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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Pulmonary arterial hypertension, Increased pulmonary vascular resistance 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
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
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
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Recurrent respiratory infections, Pneumonia OMIM:226990
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chron... OMIM:612444
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Chronic sinusitis, Recurrent pneumonia, Ciliary dyskinesia, Neonatal resp... OMIM:615294
Cholesterol Pneumonia
Cough, Pneumonia, Tachypnea OMIM:215030
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis, Wheezing, Cough ORPHA:930
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... OMIM:616726
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis OMIM:618449
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Immunodeficiency 62
Bronchiectasis OMIM:618459
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Hamartoma, Upper airway obstruction, Dyspnea ORPHA:141152
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Immunodeficiency 104
Otitis media, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otitis media OMIM:608971
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... ORPHA:217390
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... OMIM:619611
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Bronchiectasis OMIM:620032
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Chronic rhinitis, Immotile cilia, Recurrent respiratory infections OMIM:618801
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Ciliary dyskinesia, Neonatal respirato... OMIM:612649
Immunodeficiency 48
Eczematoid dermatitis, Recurrent respiratory infections, Pneumonia OMIM:269840
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Hepatocellular carcinoma,... OMIM:613490
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia OMIM:247800
Immunodeficiency 75
Bronchiectasis, Lymphoma, Recurrent respiratory infections OMIM:619126
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Molar tooth sign on MRI, Cerebellar atr... OMIM:617622
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurrent respiratory infections OMIM:617092
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Joubert Syndrome 17
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614615
Severe Acute Respiratory Syndrome
Respiratory distress, Neoplasm, Chronic lung disease, Acute infectious pneumonia, Respiratory fai... ORPHA:140896
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615500
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... OMIM:618699
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology ORPHA:280195
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Pneumonia OMIM:614069
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Cd8 Deficiency, Familial
Bronchiectasis, Recurrent respiratory infections OMIM:608957
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Recurrent sinusitis, Chronic rhinitis, Recurrent bronchitis, Reduc... OMIM:617091
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ventilator... OMIM:610910
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, Arthritis, Pneumonia, Conjunctivitis OMIM:601457
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, Ab... OMIM:614017
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Chronic bronchitis, Cough, Wheezing, Chronic sinusitis, Recurrent pneumon... OMIM:613808
Microlissencephaly
Pneumonia ORPHA:1083
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Pneumonia, Esophagitis, Upp... ORPHA:3348
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Panbronchiolitis, Diffuse
Hypoxemia, Rhonchi, Crackles, Cough, Wheezing, Bronchiectasis OMIM:604809
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary... OMIM:612650
Immunodeficiency, Common Variable, 1
Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Pneumonia, Recurrent otitis media... OMIM:607594
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:1532
Pneumocystosis
Neoplasm, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Int... ORPHA:723
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI ORPHA:166024
Joubert Syndrome 32
Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Ciliary Dyskinesia, Primary, 17
Cough, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respira... OMIM:614679
Joubert Syndrome 40
Molar tooth sign on MRI OMIM:619582
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Cerebellar vermis hypoplasia, T... OMIM:610688
Ciliary Dyskinesia, Primary, 19
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:614935
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis... OMIM:616576
Ciliary Dyskinesia, Primary, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurrent otitis media, Bronchiect... OMIM:613193
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Otitis media, Neonatal respiratory distress, Wheezing, Cough, Chronic sinusit... OMIM:613807
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology, ... ORPHA:370022
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis... ORPHA:449280
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh... OMIM:618063
Joubert Syndrome 22
Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:615665
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI OMIM:617127
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Myelodysplasia, Recurrent upper respiratory tract infections, Osteomyelitis OMIM:608184
Yellow Nail Syndrome
Neoplasm, Sinusitis, Renal neoplasm, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial h... ORPHA:662
Joubert Syndrome 18
Molar tooth sign on MRI OMIM:614815
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Recurren... OMIM:618282
