Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased prepulse inhibition Muc5bem1(IMPC)Mbp HOM   Early adult 3.63×10-07
abnormal auditory brainstem response Muc5bem1(IMPC)Mbp HOM   Early adult 5.94×10-05
abnormal skin morphology Muc5bem1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Muc5bem1(IMPC)Mbp HOM Early adult 0.00
decreased startle reflex Muc5bem1(IMPC)Mbp HOM Early adult 1.06×10-05
small liver Muc5bem1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Dorso Ventral

33 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis, Bronchiectasis ORPHA:2032
Interstitial Lung Disease 2
Cirrhosis OMIM:178500

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 66
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections, Otitis ex... OMIM:618847
Acute Lung Injury
Pneumonia, Sepsis, Abnormality of tumor necrosis factor secretion, Respiratory distress, Abnormal... ORPHA:178320
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Meningitis, Recurrent lower respirator... OMIM:308230
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... ORPHA:70578
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Increased circulating IgE ... OMIM:243700
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Short stature, Recurrent bacterial infe... OMIM:616022
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infections, Osteom... ORPHA:33110
Reticular Dysgenesis
Sepsis, Hearing impairment, Skin rash, Recurrent respiratory infections, Decreased circulating an... ORPHA:33355
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Infant Acute Respiratory Distress Syndrome
Pneumonia, Sepsis, Cyanosis, Pulmonary edema, Tachypnea, Nasal flaring, Hypoxemia ORPHA:70587
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ... OMIM:301082
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Meningitis, Conjunctivitis, Decreased circulating ant... OMIM:616740
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Growth delay, Hearing impairment OMIM:619599
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the... ORPHA:229717
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in... OMIM:613494
T-Cell Immunodeficiency With Thymic Aplasia
Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportunistic infection, Recurrent candi... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati... ORPHA:723
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Staphylococcal Necrotizing Pneumonia
Pneumonia, Sepsis, Respiratory distress, Pleural effusion, Tachypnea, Severe infection, Acute inf... ORPHA:36238
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Sepsis, Ascites, EBV meningitis, EBV encephalitis, Severe varicella zoster i... OMIM:615122
Immunodeficiency 110 With Lymphoproliferation
Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Ch... OMIM:614868
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C... OMIM:620321
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased ... ORPHA:276
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Decreased ... ORPHA:436159
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
X-Linked Agammaglobulinemia
Recurrent pneumonia, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Sensorineural hearing impairmen... ORPHA:47
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections, Sepsis ORPHA:36237
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent mycobacterial inf... ORPHA:98813
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Angioedema, Hy... OMIM:256500
Avian Influenza
Pneumonia, Myelitis, Sepsis, Hepatitis, Respiratory distress, Pleural effusion, Infectious enceph... ORPHA:454836
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat... ORPHA:542323
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... OMIM:614700
Specific Granule Deficiency 2
Low-set ears, Recurrent pneumonia, Sepsis, Recurrent otitis media, Simple ear, Recurrent bacteria... OMIM:617475
Agammaglobulinemia, X-Linked
Hearing impairment, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Re... OMIM:300755
Primary Pulmonary Hypoplasia
Low-set ears, Intrauterine growth retardation, Apnea, Cyanosis, Tachypnea, Recurrent respiratory ... ORPHA:2257
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Esophagitis, Sens... ORPHA:443811
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection, Sepsis ORPHA:464370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Lymphadenitis, Recurrent otitis med... OMIM:618986
Scedosporiosis
Pneumonia, Unusual CNS infection, Sepsis, Unusual skin infection, Invasive fungal infection, Oste... ORPHA:449280
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Felty Syndrome
Recurrent infections, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respira... ORPHA:47612
Severe Acute Respiratory Syndrome
Respiratory distress, Hypoxemia, Acute infectious pneumonia ORPHA:140896
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Postnatal gro... OMIM:620632
