Gene Summary

Name:
activating transcription factor 3
Synonyms:
LRG-21

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 locomotor activity Atf3tm2b(EUCOMM)Wtsi HOM   Early adult 9.90×10-05
abnormal retina morphology Atf3tm2b(EUCOMM)Wtsi HOM Early adult 9.45×10-06

Download data as:  TSV  XLS

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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
Aorta  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum 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)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
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 Whole Body Dorso Ventral

10 Images

Adult LacZ

LacZ Images Wholemount

20 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

8 Images

Immunophenotyping

Panel A FCS file(s)

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Atf3 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 Atf3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Retinal dystrophy, Drusen OMIM:267800
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Immunodeficiency 24
Respiratory tract infection, Decreased specific pneumococcal antibody level, Defective T cell pro... OMIM:615897
Macular Degeneration, Age-Related, 13
Macular scar, Macular degeneration, Choroidal neovascularization, Drusen OMIM:615439
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level OMIM:312863
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Asthma, Eczema, Recurrent sinopulmo... OMIM:607271
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Immunodeficiency 95
Increased circulating IgG3 level, Respiratory distress, Decreased circulating IgG3 level, Respira... OMIM:619773
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia... OMIM:617638
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Reduced natural killer cell activity, Chronic oral candidiasis, ... OMIM:300400
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... OMIM:312700
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... OMIM:608106
Immunodeficiency, Common Variable, 2
Conjunctivitis, Lymphoma, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot... OMIM:240500
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Retinopathy, Sub-RPE deposits, Retinal degeneration, Choroidal neovascularization, Chorioretinal ... OMIM:605670
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Squamous cell carcinoma of the vulva, Ast... ORPHA:217390
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:1852
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... OMIM:300310
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Retinal atrophy, Retinal dystrophy, Bone spicule pigmentation of the retina, Attenua... OMIM:180210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased T cell activation, Bronchiectasis, Recurrent respiratory infections, Recurren... OMIM:300853
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... OMIM:613500
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Decreased... OMIM:619707
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... OMIM:612692
Familial Drusen
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... ORPHA:75376
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgA leve... OMIM:606843
Whim Syndrome 1
Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level, Recurrent ... OMIM:193670
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Macular Degeneration, Age-Related, 1
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... OMIM:603075
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Crohn's disease, Bronchiectasis, Reduced circul... OMIM:619632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Bronchiectasis, Decreased circulating IgG2 level, Recurrent sinopulmonary infections, Increased c... OMIM:615513
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Recurrent sinopulmonary infections OMIM:609529
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... OMIM:615139
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Bronchiectasis, Increased circulating IgG level, Recurrent otitis media, Increa... OMIM:619220
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Panhypogammaglobulinemia, Purulent rhinitis, Arthritis, Otitis media, Pneumonia OMIM:601457
Immunodeficiency 11
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Recurrent respiratory infectio... OMIM:615206
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... OMIM:617765
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM OMIM:610798
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Chronic oral candidiasis, Increased circulating an... ORPHA:723
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstr... OMIM:616576
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Recurr... OMIM:614069
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Bronchioli... ORPHA:1303
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... OMIM:178500
Retinitis Pigmentosa 70
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... OMIM:615922
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Recurrent sinusitis, Decre... OMIM:618969
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... ORPHA:178320
Retinitis Pigmentosa 50
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... OMIM:613194
Retinitis Pigmentosa 32
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... OMIM:609913
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Immunodeficiency 102
Verrucae, Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Bro... OMIM:301082
