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Gene: Smad9 MGI:1859993

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
SMAD family member 9
Synonyms:
SMAD8A,  SMAD8B,  MADH6,  Madh9

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Smad9 mutations

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

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

The table below shows human diseases associated to Smad9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pulmonary Hypertension, Primary, 2
OMIM:615342

The table below shows human diseases predicted to be associated to Smad9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Immunodeficiency 51
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... OMIM:613953
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Tumor Predisposition Syndrome 1
Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena... OMIM:614327
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Meckel Syndrome 13
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:617562
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... OMIM:608971
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic sinusitis, Rhinitis, Rec... OMIM:615504
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Lymphoma OMIM:619126
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Verrucae, Chronic otitis media, Squamous cell carcinoma of the vulv... ORPHA:217390
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Recurrent sinusitis OMIM:300991
Immunodeficiency 116
Recurrent respiratory infections, Bronchiectasis OMIM:608957
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis OMIM:247800
Combined Immunodeficiency, X-Linked
Pneumonia, Sinusitis, Recurrent bronchitis, Otitis media OMIM:312863
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... OMIM:604571
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Bronchiectasis OMIM:617638
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Aspiration pneumonia ORPHA:141152
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Hypoplasia of the pons ORPHA:280195
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Lung adenocarcinoma, Nephroblasto... OMIM:151623
Microlissencephaly
Pneumonia ORPHA:1083
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:617127
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Superior cerebellar dysplasia, Molar tooth sign on... OMIM:617622
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Abnormal cerebellum morphology, Cerebellar vermis hypoplasia ORPHA:1532
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Elongated su... OMIM:610688
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI OMIM:614465
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Chronic otitis media OMIM:617092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis, Hepatocellular carcinoma OMIM:613490
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections,... OMIM:616576
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis... OMIM:607594
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Myelodysplasia, Bronchiectasis OMIM:608184
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Activated Pi3K-Delta Syndrome
Pneumonia, Lymphoma, Recurrent otitis media, Chronic sinusitis, Arthritis, Bronchiectasis, Recurr... ORPHA:397596
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:615665
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615482
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Immunodeficiency 48
Pneumonia, Recurrent respiratory infections, Eczematoid dermatitis OMIM:269840
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent otitis media, Lymphoproliferative disorder, Recurrent bronchitis, Recurrent s... OMIM:300853
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Bronchiectasis, Chronic sinusitis, Chronic rhinitis OMIM:614017
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615500
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619111
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis OMIM:266265
Isolated Agammaglobulinemia
Pneumonia, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the eye, Re... ORPHA:229717
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Recurrent lower respiratory tract infections, Facial papilloma, Bronchiec... OMIM:619220
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res... OMIM:613808
Whim Syndrome 1
Recurrent upper respiratory tract infections, Verrucae, Bronchiectasis OMIM:193670
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Chronic ot... OMIM:612650
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Joubert Syndrome 7
Brainstem dysplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Scedosporiosis
Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar... ORPHA:449280
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Lymphoma, Recurrent otitis media, Neoplasm, Recurrent bronchitis, Recurrent ... OMIM:240500
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Rhinitis, Sarcoma, Sinusitis, Renal neoplasm, Recurrent respira... ORPHA:662
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Joubert Syndrome 18
Agenesis of cerebellar vermis, Molar tooth sign on MRI OMIM:614815
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Bronchiectasis OMIM:615513
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Hodgkin lymphoma, Bronchiectasis, Recurrent sinusitis OMIM:620282
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Myelodysplasia, Recurrent skin infection... ORPHA:486
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Chronic mucocutaneou... OMIM:614868
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Chronic oral candidiasis OMIM:300400
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Recur... OMIM:620321
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Pneumonia, Atrophic gastritis, Recurrent upper respiratory tract infections, Inflammation of the ... ORPHA:436159
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Caspase 8 Deficiency
Pneumonia, Recurrent sinopulmonary infections, Eczematoid dermatitis OMIM:607271
