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Gene: Atf3 MGI:109384

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Gene Summary

Name:
activating transcription factor 3
Synonyms:
LRG-21

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
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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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 0.68% (4 of 585)
aorta 0.17% (1 of 580)
bone 0.0%
brain 0.85% (5 of 589)
brainstem 0.34% (2 of 591)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 591)
cerebellum 0.51% (3 of 588)
cerebral cortex 0.17% (1 of 589)
esophagus 1.68% (7 of 416)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.34% (2 of 590)
hypothalamus 0.34% (2 of 588)
kidney 4.58% (27 of 589)
large intestine 5.27% (31 of 588)
liver 0.0%
lower urinary tract 0.17% (1 of 592)
lung 0.34% (2 of 586)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
olfactory lobe 0.34% (2 of 591)
oral epithelium 0.0%
ovary 0.17% (1 of 590)
oviduct 0.0%
pancreas 0.85% (5 of 589)
parathyroid gland 0.18% (1 of 568)
peripheral nervous system 0.34% (2 of 590)
peyers patch 0.0%
pituitary gland 0.17% (1 of 590)
prostate gland 2.21% (13 of 589)
skeletal muscle 0.0%
skin 0.17% (1 of 591)
small intestine 5.23% (31 of 593)
spinal cord 0.51% (3 of 592)
spleen 0.51% (3 of 587)
stomach 3.78% (22 of 582)
striatum 0.51% (3 of 587)
testis 1.01% (6 of 595)
thymus 0.17% (1 of 594)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 587)
uterus 0.34% (2 of 588)
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 Skull Dorso Ventral Orientation

10 Images

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Adult LacZ

LacZ Images Wholemount

20 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

4 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

8 Images

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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
Falciform retinal fold, Retinal dysplasia OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Immunodeficiency 51
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Chronic oral candidi... OMIM:613953
Immunodeficiency 24
Lymphoproliferative disorder, Decreased circulating IgG2 level, Partial absence of specific antib... OMIM:615897
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Decreased circulating total IgM, Complete or near-complete ab... OMIM:607271
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold 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, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Immunodeficiency 95
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... OMIM:619773
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Recurrent respiratory infections, Decreased circulating I... OMIM:605258
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia, Increased circulating antibody level OMIM:247800
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Ulcerative c... OMIM:617638
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Atopic dermatitis, Increased circulating interleukin 6 concentra... OMIM:618944
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Recurrent respiratory infections OMIM:269840
Severe Combined Immunodeficiency, X-Linked
Decreased circulating total IgM, Skin rash, Decreased circulating IgA level, Reduced natural kill... OMIM:300400
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Reduced isohemagglutinin level... OMIM:613493
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgA level, Impaired T cell function, Recur... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Immunodeficiency, Common Variable, 2
Lymphoma, Neoplasm, Decreased circulating IgA level, Impaired T cell function, Recurrent otitis m... OMIM:240500
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent respiratory infections, Atopic dermatitis, Verrucae, Recurrent ba... ORPHA:217390
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased specific anti-polysaccharide antibody level, Complete or near-comple... ORPHA:70593
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:613502
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG2 lev... OMIM:300310
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Recurrent respiratory infections, Decreased specific anti-polysacch... OMIM:300853
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:613500
Immunodeficiency 62
Decreased circulating total IgM, Reduced isohemagglutinin level, Recurrent lower respiratory trac... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgA leve... OMIM:619707
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ot... OMIM:612692
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Whim Syndrome 1
Verrucae, Decreased circulating IgG level, Bronchiectasis, Recurrent upper respiratory tract infe... OMIM:193670
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Chronic (near) absent circulating IgG4, Reduced isohemagglutini... OMIM:614699
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Pulmonary bulla, Increased circulating IgE level, Reduced circul... OMIM:619632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Decreased circulating IgG2 ... OMIM:615513
