Gene Summary

Name:
CD163 antigen
Synonyms:
N/A

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.

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Bone marrow  Section images heterozygote 50% (1 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Olfactory lobe  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 50% (1 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote Not available
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote Not available
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

19 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Cd163 mutations

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

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

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

The table below shows human diseases predicted to be associated to Cd163 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 42
Pneumonia, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis, Bronchiectasis OMIM:618695
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can... OMIM:613953
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Absent central microtubular pair morphology of respiratory motile cilia, ... OMIM:620032
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Chronic rhinit... OMIM:612444
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Absent inner and outer dynein arms, Chronic rhi... OMIM:618801
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiect... OMIM:604571
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent upper res... ORPHA:922
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology OMIM:215520
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Dynein arm defect of respiratory motile cilia, Rhinitis, Recurrent sinusi... OMIM:615505
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Nasal polyposis, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:617092
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Dynein arm defect of respiratory motile cilia, Bronchie... OMIM:614679
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Ciliary Dyskinesia, Primary, 13
Absent outer dynein arms, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Bron... OMIM:613193
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent bronchitis, Ch... OMIM:617091
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Abnormal central microtubular pair morphology of respirato... OMIM:612649
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ciliary Dyskinesia, Primary, 6
Absent/shortened outer dynein arms, Sinusitis, Recurrent sinusitis, Abnormal respiratory motile c... OMIM:610852
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... OMIM:613808
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent... OMIM:614935
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Chronic rhini... OMIM:611884
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Absent outer dynein arms, Chronic rhinitis, Bronchiectasis, Chronic sinusitis OMIM:614017
Immunodeficiency 104
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P... OMIM:608971
Immunodeficiency 13
Recurrent otitis media, Nasal polyposis, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis... OMIM:615518
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Bronc... OMIM:616481
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Recurrent pneumon... OMIM:608647
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, ... OMIM:615500
Ciliary Dyskinesia, Primary, 30
Absent outer dynein arms, Recurrent otitis media, Nasal polyposis, Bronchiectasis, Recurrent resp... OMIM:616037
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Nasal polyposis OMIM:620197
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative colitis OMIM:617638
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Chronic... OMIM:612518
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Nasal polyposis, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent... OMIM:615444
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Bronchiectasis, Rhinitis, Absent inner and outer dynein arms, Chronic sinus... OMIM:618063
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Otitis media, Ab... OMIM:613807
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Sinusitis, Otitis media, Bronchiectasis, Recurrent respiratory infections, Absen... OMIM:606763
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Microlissencephaly
Pneumonia ORPHA:1083
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Chronic rhinit... OMIM:244400
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections OMIM:619126
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections, Atrophic gastritis,... OMIM:616576
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia OMIM:601457
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Recurrent pneumonia, Recurrent sinu... OMIM:607594
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:615139
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency 48
Pneumonia, Recurrent respiratory infections, Eczematoid dermatitis OMIM:269840
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent bacterial skin infections, Atopic dermatitis, Recurrent sinusitis... ORPHA:217390
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis media, Re... ORPHA:229717
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Arthritis, Bronchiectasis, Recurrent upper and lower respiratory tract in... ORPHA:397596
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis OMIM:266265
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Scedosporiosis
Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art... ORPHA:449280
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Recurrent respiratory infections, Recurrent sinopulmonary infections OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Chronic oral candidiasis, Skin rash, Recurrent pneumonia OMIM:300400
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
C1Q Deficiency 2
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar rash, Ar... OMIM:620321
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Eczematoid dermatitis OMIM:607271
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Recurrent upper respiratory tract infections OMIM:608184
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Ch... OMIM:615207
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia OMIM:610910
Melioidosis
Lung abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Respiratory... ORPHA:31202
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Atopic derma... OMIM:618282
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyroiditis, Atopi... ORPHA:436159
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Skin rash, Inflammation of the large intestine, Bronchiectasis, Recu... OMIM:618108
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Cholangitis, Recurrent lower respiratory tract infections, Recurrent resp... ORPHA:183675