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:608629
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Meckel Syndrome, Type 10
Cerebellar hypoplasia, Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI OMIM:614175
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Hemato... ORPHA:1163
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology ORPHA:206448
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal brainstem morphology, Abnormal cerebellum morphology ORPHA:255182
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Respiratory tract infecti... ORPHA:31202
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic hepatitis due to crypto... OMIM:615207
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Gastritis, Perianal abscess, Recurrent respirator... OMIM:618108
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess OMIM:619223
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Slc35A2-Cdg
Abnormal midbrain morphology, Dandy-Walker malformation, Cerebellar atrophy, Atrophy/Degeneration... ORPHA:356961
Severe Acute Respiratory Syndrome
Neoplasm, Acute infectious pneumonia ORPHA:140896
Immunodeficiency 62
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Autosomal Agammaglobulinemia
Verrucae, Chronic otitis media, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjun... ORPHA:33110
Infant Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis ORPHA:70587
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... OMIM:243700
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Atrophic gastritis, Recurrent pneumonia, Inflammation of the large intestine, Lymphoma... OMIM:614700
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Recurrent respiratory infections, Bronc... OMIM:618523
Immunodeficiency 32B
Pneumonia, Recurrent respiratory infections, Bronchiectasis, Sinusitis OMIM:226990
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ... OMIM:615444
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Bronchiectasis, Herpes simplex encephalitis OMIM:618982
Pneumocystosis
Neoplasm, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Acute infectious ... ORPHA:723
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Erythema nodosum, Inflam... ORPHA:3392
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, Lymphaden... ORPHA:51636
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Cerebellar h... OMIM:619306
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal brainstem morphology, Dilated fourt... ORPHA:370959
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis OMIM:614069
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Common Variable Immunodeficiency
Pneumonia, Chronic otitis media, Lymphoma, Emphysema, Recurrent bronchitis, Otitis media, Gastroi... ORPHA:1572
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Dandy-Walker malformation, Molar tooth sign on MRI OMIM:611134
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma OMIM:300484
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma, Chronic oral candidiasis ORPHA:169160
Joubert Syndrome 2
Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, Brainstem dysplasia, Elongated ... OMIM:608091
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... ORPHA:228119
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Cerebellar atrophy, Hypoplasia of the pons ORPHA:300573
Joubert Syndrome 14
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Agenesis of c... OMIM:614424
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infec... OMIM:242700
Tubulinopathy-Associated Dysgyria
Abnormal brainstem morphology, Hypoplasia of the pons, Cerebellar vermis hypoplasia ORPHA:467166
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar cyst, Abnormal brainstem morphology, Abnormal pons morphology, Cerebellar vermis hypop... ORPHA:370997
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Lymphoma, Skin rash, Chronic oral ca... ORPHA:911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Bronchiectasis, Chronic bronchitis, Sinusitis OMIM:242860
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Alpha-1-Antitrypsin Deficiency
Hepatitis, Bronchitis, Emphysema, Panniculitis, Bronchiectasis, Hepatocellular carcinoma ORPHA:60
Acute Lung Injury
Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Acute pancrea... ORPHA:178320
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiecta... OMIM:619752
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Hypoplasia of the brainstem, B... OMIM:213300
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Ciliary Dyskinesia, Primary, 2
Sinusitis, Recurrent respiratory infections, Bronchiectasis, Otitis media OMIM:606763
Staphylococcal Necrotizing Pneumonia
Pneumonia, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmonary pneumatocele, Pl... ORPHA:36238
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Verrucae, C... OMIM:618131
Immunodeficiency 27A
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis OMIM:209950
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Salmonella osteomyelitis, Lymphadenitis ORPHA:319552
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Recurrent sinopulmonary infections, Colitis, Pulmonary fibro... OMIM:618394
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Chronic oral candidiasis OMIM:150550
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis OMIM:620296
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Lymphadenitis, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit... OMIM:618986
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal brainstem morphology, Agenesis of cerebellar vermis, Dandy-Walker malformation, Cerebell... ORPHA:163961
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypo... ORPHA:444072
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Infectious encephalitis, Prostatitis, Enteroviral he... OMIM:307200
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Panbronchiolitis, Diffuse
Bronchiectasis OMIM:604809
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619476