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgE le... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... ORPHA:169160
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Hamartoma, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Recurrent sinopulmonary... OMIM:614878
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... ORPHA:70578
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... OMIM:618108
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... ORPHA:277
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Myelodysplasia, Impaired Ig class switch recombination, Recurrent ... OMIM:608184
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent respiratory infections OMIM:614102
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent sinusitis, Infla... OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Asth... OMIM:243700
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615451
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti... OMIM:618394
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Immunodeficiency 104
Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Otitis media, Pneumonia OMIM:608971
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Recurrent lower respir... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Bronchiectasis, Asthma, Cutaneous abscess, Chronic mucocutaneous... OMIM:619752
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia ORPHA:930
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased... ORPHA:183675
Oculorenocerebellar Syndrome
Retinal degeneration, Choreoathetosis OMIM:257970
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Recurrent sinusitis, Colitis, Pneumonia, Decreased circulating IgG level, Decreas... OMIM:614700
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:616636
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615504
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis OMIM:618806
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphoma, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Chronic ora... ORPHA:276
Aspergillosis
Osteomyelitis, Bronchiectasis, Asthma, Hepatitis, Pleuritis, Abnormality on pulmonary function te... ORPHA:1163
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, Abnormality of B cell physiology, Recurrent otitis media, Cutaneous ane... OMIM:600802
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent otitis media, Recurrent sinusitis, Recur... OMIM:619436
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Bronchiectasis, Lung abscess, Rec... OMIM:241600
Immunodeficiency 32B
Abnormal circulating IgG level, Recurrent respiratory infections, Bronchiectasis, Sinusitis, Impa... OMIM:226990
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia ORPHA:3347
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Immunodeficiency 52
Recurrent pneumonia, Chronic lung disease, Bronchiectasis, Decreased circulating antibody level OMIM:617514
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Retinal hole, Falciform retinal ... OMIM:305390
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Immunodeficiency 27A
Abnormal bronchus physiology, Increased inflammatory response, Increased circulating IgM level, S... OMIM:209950
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... OMIM:618254
Immunodeficiency 92
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia, Decreased circulating... OMIM:619652
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, B Acute Lymphoblastic Leukemia, Decreased circulating IgE, Recur... OMIM:619824
Immunodeficiency 105
Decreased circulating total IgM, Decreased circulating antibody level, Skin rash, B-cell lymphoma... OMIM:619924
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Eczema, Recurrent sinusitis, Recurrent o... OMIM:618282
Immunodeficiency 56
Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangiti... OMIM:615207
Immunodeficiency 96
Decreased circulating total IgM, Defective T cell proliferation, Eczema, Recurrent otitis media, ... OMIM:619774
Tularemia
Conjunctivitis, Erythema nodosum, Increased circulating antibody level, Skin rash, Inflammatory a... ORPHA:3392
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... OMIM:300991
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Eczema, Bronchiolitis obliterans, Increased circul... OMIM:617241
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... OMIM:608644
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Bronchiectasis, Eczema, Recurrent otitis media, Keratitis, Recurrent respiratory infections, Incr... OMIM:618523
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:859
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 58
Chronic bronchitis, Bronchiectasis, Eczema, Recurrent cutaneous abscess formation, Colitis, Verru... OMIM:618131
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615505
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Hepatitis, Skin ... ORPHA:33110
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... OMIM:611884
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Falciform retinal fold, Posterior vitreous deta... OMIM:133780
Microlissencephaly
Pneumonia ORPHA:1083
Severe Acute Respiratory Syndrome
Hypoxemia, Respiratory distress, Dyspnea, Cough, Neoplasm, Respiratory failure requiring assisted... ORPHA:140896
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Bronchiectasis, Sinusitis, Decreased circulating IgA level, Increased circula... OMIM:242860
