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Gene: Muc5b MGI:1921430

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Gene Summary

Name:
mucin 5, subtype B, tracheobronchial
Synonyms:
2300002I04Rik,  MUC5,  MUC9

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
small liver Muc5bem1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Muc5bem1(IMPC)Mbp HOM   Early adult 3.63×10-07
abnormal liver morphology Muc5bem1(IMPC)Mbp HOM Early adult 0.00
decreased startle reflex Muc5bem1(IMPC)Mbp HOM Early adult 1.06×10-05
abnormal skin morphology Muc5bem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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Human diseases caused by Muc5b mutations

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

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

The table below shows human diseases associated to Muc5b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Interstitial Lung Disease 2
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... OMIM:178500
Idiopathic Pulmonary Fibrosis
Exertional dyspnea, Bronchiectasis, Crackles, Cough ORPHA:2032

The table below shows human diseases predicted to be associated to Muc5b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Pneumocystosis
Respiratory failure requiring assisted ventilation, Pneumocystis jirovecii pneumonia, Nonproducti... ORPHA:723
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Hypoxemia, Abnorma... ORPHA:70578
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Otitis externa, Menin... OMIM:618847
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Sepsis, Hypoxemia, Respiratory failure, Pulmonary ... ORPHA:70587
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Sepsis, S... ORPHA:36238
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Cyanosis, Pneumonia, Dyspnea, Inspiratory crackl... OMIM:610910
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Recurrent meningococcal disease, Recurrent Klebsiell... OMIM:614372
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneum... ORPHA:276
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... ORPHA:2257
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Increased circulating IgE level, Atopic... ORPHA:2902
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... ORPHA:229717
Scedosporiosis
Unusual skin infection, Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Peric... ORPHA:449280
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Sepsis, Dehydration, Decreased circulating antibody ... ORPHA:33355
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... OMIM:616022
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent pneumonia, Recurrent upper respi... OMIM:614868
Lymphoproliferative Syndrome 2
Severe varicella zoster infection, Recurrent pneumonia, Sepsis, EBV encephalitis, Uveitis, Decrea... OMIM:615122
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Growth delay, Recurrent upper respiratory tract infections, Sepsis, Hearing impairment OMIM:619599
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Decreased circulating antibody level, Conjunctivitis,... OMIM:616740
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Sepsis, Arthritis, Recurrent otitis media, Recurr... OMIM:620321
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Recurrent upper respiratory tract... ORPHA:436159
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Netherton Syndrome
Hypernatremic dehydration, Recurrent respiratory infections, Recurrent skin infections, Allergic ... OMIM:256500
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Edema, Reduced forced vital capacity, Nonproductive cough, Dysp... ORPHA:2302
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Agammaglobulinemia, X-Linked
Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious en... OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Sensor... ORPHA:47
Neonatal Alloimmune Neutropenia
Severe infection, Sepsis, Meningitis, Pneumonia ORPHA:464370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in... OMIM:618986
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Hypoxemia, Restrictive ventilat... OMIM:612387
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Invasiv... ORPHA:98813
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... ORPHA:542323
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis ORPHA:36237
Specific Granule Deficiency 2
Abnormal pinna morphology, Posteriorly rotated ears, Recurrent pneumonia, Sepsis, Recurrent bacte... OMIM:617475
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Conduc... ORPHA:443811
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi... OMIM:307200
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Respira... OMIM:619773
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchiti... OMIM:300455
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... ORPHA:47612
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Crackles, Dyspnea, Wheezing, Severe viral infection, Bronchiectasis, Hypoxemia... ORPHA:79128
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Lassa Fever
Facial edema, Dyspnea, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough, Hearing im... ORPHA:99824
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Increased circulating IgG level, Ascites ORPHA:284227
Pulmonary Arteriovenous Malformation
Brain abscess, Cyanosis, Epistaxis, Dyspnea, Hypoxemia, Pleural empyema, Recurrent abscess format... ORPHA:2038
Ventilator-Induced Diaphragmatic Dysfunction
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Sev... ORPHA:505395
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Idiopathic Bronchiectasis
Crackles, Productive cough, Dyspnea, Wheezing, Abnormal respiratory system physiology, Bronchiect... ORPHA:60033
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia ORPHA:464453