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Decreased circulating IgA level OMIM:609529
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Facial papilloma, Recurrent lower respiratory tract infections, Increased circulating IgM level, ... 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
Arthritis, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, Otitis media OMIM:601457
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Recurrent respiratory infections, Decreased circul... OMIM:615206
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Pneumocystosis
Dyspnea, Neoplasm, Interstitial pneumonitis, Increased circulating antibody level, Respiratory in... ORPHA:723
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137100
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Asthma, Allergic rhinitis OMIM:147050
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Chronic pulmonary obstruction, Atrophic gastritis, Recurrent ... OMIM:616576
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating total IgM, Chronic bronchitis, Decreased circulating IgA level, Decreased c... OMIM:614069
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... OMIM:178500
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... ORPHA:1303
Immunodeficiency 70
Decreased circulating total IgM, Verrucae, Colitis, Decreased circulating total IgA, Decreased ci... OMIM:618969
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... OMIM:612444
Acute Lung Injury
Abnormality of tumor necrosis factor secretion, Dyspnea, Tachypnea, Diffuse alveolar hemorrhage, ... ORPHA:178320
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Hamartoma ORPHA:141152
Immunodeficiency 102
Decreased circulating total IgM, Chronic sinusitis, Increased circulating interleukin 6 concentra... OMIM:301082
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Increased circulating IgG level, Re... OMIM:618982
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating total IgA, Chronic oral candidiasis, ... ORPHA:169160
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased circulating total IgM, Ulcerative colitis, Decrease... OMIM:614878
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Dyspnea, Increased circulating interleukin 6 conc... ORPHA:70578
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Inflammation of the large intestine, Skin rash, Partial absence... OMIM:618108
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Abnormality of humoral immunity, Increased circulating IgE ... ORPHA:277
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Chronic rhinitis, Decreased nasal nitri... OMIM:618695
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level OMIM:614102
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Myelodysplasia, Bronchiectasis, Osteomyelitis, Recurrent ... OMIM:608184
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... OMIM:615294
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Inflammation of the large intestine, Colitis, Decreased circulat... OMIM:619281
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent sinopulmonary infections, Decreased circulating total IgM, Atopic dermatitis, Squamous ... OMIM:243700
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Chronic bronchitis, Chronic rhinitis, Respirator... OMIM:615451
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Decreased circulating total IgM, Colitis, Ulcerative colitis,... OMIM:618394
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Ciliary Dyskinesia, Primary, 33
Atelectasis, Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent oti... OMIM:616726
Immunodeficiency 104
Recurrent otitis media, Pneumonia, Eczema, Otitis media, Chronic mucocutaneous candidiasis OMIM:608971
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Recurrent lower respiratory tract infections, Increased circulat... OMIM:618534
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Decreased ci... OMIM:619752
Idiopathic Achalasia
Cough, Bronchitis, Recurrent aspiration pneumonia, Wheezing ORPHA:930
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic sinusitis, Recurrent lower respiratory tract infections, Decreased specific pneumococcal ... ORPHA:183675
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, ... OMIM:253240
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, Erythema nodosum, Recurrent respira... OMIM:614700
Idiopathic Bronchiectasis
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... ORPHA:60033
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections OMIM:618806
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Ciliary Dyskinesia, Primary, 27
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic bronc... OMIM:615504
Aspergillosis
Pleuritis, Dyspnea, Abnormality on pulmonary function testing, Chronic pulmonary obstruction, Cou... ORPHA:1163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Decreased circulat... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphoproliferative disorder, Lymphoma, Abnormal immunoglobulin level, Skin rash, Cough, Recurren... ORPHA:276
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Abnormality of B cell physiology, Cutaneous anergy, Recurrent lower respiratory tract infections,... OMIM:600802
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... OMIM:619436
