140896
Congenital Enterovirus Infection	Respiratory distress, Fever, Skin rash, Hypothermia, Myocarditis, Hepatitis, Sepsis, Pleural effu...	ORPHA:292
Immunodeficiency 62	Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronchiectasis, Decreas...	OMIM:618459
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circulating IgG leve...	ORPHA:183675
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon...	OMIM:615482
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Recurrent ...	OMIM:614069
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio...	OMIM:614868
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration	OMIM:608800
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Arthritis, Recurrent otitis ...	OMIM:620321
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Immunodeficiency 27A	Fever, Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Weight loss, Inc...	OMIM:209950
Microlissencephaly	Pneumonia	ORPHA:1083
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Inability to walk, Respiratory failu...	ORPHA:90117
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Abnormal pattern of respiration, Hypothermia	ORPHA:168593
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract...	ORPHA:436159
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Fever, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bron...	ORPHA:411703
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Hypothermia, Large for gestational age	ORPHA:226313
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F...	ORPHA:264675
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Recurrent infection...	OMIM:618982
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si...	OMIM:240500
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia	OMIM:619057
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Riddle Syndrome	Ataxia, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia...	ORPHA:420741
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections	OMIM:618648
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Aspergillosis	Fever, Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dyspnea, Asthma, Chronic pulmonary obstruc...	ORPHA:1163
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Hypothermia	OMIM:614498
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,...	ORPHA:70587
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni...	ORPHA:911
Tularemia	Respiratory distress, Fever, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased ci...	ORPHA:3392
Immunodeficiency 60 And Autoimmunity	Fever, Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulat...	OMIM:618394
Familial Thyroid Dyshormonogenesis	Lethargy, Hypothermia	ORPHA:95716
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Melioidosis	Fever, Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, ...	ORPHA:31202
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Autosomal Dominant Severe Congenital Neutropenia	Fever, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear in...	ORPHA:486
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokines...	ORPHA:99027
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613807
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pne...	OMIM:618282
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Bronchiectasis, Increased circulating IgG level, Increased circulating IgM level, Recurrent otiti...	OMIM:619220
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Bronchiectasis, Recurrent fever, Cough	OMIM:619468
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Immunodeficiency 12	Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,...	OMIM:615468
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch...	OMIM:613490
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia	OMIM:266265
Immunodeficiency 109 With Lymphoproliferation	Bronchiectasis, Recurrent sinusitis, Recurrent lower respiratory tract infections, Decreased circ...	OMIM:620282
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Acute pancreatitis, Apnea, Ataxia, Hypothermia, Tachypnea, Weight loss, Lethargy	ORPHA:20
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Bronchiectasis, Recurrent infections, Recurrent aphthous stomatitis, Chronic...	OMIM:150550
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Failure to thrive, Pneumonia, Atypical or prolonge...	ORPHA:83471
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Sudden episodic apnea, Hypothermia, Respiratory insufficiency	ORPHA:159
Combined Immunodeficiency Due To Crac Channel Dysfunction	Fever, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurre...	ORPHA:169090
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Ataxia, Pneumonia, Recurrent viral infections, Rec...	OMIM:613179
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia	OMIM:245590
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ...	OMIM:301082
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea, Intermittent hypothermia, Cardiorespiratory arrest, Choreoathetosis, Athetosis, Lethargy, ...	OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Hypothermia, Hyperventilation	OMIM:618775
Lymphoid Interstitial Pneumonia	Fever, Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspne...	ORPHA:79128
Avian Influenza	Respiratory distress, Fever, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea...	ORPHA:454836
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent p...	OMIM:242700
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome	Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor	ORPHA:2375
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota...	OMIM:614878