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Bronchiectasis, Hepatocellular carcinoma, Chronic pulmonary obstruction, Dysp... OMIM:613490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Chronic bronchitis, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent sinu... OMIM:618986
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:615481
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent p... OMIM:615577
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Decreased T cell activation, Recurrent lower respiratory tract infectio... OMIM:308230
Ciliary Dyskinesia, Primary, 25
Chronic bronchitis, Bronchiectasis, Productive cough, Immotile cilia, Chronic pulmonary obstructi... OMIM:615482
Whim Syndrome
Lymphadenitis, Papilloma, Respiratory tract infection, Verrucae, Bronchiectasis, Decreased circul... ORPHA:51636
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Pulmonary fibrosis, Decreased circulating total IgM, Decreased c... OMIM:611926
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Verrucae, Recurrent aphthous stomatitis, Chronic oral candidiasis, Juvenile rheumatoid arthritis,... ORPHA:275
Ciliary Dyskinesia, Primary, 11
Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Immotile cilia, Recurrent sinus... OMIM:612649
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Bronchitis, Exertional dyspnea, Productive cough, Recurrent respirator... ORPHA:3348
Common Variable Immunodeficiency
Lymphoma, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody level,... ORPHA:1572
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia, Abnormal circulating interleukin concentration ORPHA:319552
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... OMIM:193235
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 1, Autosomal Recessive
Conjunctivitis, Panhypogammaglobulinemia, Recurrent respiratory infections, Bronchiectasis, Decre... OMIM:601495
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Pneumonia, Reduction of neutrophil motility, Bronchiolitis OMIM:266265
Ciliary Dyskinesia, Primary, 26
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615500
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Recurrent respiratory infections, Bronchiectasis OMIM:619126
Ciliary Dyskinesia, Primary, 32
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chronic pulmonary obstruction, Recu... OMIM:616481
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating total IgM, Decreased circulating antibody level, Complete or... OMIM:301081
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Hypoxemia, Chron... ORPHA:79127
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Bronchiectasis, Honeycomb lung, R... ORPHA:2032
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... OMIM:619510
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Atopic dermat... ORPHA:331235
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Agammaglobulinemia, Decreased c... OMIM:619705
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Bronchiectasis, B-cell lymphoma, Recurrent upper respiratory tract in... OMIM:616005
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Ciliary Dyskinesia, Primary, 5
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:608647
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... OMIM:610913
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Decreased circulating antibody level, Interstitial pneumon... OMIM:615952
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Inflammatory abnormality of the skin, Asthma, Skin rash, Decreas... OMIM:102700
Bloom Syndrome
Acute myeloid leukemia, Myelodysplasia, Esophageal neoplasm, Acute lymphoblastic leukemia, Neopla... ORPHA:125
Scedosporiosis
Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... ORPHA:449280
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he... OMIM:307200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Increased circulating IgG level, Recurrent otitis media, Lympho... OMIM:618495
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Dyspnea, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Complement Factor B Deficiency
Decreased circulating complement factor B concentration, Peritonitis, Pneumonia OMIM:615561
Ciliary Dyskinesia, Primary, 12
Decreased nasal nitric oxide, Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, C... OMIM:612650
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Hypoxemia, Lung abscess, Decreased DLCO, Inspiratory cra... OMIM:610910
Ciliary Dyskinesia, Primary, 35
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinit... OMIM:617092
Ciliary Dyskinesia, Primary, 15
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurrent pneumoni... OMIM:613808
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Chronic mucocutaneous candidiasis, Cholangitis, Viral hepatitis, Cutane... OMIM:209920
Familial Nasal Acilia
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Recurrent upper respir... ORPHA:922
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Bronchiectasis, Chronic sinusitis, Recurrent pneumonia, Abnormal ciliary moti... OMIM:613807
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent res... OMIM:614679
Ciliary Dyskinesia, Primary, 34
Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beating frequency, Recu... OMIM:617091
Riddle Syndrome
Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Arthriti... ORPHA:420741
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis OMIM:620032
Isolated Agammaglobulinemia
Recurrent respiratory infections, Skin rash, Inflammatory abnormality of the eye, Arthritis, Recu... ORPHA:229717
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Yellow Nail Syndrome