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Cholesteatoma, Tachypnea, Recurrent respir... OMIM:610978
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia ORPHA:91359
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Hypoxemia, Acute infectious pneumonia ORPHA:264675
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Hearing impairment, Panhypogammaglobulinemia, Recurr... OMIM:307200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Pa... ORPHA:572
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Atopic dermatitis, Pleural effusion, Hypoxemia ORPHA:2902
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... ORPHA:169090
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Recurrent bronchitis, Otitis media, Chronic sinusitis, Recurre... OMIM:300455
Meconium Aspiration Syndrome
Respiratory distress, Intrauterine growth retardation, Hypoxemia, Aspiration pneumonia ORPHA:70588
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... OMIM:620449
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
High Altitude Pulmonary Edema
Vertigo, Cyanosis, Pulmonary edema, Tachypnea, Hypoxemia ORPHA:330012
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Polyhydr... OMIM:616873
Lamellar Ichthyosis
Abnormal helix morphology, Sepsis, Erythroderma, Short stature, Recurrent respiratory infections,... ORPHA:313
Bronchiolitis Obliterans
Pneumonia, Hypoxemia, Bronchiectasis ORPHA:1303
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Brain abscess, Cyanosis, Recurrent respiratory infections, Hypoxemia OMIM:610910
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Sepsis, Pancreatitis, Growth delay ORPHA:289916
Tempi Syndrome
Ascites, Increased circulating IgG level, Hypoxemia, Transudative pleural effusion ORPHA:284227
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Recurrent upper respiratory tract infections,... OMIM:618944
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ... OMIM:300636
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Acute Interstitial Pneumonia
Peripheral edema, Pleural effusion, Cyanosis, Tachypnea, Pericardial effusion, Hypoxemia, Bronchi... ORPHA:79126
Cyclic Neutropenia
Sepsis, Periodontitis, Recurrent tonsillitis, Opportunistic infection, Otitis media, Peritonitis,... ORPHA:2686
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Seps... ORPHA:51636
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, BCGitis, Panhypogammaglobulinemi... OMIM:602450
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Pleural effusion, Erythema nodosum, Hypoxemia, Uveitis OMIM:612387
Immunodeficiency 12
Recurrent viral infections, Growth delay, Recurrent aphthous stomatitis, Complete or near-complet... OMIM:615468
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent candida infec... ORPHA:169154
Bacterial Toxic-Shock Syndrome
Tachypnea, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Pe... ORPHA:36234
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Sepsis, Acne inversa, Herpes simplex enc... OMIM:233600
Acquired Methemoglobinemia
Respiratory distress, Hypoxemia, Vertigo, Cyanosis ORPHA:464453
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Respiratory distress, Interstitial pneumonitis, Cyanosis, Nonspecific inters... OMIM:610913
Central Hypoventilation Syndrome, Congenital, 1
Low-set ears, Central hypoventilation, Nocturnal hypoventilation, Apnea, Hypoventilation, Posteri... OMIM:209880
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Panbronchiolitis, Diffuse
Hypoxemia, Bronchiectasis OMIM:604809
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Congenital Enterovirus Infection
Fetal ascites, Sepsis, Hepatitis, Respiratory distress, Pleural effusion, Skin rash, Polyhydramni... ORPHA:292
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections,... ORPHA:169079
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Hirschsprung Disease
Short stature, Sepsis, Sensorineural hearing impairment ORPHA:388
Lassa Fever
Facial edema, Sepsis, Hearing impairment, Conjunctivitis, Increased circulating IgM level ORPHA:99824
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... ORPHA:3216
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis, Respiratory distress, Sensorineural hearing impairment, Edema of the dorsum of hands, Ede... ORPHA:544503
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Meningiti... ORPHA:2968
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis, Bronchiectasis ORPHA:2032
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Delayed pub... OMIM:618985
Achondroplasia
Rhizomelia, Disproportionate short stature, Hearing impairment, Functional abnormality of the mid... ORPHA:15
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent viral infections, Recurrent upper respiratory tract infections, Se... ORPHA:293978
Deafness, Conductive, With Malformed External Ear
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal pin... OMIM:221300
Placental Insufficiency