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Failure to thrive, Hypothermia, Respiratory insufficiency	OMIM:618329
Immunodeficiency 13	Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron...	OMIM:615518
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Respiratory f...	ORPHA:2590
Menkes Disease	Hypothermia	OMIM:309400
Ethylene Glycol Poisoning	Gastritis, Ataxia, Hypothermia, Tachypnea, Episodic respiratory distress, Renal tubular epithelia...	ORPHA:31826
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Apnea, Hypothermia, Patent ductus arterio...	ORPHA:17
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Apnea, Ataxia, Hypothermia, Dyspnea, Episodic respiratory distress, Gait ataxia, Failure t...	ORPHA:255210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Failur...	OMIM:242860
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo...	OMIM:619752
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Hypothermia, Hepatocellular necrosis	OMIM:251880
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections...	OMIM:616100
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im...	OMIM:618063
Immunodeficiency 77	Recurrent tonsillitis, Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess	OMIM:619223
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial...	OMIM:612387
Bronchogenic Cyst	Fever, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronch...	ORPHA:2357
Omenn Syndrome	Fever, Pneumonia, Sepsis, Thyroiditis, Erythroderma, Failure to thrive	ORPHA:39041
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Di...	ORPHA:98897
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough	ORPHA:216866
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis, Partial absence of sp...	OMIM:619652
Genetic Transient Congenital Hypothyroidism	Lethargy, Hypothermia	ORPHA:226316
Fusariosis	Fever, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Kera...	ORPHA:228119
Acute Interstitial Pneumonia	Fever, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, ...	ORPHA:79126
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia, Ataxia	OMIM:619971
Alexander Disease	Ataxia, Hypothermia, Respiratory insufficiency, Gait disturbance, Failure to thrive, Infectious e...	ORPHA:58
Selective Igm Deficiency	Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent...	ORPHA:331235
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Increased circulating IgA level, Bronchiectasis, Recurrent infec...	OMIM:618534
Agammaglobulinemia, X-Linked	Sepsis, Conjunctivitis, Decreased circulating IgE, Decreased circulating IgG level, Infectious en...	OMIM:300755
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C...	OMIM:244400
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough	OMIM:604809
Immunodeficiency 40	Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral candidia...	OMIM:616433
Car T Cell Therapy-Associated Cytokine Release Syndrome	Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin r...	ORPHA:542323
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Ataxia, Sepsis, Recurrent infections, Recurre...	ORPHA:204
Common Variable Immunodeficiency	Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Bronchiectasis, Decrea...	ORPHA:1572
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in...	OMIM:618986
Nocardiosis	Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Infe...	ORPHA:31204
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Ataxia, Hypothermia, Pulmonary embolism, Stomatitis, Pulmonary arterial hyp...	ORPHA:79282
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Recurrent enteroviral infections, Failure to thrive in infancy,...	ORPHA:79124
Drug Reaction With Eosinophilia And Systemic Symptoms	Fever, Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubu...	ORPHA:139402
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Neuroleptic Malignant Syndrome	Fever, Hypothermia, Pulmonary embolism, Sepsis, Aspiration pneumonia	ORPHA:94093
Isolated Thyroid-Stimulating Hormone Deficiency	Lethargy, Failure to thrive, Hypothermia	ORPHA:90674
Dopamine Beta-Hydroxylase Deficiency	Dyspnea, Rhinitis, Hypothermia	ORPHA:230
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Psoriasiform derma...	ORPHA:37042
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Sepsis, Nephritis, Infectious enceph...	ORPHA:2552
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fever, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash,...	ORPHA:36234
Tbck-Related Intellectual Disability Syndrome	Eczema, Hypothermia, Inability to walk, Asthma, Respiratory insufficiency	ORPHA:488632
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Hypothermia	ORPHA:90673
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial...	OMIM:620233
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis,...	OMIM:602450
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia...	OMIM:618253
Sarcoidosis	Fever, Maculopapular exanthema, Abnormal pleura morphology, Hypothermia, Erythema nodosum, Dyspne...	ORPHA:797
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurrent lower ...	OMIM:600802
Omenn Syndrome	Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection...	OMIM:603554
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch...	OMIM:241600
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Pgm3-Cdg	Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Membra...	ORPHA:443811
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Non-periodic recurrent fever, Aspiration pneumonia, Loss of ambulation	ORPHA:79264