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Pleuritis, Sarcoma, Biliary tract neop... ORPHA:662
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Decreased lymphocyte proliferation in response to mitogen, Abnormality of B cell physio... OMIM:613179
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased circulating total IgM, Decreased lymphocyte proliferation in r... ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, Panhypogammaglobulinemia, Lack of T cell function, Decreased lymphocyte proliferation i... ORPHA:572
Immunodeficiency 22
Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Pericarditi... OMIM:615758
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Abnormal ciliary motility, Chronic otitis me... OMIM:614017
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Resp... OMIM:616037
Good Syndrome
Thymoma, Bronchiectasis, Decreased circulating antibody level, Dyspnea, Sinusitis, Cough, Recurre... ORPHA:169105
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchiolitis, Chronic otitis... OMIM:604571
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Lymphoma, Chronic oral candidiasis, Decreased... ORPHA:911
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Productive cough, Chronic sinusitis, Chronic rhinitis, Recurrent upper respirator... OMIM:618699
Ciliary Dyskinesia, Primary, 38
Rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Immotile cilia, Chronic... OMIM:618063
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... ORPHA:542323
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 19
Rhinitis, Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary ... OMIM:614935
Tempi Syndrome
Hypoxemia, Hemangioma, Transudative pleural effusion, Increased circulating IgG level, Abnormalit... ORPHA:284227
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Pyoderma, Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, ... OMIM:242700
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failure, Pneu... ORPHA:70587
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... OMIM:612387
Ciliary Dyskinesia, Primary, 22
Rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasis, Respiratory insuffici... OMIM:615444
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Pulm... ORPHA:36238
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Aspiration pneumonia, Neonatal respiratory distress OMIM:619057
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent aphthous stomatitis, Rhinitis, Periodontitis, Myelodysplasia, A... ORPHA:486
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:613193
Immunodeficiency 40
Respiratory tract infection, Chronic oral candidiasis, Interstitial pneumonitis, Reduced antigen-... OMIM:616433
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, Recurrent upper respiratory tract infections, Otitis media, Pneumonia, ... OMIM:602450
X-Linked Centronuclear Myopathy
Respiratory failure requiring assisted ventilation, Pneumonia, Respiratory distress, Recurrent re... ORPHA:596
Panbronchiolitis, Diffuse
Bronchiectasis, Rhonchi, Hypoxemia, Crackles, Cough, Wheezing OMIM:604809
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Immotile cilia, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Chroni... OMIM:244400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Decreased circulating total IgM, Decreased lymphocyte proliferation in response to... ORPHA:331206
Immunodeficiency 13
Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent upper... OMIM:615518
Pancreatic Agenesis 2
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency OMIM:615935
Pgm3-Cdg
Lymphoma, Osteomyelitis, Bronchiectasis, Allergic rhinitis, Asthma, Reduced antigen-specific T ce... ORPHA:443811
Fusariosis
Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Productive cough, Arthritis, Fasciitis, L... ORPHA:228119
Avian Influenza
Conjunctivitis, Myelitis, Pneumothorax, Productive cough, Hepatitis, Hypoxemia, Respiratory distr... ORPHA:454836
Q Fever
Endocarditis, Abnormal pulmonary interstitial morphology, Myocarditis, Osteomyelitis, Maculopapul... ORPHA:781
Immunodeficiency 23
Bronchiectasis, Allergic rhinitis, Asthma, Eczema, Membranoproliferative glomerulonephritis, Incr... OMIM:615816
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Neoplasm of the skin, Glomerulonephritis, Gastritis, Bone marrow hypoce... ORPHA:3261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Osteomyelitis, Recurrent respiratory infections, Crusting erythemat... ORPHA:37042
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Melioidosis
Septic arthritis, Respiratory tract infection, Prostatitis, Hepatitis, Lung abscess, Cutaneous ab... ORPHA:31202
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... ORPHA:70588
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pancreatic calcification, Pancreatitis OMIM:167800
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, Peribronchovascular i... ORPHA:79126
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Crohn's disease, Osteomyelitis, Decreased circulating total IgM, Bronchiectasis, Decr... OMIM:619381
Thymic Aplasia
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Thyroiditis,... ORPHA:83471
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Otitis media, Recurrent respirat... OMIM:606763
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Bronchogenic Cyst
Abnormal pleura morphology, Pneumonia, Dyspnea, Cough, Bronchogenic cyst, Pulmonary cyst, Atelect... ORPHA:2357
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic steatos... ORPHA:139507