Intrauterine growth retardation, Hypoxemia, Proportionate short stature ORPHA:439167
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Sensorineural hearing impairment, Agammaglobulinemia, Seborrheic dermatiti... OMIM:619693
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Brain abscess, Cyanosis, Hypoxemia, Pleural empyema, Recurrent abscess fo... ORPHA:2038
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Conductive hearing impairment, Sensorineural hearing impairment OMIM:610738
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Bronchiectasis ORPHA:79127
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Cyanosis ORPHA:1302
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Short stature, Sepsis OMIM:619059
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis, Edema ORPHA:2302
Chronic Granulomatous Disease
Sepsis, Eczematoid dermatitis, Otitis media, Sinusitis, Inflammatory abnormality of the eye, Meni... ORPHA:379
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Skin rash, Keratoconjunctivi... ORPHA:79128
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis OMIM:612840
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Nephritis, Sepsis, Growth delay OMIM:614034
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Abnormal circulating IgM level, Neutrophilic infiltration of the skin... OMIM:618048
Alg12-Cdg
Recurrent pneumonia, Sepsis, Abnormal circulating IgM level, Intrauterine growth retardation, Com... ORPHA:79324
Mucopolysaccharidosis-Plus Syndrome
Nephritis, Recurrent pneumonia, Sepsis, Bone marrow hypocellularity, Respiratory distress, Recurr... OMIM:617303
Immunodeficiency 68
Sepsis, Lymphadenitis, Septic arthritis, Recurrent meningitis, Recurrent skin infections OMIM:612260
Alg1-Cdg
Recurrent infections, Sepsis ORPHA:79327
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hearing impairment, Intrauterine growth retardation, Short stature, Recurrent respiratory infecti... ORPHA:2282
Acquired Purpura Fulminans
Sepsis, Acrocyanosis, Skin rash ORPHA:49566
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Tachypnea, Hypoxemia, Patent ductus arteriosus ORPHA:860
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Hearing impairment, Recurrent urinary tract... OMIM:612541
Omenn Syndrome
Pneumonia, Thyroiditis, Sepsis, Erythroderma, Edema ORPHA:39041
Ebola Hemorrhagic Fever
Sepsis, Hepatitis, Increased circulating antibody level, Maculopapular exanthema, Acute pancreatitis ORPHA:319218
Classic Galactosemia
Ascites, Sepsis, Delayed puberty ORPHA:79239
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ... OMIM:301000
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Impaired T c... OMIM:613179
Kid Syndrome
Prelingual sensorineural hearing impairment, Posterior blepharitis, Folliculitis, Acne inversa, K... ORPHA:477
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Nonspecific interstitial pneumonia, Tachypnea, Hypoxemia OMIM:610921
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections, Sensorineural hearing impairment OMIM:614739
Melioidosis
Pneumonia, Sepsis, Unusual skin infection, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Paro... ORPHA:31202
Legionnaires Disease
Bone marrow hypocellularity, Sepsis, Hepatitis, Infectious encephalitis, Pancreatitis, Recurrent ... ORPHA:549
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Hyperoxemia ORPHA:70589
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Intrauterine growth retardation... OMIM:617053
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Mild postnatal growth retardation, Delayed puberty, Hypoxemia, Sensorineural hearing impairment ORPHA:456312
Mohr-Tranebjaerg Syndrome
Optic atrophy, Prelingual sensorineural hearing impairment, Generalized dystonia, Abnormality of ... ORPHA:52368
Immunodeficiency 23
Allergic rhinitis, Recurrent staphylococcal infections, Conductive hearing impairment, Chronic mu... OMIM:615816
Meningococcal Meningitis
Skin rash, Sepsis, Hearing impairment, Infectious encephalitis ORPHA:33475
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
Ectodermal Dysplasia And Immunodeficiency 1
Lymphedema, Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating IgG... OMIM:300291
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Recurrent viral infections, Lymphadenitis, Recurrent enteroviral... ORPHA:331206
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Facial pa... OMIM:617519
Rat-Bite Fever
Sepsis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthri... ORPHA:31205
Congenital Tricuspid Valve Dysplasia
Intrauterine growth retardation, Cyanosis, Tachypnea, Pericardial effusion, Hypoxemia ORPHA:555874
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Complement Factor I Deficiency
Recurrent meningitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis,... OMIM:610984
Nocardiosis
Pneumonia, Unusual CNS infection, Sepsis, Lymphadenitis, Cutaneous abscess, Keratitis, Brain absc... ORPHA:31204