Ciliary Dyskinesia, Primary, 22
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Neonatal respir... OMIM:615444
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension, Uveitis, ... OMIM:612387
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... OMIM:615518
Aspergillosis
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneu... ORPHA:1163
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Coach Syndrome 2
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619111
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Arthritis, Pneumonia, Inflammatory abnormality of the eye, Re... ORPHA:229717
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Hodgkin lymphoma, B-cell lymphoma, Lymphoproliferative disorder, Lymphoma, Recurrent sinusitis, R... OMIM:300853
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Immunodeficiency, Common Variable, 2
Neoplasm, Lymphoma, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, Recurrent oti... OMIM:240500
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Meckel Syndrome, Type 10
Dilated fourth ventricle, Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:614175
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Periodontitis, Pneumonia, Recurrent otitis media OMIM:266265
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:618161
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Facial papilloma, Recurrent lower respiratory tract infections, Recurrent otitis ... OMIM:619220
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Pleural empyema, Acute infectious pneumonia... ORPHA:36238
Caspase 8 Deficiency
Asthma, Eczema, Recurrent sinopulmonary infections, Pneumonia OMIM:607271
Joubert Syndrome 7
Molar tooth sign on MRI, Brainstem dysplasia, Hypoplasia of the brainstem OMIM:611560
Joubert Syndrome 28
Molar tooth sign on MRI OMIM:617121
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Verrucae OMIM:193670
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infections, Hemangiom... ORPHA:486
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Hydrolethalus Syndrome 2
Molar tooth sign on MRI OMIM:614120
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Cholecystiti... ORPHA:183675
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Stomatitis OMIM:618648
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... OMIM:606763
Adult Krabbe Disease
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology ORPHA:206448
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:608629
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Hypoxemia, Pneumonia ORPHA:238459
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Recurrent pneumonia, Pneumonia OMIM:300400
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction OMIM:619223
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:277170
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, Inflammation of the large intestine, Perianal abscess... OMIM:618108
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:255182
Melioidosis
Prostatitis, Osteoarthritis, Acute infectious pneumonia, Hepatitis, Respiratory tract infection, ... ORPHA:31202
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Eczema, Atopic dermatitis, Recurrent sinusiti... OMIM:243700
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respirato... ORPHA:70578
Immunodeficiency 14A, Autosomal Dominant
Bronchiectasis, Recurrent sinopulmonary infections, Recurrent respiratory infections OMIM:615513
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Cough, Pleural effusion, Pneumonia... ORPHA:3392
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI OMIM:607131
Immunodeficiency, Common Variable, 8, With Autoimmunity
Asthma, Thyroiditis, Colitis, Conjunctivitis, Lymphoproliferative disorder, Atrophic gastritis, C... OMIM:614700
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Recurrent sinusitis, Recurrent pneumonia, Cho... OMIM:615207
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... ORPHA:33110
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Ciliary dyskinesia, Chronic sinusit... OMIM:244400
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Facial capillary hemangioma, Pneumonia OMIM:300209
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Joubert Syndrome 9
Molar tooth sign on MRI OMIM:612285
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Otitis media, Chronic otitis media, Lymphoma, Recurrent bronchitis... ORPHA:1572
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing OMIM:617577
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent sinopulmona... OMIM:614878
Aprosencephaly And Cerebellar Dysgenesis
Poorly formed metencephalon, Cerebellar dysplasia, Absent mesencephalon OMIM:601374
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Rhombencephalosynapsis, Dilated fourth ventricle, Cerebellar hypoplasia, Cerebellar vermis hypopl... OMIM:619306
Slc35A2-Cdg
Dandy-Walker malformation, Cerebellar atrophy, Abnormal midbrain morphology, Atrophy/Degeneration... ORPHA:356961
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Otitis media, Hepatitis, Recurrent pneumonia, Pneumonia, Erythroderma ORPHA:169160
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Avian Influenza
Respiratory distress, Conjunctivitis, Hypoxemia, Nonproductive cough, Myelitis, Tachypnea, Cough,... ORPHA:454836
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections, Cough OMIM:619468
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Hypersensitivity pneumonitis, Maculopapular exanthema, Perit... ORPHA:228119
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hamartoma OMIM:300484
Congenital Muscular Dystrophy With Cerebellar Involvement
Abnormal cerebellum morphology, Hypoplasia of the pons, Dilated fourth ventricle, Abnormal brains... ORPHA:370959
Meckel Syndrome, Type 4