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Panhypogammaglobulinemia, Recurrent aspiration pneumonia, Chronic mucocutan... ORPHA:79124
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Congenital Tracheomalacia
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... ORPHA:95430
Ataxia-Telangiectasia
Lymphoma, Bronchiectasis, Decreased circulating IgG2 level, Recurrent bronchitis, Acute lymphobla... OMIM:208900
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Colitis, ... OMIM:301220
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Lymphoid Interstitial Pneumonia
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr... ORPHA:79128
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Reduced natural killer cell activity, Recurrent lower respirator... OMIM:301000
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Irid... OMIM:181000
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Bacterial Toxic-Shock Syndrome
Septic arthritis, Myocarditis, Respiratory tract infection, Osteomyelitis, Hepatitis, Skin rash, ... ORPHA:36234
Timothy Syndrome
Bronchitis, Pneumonia OMIM:601005
Postinfectious Vasculitis
Bacterial endocarditis, Inflammatory abnormality of the skin, Increased circulating antibody leve... ORPHA:48435
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:221139
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A... ORPHA:103918
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Eosinophilic infiltration of the esophagus, Pancol... OMIM:618213
Bronchial Neuroendocrine Tumor
Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Dyspnea, Pulmonary carcinoid tu... ORPHA:97287
Insulin-Resistance Syndrome Type B
Lymphoma, Decreased circulating complement factor B concentration, Skin rash, Multiple myeloma, N... ORPHA:2298
Coccidioidomycosis
Osteomyelitis, Pleural empyema, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Morbillifor... ORPHA:228123
Nocardiosis
Pneumothorax, Scleritis, Productive cough, Pericarditis, Pleural effusion, Pneumonia, Nonproducti... ORPHA:31204
Bloom Syndrome
Lymphoma, Malar rash, Decreased circulating total IgM, Bronchiectasis, Squamous cell carcinoma, R... OMIM:210900
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Aspiration pneumonia, Bronchiectasis OMIM:618253
Graft Versus Host Disease
Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit... ORPHA:39812
Omenn Syndrome
Lymphoma, Thyroiditis, Pneumonia, Erythroderma ORPHA:39041
Infection-Related Hemolytic Uremic Syndrome
Septic arthritis, Myocarditis, Respiratory tract infection, Increased circulating interleukin 6 c... ORPHA:544482
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Prostatitis, Sclerosing cholangitis, Pericarditis, Lymphadeniti... ORPHA:449395
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Microsporidiosis
Bronchitis, Lymphadenitis, Endocarditis, Rhinitis, Osteomyelitis, Myocarditis, Prostatitis, Kerat... ORPHA:2552
Aregenerative Anemia
Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumonitis, Pustul... ORPHA:139402
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
X-Linked Lymphoproliferative Disease
Myocarditis, Pulmonary granulomatosis, Burkitt lymphoma, Decreased circulating total IgM, Fulmina... ORPHA:2442
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Fibroma, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Uterine n... ORPHA:1018
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neutrophil chemotaxis, Glomeru... ORPHA:2968
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Neoplasm, Chronic otitis media ORPHA:169090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Bronchiectasis, Decreased circulating antibody level, Thyroiditis, Recurrent bronchitis, Recurren... ORPHA:293978
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Pneumonia, Abnormal respiratory system physiology, Recurrent respiratory inf... ORPHA:98905
Cryptococcosis
Osteomyelitis, Nodular pattern on pulmonary HRCT, Prostatitis, Lymphoid leukemia, Respiratory dis... ORPHA:1546
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Increased circulating antibody level, Skin rash, Arthritis, Hepatitis, Chilbl... OMIM:615846
Zygomycosis
Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Hematological neoplasm, Colit... ORPHA:73263
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Central sleep apnea, Aspiration pneumonia, Pancreatitis ORPHA:431361
Spondyloenchondrodysplasia
Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Enchondroma, Pneumonia ORPHA:1855
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Aspiration pneumonia, Respiratory distress, Apnea, Recurrent pneumonia ORPHA:314655
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Increased circulating interleukin 6 concentration, Acute tubulointe... ORPHA:340
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Listeriosis
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Infectious encephalit... ORPHA:533
Hennekam-Beemer Syndrome
Mastocytosis, Respiratory insufficiency, Pneumonia ORPHA:2135
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Episodic tachypnea, Respiratory distress, Pneumonia, Tachypnea ORPHA:26793
Spondyloenchondrodysplasia With Immune Dysregulation
Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media,... OMIM:607944
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Osteomyelitis, Myelodysplasia, Impaired neutrophil chemotaxis, Skin rash,... ORPHA:811
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Myelodysplasia, Interstitial pneumonitis, Dyspnea, Bone marr... OMIM:127550
Shigellosis