Coach Syndrome 1
Cerebellar vermis hypoplasia, Aplasia/Hypoplasia of the cerebellar vermis, Molar tooth sign on MRI OMIM:216360
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis OMIM:617577
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Recurrent bronchitis, Mul... ORPHA:331235
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Psoriasi... OMIM:616100
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, Ho... OMIM:615952
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Pancreatitis ORPHA:70578
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morphology, Cerebellar atroph... ORPHA:98755
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Primary Ciliary Dyskinesia
Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract infection, Chron... ORPHA:244
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2318
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Chronic mucocutaneous candidiasis, Lymphoma, Skin rash, Recurrent cutaneous fungal inf... ORPHA:276
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis OMIM:619652
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:220497
Bloom Syndrome
Pneumonia, Neoplasm of the skin, Cheilitis, Bronchitis, Lymphoma, Malignant genitourinary tract t... ORPHA:125
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Abnormal cerebellum morphology... ORPHA:397715
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Respiratory tract infection, Skin rash, Infectiou... ORPHA:36234
Japanese Encephalitis
Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology ORPHA:79139
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M... ORPHA:39812
Omenn Syndrome
Pneumonia, Erythroderma, Thyroiditis, Lymphoma ORPHA:39041
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebellum morpholo... ORPHA:68
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, Conjunct... ORPHA:454836
Microsporidiosis
Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Bronchitis, Hepatitis, Keratitis, Osteomyelit... ORPHA:2552
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:220493
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Immunodeficiency 43
Recurrent respiratory infections, Bronchiectasis, Lung abscess OMIM:241600
Joubert Syndrome 5
Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Thickened superior ce... OMIM:610188
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... ORPHA:37042
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Good Syndrome
Thymoma, Sinusitis, Recurrent respiratory infections, Recurrent skin infections, Bronchiectasis ORPHA:169105
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Chronic lymphatic leukemia, B-cell lymphoma, Recurr... OMIM:616005
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Recurrent respi... OMIM:601495
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Lymphoma, Otitis media, Sinusitis, Recur... OMIM:613179
Riddle Syndrome
Pneumonia, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis, Chronic sinusitis,... ORPHA:420741
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Neoplasm, Chronic otitis media ORPHA:169090
Arima Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Brainstem dy... OMIM:243910
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Keratitis, Aspiration pneumonia, Vaginal neoplasm, Diffuse leiomyomatosis, Vulv... ORPHA:1018
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Respiratory trac... ORPHA:79128
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Atypical or prolonged hepatitis, Sinusitis, Recurrent streptoco... ORPHA:83471
Nocardiosis
Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural effusio... ORPHA:31204
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infect... OMIM:600802
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Pyoderma, Epididymitis, Recurrent si... OMIM:300755
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia ORPHA:204
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectious encephalitis, My... ORPHA:781
Cerebellofaciodental Syndrome
Cerebellar hypoplasia, Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:616546
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology, Pulmonary carcinoid tumor ORPHA:97287
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Cryptococcosis
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Neoplasm, Prostati... ORPHA:1546
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
47,Xyy Syndrome
Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis ORPHA:8
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hamartoma OMIM:258865
Brucellosis
Pneumonia, Hip osteoarthritis, Pulmonary granulomatosis, Arteritis, Bronchitis, Sacroiliac arthri... ORPHA:1304
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cerebellar hypoplasia, Dandy-Walker malformation, Molar tooth sign on MRI OMIM:616300
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Zygomycosis
Nephritis, Hepatitis, Atelectasis, Fasciitis, Pleural effusion, Infectious encephalitis, Pustule,... ORPHA:73263
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Ple... ORPHA:829
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia ORPHA:79243
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Otitis media OMIM:602450
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular exanthema, Uv... ORPHA:499009
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Enchondroma, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Molar tooth sign on MRI OMIM:619479
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Bronchitis, Pustular rash, Hepatitis, Recurrent otitis media, Osteomyelitis, Skin rash... OMIM:619381
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Shigellosis
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... ORPHA:810
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum ORPHA:2720
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Endometrial carcinoma, Breast carcinoma ORPHA:90790
Gangliocytoma
Abnormal brainstem morphology, Abnormal cerebellum morphology ORPHA:251937