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Fever, Hypoventilation, Central hypoventilation, Hypothermia, Asthma, Recurrent upper respiratory...	ORPHA:293987
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Slc35A1-Cdg	Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Q Fever	Respiratory distress, Fever, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myo...	ORPHA:781
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Hypothermia, Recurrent Staphylococcus aureus infections, Difficulty wal...	ORPHA:642
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ataxia, Allergic rhin...	OMIM:615816
Bloom Syndrome	Recurrent urinary tract infections, Skin rash, Pneumonia, Bronchitis, Small for gestational age, ...	ORPHA:125
Alpha-Mannosidosis, Adult Form	Ataxia, Pneumonia, Recurrent gastroenteritis, Recurrent infections	ORPHA:309288
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ataxia, Small for gestational age, Inability to walk, Recurrent in...	ORPHA:79243
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Choreoathetosis, Aspiration pneumonia, Nonprogressive cerebellar ataxia, Failure to thrive, Pancr...	ORPHA:431361
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re...	OMIM:620296
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Marburg Hemorrhagic Fever	Fever, Pericarditis, Skin rash, Maculopapular exanthema, Hypothermia, Orchitis, Nonproductive cou...	ORPHA:99826
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's di...	OMIM:619705
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Loss of ambulation, Restrictive ventilatory defect, Pneumonia	OMIM:253700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Recurrent pneumo...	OMIM:301220
Postinfectious Vasculitis	Fever, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomeruloneph...	ORPHA:48435
Brucellosis	Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epidid...	ORPHA:1304
Bronchial Neuroendocrine Tumor	Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho...	ORPHA:97287
Infantile Neuroaxonal Dystrophy	Ataxia, Unsteady gait, Apneic episodes in infancy, Gait disturbance, Aspiration pneumonia, Temper...	ORPHA:35069
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Lethargy, Hypothermia	OMIM:218700
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Shuffling gait, Aspiration pneumonia	ORPHA:53351
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Decreased ...	OMIM:619381
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr...	OMIM:615952
Menkes Disease	Osteomyelitis, Sepsis, Hypothermia	ORPHA:565
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Sepsis	ORPHA:231154
Shigellosis	Fever, Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcera...	ORPHA:810
Good Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i...	ORPHA:169105
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Lethargy, Hypothermia	ORPHA:226307
Immunodeficiency 31C	Fever, Recurrent respiratory infections, Osteomyelitis, Eczema, Cough, Bronchiectasis, Chronic mu...	OMIM:614162
Cryptococcosis	Respiratory distress, Fever, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea...	ORPHA:1546
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Fever, Failure to thrive, Pneumonia	ORPHA:90790
Orthostatic Hypotension 1	Intermittent hypothermia	OMIM:223360
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Pulmonary Alveolar Microlithiasis	Fever, Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural ...	ORPHA:60025
Listeriosis	Respiratory distress, Fever, Pericarditis, Osteomyelitis, Ataxia, Pneumonia, Pustule, Myocarditis...	ORPHA:533
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Inability to walk, Shuffling gait, Aspiration pneumonia	ORPHA:52368
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Apnea, Hypothermia, Breathing dysregulation, Inability to walk...	ORPHA:438213
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Occipital Horn Syndrome	Hypothermia, Recurrent urinary tract infections, Hepatitis, Esophagitis	ORPHA:198
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent pneumonia, ...	ORPHA:293978
Gm1 Gangliosidosis	Recurrent respiratory infections, Ataxia, Patent ductus arteriosus, Unsteady gait, Weight loss, G...	ORPHA:354
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Ataxia, Recurrent urinary tract infection...	ORPHA:221139
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold...	ORPHA:586
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti...	ORPHA:2968
Infection-Related Hemolytic Uremic Syndrome	Fever, Increased circulating interleukin 6 concentration, Pneumonia, Respiratory tract infection,...	ORPHA:544482
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Mirage Syndrome	Recurrent urinary tract infections, Patent ductus arteriosus, Sepsis, Recurrent bacterial infecti...	OMIM:617053
Sarcoidosis, Susceptibility To, 1	Fever, Dyspnea, Iridocyclitis, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial morpholog...	OMIM:181000
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Coccidioidomycosis	Respiratory distress, Fever, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum,...	ORPHA:228123
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los...	ORPHA:1018
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys...	OMIM:158310
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Aicardi-Goutieres Syndrome 7	Fever, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Weight...	OMIM:615846
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Fever, Increased circulating interleukin 6 concentration, Pneumonia, Epista...	ORPHA:340