Dandy-Walker malformation, Molar tooth sign on MRI, Agenesis of cerebellar vermis OMIM:611134
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619185
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Immunodeficiency 43
Bronchiectasis, Recurrent respiratory infections OMIM:241600
Immunodeficiency 58
Asthma, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respiratory t... OMIM:618131
Immunodeficiency 27A
Salmonella osteomyelitis, Abnormal bronchus physiology, Increased inflammatory response, Pneumonia OMIM:209950
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Recurrent skin infections, Recurrent upper respiratory tract infections, Atopic dermatiti... OMIM:619752
Whim Syndrome
Papilloma, Sinusitis, Cutaneous melanoma, Otitis media, Recurrent upper respiratory tract infecti... ORPHA:51636
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal ... ORPHA:163961
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Skin... ORPHA:79128
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... OMIM:608091
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent upper and lower respiratory tract infections, Colitis, Recurrent bacterial skin infecti... ORPHA:911
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cerebellar vermis hypoplasia, Abnormal pons morphology, Cerebellar cyst, Abnormal brainstem morph... ORPHA:370997
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Pneumonia, Dyspnea, Bronchogenic cyst, Pulmonary cyst ORPHA:2357
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Pneumonia ORPHA:319552
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Chronic bronchitis, Sinusitis, Pneumonia, Bronchiectasis OMIM:242860
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Epididymitis, Infectious encephalitis, P... OMIM:307200
Timothy Syndrome
Bronchitis, Pneumonia OMIM:601005
Spinocerebellar Ataxia Type 1
Loss of Purkinje cells in the cerebellar vermis, Atrophy/Degeneration affecting the brainstem, Ce... ORPHA:98755
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Recurrent bronchopulmonary infections, Pyoderma, Recurrent pneumonia, Emph... OMIM:242700
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Agenesis of cerebell... OMIM:213300
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619562
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic pulmonary obstruction, Chronic bronchitis, Lymphadenitis, Recurrent lower respiratory tra... OMIM:618986
Arima Syndrome
Aplasia/Hypoplasia of the cerebellar vermis, Dilated fourth ventricle, Agenesis of cerebellar ver... OMIM:243910
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Ulcerative colitis, Bronchiectasis, Recurrent sinopulmonary infections,... OMIM:618394
Selective Igm Deficiency
Keratitis, Multiple myeloma, Stomach cancer, Otitis media, Rheumatoid arthritis, Lymphadenitis, N... ORPHA:331235
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Hypoplasia of the pons OMIM:617542
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Chronic otitis media, Neonatal respiratory... ORPHA:244
Bronchial Neuroendocrine Tumor
Asthma, Nonproductive cough, Bronchospasm, Abnormal pulmonary interstitial morphology, Wheezing, ... ORPHA:97287
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Inferior cerebellar vermis hypoplasia, Abnormal mi... ORPHA:444072
Coach Syndrome 1
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Aplasia/Hypoplasia of the cerebellar vermis OMIM:216360
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hodgkin lymphoma, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infect... OMIM:615952
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:79279
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Hypoplasia of the pons, Abnormal brainstem morphology ORPHA:300573
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis... ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... ORPHA:276
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia OMIM:619476
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Eczema, Atrophic gastritis, Arthri... OMIM:616100
Bloom Syndrome
Cheilitis, Stomach cancer, Otitis media, Uveitis, Pneumonia, Rhinitis, Respiratory failure, Neopl... ORPHA:125
Nocardiosis
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... ORPHA:31204
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Restrictive ven... ORPHA:98897
Good Syndrome
Thymoma, Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea, Recurrent respirat... ORPHA:169105
Immunodeficiency 92
Osteomyelitis, Sclerosing cholangitis, Esophagitis, Cholangitis, Pneumonia OMIM:619652
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Cough, Hepatitis, Tubulointerstitial n... ORPHA:139402
Riddle Syndrome
Otitis media, Abnormal pulmonary interstitial morphology, Arthritis, Recurrent sinusitis, Bronchi... ORPHA:420741
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2318
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:220497
Amoebiasis Due To Free-Living Amoebae
Abnormal pons morphology, Abnormal cerebellum morphology, Abnormal brainstem MRI signal intensity... ORPHA:68
Omenn Syndrome
Erythroderma, Thyroiditis, Lymphoma, Pneumonia ORPHA:39041
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal cerebellum morphology, Dysgenesis of the cerebel... ORPHA:397715
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... ORPHA:39812
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Lymphoma, Recurrent lower ... OMIM:613179
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, Recurrent pneu... OMIM:158310
Microsporidiosis
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... ORPHA:2552
Japanese Encephalitis
Abnormal substantia nigra morphology, Abnormal pons morphology, Abnormal midbrain morphology ORPHA:79139
Joubert Syndrome 8
Molar tooth sign on MRI OMIM:612291
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Infl... ORPHA:37042