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Sepsis, Growth delay, Pancreatitis ORPHA:289916
Immunodeficiency 12
Short stature, Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Growth delay, Re... OMIM:615468
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Sepsis,... OMIM:602450
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r... ORPHA:51636
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Recurrent tonsillitis, Sever... ORPHA:2686
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, C... OMIM:610921
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension, Short stature, Sepsis OMIM:619059
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,... OMIM:209920
Placental Insufficiency
Hypoxemia, Intrauterine growth retardation, Proportionate short stature ORPHA:439167
Alg1-Cdg
Respiratory failure, Sepsis, Recurrent infections ORPHA:79327
Lamellar Ichthyosis
Recurrent respiratory infections, Short stature, Sepsis, Dehydration, Abnormal helix morphology, ... ORPHA:313
Achondroplasia
Rhizomelia, Disproportionate short stature, Hypoxemia, Restrictive ventilatory defect, Functional... ORPHA:15
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Edema, Severe varicella zoster infection, T... ORPHA:36234
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Sickle Cell Anemia
Hypoxemia, Osteomyelitis, Recurrent infections ORPHA:232
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Posteriorly rotated ears, Hypoxemia... OMIM:209880
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Pericardial effusion, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Ele... ORPHA:199241
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Meningitis, Chronic pulmonary obstruction, S... ORPHA:379
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Increased circulating an... ORPHA:319218
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis... ORPHA:292
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis OMIM:612840
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... OMIM:128980
Immunodeficiency 36 With Lymphoproliferation
Short stature, Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectas... OMIM:616005
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands, Sensorineural he... ORPHA:544503
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Legionnaires Disease
Pericarditis, Myocarditis, Recurrent pharyngitis, Hepatitis, Respiratory insufficiency, Endocardi... ORPHA:549
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short stature, Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Mic... ORPHA:79113
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Increased circulating IgE lev... OMIM:147060
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Increased circulating IgA level, Recurrent viral infections, Increased circulati... ORPHA:169154
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... ORPHA:37042
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Short stature, Hearing impairment, Patent ductus arteriosus, Hy... ORPHA:2282
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Nocardiosis
Respiratory distress, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, Emphysema, Infe... ORPHA:31204
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Sensorineural hearing impairm... ORPHA:36412
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Epistaxis, Sepsis, Growth delay, Nephritis OMIM:614034
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Polyhydramnios, Decreased circulating antibody level OMIM:616873
Cernunnos-Xlf Deficiency
Growth delay, Recurrent bacterial infections, Recurrent viral infections, Decreased circulating a... ORPHA:169079
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pericardial effusion, Dyspnea, Iridocyclitis, Bronchiectasis, U... OMIM:181000
Meningococcal Meningitis
Neonatal respiratory distress, Skin rash, Sepsis, Infectious encephalitis, Hearing impairment ORPHA:33475
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Pneumonia, Impaired T cell function, Recurrent vir... OMIM:613179
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... OMIM:612541
Hirschsprung Disease
Sensorineural hearing impairment, Short stature, Sepsis ORPHA:388
Pulmonary Alveolar Microlithiasis
Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:60025
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent pneumonia, ... ORPHA:293978
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis... OMIM:618985
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Pericardial effusion, Tachypnea, Hy... ORPHA:555874
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... ORPHA:90646
Omenn Syndrome
Pneumonia, Edema, Sepsis, Thyroiditis, Erythroderma ORPHA:39041
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Recurrent bacterial ... OMIM:619693
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pa... OMIM:617303
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec... OMIM:615816
Inhalational Anthrax
Respiratory distress, Dyspnea, Sepsis ORPHA:247257
Alg12-Cdg
Recurrent respiratory infections, Abnormal pinna morphology, Partial absence of specific antibody... ORPHA:79324
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Melioidosis
Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ... ORPHA:31202
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Recurrent bacterial infections, Sensorineural hearing impairment OMIM:610738
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis, Pedal edema ORPHA:439
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Patent ductus arteriosus, Tachypnea, Cyanosis ORPHA:860
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Meningitis, Abnormality of ... ORPHA:1546
Wiskott-Aldrich Syndrome
Recurrent herpes, Epistaxis, Eczema, Increased circulating IgA level, Reduced natural killer cell... OMIM:301000
