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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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
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 Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

8 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 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Immunodeficiency 24
Decreased circulating IgG level, Lymphoproliferative disorder, Respiratory tract infection, Defec... OMIM:615897
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration 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
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Respira... OMIM:619773
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Increased circulating I... OMIM:605258
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative... OMIM:617638
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Immunodeficiency 48
Recurrent respiratory infections, Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia OMIM:269840
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Reduced isohemagglutinin level... OMIM:613493
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis... OMIM:240500
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... OMIM:613502
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Lymphoproliferative disorder, B-cell lymphoma, Lymphoma, Decrea... OMIM:300853
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Hodgkin lymphoma, Rec... OMIM:620282
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas... ORPHA:217390
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Immunodeficiency 62
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ... OMIM:619707
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre... OMIM:612692
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Chronic (near) absent circulating IgG4, Reduced isohemagglutini... OMIM:614699
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis, Increased c... OMIM:615513
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... OMIM:300310
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Decreased circulating IgA level OMIM:609529
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Facial papilloma, Increased circulating IgG level, Increased circulating IgM leve... OMIM:619220
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 11A
Agammaglobulinemia, Recurrent respiratory infections, Reduced antigen-specific T cell proliferati... OMIM:615206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia OMIM:601457
Activated Pi3K-Delta Syndrome
Pneumonia, Lymphoma, Bronchiectasis, Decreased circulating antibody level, Increased circulating ... ORPHA:397596
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... 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
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Chronic pulmon... OMIM:616576
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... OMIM:178500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract... ORPHA:436159
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... ORPHA:178320
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infections OMIM:618987
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma ORPHA:141152
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ... OMIM:301082
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ... ORPHA:169160
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... ORPHA:70578
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent upper... ORPHA:277
Myeloma, Multiple
Paraproteinemia, Multiple myeloma OMIM:254500
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level OMIM:614102
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Myelodysplasia, Impaired Ig class switch recombination, Recurrent upper respirator... OMIM:608184
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Infla... OMIM:619281
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Asthma, I... OMIM:243700
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Immunodeficiency 104
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media OMIM:608971
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot... OMIM:618394
Immunodeficiency 64 With Lymphoproliferation
B-cell lymphoma, Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level... OMIM:618534
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper respiratory t... OMIM:619752
Oculorenocerebellar Syndrome
Choreoathetosis, Retinal degeneration OMIM:257970
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... OMIM:610163
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating IgG level, Psori... ORPHA:183675
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoprolif... ORPHA:276
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Dyspnea, Asthma, Increase... ORPHA:1163
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Immunodeficiency 52
Recurrent pneumonia, Bronchiectasis, Chronic lung disease, Decreased circulating antibody level OMIM:617514
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, Impaired oxidative burst,... OMIM:226990
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent upper respirator... OMIM:600802
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating to... OMIM:619824
Immunodeficiency 105
Skin rash, B-cell lymphoma, Decreased circulating antibody level, Decreased circulating total IgM... OMIM:619924
Immunodeficiency 92
Osteomyelitis, Cholangitis, Pneumonia, Sclerosing cholangitis, Abnormal B cell proliferation, Eso... OMIM:619652
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Increased circulating I... OMIM:209950
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir... OMIM:618282
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Bronchiolitis obliterans, Increased circulating IgM leve... OMIM:617241
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Increased circulati... ORPHA:3392
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Increased circulating IgE level, Bronchiecta... OMIM:618523
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Pulmonary fibrosis, Decreased c... OMIM:611926
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea... OMIM:242860
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... OMIM:618986
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can... ORPHA:98813
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
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
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis OMIM:266265
Immunodeficiency, Common Variable, 10
Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Recurrent viral upper respiratory tract inf... OMIM:615577
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recur... ORPHA:275
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Gastrointestinal stroma tumor, Lymphoma, Bronchiecta... ORPHA:1572
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating total IgM, Decrea... OMIM:619510
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Cheilitis,... OMIM:615468
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic ... OMIM:616005
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Hodg... OMIM:615952
Selective Igm Deficiency
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec... ORPHA:331235
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Increased circulating IgG level, Recurrent otitis media, Recu... OMIM:618495
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... OMIM:307200
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Wheezing, Bronchiectasis, Recurrent pneumonia, ... OMIM:300755
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Chronic mucocutaneous... OMIM:209920
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Bloom Syndrome