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Decreased circulating IgG level, Bronchiectasis, ... OMIM:241600
Immunodeficiency 52
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Chronic lung disease OMIM:617514
Immunodeficiency 32B
Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG level, Sinus... OMIM:226990
Mounier-Kühn Syndrome
Recurrent respiratory infections, Bronchitis, Pneumonia, Recurrent bronchopulmonary infections ORPHA:3347
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Ciliary Dyskinesia, Primary, 39
Cough, Recurrent lower respiratory tract infections, Decreased nasal nitric oxide, Chronic lung d... OMIM:618254
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunodeficiency 27A
Abnormal bronchus physiology, Increased circulating IgM level, Increased circulating IgG level, P... OMIM:209950
Immunodeficiency 92
Cholangitis, Partial absence of specific antibody response to tetanus vaccine, Abnormal B cell pr... OMIM:619652
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 105
Decreased circulating total IgM, Skin rash, Decreased circulating IgA level, Decreased circulatin... OMIM:619924
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent respiratory infections, Atopic dermatitis, Increased circulating IgE level, Chronic muc... OMIM:618282
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgA level, Recurrent lower respiratory tra... OMIM:619774
Immunodeficiency 56
Cholangitis, Recurrent respiratory infections, Recurrent otitis media, Recurrent pneumonia, Bronc... OMIM:615207
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Tularemia
Increased circulating antibody level, Skin rash, Cough, Respiratory distress, Inflammatory abnorm... ORPHA:3392
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... OMIM:300991
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent respiratory infections, Increased circulating IgE level, Recurrent otitis media, Bronch... OMIM:618523
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Recurrent respiratory infections, Decreased nasal nitric oxide, Re... OMIM:608644
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Microlissencephaly
Pneumonia ORPHA:1083
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 58
Chronic otitis media, Chronic pulmonary obstruction, Decreased specific antibody response to vacc... OMIM:618131
Autosomal Agammaglobulinemia
Chronic otitis media, Recurrent respiratory infections, Verrucae, Skin rash, Cough, Arthritis, He... ORPHA:33110
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Restrictive ventilatory defect, Cough, Abnormal ciliary motility, Chronic... OMIM:611884
Ciliary Dyskinesia, Primary, 28
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615505
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
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
Severe Acute Respiratory Syndrome
Dyspnea, Neoplasm, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic ... ORPHA:140896
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Decreased circulating IgA level, Increased circulating IgM level, Sinusitis, ... OMIM:242860
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Pana... OMIM:613490
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Chronic pulmonary obstruction, Partial absence of specific anti... OMIM:618986
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Immunodeficiency With Hyper-Igm, Type 1
Increased circulating IgA level, Impaired Ig class switch recombination, Stomatitis, Chronic hepa... OMIM:308230
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... OMIM:615481
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... 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, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgA level, Recurrent otitis media, Recurre... OMIM:615577
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... OMIM:615482
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Verrucae, Hashimoto thyroiditis, Recurrent aphthous stomatitis, Skin rash, Juvenile rheumatoid ar... ORPHA:275
Whim Syndrome
Verrucae, Cutaneous melanoma, Papilloma, Atelectasis, Severe periodontitis, Lymphadenitis, Respir... ORPHA:51636
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... ORPHA:3348
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:612649
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... OMIM:619466
Common Variable Immunodeficiency
Chronic otitis media, Recurrent respiratory infections, Restrictive ventilatory defect, Decreased... ORPHA:1572
Interstitial Lung Disease 1
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... OMIM:619611
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis ORPHA:319552
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Impaired nasal mucociliary clearance OMIM:618449
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Pa... OMIM:601495
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia OMIM:266265
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Lymphoma OMIM:619126
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Chronic pulmo... OMIM:616481
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Optic neuritis, Complete or near-complete absence of specific an... OMIM:301081
Agammaglobulinemia, X-Linked