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Fever, Sinusitis, Ataxia, Pneumonia, Respiratory tract infection, Pustule, L...	ORPHA:68
Cholera	Fever, Tachypnea, Aspiration pneumonia, Lethargy, Hyperventilation	ORPHA:173
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D...	ORPHA:79404
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali...	ORPHA:73263
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Difficult...	OMIM:619482
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Osteoarthritis...	ORPHA:2298
Gaucher Disease, Type Ii	Apnea, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia	OMIM:230900
Spondyloenchondrodysplasia	Skin rash, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Juvenile rheumatoid arthritis	ORPHA:1855
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop...	OMIM:219700
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis...	OMIM:607944
Acute Radiation Syndrome	Fever, Inflammatory abnormality of the skin, Interstitial pneumonitis	ORPHA:454831
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t...	ORPHA:79138
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R...	ORPHA:99104
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Sepsis, Skin rash, Pneumonia	ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
Hennekam-Beemer Syndrome	Failure to thrive, Pneumonia, Respiratory insufficiency	ORPHA:2135
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Aspiration pneumonia	OMIM:619167
Shwachman-Diamond Syndrome	Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Recurrent viral infections, Sepsis, Recur...	ORPHA:811
Fanconi Anemia, Complementation Group F	Patent ductus arteriosus, Failure to thrive, Pneumonia	OMIM:603467
Plague	Respiratory distress, Chapped lip, Fever, Skin rash, Erythema nodosum, Lymphadenitis, Unsteady ga...	ORPHA:707
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Aregenerative Anemia	Fever, Dyspnea, Abnormality of interleukin secretion	ORPHA:101096
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Chops Syndrome	Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, Trach...	OMIM:616368
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Ataxia, Pneumonia, Recurrent infections, Recurrent gastroente...	ORPHA:309282
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Tubulointerstitial nephritis, Increased circulating IgG ...	ORPHA:449395
Dyskeratosis Congenita, Autosomal Dominant 1	Ataxia, Dyspnea, Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis	OMIM:127550
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Ataxia, Respiratory tract infection, Recurrent tonsillitis, U...	ORPHA:581
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Seborrheic dermatitis, Truncal obesity, Aspiration pneumonia, Truncal ataxia	OMIM:301072
Tay-Sachs Disease	Inability to walk, Gait disturbance, Aspiration pneumonia, Dysmetria	ORPHA:845
Marshall-Smith Syndrome	Apnea, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Stridor, Aspiratio...	OMIM:602535
Degcags Syndrome	Fever, Recurrent urinary tract infections, Small for gestational age, Pneumonia, Asthma, Patent d...	OMIM:619488
Semilobar Holoprosencephaly	Central apnea, Inability to walk, Aspiration pneumonia, Lethargy, Temperature instability, Failur...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Inability to walk, Aspiration pneumonia, Lethargy, Temperature instability, Failur...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Inability to walk, Aspiration pneumonia, Lethargy, Temperature instability, Failur...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Inability to walk, Aspiration pneumonia, Lethargy, Temperature instability, Failur...	ORPHA:93924
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Mucopolysaccharidosis, Type Vi	Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar...	OMIM:253200
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Peritonitis, Patent duc...	OMIM:619991
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Patent ductus ar...	ORPHA:353281
Cornelia De Lange Syndrome 1	Pneumonia, Otitis media	OMIM:122470
Gm1 Gangliosidosis Type 1	Aspiration pneumonia	ORPHA:79255
Coffin-Siris Syndrome	Patent ductus arteriosus, Recurrent upper respiratory tract infections, Aspiration pneumonia, Rec...	ORPHA:1465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Asthma, Patent ductus arteriosus, Obesity, Aspiration pneumonia, Tracheomalacia, Pulmonary arteri...	ORPHA:444077
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Small for gestational age, Pneumonia, Truncal ataxia, Failure t...	OMIM:264090
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Patent d...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Patent d...	ORPHA:353277
Niemann-Pick Disease Type C	Ataxia, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Progressive gai...	ORPHA:646
Lafora Disease	Inability to walk, Gait disturbance, Recurrent aspiration pneumonia, Ataxia	ORPHA:501
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Yunis-Varon Syndrome	Small for gestational age, Failure to thrive in infancy, Aspiration pneumonia, Severe failure to ...	OMIM:216340
Pmm2-Cdg	Respiratory distress, Fever, Pericarditis, Ataxia, Aspiration pneumonia, Failure to thrive	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 Alox8

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 Alox8.

No publications found that use IMPC mice or data for Alox8.

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
Alox8^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Alox8^{tm37997(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Alox8^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us