Bronchitis, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreased circulating IgG le... ORPHA:125
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Complement Factor B Deficiency
Peritonitis, Pneumonia, Decreased circulating complement factor B concentration OMIM:615561
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pneumonia, Recurrent upper respiratory tract infections, Lym... OMIM:613179
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Sinusitis, Skin rash, Acute otitis media, Lack of T cell functi... ORPHA:572
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Acute otitis media,... ORPHA:35078
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Immunodeficiency 22
Pericarditis, Recurrent upper respiratory tract infections, Decreased circulating total IgM, Pann... OMIM:615758
Good Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Dyspnea, Bronchiectasis, ... ORPHA:169105
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... ORPHA:911
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... ORPHA:662
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... ORPHA:542323
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Pyoderma, Reduced del... OMIM:242700
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Abnormality of the pul... ORPHA:284227
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Lymphoproliferative disorder, Recurrent upper respiratory tract infect... OMIM:614868
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE level, Otitis ... OMIM:602450
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Interstitial pneumonitis, Reduced antigen-speci... OMIM:616433
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased circulating total IgM, ... ORPHA:331206
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Pgm3-Cdg
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema... ORPHA:443811
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... ORPHA:228119
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin... OMIM:615816
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Psoriasiform dermatitis, Osteom... ORPHA:37042
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Decreased circulating IgG l... ORPHA:3261
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Decreased lymphocyte prolifer... ORPHA:83471
Melioidosis
Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, Hepatit... ORPHA:31202
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Bronchitis, Skin rash, Recurrent skin ... OMIM:619381
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... ORPHA:2357
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Abnormal circulating interfe... ORPHA:79124
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Recurrent bronchitis, Lymphoma, Bronchiectasis, Hodgk... OMIM:208900
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Eczema, Epistaxis, Reduced natural killer cell activity, Increased ... OMIM:301000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Dyspnea, Iridocyclitis, Bronchiectasis, Uveitis, Abnormal pulmo... OMIM:181000
Brucellosis
Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epidid... ORPHA:1304
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Respir... ORPHA:36234
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, I... OMIM:618213
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... ORPHA:103918
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymph... ORPHA:221139
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Coccidioidomycosis
Respiratory distress, Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Morbilliform rash, Eryth... ORPHA:228123
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Lymphocytoma cutis, Increased circulating IgG level, Tub... ORPHA:449395
Omenn Syndrome
Lymphoma, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Aregenerative Anemia
Dyspnea, Abnormality of interleukin secretion, Bone marrow hypocellularity ORPHA:101096
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Bronchitis, Pneumonia, Keratitis, Lymphadenitis,... ORPHA:2552
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Respiratory tract infection, Dyspne... ORPHA:544482
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar... ORPHA:1018
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Neoplasm, Pneumonia ORPHA:169090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Respi... ORPHA:2968
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Arthritis, In... OMIM:615846
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl... ORPHA:340
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Listeriosis
Respiratory distress, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, ... ORPHA:533
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Rheumatoid arthritis... OMIM:607944
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Sinusitis, Skin rash, Pneumonia, Eczema, Osteomyelitis, Myelodysplasia, B... ORPHA:811
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivitis, Acut... ORPHA:810
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Dyspnea, Interstitial pneumonitis, Squamous cell carcinoma of the skin, Bone marr... OMIM:127550
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity OMIM:603467
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Pneumonia, Breast carcinoma ORPHA:90790
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Mirage Syndrome
Myelodysplasia, Aspiration pneumonia OMIM:617053
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Chops Syndrome
Tracheomalacia, Chronic lung disease, Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious encephalitis ORPHA:68
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Mucopolysaccharidosis, Type Vi
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... OMIM:253200
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Orotic Aciduria
Impaired T cell function OMIM:258900
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Otitis... ORPHA:581
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Igg4-Related Submandibular Gland Disease
Cholangitis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas morphology, En... ORPHA:449432
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Spinal cord tumor, Neoplasm, ... ORPHA:353281
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Coffin-Siris Syndrome
Hepatoblastoma, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira... ORPHA:1465
Degcags Syndrome
Pneumonia, Asthma, Rhinitis, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease OMIM:619488
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Enterocolitis, End... ORPHA:707
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Liver Disease, Severe Congenital
Chronic gastritis, Eczema, Pneumonia, Peritonitis, Cough, Recurrent otitis media, Status asthmati... OMIM:619991
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Otitis media, Aspiration, Men... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Asthma, Otitis media, Aspiration, Men... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia OMIM:264090
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Doors Syndrome
Respiratory distress, Capillary hemangioma, Aspiration pneumonia ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation ORPHA:438213
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Respiratory distress, Pericarditis, Aspiration pneumonia, 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 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hepatocytic Activating Transcription Factor 3 Protects Against Steatohepatitis via Hepatocyte Nuclear Factor 4α. Diabetes (September 2021) Atf3tm2c(EUCOMM)Wtsi Atf3tm2a(EUCOMM)Wtsi 34475098
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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