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:300755
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... ORPHA:79127
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Decreased circulating total IgM, Oligoarthritis, Decreased circ... OMIM:619510
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Cough, Honeycomb lung, Pulmonary fibrosis, Bronchiectasis, A... ORPHA:2032
Selective Igm Deficiency
Chronic sinusitis, Decreased specific antibody response to vaccination, Chronic oral candidiasis,... ORPHA:331235
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating total IgM, Decreased circulating IgG level, Bronchiectasis, Crohn's disease... OMIM:619705
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Decreased circulating IgA level, Recurrent lower respiratory tract in... OMIM:616005
Immunodeficiency 12
Absent isohemagglutinin level, Skin rash, Recurrent aphthous stomatitis, Cheilitis, Recurrent low... OMIM:615468
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... OMIM:608647
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Desquamative interstitial pneumonitis, Recurrent lower respiratory tract infections, Decreased ci... OMIM:615952
Reticular Dysgenesis
Lack of T cell function, Impaired 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, Decreased circulating IgG2... OMIM:102700
Bloom Syndrome
Chronic pulmonary obstruction, Acute lymphoblastic leukemia, Respiratory failure, Neoplasm of the... ORPHA:125
Scedosporiosis
Bronchitis, Pleuritis, Abnormal respiratory system physiology, Endocarditis, Arthralgia/arthritis... ORPHA:449280
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Sinusitis, Recurrent otitis media, Infectious encephalitis, Septic arthrit... OMIM:307200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Recurrent respiratory infections, Lymphocytic interstitial pneumonia, Inc... OMIM:618495
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Aspiration pneumonia, Cough, Respiratory failure, Respiratory failure requiring assisted... ORPHA:90117
Ciliary Dyskinesia, Primary, 15
Neonatal respiratory distress, Recurrent respiratory infections, Chronic sinusitis, Cough, Chroni... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Chronic... OMIM:617092
Complement Factor B Deficiency
Peritonitis, Decreased circulating complement factor B concentration, Pneumonia OMIM:615561
Ciliary Dyskinesia, Primary, 12
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Recurrent respiratory inf... OMIM:612650
Pulmonary Alveolar Proteinosis, Acquired
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... OMIM:610910
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Cutaneous anergy, Colitis, Recurrent lower respiratory tract infections, Agammaglobu... OMIM:209920
Familial Nasal Acilia
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... ORPHA:922
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... OMIM:613807
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Chronic sinusitis, Cough, Chronic rhinitis, Recurrent otitis me... OMIM:614679
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Re... OMIM:617091
Riddle Syndrome
Bronchitis, Decreased circulating total IgM, Chronic sinusitis, Restrictive ventilatory defect, D... ORPHA:420741
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Skin rash, Arthritis, Si... ORPHA:229717
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis, Immotile cilia OMIM:618801
Yellow Nail Syndrome
Recurrent respiratory infections, Pleuritis, Dyspnea, Pulmonary arterial hypertension, Neoplasm, ... ORPHA:662
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Abnormality of B cell physiology, Recurrent lower respiratory tract infections, Impaire... OMIM:613179
Duodenal Atresia
Annular pancreas, Abnormality of the pancreas ORPHA:1203
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Acute otitis media, Recurrent respiratory infections, Decreased circulating total IgM, Skin rash,... ORPHA:35078
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Recurrent respiratory infections, Skin rash, Abnormality of humoral immunity,... ORPHA:572
Immunodeficiency 22
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Decreased circulat... OMIM:615758
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Abnormal ciliary motility, Chronic rhinitis, Bronchiecta... OMIM:614017
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic sinusitis, Respiratory insufficiency, Cough, Chronic br... OMIM:616037
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Chronic sinusitis, Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bron... OMIM:604571
Good Syndrome
Recurrent respiratory infections, Dyspnea, Thymoma, Cough, Recurrent skin infections, Sinusitis, ... ORPHA:169105
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphoproliferative disorder, Lymphoma, Stomatitis, Skin rash, Recurrent bacterial skin infection... ORPHA:911
Hereditary Pulmonary Alveolar Proteinosis
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, Respiratory di... ORPHA:264675
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Chronic sinusitis, Productive cough, Chronic rhinitis, Recurrent l... OMIM:618699
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Productive cough, Decreas... OMIM:618063