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiectasis, Sinusitis, Keratitis, ... ORPHA:1163
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Ulcer... OMIM:614878
Oxoglutaric Aciduria
Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism ORPHA:31
Tularemia
Pneumonia, Inflammatory abnormality of the eye, Skin rash, Pleural effusion, Otitis media, Conjun... ORPHA:3392
Immunodeficiency 62
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:618459
Immunodeficiency 32B
Sinusitis, Pneumonia, Recurrent respiratory infections, Bronchiectasis OMIM:226990
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Hereditary Leiomyomatosis And Renal Cell Cancer
Decreased fumarate hydratase activity, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma OMIM:150800
Immunodeficiency 110 With Lymphoproliferation
Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Chronic mucocutaneou... OMIM:614868
Autosomal Agammaglobulinemia
Chronic otitis media, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Bronchiectasis, Recurrent ... ORPHA:33110
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent otitis media, Thyroiditis, Colitis, Arthritis, Bronchiectasis, Inflammation ... OMIM:614700
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Recurrent pneumonia, Otitis media, Pneumonia, Hepatitis ORPHA:169160
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Chronic bronchitis, Recurrent upper respiratory tract infections OMIM:614069
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Vitreoretinochoroidopathy
Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar occlusion, Reti... OMIM:193220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Eczema... OMIM:243700
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema ORPHA:1164
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Pyoderma, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Recurrent pneu... OMIM:242700
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Bronchiectasis OMIM:242860
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Atopic dermatitis, Recurrent pneumonia... OMIM:619752
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased inflammatory response OMIM:209950
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi... ORPHA:36238
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent otitis media, Recurrent lower respiratory tract infections, Lymphadenitis, Recurrent pn... OMIM:618986
Pneumocystosis
Chronic oral candidiasis, Acute infectious pneumonia, Pleural effusion, Multiple pulmonary cysts,... ORPHA:723
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Recurrent sinopulmonary infections, Pulmonary fibrosis, Bronchiectasis, Ulcerati... OMIM:618394
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Bronchiectasis, Chronic oral candidiasis, Recurrent pneumonia, Recurrent aphthous stomatitis OMIM:150550
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormal pulmonary interstitial morphology, Acute pancrea... ORPHA:178320
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Pneum... ORPHA:486
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Sinusitis, Epidi... OMIM:307200
Whim Syndrome
Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Bronchiectasis, Sinusitis, Recurrent... ORPHA:51636
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Recurrent pneumonia, Resp... OMIM:616433
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Crohn's disease, Arthritis, Eczematoid dermatitis, ... OMIM:616100
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Yellow Nail Syndrome
Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Bronchiectasis, Recurrent respiratory infec... ORPHA:662
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Decreased methylmalonyl-CoA mutase activity, Hyperhomo... OMIM:277410
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis OMIM:617577
Mitochondrial Dna-Associated Leigh Syndrome
Optic atrophy, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, Hyperalaninemia, ... ORPHA:255210
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bac... ORPHA:911
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Decreased methylmalonyl-CoA mutase act... OMIM:251110
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiectasis, Otitis media, Pneumonia, R... ORPHA:1572
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Respiratory tract infection, S... ORPHA:36234
Ciliary Dyskinesia, Primary, 20
Absent outer dynein arms, Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurre... OMIM:615067
Graft Versus Host Disease
Gastrointestinal inflammation, Inflammatory abnormality of the eye, Stomatitis, Acute hepatitis, ... ORPHA:39812
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Esophagitis, Pneumonia, Osteomyelitis OMIM:619652
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Hepatitis ORPHA:60
Microsporidiosis
Myocarditis, Prostatitis, Pancreatitis, Cholangitis, Myositis, Bronchitis, Thyroiditis, Keratocon... ORPHA:2552
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Recurrent respiratory infections, Myositis, Thyroiditis, Tubulointerstitial nephritis,... ORPHA:37042
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Fumarase Deficiency
Optic atrophy, Decreased fumarate hydratase activity, Polymicrogyria, Hyperbilirubinemia, Lissenc... OMIM:606812
Avian Influenza
Pneumothorax, Myelitis, Pleural effusion, Conjunctivitis, Pneumonia, Hepatitis, Infectious enceph... ORPHA:454836
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, Interstitial... ORPHA:139402
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Friedreich Ataxia
Optic atrophy, Decreased pyruvate carboxylase activity OMIM:229300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Interstitial pneumonitis, Eczematoid dermatitis, Re... OMIM:615952
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent sinusitis, Recurrent pneumonia, Conjunctivitis, Bronchiectasis,... OMIM:601495
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Methylmalonic acidemia, Decreased methylmalonyl-CoA mutase activity, Hyperglycinemia OMIM:251100
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Recurrent sinusitis, Recurrent... ORPHA:420741
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Sinusitis, Re... ORPHA:83471
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal neovascularization, Retinal cotton wool spot, Abnormal retinal vascular morphology, Weakn... ORPHA:247691
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bacterial skin ... ORPHA:276
Nocardiosis
Pneumothorax, Scleritis, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphadenitis, Peri... ORPHA:31204
Omenn Syndrome
Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methylmalonyl-CoA mutase activity, Methylmalonic acidemia, Hyperhomocystinemia, Cystath... OMIM:277400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent upper ... OMIM:600802
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Pleural effusion, Hepatitis, Pericarditi... ORPHA:781