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... ORPHA:911
Listeriosis
Pneumonia, Unusual CNS infection, Arteritis, Sepsis, Hearing impairment, Unusual skin infection, ... ORPHA:533
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Eczematoid der... OMIM:606367
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pleural effusion, Abnormality of T cell physiology, Increase... OMIM:181000
Cog4-Cdg
Neonatal sepsis, Recurrent upper respiratory tract infections, Recurrent infection of the gastroi... ORPHA:263501
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Cryptococcosis
Pneumonia, Abnormality of the outer ear, Sepsis, Respiratory distress, Osteomyelitis, Pleural eff... ORPHA:1546
Shwachman-Diamond Syndrome
Pneumonia, Abnormality of the outer ear, Bone marrow hypocellularity, Recurrent viral infections,... ORPHA:811
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Ventilator-Induced Diaphragmatic Dysfunction
Severe infection, Sepsis, Hypercapnia ORPHA:505395
Generalized Pustular Psoriasis
Sepsis, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Pedal edema, Uveitis ORPHA:247353
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni... ORPHA:2552
Rh Deficiency Syndrome
Intrauterine growth retardation, Tachypnea, Oligohydramnios, Hypoxemia ORPHA:71275
Secondary Short Bowel Syndrome
Enterocolitis, Sepsis, Dehydration, Growth delay ORPHA:95427
Pulmonary Capillary Hemangiomatosis
Pleural effusion, Cyanosis, Pulmonary edema, Pericardial effusion, Hypoxemia, Pedal edema ORPHA:199241
Sepsis In Premature Infants
Invasive fungal infection, Cyanosis, Enterocolitis, Severe infection, Meningitis, Increased circu... ORPHA:90051
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis, Pedal edema ORPHA:439
Necrotizing Enterocolitis
Ascites, Apnea, Cyanosis, Peritonitis, Neonatal sepsis, Edema ORPHA:391673
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Episcleritis, Skin rash, Pleural effusion, Sensorineural hearing impairment,... ORPHA:36412
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Sepsis, Growth delay, Patent ductus arteriosus OMIM:614886
Sickle Cell Disease
Recurrent bacterial infections, Hypoxemia OMIM:603903
Congenital Myopathy 13
Low-set ears, Conductive hearing impairment, Short stature, Hypoxemia, Hypercapnia OMIM:255995
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... ORPHA:486
Diffuse Alveolar Hemorrhage
Hypoxemia ORPHA:90060
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Absent stapes head, Abnormality of the malleus, Congenit... OMIM:128980
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Absent tragus, Abnormality of the outer ear, Conductive hearing impairment, Atresia... ORPHA:79113
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... OMIM:607676
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
Desmoid Tumor
Sepsis ORPHA:873
Inhalational Anthrax
Respiratory distress, Sepsis ORPHA:247257
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Pulmonary Alveolar Microlithiasis
Oxygen desaturation on exertion, Peripheral edema, Cyanosis, Tachypnea, Hypoxemia, Bronchiectasis ORPHA:60025
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Anasarca, Ascites, Intrauterine growth re... OMIM:619573
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Truncal titubation, Decreased motor n... OMIM:610532
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,... OMIM:102700
Sickle Cell Anemia
Osteomyelitis, Recurrent infections, Hypoxemia ORPHA:232
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Polyhydramnios, Recurrent respiratory infections, Hypoxemia, Hypercapnia ORPHA:2020
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Respiratory distress, Recur... ORPHA:505248
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Developmental And Epileptic Encephalopathy 111
Low-set ears, Recurrent respiratory infections, Sepsis OMIM:620504
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Recurrent viral infections, Hepatitis, Eczematoid dermatitis, ... OMIM:620565
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:306400
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczematoid dermatitis OMIM:300299
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Sepsis, Decreased circulating antibody level, Recurrent infections, Recurrent skin infections, Gr... ORPHA:79396
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... ORPHA:221139
Pericardial And Diaphragmatic Defect
Hypoxemia, Patent ductus arteriosus ORPHA:2847
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Sepsis, Otiti... ORPHA:906
Shigellosis
Pneumonia, Sepsis, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute... ORPHA:810
Pancreatic Agenesis-Holoprosencephaly Syndrome
Low-set ears, Intrauterine growth retardation, Hypoxemia, Abnormal pinna morphology ORPHA:556955
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Macular edema, Sepsis, Skin rash ORPHA:247691