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:220493
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Aspiration pneumonia, C... ORPHA:1018
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Apnea OMIM:230900
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Cryptococcosis
Respiratory distress, Neoplasm, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pe... ORPHA:1546
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Chronic otitis media, Pneumonia ORPHA:169090
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea ORPHA:79264
Q Fever
Respiratory distress, Osteomyelitis, Maculopapular exanthema, Endocarditis, Abnormal pulmonary in... ORPHA:781
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis ORPHA:231154
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Pneum... OMIM:600802
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation ORPHA:204
Joubert Syndrome 5
Agenesis of cerebellar vermis, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, A... OMIM:610188
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Agammaglobulinemia, X-Linked
Prostatitis, Bronchiolitis obliterans, Pyoderma, Enteroviral hepatitis, Hepatocellular carcinoma,... OMIM:300755
Agammaglobulinemia 1, Autosomal Recessive
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Conjunctivitis,... OMIM:601495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Asthma, B-cell lymphoma, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Chronic muco... OMIM:102700
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Subpleural interstitial thickeni... ORPHA:60025
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Eczematoid dermatitis, Chronic oral candidiasis, S... ORPHA:83471
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:616300
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis, Central sleep apnea ORPHA:431361
Cerebellofaciodental Syndrome
Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the midbrain OMIM:616202
Duplication Of The Pituitary Gland
Abnormal midbrain morphology ORPHA:314621
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:616546
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Otitis media, Recurrent upper respiratory tract infections, Eczema, Inflammation of th... OMIM:600903
47,Xyy Syndrome
Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology ORPHA:8
Brucellosis
Osteomyelitis, Orchitis, Arteritis, Endocarditis, Glomerulonephritis, Myocarditis, Arthritis, Ant... ORPHA:1304
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Tenorio Syndrome
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia OMIM:616260
Leukocyte Adhesion Deficiency
Sinusitis, Osteomyelitis, Lymphocytic interstitial pneumonia, Chronic oral candidiasis, Otitis me... ORPHA:2968
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... ORPHA:73263
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hamartoma OMIM:258865
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem morphology, Abnormal brainstem MRI signal intensity ORPHA:88619
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Pneumonia OMIM:226300
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Juvenile rheumatoid arthritis, Arthritis, Hepatitis, Pneumonia ORPHA:1855
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Listeriosis
Respiratory distress, Osteomyelitis, Conjunctivitis, Pustule, Arteritis, Peritonitis, Endocarditi... ORPHA:533
Alpha-Mannosidosis, Adult Form
Pneumonia ORPHA:309288
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Tachypnea, Pneumonia ORPHA:26793
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Otitis media OMIM:602450
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis OMIM:619479
Oculocerebral Hypopigmentation Syndrome, Preus Type
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology ORPHA:2720
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri... ORPHA:228123
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... ORPHA:70
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology ORPHA:231160
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Dyskeratosis Congenita, Autosomal Dominant 1
Squamous cell carcinoma of the skin, Interstitial pneumonitis, Pulmonary fibrosis, Myelodysplasia OMIM:127550
Gangliocytoma
Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:251937
Shigellosis
Acute colitis, Peritonitis, Myocarditis, Arthritis, Uveitis, Pneumonia, Ulcerative colitis, Conju... ORPHA:810
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Breast carcinoma, Endometrial carcinoma, Pneumonia ORPHA:90790
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hyp... ORPHA:99104
Immunodeficiency 82 With Systemic Inflammation
Crohn's disease, B-cell lymphoma, Colitis, Gastritis, Osteomyelitis, Skin rash, Recurrent skin in... OMIM:619381
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pulmonary hemorrhage, Cough, Recurrent aspiration pneumonia, Chronic mucocutaneous candidiasis, P... ORPHA:79124
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Gm1 Gangliosidosis
Aspiration pneumonia, Infectious encephalitis, Recurrent respiratory infections ORPHA:354
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Pneumonia ORPHA:247691
Postinfectious Vasculitis
Bacterial endocarditis, Recurrent streptococcus pneumoniae infections, Inflammatory abnormality o... ORPHA:48435
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Chronic lun... OMIM:616368
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Pancreatitis, Recurrent bronchopulmonary ... OMIM:219700
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Insulin-Resistance Syndrome Type B
Hodgkin lymphoma, Multiple myeloma, Nephritis, Skin rash, Osteoarthritis, Lymphoma, Pneumonia ORPHA:2298
Shwachman-Diamond Syndrome
Sinusitis, Osteomyelitis, Skin rash, Eczema, Myelodysplasia, Pneumonia, Leukemia, Acute myeloid l... ORPHA:811