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hypoxemia, Sensorineural hearing impairment, Mild postnatal growth retardation, Delayed puberty ORPHA:456312
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Recurrent vira... OMIM:618048
Mirage Syndrome
Recurrent urinary tract infections, Short stature, Patent ductus arteriosus, Sepsis, Recurrent ba... OMIM:617053
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Congenital Myopathy 13
Short stature, Hypercapnia, Hypoxemia, Restrictive ventilatory defect, Low-set ears, Conductive h... OMIM:255995
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... ORPHA:2020
Immunodeficiency 68
Recurrent skin infections, Lymphadenitis, Sepsis, Recurrent meningitis, Septic arthritis OMIM:612260
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni... ORPHA:911
Pericardial And Diaphragmatic Defect
Hypoxemia, Neonatal respiratory distress, Patent ductus arteriosus ORPHA:2847
Acquired Purpura Fulminans
Acrocyanosis, Skin rash, Sepsis ORPHA:49566
Listeriosis
Respiratory distress, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephalitis,... ORPHA:533
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Cyanosis, Disseminated viral ... ORPHA:90051
Sickle Cell Disease
Hypoxemia, Recurrent bacterial infections OMIM:603903
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Classic Galactosemia
Ascites, Sepsis, Delayed puberty ORPHA:79239
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Rh Deficiency Syndrome
Hypoxemia, Intrauterine growth retardation, Tachypnea, Oligohydramnios ORPHA:71275
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Sensorineural hearing impairment, Recurrent infections OMIM:614739
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Dehydration, Nephritis, Infectious encep... ORPHA:2552
Shwachman-Diamond Syndrome
Sinusitis, Short stature, Pneumonia, Eczema, Skin rash, Osteomyelitis, Recurrent viral infections... ORPHA:811
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
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... OMIM:300291
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Decre... ORPHA:331206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Sepsis, Stridor... ORPHA:505248
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Necrotizing Enterocolitis
Neonatal sepsis, Apnea, Edema, Peritonitis, Ascites ORPHA:391673
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Hearing impairment, Productive... ORPHA:244
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Cardiogenic Shock
Increased pulmonary capillary wedge pressure, Crackles, Dyspnea, Vertigo, Hypoxemia ORPHA:97292
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoxemia, Intrauterine growth retardation, Abnormal pinna morphology, Low-set ears ORPHA:556955
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Short stature, Abnormal pinna morphology, Abnormality of the middle ear... ORPHA:50815
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urina... ORPHA:221139
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Epistaxis, Eczema, Keratitis, Dyspnea, Meningitis, C... ORPHA:906
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Chronic Bilirubin Encephalopathy
Central apnea, Sensorineural hearing impairment, Neonatal sepsis, Abnormal auditory evoked potent... ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Sensorineural hearing impairment, Neonatal sepsis, Abnormal auditory evoked potent... ORPHA:529799
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recu... OMIM:606367
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Sepsis, Oligohydramnio... OMIM:619573
Cog4-Cdg
Growth delay, Recurrent upper respiratory tract infections, Recurrent infection of the gastrointe... ORPHA:263501
Generalized Pustular Psoriasis
Pustule, Cheilitis, Uveitis, Sepsis, Pedal edema, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Secondary Short Bowel Syndrome
Growth delay, Sepsis, Enterocolitis, Dehydration ORPHA:95427
Interstitial Lung And Liver Disease
Hypoxemia, Dyspnea, Respiratory insufficiency, Cough OMIM:615486
Eisenmenger Syndrome
Respiratory distress, Brain abscess, Generalized edema, Cyanosis, Increased pulmonary vascular re... ORPHA:97214
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis, Skin rash, Pneumonia, Macular edema ORPHA:247691
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative colitis, Dehydration, Arthritis,... ORPHA:810
Branchiootic Syndrome
Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ... ORPHA:52429
Peroxisome Biogenesis Disorder 12A (Zellweger)
Growth delay, Patent ductus arteriosus, Short stature, Sepsis OMIM:614886
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, E... ORPHA:79404
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormal... ORPHA:2549
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Short stature, Abnormality of the middle ear ossicles, Sensorineural he... OMIM:609166
Desmoid Tumor
Sepsis ORPHA:873
Immunodeficiency 54
Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret... OMIM:609981
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Acrocraniofacial Dysostosis
Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Abnormality of the m... ORPHA:949
Neonatal Marfan Syndrome
Neonatal respiratory distress, Hypoxemia, Low-set ears, Crumpled ear, Emphysema ORPHA:284979
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Sepsis, Restrictive ventilatory defect, C... ORPHA:537
Stevens-Johnson Syndrome
Recurrent respiratory infections, Dyspnea, Sepsis, Restrictive ventilatory defect, Conjunctivitis... ORPHA:36426
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Sepsis, Recurrent infections, Growth delay, Decreased circulating anti... ORPHA:79396
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Sepsis, Recurrent infections ORPHA:764
Hermansky-Pudlak Syndrome 2