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... ORPHA:48435
Pyomyositis
Myositis, Recurrent infections, Sepsis, Recurrent cutaneous abscess formation ORPHA:764
Chronic Bilirubin Encephalopathy
Neonatal sepsis, Abnormal auditory evoked potentials, Central apnea, Sensorineural hearing impair... ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis, Abnormal auditory evoked potentials, Central apnea, Sensorineural hearing impair... ORPHA:529799
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections, Acute ... ORPHA:60033
Eisenmenger Syndrome
Bacterial endocarditis, Generalized edema, Brain abscess, Respiratory distress, Ascites, Vertigo,... ORPHA:97214
Hermansky-Pudlak Syndrome 2
Low-set ears, Recurrent pneumonia, Periodontitis, Recurrent otitis media, Reduced natural killer ... OMIM:608233
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Cardiogenic Shock
Vertigo, Cyanosis, Hypoxemia, Edema ORPHA:97292
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Plague
Inflammation of the large intestine, Sepsis, Lymphadenitis, Hearing impairment, Chapped lip, Resp... ORPHA:707
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Calciphylaxis
Sepsis ORPHA:280062
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interleukin concentration, Recurrent viral infections, Recurrent enteroviral... ORPHA:79124
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Sepsis, Dehydration, Recurrent urinary tract infections, Respiratory distress, Pyoderm... ORPHA:79404
Late-Onset Isolated Acth Deficiency
Hashimoto thyroiditis, Sepsis, Vertigo, Hepatitis ORPHA:199299
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Toxic Epidermal Necrolysis
Sepsis, Respiratory distress, Pancreatitis, Conjunctivitis, Recurrent respiratory infections ORPHA:537
Neonatal Marfan Syndrome
Low-set ears, Crumpled ear, Hypoxemia ORPHA:284979
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Bronchiectasis, Conductive hearing impairment, Hearing impair... ORPHA:244
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Recurrent gram-negative bacteria... OMIM:116920
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Low-set ears, Postnatal growth retardation, Severe intrauterine growth retardation, Recurrent bac... OMIM:241410
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Vici Syndrome
Low-set ears, Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chro... OMIM:242840
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Smith-Magenis Syndrome
Short stature, Abnormal middle ear morphology, Abnormality of the outer ear, Hearing impairment OMIM:182290
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... ORPHA:50815
Mannosidosis, Alpha B, Lysosomal
Sensorineural hearing impairment, Recurrent bacterial infections, Decreased circulating antibody ... OMIM:248500
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Interstitial Lung And Liver Disease
Hypoxemia OMIM:615486
Chromomycosis
Predominantly lower limb lymphedema, Keratitis, Lymphedema, Keratoconjunctivitis sicca, Recurrent... ORPHA:182
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Polyhydramnios, Sepsis OMIM:619362
Mogs-Cdg
Generalized edema, Decreased circulating IgG level, Respiratory distress, Decreased circulating I... ORPHA:79330
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventila... ORPHA:314655
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Stevens-Johnson Syndrome
Conjunctivitis, Recurrent respiratory infections, Sepsis, Pancreatitis ORPHA:36426
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Bilateral sensorineural hearing impairment, Sepsis, Profound hearing impairment, Growth delay OMIM:619418
Neuroleptic Malignant Syndrome
Sepsis, Dehydration, Aspiration pneumonia ORPHA:94093
Radiation Proctitis
Colitis, Arteritis, Ulcerative colitis, Sepsis ORPHA:70475
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium a... OMIM:614172
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Ch├ędiak-Higashi Syndrome
Recurrent staphylococcal infections, Abnormality of neutrophil physiology, Periodontitis, Recurre... ORPHA:167
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis, Chapped lip, Recurrent skin infections, Short stature, Cheilitis ORPHA:158668
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent fungal infections, Erythroderma, Recurrent bacte... OMIM:603554
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Sensorineural hearing i... OMIM:300972
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Intrauterine growth retardation, Birth length less than 3rd perce... OMIM:244460
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Branchiogenic-Deafness Syndrome
Atresia of the external auditory canal, Sensorineural hearing impairment, Mixed hearing impairmen... OMIM:609166
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Sensorineural hearing impa... ORPHA:2549
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Xerostomia, Sepsis, Respiratory distr... ORPHA:95455