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:542323
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Chronic bronchitis, Respiratory insufficiency due to defective ... OMIM:614935
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Bronchiectasis, Neonatal asphyxia ORPHA:2375
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Reduced delayed hypersensitivity, Recurrent pneumonia, Bronchiectasis, Emp... OMIM:242700
Tempi Syndrome
Hemangioma, Hypoxemia, Transudative pleural effusion, Increased circulating IgG level, Abnormalit... ORPHA:284227
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Respiratory ... OMIM:615444
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Recurrent sinopulmonary infections, Recurrent aphthous stomatitis, Leukemia, Acute ly... ORPHA:486
Infant Acute Respiratory Distress Syndrome
Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema, Pneumonia, Respiratory fail... ORPHA:70587
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Uveitis, Hypoxemia, Pul... OMIM:612387
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Staphylococcal Necrotizing Pneumonia
Dyspnea, Tachypnea, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pulmonary pneuma... ORPHA:36238
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Immotile cilia, Recurrent bronchitis, Ciliary dyskinesia,... OMIM:613193
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Recurrent upper respiratory... OMIM:602450
Immunodeficiency 40
Focal active colitis, Respiratory tract infection, Chronic oral candidiasis, Reduced antigen-spec... OMIM:616433
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Panbronchiolitis, Diffuse
Wheezing, Cough, Hypoxemia, Bronchiectasis, Rhonchi, Crackles OMIM:604809
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... OMIM:610921
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic sinusitis, Atelectasis, Chronic rhinitis, Bronchiectasis, Pneumonia... OMIM:244400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Skin rash, Decreased circulating IgA level, Lymphadenitis, Reduc... ORPHA:331206
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent otitis media, Recurrent pneumonia, Bronc... OMIM:615518
Pancreatic Agenesis 2
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Pancreatic aplasia OMIM:615935
Pgm3-Cdg
Increased circulating IgA level, Chronic otitis media, Recurrent respiratory infections, Chronic ... ORPHA:443811
Fusariosis
Peritonitis, Lung abscess, Maculopapular exanthema, Productive cough, Hypersensitivity pneumoniti... ORPHA:228119
Immunodeficiency 23
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgM leve... OMIM:615816
Avian Influenza
Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Hepatitis, Respirato... ORPHA:454836
Q Fever
Myocarditis, Cryoglobulinemia, Maculopapular exanthema, Endocarditis, Increased circulating antib... ORPHA:781
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Colitis, Gastritis, Neoplasm of the tongue... ORPHA:3261
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Chronic cough, Bronchiectasis, Ci... OMIM:620197
Meconium Aspiration Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Atelectasis, Hypoxemia, Respiratory distre... ORPHA:70588
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Recurrent respiratory infections, Inflammatory abnormality of the skin, Tu... ORPHA:37042
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic calcification, Pancreatic pseudocyst OMIM:167800
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma OMIM:300484
Melioidosis
Lung abscess, Osteoarthritis, Respiratory tract infection, Parotitis, Hepatitis, Septic arthritis... ORPHA:31202
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Atelectasis, Decreased DLCO, Inter... ORPHA:79126
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Chronic otitis media, Eczematoid dermatitis, Atypi... ORPHA:83471
Immunodeficiency 82 With Systemic Inflammation
Bronchitis, Decreased circulating total IgM, Cholesteatoma, Skin rash, Colitis, Decreased circula... OMIM:619381
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Bronchogenic Cyst
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneum... ORPHA:2357
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly,... ORPHA:139507
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Abnormal circulating interferon-gamma concentration, Abnormal c... ORPHA:79124
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Ataxia-Telangiectasia
Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemia, Non-Hodgkin lymphoma, R... OMIM:208900
Congenital Tracheomalacia
Intercostal retractions, Productive cough, Pneumothorax, Pulmonary arterial hypertension, Dyspnea... ORPHA:95430
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Colitis, Recurrent pneumonia, Bronchiectasis, ... OMIM:301220
Lymphoid Interstitial Pneumonia
Dyspnea, Subpleural interstitial thickening, Decreased DLCO, Restrictive ventilatory defect, Ecze... ORPHA:79128
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... ORPHA:217563
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Lymphoproliferative disorder, Decreased circulating total IgM, I... OMIM:301000
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Dyspnea, Inflammation of the large intestine, Abnormality of T c... OMIM:181000