Posteriorly rotated ears, Reduced natural killer cell activity, Impaired ADP-induced platelet agg... OMIM:608233
Plague
Respiratory distress, Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Meningitis,... ORPHA:707
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... OMIM:240300
Bor Syndrome
Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr... ORPHA:107
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Calciphylaxis
Sepsis ORPHA:280062
Absence Of The Pulmonary Artery
Orthopnea, Recurrent respiratory infections, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pn... ORPHA:980
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Athabaskan Brainstem Dysgenesis Syndrome
Sensorineural hearing impairment, Central hypoventilation OMIM:601536
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Neuroleptic Malignant Syndrome
Dehydration, Sepsis, Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Mixed hearing impairment, Thickened helices, Abnormality of t... ORPHA:581
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Low-set ... ORPHA:314655
Late-Onset Isolated Acth Deficiency
Vertigo, Sepsis, Hepatitis, Hashimoto thyroiditis ORPHA:199299
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Mogs-Cdg
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Generalized edema, Ap... ORPHA:79330
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Short stature, Recurrent pneumonia, Cheilitis, Sepsis ORPHA:158668
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Skin rash, Epistaxis, Recu... ORPHA:167
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Postnatal growth retardation, Recurrent bacterial infections, Severe in... OMIM:241410
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, Po... OMIM:242840
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Patent ductus arteriosus, Cupped ear, Sepsis, Recurrent infect... ORPHA:363611
Mannosidosis, Alpha B, Lysosomal
Sensorineural hearing impairment, Decreased circulating antibody level, Growth delay, Recurrent b... OMIM:248500
Lateral Meningocele Syndrome
Short stature, Posteriorly rotated ears, Abnormality of the middle ear ossicles, Patent ductus ar... OMIM:130720
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... ORPHA:2789
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Pneumonia, Eczema, Patent ductus arteriosu... OMIM:619991
Congenital Disorder Of Glycosylation, Type Iib
Hypoventilation, Sensorineural hearing impairment, Decreased circulating IgA level, Decreased cir... OMIM:606056
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Postnatal growth retardation, Neonatal asphyxia, Microtia, Recurrent otitis media, Intrauterine g... ORPHA:2728
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Chromomycosis
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Recurrent bacterial infections... ORPHA:182
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Recurrent bacterial infect... ORPHA:99104
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment OMIM:251800
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Postnatal growth retardation, Dyspnea, Pulmonary ven... ORPHA:75249
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Growth delay, Bilateral sensorineural hearing impairment, Sepsis, Profound hearing impairment OMIM:619418
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth retardation OMIM:620326
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... OMIM:614172
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Radiation Proctitis
Sepsis, Arteritis ORPHA:70475
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis, Polyhydramnios OMIM:619362
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Brain abscess, Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Restri... OMIM:187300
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Posteriorly rotated ears, Central hypoventilation, Low-set ears OMIM:611961
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Immunodeficiency 47
Decreased circulating total IgG, Sensorineural hearing impairment, Decreased circulating antibody... OMIM:300972
Bloom Syndrome
Postnatal growth retardation, Recurrent upper respiratory tract infections, Bronchiectasis, Malar... OMIM:210900
Ullrich Congenital Muscular Dystrophy 1
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Protruding ear, Noct... OMIM:254090
Trisomy 8P
Posteriorly rotated ears, Recurrent upper respiratory tract infections, Aplasia/Hypoplasia of the... ORPHA:264450
Kenny-Caffey Syndrome, Type 1
Birth length less than 3rd percentile, Intrauterine growth retardation, Recurrent bacterial infec... OMIM:244460
Isolated Cleft Lip
Chronic otitis media, Conductive hearing impairment, Abnormal Eustachian tube morphology, Polyhyd... ORPHA:199302
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Bronchiectasis, Hepati... OMIM:619381
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Apnea, Central hypoventilation, Respiratory insufficiency OMIM:300673
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... ORPHA:70
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Sepsis, Polyhydramnios ORPHA:2241
Menkes Disease
Intrauterine growth retardation, Osteomyelitis, Sepsis ORPHA:565
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency OMIM:618222
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Severe infec... ORPHA:79138
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Currarino Syndrome
Perianal abscess, Recurrent urinary tract infections, Sepsis OMIM:176450
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Short stature, Posteriorly rotated ears, Postnatal growth retardation, Recurrent infe... OMIM:611209
Perry Syndrome
Hypoventilation, Respiratory arrest, Central hypoventilation, Respiratory insufficiency OMIM:168605
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Breathing dysregulation OMIM:618232
Caroli Syndrome