Menkes Disease
Osteomyelitis, Intrauterine growth retardation, Sepsis ORPHA:565
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Polyhydramnios, Sepsis ORPHA:2241
Liver Disease, Severe Congenital
Pneumonia, Sepsis, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis me... OMIM:619991
Acrocraniofacial Dysostosis
Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensorineural hearing impairmen... ORPHA:949
Currarino Syndrome
Perianal abscess, Sepsis, Recurrent urinary tract infections OMIM:176450
Cockayne Syndrome Type 1
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hearing impairment, Abnor... ORPHA:90321
Ctcf-Related Neurodevelopmental Disorder
Sepsis, Cupped ear, Low-set, posteriorly rotated ears, Recurrent lower respiratory tract infectio... ORPHA:363611
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Hep... OMIM:609136
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Caroli Syndrome
Cholangitis, Sepsis, Pancreatitis ORPHA:480520
Congenital Disorder Of Glycosylation, Type Iib
Generalized edema, Decreased circulating IgA level, Hypoventilation, Sensorineural hearing impair... OMIM:606056
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythroderma, Recurren... OMIM:615895
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Cerebrotendinous Xanthomatosis
Optic atrophy, Cholelithiasis, Abnormal auditory evoked potentials, Abnormal motor evoked potenti... ORPHA:909
Absence Of The Pulmonary Artery
Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Patent ductus arteriosus, Recurrent r... ORPHA:980
Infantile Systemic Hyalinosis
Recurrent bacterial infections, Growth delay, Severe short stature, Lymphedema ORPHA:2176
Sweet Syndrome
Inflammation of the large intestine, Abnormal circulating interleukin concentration, Acne inversa... ORPHA:3243
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic mucocutaneous candidiasis, Tympanosclerosis, Keratoconjunctivitis, Ir... OMIM:240300
Chediak-Higashi Syndrome
Periodontitis, Recurrent systemic pyogenic infections, Recurrent infections, Recurrent bacterial ... OMIM:214500
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Joint swelling, Symmetric polyarthritis, Synoviti... ORPHA:85435
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Enlarged cochlear aqueduct, Stenosis ... ORPHA:107
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Orthostatic hypotension, Exaggerated startle response OMIM:268800
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Delayed puberty, Recurrent bacterial inf... OMIM:232220
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... ORPHA:3236
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent pneumonia, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Cutaneo... OMIM:147060
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, Sepsis, Respiratory distress, Intrauterine growth retardation, Short stature... ORPHA:99646
Sandhoff Disease, Infantile Form
Hepatosplenomegaly, Exaggerated startle response ORPHA:309155
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:133540
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Splenome... OMIM:216400
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Absent gallbladder... ORPHA:171929
Cystic Fibrosis
Hearing impairment, Recurrent respiratory infections, Recurrent Burkholderia cepacia infections, ... ORPHA:586
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Optic nerve hypoplasia, Macrotia, EEG with generalized slow activity OMIM:617864
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Oculopharyngodistal Myopathy 1
Respiratory distress, Aspiration, Hypercapnia, Sensorineural hearing impairment OMIM:164310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Growth delay, Gout, Enterocolitis, Pancreatit... ORPHA:79259
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Cyanosis, Recurrent bacterial infections ORPHA:99104
Telangiectasia, Hereditary Hemorrhagic, Type 1
Hypoxemia, Brain abscess, Cyanosis OMIM:187300
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:3261
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Cyanosis, Pedal edema, Recurrent bacterial infections ORPHA:99103
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apneic episodes in infancy, Apnea, Hypercapnia OMIM:618222
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Conductive hearing impairment, Hearing impairment, Aspiration pneumonia, O... ORPHA:581
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Short stature, Abnormality of the middle ear ossicle... OMIM:130720
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Lateral Meningocele Syndrome
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Sensorineura... ORPHA:2789
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Severe infection, Recurrent gastroenteritis ORPHA:79138
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Short stature, Recurrent pneumonia, Hypoventilation OMIM:618493