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia ORPHA:2135
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional dyspnea, P... ORPHA:99103
Meckel Syndrome, Type 1
Dilated fourth ventricle, Cerebellar hypoplasia, Chiari malformation, Molar tooth sign on MRI, Da... OMIM:249000
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Pancreatitis, Pleural empyema, Myocarditis, Pleuritis, Respiratory tract infection... ORPHA:544482
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Arteritis, Interstitial pneumoni... ORPHA:449395
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pulmonary edema, Epistaxis, Acute tubulointerstitial nephritis, Cough, Tubu... ORPHA:340
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Respiratory tract infection, Pne... ORPHA:79138
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Aicardi-Goutieres Syndrome 7
Skin rash, Atopic dermatitis, Chilblains, Arthritis, Recurrent lower respiratory tract infections... OMIM:615846
Wilson Disease
Face of the giant panda sign OMIM:277900
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Mirage Syndrome
Aspiration pneumonia, Myelodysplasia OMIM:617053
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pyoderma, Recurrent skin infections, Stridor, Squamous cell carcinoma, Pneu... ORPHA:79404
Mucopolysaccharidosis, Type Vi
Sleep apnea, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Pneumo... OMIM:253200
Cholera
Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology ORPHA:293987
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Hepatic hemangioma ORPHA:73230
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Molar tooth sign on MRI, Dandy-Walker malformation ORPHA:434179
Mucopolysaccharidosis Type 3
Otitis media, Aspiration pneumonia, Chronic otitis media, Upper airway obstruction, Respiratory t... ORPHA:581
Marshall-Smith Syndrome
Apnea, Airway obstruction, Aspiration pneumonia, Recurrent upper respiratory tract infections, Ch... OMIM:602535
Congenital Fiber-Type Disproportion Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration pneumonia, Weakness of muscles of re... ORPHA:2020
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation OMIM:619482
Leigh Syndrome With Cardiomyopathy
Abnormal brainstem morphology ORPHA:70474
Orofaciodigital Syndrome Xiv
Molar tooth sign on MRI, Cerebellar hypoplasia, Dandy-Walker malformation OMIM:615948
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Abnormal brainstem morphology ORPHA:93256
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Arthritis, Recurrent aspiration pneumonia, Neonatal respiratory distres... ORPHA:221139
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Keratitis, Respiratory distress, Inflammatory abnormality of the skin, Skin rash, Chronic lung di... ORPHA:95455
Alpha-Mannosidosis, Infantile Form
Pneumonia, Otitis media ORPHA:309282
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections, Hepatoblastoma, Papillary thy... ORPHA:1465
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Plague
Respiratory distress, Enterocolitis, Skin rash, Lymphadenitis, Endocarditis, Inflammation of the ... ORPHA:707
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Asthma, Neoplasm, Otitis media, Spinal cord tumor, Pilomatrixoma, Pneumonia, Meningioma, Recurren... ORPHA:353281
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Degcags Syndrome
Asthma, Rhinitis, Tracheomalacia, Chronic lung disease, Pneumonia, Pulmonary arterial hypertension OMIM:619488
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Sleep apnea, Tracheomalacia, Aspiration pneumonia, Chronic lung disease, Pulmonary arteri... ORPHA:444077
Liver Disease, Severe Congenital
Chronic gastritis, Status asthmaticus, Pulmonary edema, Peritonitis, Eczema, Cholesteatoma, Cough... OMIM:619991
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis, Pulmonary arte... ORPHA:280633
Arboleda-Tham Syndrome
Respiratory distress, Chronic otitis media, Recurrent aspiration pneumonia, Recurrent otitis medi... OMIM:616268
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Stridor, Tracheomalacia ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Asthma, Otitis media, Pilomatrixoma, Pneumonia, Aspiration, Meningioma, Recurrent respiratory inf... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Asthma, Otitis media, Pilomatrixoma, Pneumonia, Aspiration, Meningioma, Recurrent respiratory inf... ORPHA:353277
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormal brainstem morphology ORPHA:464311
Niemann-Pick Disease Type C
Aspiration pneumonia, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure ORPHA:646
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia OMIM:264090
Semilobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Abnormal pattern of respiration, Chronic lung disease, Central apnea ORPHA:93924
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Hypoventilation, Obstr... ORPHA:438213
Fontaine Progeroid Syndrome
Respiratory insufficiency, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pneumothorax, Pu... OMIM:612289
Doors Syndrome
Aspiration pneumonia, Capillary hemangioma, Respiratory distress ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Osteomyelitis, Fasciitis, Septic arthritis ORPHA:642
Kabuki Syndrome 1
Recurrent aspiration pneumonia, Recurrent otitis media OMIM:147920
Yunis-Varon Syndrome
Aspiration pneumonia, Pulmonary arterial hypertension OMIM:216340
Pmm2-Cdg
Aspiration pneumonia, Pericarditis, Respiratory distress ORPHA:79318
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Increased pulmonary vascular resistance 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.

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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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