Pancreatitis, Sepsis, Cholangitis ORPHA:480520
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Growth delay, Recurrent bacterial infections, Inflammation of the large in... OMIM:615895
Haddad Syndrome
Central hypoventilation, Polyhydramnios, Breathing dysregulation, Sensorineural hearing impairmen... ORPHA:99803
Interstitial Lung Disease 2
Dyspnea, Increased circulating antibody level, Cough, Decreased DLCO, Pulmonary arterial hyperten... OMIM:178500
Infantile Systemic Hyalinosis
Growth delay, Recurrent bacterial infections, Severe short stature, Lymphedema ORPHA:2176
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Postpoliomyelitis Syndrome
Hypoventilation, Respiratory insufficiency ORPHA:2942
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Short stature, Recurrent pneumonia, Sepsis, Growth delay, Intrauterine grow... ORPHA:99646
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Edema, Pulmonary embolism, Increased pulmonary vascular re... ORPHA:70591
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Sensorineural hearing impairment, Intrauterine growth retardation OMIM:620275
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Short stature, Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Growth delay, Thyroiditis, Inf... ORPHA:79259
Myasthenic Syndrome, Congenital, 20, Presynaptic
Stridor, Hypoventilation, Apnea OMIM:617143
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Recurrent otitis media, Abnormal Eustachian tube morphology ORPHA:513456
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator... ORPHA:258
Glycogen Storage Disease Ib
Short stature, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Delayed... OMIM:232220
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hypoventilation, Recurrent pneumonia, Short stature OMIM:618493
Sandhoff Disease, Infantile Form
Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Hepatitis, Ulcerative colitis, Uveitis, Polyclonal elevat... ORPHA:171
Lysinuric Protein Intolerance
Glomerulonephritis, Respiratory insufficiency, Decreased circulating antibody level, Tubulointers... ORPHA:470
Branchiootorenal Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:113650
Muscular Dystrophy, Duchenne Type
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... OMIM:310200
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Rabin-Pappas Syndrome
Tracheomalacia, Hypoventilation, Sensorineural hearing impairment, Conductive hearing impairment OMIM:620155
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Acute Liver Failure
Skin rash, Abnormal respiratory system physiology, Hepatic necrosis, Hepatocellular necrosis, Hep... ORPHA:90062
Sandhoff Disease
Hepatomegaly, Exaggerated startle response, Hepatosplenomegaly OMIM:268800
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Marshall-Smith Syndrome
Apnea, Short stature, Hearing impairment, Patent ductus arteriosus, Recurrent upper respiratory t... OMIM:602535
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Short stature, Progressive pulmonary function... ORPHA:77293
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Severe short stature, Eczema, Keratitis, Cheiliti... ORPHA:2273
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Prader-Willi Syndrome
Hypoventilation, Recurrent respiratory infections, Short stature, Polyhydramnios, Delayed puberty... OMIM:176270
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir... ORPHA:293987
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Recurrent urinary tract infections, Spontaneous pneumothorax, Cholangitis, Recur... ORPHA:731
Aregenerative Anemia
Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Idiopathic Pulmonary Fibrosis
Exertional dyspnea, Bronchiectasis, Crackles, Cough ORPHA:2032
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Tay-Sachs Disease
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure ORPHA:610
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia, Hepatosplenomegaly ORPHA:79255
Exercise-Induced Malignant Hyperthermia
Vertigo, Tachypnea, Crackles, Hypocapnia ORPHA:466650
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, Dystonia ORPHA:438216
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Sensorineural hearing impairment, Respiratory insufficiency ORPHA:99949
Warburg-Cinotti Syndrome
Posteriorly rotated ears, Pneumothorax, Joint swelling, Atresia of the external auditory canal, L... OMIM:618175
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response OMIM:617301
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Dehydration, Short stature, Acne, Hypocapnia ORPHA:90794
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia ORPHA:521426
Asparagine Synthetase Deficiency
Tremor, Exaggerated startle response OMIM:615574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response OMIM:617527
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Growth delay, Recurrent Staphylococcus aureus infections, Septic arthri... ORPHA:642
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tracheomalacia, Hypoventilation, Anasarca, Ascites OMIM:203700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Short stature, Breathing dysregulation, Patent ductus arteriosus, Aspirat... ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Sotos Syndrome
Conductive hearing impairment, Patent ductus arteriosus, Pedal edema, Pulmonary bleb, Chronic oti... ORPHA:821
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response OMIM:619522

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 Muc5b

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 Muc5b.

No publications found that use IMPC mice or data for Muc5b.

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
Muc5btm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Muc5bem1(IMPC)Mbp Exon Deletion Mice

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