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Microtia, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear OMIM:251800
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Intrauterine growth retardation, Hypoventilation, Sensorineural hearing impairment OMIM:620275
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Severe short stature, Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcle... ORPHA:2273
Lysinuric Protein Intolerance
Increased circulating antibody level, Recurrent bacterial infections, Membranous nephropathy, Pan... ORPHA:470
Developmental And Epileptic Encephalopathy 49
Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response OMIM:617281
Isolated Cleft Lip
Abnormal Eustachian tube morphology, Conductive hearing impairment, Chronic otitis media, Polyhyd... ORPHA:199302
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Multiple Mitochondrial Dysfunctions Syndrome 7
Decreased liver function, EEG with burst suppression, Hypsarrhythmia, Exaggerated startle respons... OMIM:620423
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Hepatosplenomegaly, Exaggerated startle response, Macrotia ORPHA:79255
Asparagine Synthetase Deficiency
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... OMIM:615574
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... ORPHA:521426
Myasthenic Syndrome, Congenital, 20, Presynaptic
Apnea, Hypoventilation OMIM:617143
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Hypoventilation ORPHA:70
Trisomy 8P
Recurrent upper respiratory tract infections, Conductive hearing impairment, Aplasia/Hypoplasia o... ORPHA:264450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Recurrent lower respiratory tract infections, Hypoventilation ORPHA:98915
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Optic atrophy, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated startle response, Dyst... ORPHA:845
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:617301
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Recurrent lower respiratory tract infections, Cerebral edema, Aspiration ORPHA:258
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Chronic Visceral Acid Sphingomyelinase Deficiency
Short stature, Delayed puberty, Interstitial pneumonitis, Abnormal blood gas level ORPHA:77293
Rabin-Pappas Syndrome
Conductive hearing impairment, Hypoventilation, Sensorineural hearing impairment OMIM:620155
Prader-Willi Syndrome
Intrauterine growth retardation, Oligohydramnios, Hypoventilation, Delayed puberty, Polyhydramnio... OMIM:176270
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Malignant Hyperthermia, Susceptibility To, 5
Hypercapnia OMIM:601887
Perry Syndrome
Hypoventilation, Central hypoventilation OMIM:168605
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Recurrent upper respiratory tract infections, Central hypoventilation, Cyanosis, Hypoventilation,... ORPHA:293987
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:620451
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation OMIM:618232
Chronic Thromboembolic Pulmonary Hypertension
Hypocapnia, Osteomyelitis, Inflammation of the large intestine, Edema ORPHA:70591
Acute Liver Failure
Hepatitis, Skin rash, Hypocapnia, Hyperventilation, Cerebral edema ORPHA:90062
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Recurrent pneumonia, Recurrent urinary tract infections, Ascites, Oligohydramnios, ... ORPHA:731
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Hypoventilation, Aspiration pneumonia OMIM:619482
Postpoliomyelitis Syndrome
Hypoventilation ORPHA:2942
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Fraser Syndrome 1
Low-set ears, Cupped ear, Atresia of the external auditory canal, Conductive hearing impairment, ... OMIM:219000
Exercise-Induced Malignant Hyperthermia
Vertigo, Tachypnea, Hypocapnia ORPHA:466650
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Short stature, Acne, Dehydration, Hypocapnia ORPHA:90794
Muscular Dystrophy, Duchenne Type
Hypoventilation OMIM:310200
Bethlem Muscular Dystrophy
Hypoventilation ORPHA:610
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Abnormal Eustachian tube morphology ORPHA:513456
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Charcot-Marie-Tooth Disease Type 4C
Hypoventilation, Sensorineural hearing impairment ORPHA:99949
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Hearing impairment, Hypoventilation, Short stature, Patent ductus arteriosus, Microtia OMIM:620455
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ascites, Anasarca, Hypoventilation OMIM:203700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Apnea, Hypoventilation, Short stature, Patent ductus arteriosus ORPHA:438213
Interstitial Lung Disease 2
Cirrhosis OMIM:178500
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia 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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