Brucellosis
Myocarditis, Increased circulating IgM level, Sacroiliac arthritis, Pulmonary granulomatosis, End... ORPHA:1304
Bacterial Toxic-Shock Syndrome
Peritonitis, Myocarditis, Glomerulonephritis, Tachypnea, Skin rash, Myositis, Arthritis, Respirat... ORPHA:36234
Postinfectious Vasculitis
Gastrointestinal inflammation, Recurrent streptococcus pneumoniae infections, Increased circulati... ORPHA:48435
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreatic adenocarcinoma, A... ORPHA:103918
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Increased circulating IgE level, Increased circulating IgG leve... OMIM:618213
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Decreased circulating total IgM, Decreased specific antibody respo... ORPHA:221139
Bronchial Neuroendocrine Tumor
Dyspnea, Bronchospasm, Nonproductive cough, Pulmonary carcinoid tumor, Pneumonia, Abnormal pulmon... ORPHA:97287
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Skin rash, Multiple myeloma, Osteoarthritis, Increased circulati... ORPHA:2298
Coccidioidomycosis
Peritonitis, Morbilliform rash, Skin rash, Cough, Pancreatitis, Arthritis, Increased circulating ... ORPHA:228123
Bloom Syndrome
Lymphoma, Decreased circulating total IgM, Malar rash, Leukemia, Decreased circulating IgA level,... OMIM:210900
Graft Versus Host Disease
Gastrointestinal inflammation, Acute hepatitis, Inflammatory abnormality of the skin, Stomatitis,... ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Aspiration pneumonia, Bronchiectasis, Apnea OMIM:618253
Nocardiosis
Peritonitis, Pleuritis, Productive cough, Respiratory failure, Pneumothorax, Cutaneous abscess, D... ORPHA:31204
Omenn Syndrome
Thyroiditis, Erythroderma, Pneumonia, Lymphoma ORPHA:39041
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Pleuritis, Dyspnea, Increased circulating interleukin 6 concentration, Acute colitis... ORPHA:544482
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Igg4-Related Kidney Disease
Pleuritis, Chronic sinusitis, Inflammatory abnormality of the skin, Increased circulating IgG4 le... ORPHA:449395
Aregenerative Anemia
Bone marrow hypocellularity, Dyspnea, Abnormality of interleukin secretion ORPHA:101096
Microsporidiosis
Peritonitis, Myocarditis, Keratoconjunctivitis, Bronchitis, Cholangitis, Endocarditis, Pancreatit... ORPHA:2552
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Hepatitis, Infectious encep... ORPHA:139402
Timothy Syndrome
Bronchitis, Pulmonary arterial hypertension, Pneumonia OMIM:601005
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Aspiration pneumonia, Apnea ORPHA:79264
X-Linked Lymphoproliferative Disease
Myocarditis, Recurrent respiratory infections, Pulmonary granulomatosis, Increased circulating Ig... ORPHA:2442
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Vulvar neoplasm, Dyspnea, Aspiration pneumonia, Uterine neoplas... ORPHA:1018
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Neoplasm, Pneumonia ORPHA:169090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating antibody level, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis... ORPHA:293978
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections, Abnormal respiratory system physiology, Respiratory ... ORPHA:98905
Cryptococcosis
Peritonitis, Dyspnea, Neoplasm, Cough, Respiratory distress, Osteomyelitis, Pneumonia, Pleural ef... ORPHA:1546
Leukocyte Adhesion Deficiency
Peritonitis, Chronic oral candidiasis, Impaired platelet aggregation, Perianal abscess, Acute mye... ORPHA:2968
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Skin rash, Recurrent lower respiratory t... OMIM:615846
Zygomycosis
Peritonitis, Myocarditis, Atelectasis, Colitis, Gastritis, Pneumothorax, Epistaxis, Endocarditis,... ORPHA:73263
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Fibrocystic lung disease, Recurrent pneumonia, Pneumonia, Rhinorrhea, Chron... OMIM:158310
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Aspiration pneumonia, Hypoventilation, Apnea, Respiratory distress, Recurrent pneumonia ORPHA:314655
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia, Central sleep apnea ORPHA:431361
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia, Enchondroma ORPHA:1855
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia ORPHA:216866
Hemorrhagic Fever-Renal Syndrome
Dyspnea, Glomerulonephritis, Increased circulating interleukin 6 concentration, Tubulointerstitia... ORPHA:340
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hamartoma OMIM:258865
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Pulmonary arterial hypertension, Atelectasis, Productive cough,... OMIM:615067
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Listeriosis
Peritonitis, Myocarditis, Endocarditis, Pyelonephritis, Pustule, Respiratory distress, Infectious... ORPHA:533
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea ORPHA:26793
Shwachman-Diamond Syndrome
Skin rash, Leukemia, Bone marrow hypocellularity, Myelodysplasia, Impaired neutrophil chemotaxis,... ORPHA:811
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Restrictive ventilatory defect, Juvenile rheumatoid arthritis, ... OMIM:607944