Leukocyte Adhesion Deficiency
Pneumonia, Vaginitis, Osteomyelitis, Recurrent aphthous stomatitis, Respiratory tract infection, ... ORPHA:2968
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Listeriosis
Pneumonia, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalitis, Pust... ORPHA:533
Coccidioidomycosis
Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Skin rash,... ORPHA:228123
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Skin rash ORPHA:247691
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Pulmonary hemorrhage, Recurr... ORPHA:79124
Postinfectious Vasculitis
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... ORPHA:48435
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Meckel Syndrome, Type 1
Chiari malformation, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI, Da... OMIM:249000
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cerebellar hypoplasia, Abnormal brainstem morphology, Cerebellar atrophy OMIM:301310
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Pulmonary fibrosis, Interstitial pneumonitis, Myelodysplasia OMIM:127550
Shwachman-Diamond Syndrome
Pneumonia, Eczematoid dermatitis, Osteomyelitis, Skin rash, Acute myeloid leukemia, Sinusitis, Le... ORPHA:811
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urinary bladder inflammation, Int... ORPHA:449395
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Lymphoma, Skin rash, Hodgkin lymphoma, Osteoarthritis, Multiple myeloma ORPHA:2298
Mirage Syndrome
Myelodysplasia, Aspiration pneumonia OMIM:617053
Hennekam-Beemer Syndrome
Pneumonia ORPHA:2135
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Aicardi-Goutieres Syndrome 7
Pneumonia, Atrophic gastritis, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Arthritis, Re... OMIM:615846
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Respiratory tract infection, Pancreatitis, Myocarditis, Septic arthritis, Pleuritis, A... ORPHA:544482
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Recurrent aspiration pneumonia ORPHA:73230
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Orofaciodigital Syndrome Xiv
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Dandy-Walker malformation, Molar tooth sign ... OMIM:615948
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Dandy-Walker malformation, Molar tooth sign on MRI ORPHA:434179
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Mucopolysaccharidosis Type 3
Aspiration pneumonia, Otitis media, Respiratory tract infection, Recurrent sinopulmonary infectio... ORPHA:581
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Wilson Disease
Face of the giant panda sign OMIM:277900
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Pleural effusion, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephritis, A... ORPHA:340
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Pyoderma, Squamous cell carcinoma, Pneumothorax, Gastrointestinal inflammation, Recurr... ORPHA:79404
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Cholera
Aspiration pneumonia ORPHA:173
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent aspiration pneumonia, Psoriasiform dermatitis, Arthritis, Chronic oral candidiasis ORPHA:221139
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Marshall-Smith Syndrome
Cholesteatoma, Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspi... OMIM:602535
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection ORPHA:79138
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Hepatoblastoma, Papillary thyroid carcinoma, Aspira... ORPHA:1465
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Plague
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Meningioma, Neoplasm, Otitis media, Pilomatrixoma, Recurrent respiratory infections, S... ORPHA:353281
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Skin rash, Keratoconjunctivitis sicca... ORPHA:95455
Neuroleptic Malignant Syndrome
Aspiration pneumonia ORPHA:94093
Atrial Septal Defect, Ostium Secundum Type
Pneumonia ORPHA:99103
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Degcags Syndrome
Pneumonia, Rhinitis OMIM:619488
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis ORPHA:280633
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Liver Disease, Severe Congenital
Pneumonia, Eczematoid dermatitis, Recurrent otitis media, Chronic gastritis, Pulmonary edema, Cho... OMIM:619991
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology ORPHA:464311
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent otitis media, Conjunctivitis, Recurrent aspiration pn... OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Meningioma, Otitis media, Pilomatrixoma, Recurrent respiratory infections ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Meningioma, Otitis media, Pilomatrixoma, Recurrent respiratory infections ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Chronic Visceral Acid Sphingomyelinase Deficiency
Acute promyelocytic leukemia, Abnormal pulmonary interstitial morphology, Neoplasm of the liver, ... ORPHA:77293
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia OMIM:612289
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Doors Syndrome
Capillary hemangioma, Aspiration pneumonia ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Septic arthritis, Osteomyelitis, Recurrent aspiration pneumonia, Fasciitis ORPHA:642
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia OMIM:147920
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Pericarditis, Aspiration pneumonia ORPHA:79318
Pulmonary Hypertension, Primary, 2
OMIM:615342

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 Smad9

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 Smad9.

No publications found that use IMPC mice or data for Smad9.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Smad9tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Smad9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Smad9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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