Purine Nucleoside Phosphorylase Deficiency
Recurrent lower respiratory tract infections, Sinusitis, Otitis media, Recurrent upper respirator... OMIM:613179
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys... OMIM:158310
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Recurrent lower respiratory tract infections, Ente... OMIM:300755
Brucellosis
Myocarditis, Lung abscess, Hip osteoarthritis, Arteritis, Bronchitis, Knee osteoarthritis, Arthri... ORPHA:1304
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Congenital Syphilis
Myocarditis, Pancreatitis, Synovitis, Rhinitis, Keratitis, Pneumonia, Maculopapular exanthema, Uv... ORPHA:499009
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Pneumonia ORPHA:169090
Cystic Fibrosis
Pancreatitis, Recurrent bronchopulmonary infections, Nasal polyposis, Recurrent pneumonia, Bronch... OMIM:219700
Adult-Onset Still Disease
Myocarditis, Pleuritis, Arthritis, Skin rash, Pericarditis, Arthralgia/arthritis, Interstitial pn... ORPHA:829
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Otitis media, Recurrent upper respiratory tract infections OMIM:602450
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Zygomycosis
Myocarditis, Pneumothorax, Fasciitis, Pancreatitis, Gastritis, Atelectasis, Acute infectious pneu... ORPHA:73263
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurrent pneumonia, Inflammatory abnorm... OMIM:102700
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Shigellosis
Myocarditis, Acute colitis, Arthritis, Peritonitis, Conjunctivitis, Pneumonia, Ulcerative colitis... ORPHA:810
Congenital Tracheomalacia
Pneumothorax, Emphysema, Bronchiectasis, Pulmonary hypoplasia, Partial anomalous pulmonary venous... ORPHA:95430
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Spondyloenchondrodysplasia
Arthritis, Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis ORPHA:1855
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Listeriosis
Myocarditis, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthritis, Conjunctivitis, ... ORPHA:533
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Arthritis, Skin rash, Pleural empyema, ... ORPHA:228123
Bloom Syndrome
Cheilitis, Bronchitis, Skin rash, Rhinitis, Respiratory tract infection, Otitis media, Pneumonia,... ORPHA:125
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia ORPHA:354
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Gastritis, Bronchitis, Skin rash, Crohn's disease, Arthritis, Pustular ra... OMIM:619381
Cryptococcosis
Pneumonia, Prostatitis, Pleural effusion, Peritonitis, Nodular pattern on pulmonary HRCT, Osteomy... ORPHA:1546
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Postinfectious Vasculitis
Gastrointestinal inflammation, Bacterial endocarditis, Arthritis, Viral hepatitis, Recurrent stre... ORPHA:48435
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Leukocyte Adhesion Deficiency
Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s... ORPHA:2968
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Chronic mucocutaneous candidiasis, Recurrent aspiration pneumonia, Pulmonary fibrosis, Recurrent ... ORPHA:79124
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Aicardi-Goutieres Syndrome 7
Recurrent lower respiratory tract infections, Arthritis, Skin rash, Chilblains, Atopic dermatitis... OMIM:615846
Hennekam-Beemer Syndrome
Pneumonia ORPHA:2135
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Cystic Fibrosis
Pneumothorax, Recurrent lower respiratory tract infections, Nasal polyposis, Sinusitis, Bronchiec... ORPHA:586
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Aspiration pneumonia, Recurrent respiratory infections, Keratitis, Tracheobronchial leiomyomatosis ORPHA:1018
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pancreatitis, Pleuritis, Acute colitis, Pleural empyema, Respiratory tract infection... ORPHA:544482
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Pleuritis, Arteritis, Thyroiditis, Lymphadenit... ORPHA:449395
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Respiratory tract infection, Pneumonia, Infectious encephalitis ORPHA:68
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Mirage Syndrome
Aspiration pneumonia OMIM:617053
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Insulin-Resistance Syndrome Type B
Pneumonia, Skin rash, Nephritis, Osteoarthritis ORPHA:2298
Shwachman-Diamond Syndrome
Skin rash, Eczematoid dermatitis, Sinusitis, Pneumonia, Osteomyelitis ORPHA:811
Mucopolysaccharidosis Type 3
Chronic otitis media, Aspiration pneumonia, Respiratory tract infection, Recurrent sinopulmonary ... ORPHA:581
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Recurrent infections due to aspiration ORPHA:70
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Acute tubulointerstitial nephritis, Pleural effusion, Pneumonia, Tubulointerstit... ORPHA:340
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Recurrent aspiration pneumonia, Arthritis ORPHA:221139
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections OMIM:602535
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Cholera
Aspiration pneumonia ORPHA:173
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Recurrent aspiration pneumonia ORPHA:397715
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Plague
Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Skin rash,... ORPHA:707
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Pyoderma, Pneumonia, Recurrent skin infections ORPHA:79404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnormality of... ORPHA:95455
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Neuroleptic Malignant Syndrome
Aspiration pneumonia ORPHA:94093
Degcags Syndrome
Pneumonia, Rhinitis OMIM:619488
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Friedreich Ataxia 2
Hammertoe, Decreased pyruvate carboxylase activity OMIM:601992
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia ORPHA:280633
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Recurrent aspiration pneumonia, Conjunctivitis, Rec... OMIM:616268
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353281
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Liver Disease, Severe Congenital
Pulmonary edema, Recurrent otitis media, Chronic gastritis, Eczematoid dermatitis, Peritonitis, P... OMIM:619991
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Otitis media ORPHA:353277
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia OMIM:612289
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Doors Syndrome
Aspiration pneumonia ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Recurrent aspiration pneumonia, Osteomyelitis, Fasciitis ORPHA:642
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia OMIM:147920
Chronic Visceral Acid Sphingomyelinase Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology ORPHA:77293
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Pericarditis, Aspiration pneumonia ORPHA:79318