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Squamous cell carcinoma of the skin, Bone marrow hypocellularity, Myelodysplasia, Pulmon... OMIM:127550
Shigellosis
Peritonitis, Myocarditis, Acute colitis, Uveitis, Ulcerative colitis, Arthritis, Pneumonia, Conju... ORPHA:810
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent infections due to aspiration, Restrictive ventilatory de... ORPHA:70
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Dyspnea, Respiratory failure ORPHA:330021
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Pneumonia OMIM:603467
Obsolete: Arnold-Chiari Malformation Type Ii
Inspiratory stridor, Pneumonia, Apnea ORPHA:1136
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Breast carcinoma, Pneumonia, Endometrial carcinoma ORPHA:90790
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Skin rash ORPHA:247691
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Mirage Syndrome
Aspiration pneumonia, Myelodysplasia OMIM:617053
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Dyspnea, Pneumonia, Increased pulmonary vascular resistance, Ano... ORPHA:99104
Chops Syndrome
Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Sleep apnea, Anomalous pulmonary veno... OMIM:616368
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Dyspnea, Airway obstruction, Breathing dysregulation, Pneumonia,... ORPHA:99103
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Cholesteatoma, Apnea, Airway obstruction, ... OMIM:602535
Mucopolysaccharidosis, Type Vi
Pulmonary arterial hypertension, Restrictive ventilatory defect, Sleep apnea, Pneumonia, Recurren... OMIM:253200
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Sinusitis, Infectious encephalitis, Pneumonia, Pustule ORPHA:68
Gaucher Disease, Type Ii
Cough, Apnea, Bronchiolitis, Stridor, Recurrent aspiration pneumonia OMIM:230900
Bickerstaff Brainstem Encephalitis
Hypercapnia, Dyspnea, Respiratory tract infection, Pneumonia, Respiratory failure, Respiratory fa... ORPHA:79138
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dyspnea, Respiratory distress, Recurrent skin infections, Pneumoni... ORPHA:79404
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Chronic otitis media, Aspiration pneumonia, Respiratory tract... ORPHA:581
Cornelia De Lange Syndrome 1
Otitis media, Pneumonia OMIM:122470
Orotic Aciduria
Impaired T cell function OMIM:258900
Alpha-Mannosidosis, Infantile Form
Otitis media, Pneumonia ORPHA:309282
Igg4-Related Submandibular Gland Disease
Cholangitis, Abnormality of the submandibular glands, Abnormal salivary gland morphology, Retrope... ORPHA:449432
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Aspiration pneumonia, Weakness of muscles of respi... ORPHA:2020
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Keratitis, Inflammatory abnormality of the skin, Skin rash, Cough,... ORPHA:95455
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia, Hypopnea, Restrictive ventilatory defect, Hypoventilation, Apnea OMIM:619482
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Neoplasm, Meningioma, Pilomatrixoma, Obstructive sleep apnea, S... ORPHA:353281
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Coffin-Siris Syndrome
Aspiration pneumonia, Papillary thyroid carcinoma, Hepatoblastoma, Recurrent upper respiratory tr... ORPHA:1465
Degcags Syndrome
Pulmonary arterial hypertension, Tracheomalacia, Chronic lung disease, Pneumonia, Rhinitis, Asthma OMIM:619488
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Plague
Inflammation of the large intestine, Endocarditis, Skin rash, Lymphadenitis, Arthritis, Respirato... 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
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Tracheomalacia, Chronic lung disease, Slee... ORPHA:444077
Liver Disease, Severe Congenital
Peritonitis, Cholesteatoma, Status asthmaticus, Cough, Recurrent otitis media, Pulmonary edema, C... OMIM:619991
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aspiration, Recurrent respiratory infections, Meningioma, Pilomatrixoma, Obstructive sleep apnea,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aspiration, Recurrent respiratory infections, Meningioma, Pilomatrixoma, Obstructive sleep apnea,... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia OMIM:264090
Semilobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:220386
Alobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93926
Lobar Holoprosencephaly
Chronic lung disease, Aspiration pneumonia, Central apnea, Abnormal pattern of respiration ORPHA:93924
Niemann-Pick Disease Type C
Respiratory insufficiency, Aspiration pneumonia, Abnormal lung morphology, Respiratory failure ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Central sleep apnea, Hypoventilation, Apnea, Obstructive sleep apnea, Breat... ORPHA:438213
Doors Syndrome
Respiratory distress, Aspiration pneumonia, Capillary hemangioma ORPHA:79500
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Respiratory distress, Aspiration pneumonia, Pericarditis, Impaired neutrophil chemotaxis 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

Order Mouse and ES Cells

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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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