Conjunctivitis, Myocarditis, Arthritis, Ulcerative colitis, Uveitis, Peritonitis, Pneumonia, Acut... ORPHA:810
Proximal Spinal Muscular Atrophy
Respiratory failure, Hypoventilation, Recurrent aspiration pneumonia, Recurrent infections due to... ORPHA:70
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia ORPHA:354
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress ORPHA:330021
Geleophysic Dysplasia 3
Respiratory failure, Sleep apnea, Pneumonia, Dyspnea OMIM:617809
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Breast carcinoma, Pneumonia, Endometrial carcinoma ORPHA:90790
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity OMIM:603467
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Exertional dyspnea, Increased pulmonary vascular resistance, Ano... ORPHA:99104
Chops Syndrome
Aspiration pneumonia, Anomalous pulmonary venous return, Sleep apnea, Tracheomalacia, Chronic lun... OMIM:616368
Mirage Syndrome
Aspiration pneumonia, Myelodysplasia OMIM:617053
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Exertional dyspnea, Breathing dysregulation, Increased pulmonary... ORPHA:99103
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Cholesteat... OMIM:602535
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Restrictive ventilatory defect, Recurrent upper respiratory trac... OMIM:253200
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Apnea, Cough, Stridor, Bronchiolitis OMIM:230900
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Pustule, Sinusitis, Infectious encephalitis, Pneumonia ORPHA:68
Bickerstaff Brainstem Encephalitis
Respiratory tract infection, Hypercapnia, Dyspnea, Respiratory failure, Respiratory failure requi... ORPHA:79138
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Pyoderma, Squamous cell carcinoma, Gastrointestinal inflammation, Respiratory distr... ORPHA:79404
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Allergic conjunctivitis, Numerous nevi, Allergic rhinitis OMIM:176690
Cholera
Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Mucopolysaccharidosis Type 3
Respiratory tract infection, Aspiration pneumonia, Recurrent sinopulmonary infections, Upper airw... ORPHA:581
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Orotic Aciduria
Impaired T cell function OMIM:258900
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Enlarged lacrimal glands, Cholangitis, Abnormality of the submandibular... ORPHA:449432
Congenital Fiber-Type Disproportion Myopathy
Aspiration pneumonia, Weakness of muscles of respiration, Hypoxemia, Hypercapnia, Intercostal mus... ORPHA:2020
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Conjunctivitis, Rhinitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis s... ORPHA:95455
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Aspiration pneumonia, Apnea, Restrictive ventilatory defect, Hypopnea OMIM:619482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pilomatrixoma, Recurrent respiratory infections, Asthma, Spinal cord tumor, Meningioma, Neoplasm,... ORPHA:353281
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Degcags Syndrome
Pulmonary arterial hypertension, Rhinitis, Asthma, Tracheomalacia, Chronic lung disease, Pneumonia OMIM:619488
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Papillary thyroid carcinoma, ... ORPHA:1465
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Plague
Lymphadenitis, Endocarditis, Enterocolitis, Erythema nodosum, Skin rash, Inflammatory abnormality... ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Neuroleptic Malignant Syndrome
Pulmonary embolism, Aspiration pneumonia ORPHA:94093
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Asthma, Sleep apnea, Tracheomalacia, Chron... ORPHA:444077
Liver Disease, Severe Congenital
Status asthmaticus, Pulmonary edema, Eczema, Recurrent otitis media, Cholesteatoma, Cough, Chroni... OMIM:619991
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pilomatrixoma, Recurrent respiratory infections, Aspiration, Asthma, Meningioma, Otitis media, Pn... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pilomatrixoma, Recurrent respiratory infections, Aspiration, Asthma, Meningioma, Otitis media, Pn... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Semilobar Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia, Central apnea ORPHA:93924
Niemann-Pick Disease Type C
Respiratory insufficiency, Respiratory failure, Aspiration pneumonia, Abnormal lung morphology ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Aspiration pneumonia, Central sleep apnea, Breathing dysregulation, Apnea, Obstr... ORPHA:438213
Doors Syndrome
Capillary hemangioma, Aspiration pneumonia, Respiratory distress ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Impaired neutrophil chemotaxis, Aspiration pneumonia, Pericarditis, Respiratory distress 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 Atf3

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 Atf3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hepatocyte ATF3 protects against atherosclerosis by regulating HDL and bile acid metabolism. Nature metabolism (January 2021) Atf3tm2c(EUCOMM)Wtsi Atf3tm2a(EUCOMM)Wtsi 33462514

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MGI Allele Allele Type Produced
Atf3tm2b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Atf3tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Atf3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Atf3tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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