Histopathology

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

There is no histopathology data for Cd163

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 Cd163.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Reduced angiogenesis and delayed endochondral ossification in CD163-/- mice highlights a role of M2 macrophages during bone fracture repair. Journal of orthopaedic research : official publication of the Orthopaedic Research Society (March 2023) Cd163tm1.1(KOMP)Vlcg 36970754
IsdB antibody-mediated sepsis following S. aureus surgical site infection. JCI insight (October 2020) Cd163tm1.1(KOMP)Vlcg PMC7566716
CD163 deficiency facilitates lipopolysaccharide-induced inflammatory responses and endotoxin shock in mice. Clinical & translational immunology (September 2020) Cd163tm1.1(KOMP)Vlcg PMC7518957
Mouse CD163 deficiency strongly enhances experimental collagen-induced arthritis. Scientific reports (July 2020) Cd163tm1(KOMP)Vlcg PMC7382459
CD163 Is Required for Protumoral Activation of Macrophages in Human and Murine Sarcoma. Cancer research (April 2018) Cd163tm1.1(KOMP)Vlcg 29610117
The haptoglobin beta subunit sequesters HMGB1 toxicity in sterile and infectious inflammation. Journal of internal medicine (May 2017) Cd163tm1(KOMP)Vlcg PMC5477782
The absence of the CD163 receptor has distinct temporal influences on intracerebral hemorrhage outcomes. Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism (March 2017) Cd163tm1(KOMP)Vlcg PMC5951015
Identification of CD163 as an antiinflammatory receptor for HMGB1-haptoglobin complexes. JCI insight (May 2016) Cd163tm1(KOMP)Vlcg PMC4902170
A CCL24-dependent pathway augments eosinophilic airway inflammation in house dust mite-challenged Cd163(-/-) mice. Mucosal immunology (September 2015) Cd163tm1(KOMP)Vlcg PMC4794428
CD163 interacts with TWEAK to regulate tissue regeneration after ischaemic injury. Nature communications (August 2015) Cd163tm1(KOMP)Vlcg PMC4918310
Plasma clearance of hemoglobin and haptoglobin in mice and effect of CD163 gene targeting disruption. Antioxidants & redox signaling (August 2012) Cd163tm1(KOMP)Vlcg 22793784

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MGI Allele Allele Type Produced
Cd163tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Cd163tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Cd163tm455387(Ifitm2_intron_L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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