Gene Summary

Name:
chloride channel accessory 1
Synonyms:
Clca3,  gob-5,  gob5

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hydrometra Clca1em2(IMPC)Mbp HOM Early adult 0.00
abnormal vibrissa morphology Clca1em2(IMPC)Mbp HOM Early adult 3.73×10-05
preweaning lethality, incomplete penetrance Clca1em2(IMPC)Mbp HOM   Early adult 0.00
small superior vagus ganglion Clca1em2(IMPC)Mbp HOM Early adult 0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Clca1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Clca1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Asthma, Eosinophilia, Pneumonia OMIM:617638
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Chronic otitis media, Cough, Recurrent sinusitis, Chronic rhinitis, Chron... OMIM:612444
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ... OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:618806
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Idiopathic Achalasia
Decreased prealbumin level, Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Immunodeficiency 50
Lymphopenia, Eczema, Decreased circulating antibody level, Neutropenia, Recurrent respiratory inf... OMIM:300988
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence of CD8-positive... OMIM:269840
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Rhinitis, C... OMIM:615505
Immunodeficiency 13
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... OMIM:615518
Immunodeficiency 104
Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon... OMIM:608971
Immunodeficiency 32B
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Abnormal central microtubular pair morphology of respiratory motile cilia, Re... OMIM:612649
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bronchitis, Recurrent otitis media, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615451
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, Rec... OMIM:620032
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Chronic bronchitis, Abnormal axonemal organization of respiratory motile ... OMIM:613808
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Otitis media, Purulent rhinitis, B lymphocytopenia, T lymphocytopenia, Arthritis, Panhypogammaglo... OMIM:601457
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal resp... OMIM:615294
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia OMIM:615214
Cholesterol Pneumonia
Cough, Pneumonia, Tachypnea OMIM:215030
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Ciliary... OMIM:615067
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recurrent sinopul... OMIM:279000
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Neonatal respiratory dis... OMIM:617091
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... OMIM:613490
Ciliary Dyskinesia, Primary, 45
Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... OMIM:618801
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
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, 30
Asthma, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Respira... OMIM:616037
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Otitis media, Absent inner dynein arms, Abnormal axonemal organization of res... OMIM:613807
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615500
Ciliary Dyskinesia, Primary, 35
Cough, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Nasal polyposis, Recurrent respirator... OMIM:617092
Acute Lung Injury
Respiratory distress, Abnormality of tumor necrosis factor secretion, Increased circulating inter... ORPHA:178320
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Abnormal central microtubular pair morphology of respiratory motil... OMIM:612650
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Intralobular septal thickening, ... OMIM:619611
Pneumocystosis
Increased circulating antibody level, Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxem... ORPHA:723
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... ORPHA:922
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic sinusitis, Chronic pulmonary obstruction, Recurrent respiratory infections OMIM:253240
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskinesia, Recurren... OMIM:613193
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restric... OMIM:610910
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:608647
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Elevated carcinoembryonic antigen level, Ac... ORPHA:264675
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... OMIM:604571
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent bronchitis, Cili... OMIM:616726
Immunodeficiency 89 And Autoimmunity
Asthma, Crohn's disease, Reduced circulating interleukin 27 concentration, Elevated circulating C... OMIM:619632
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... OMIM:300400
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic rhinitis, Chronic sinusitis, Ciliary dyskinesia, Abnormal ciliary m... OMIM:614017
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Combined Immunodeficiency Due To Dock8 Deficiency
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocyt... ORPHA:217390
Ciliary Dyskinesia, Primary, 32
Ciliary dyskinesia, Neonatal respiratory distress, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Recurrent sinopulmonary infections, Recurrent skin infections, Atr... OMIM:616576
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... OMIM:209950
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
Caspase 8 Deficiency
Asthma, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary... OMIM:607271
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:614935
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Impaired nasal mucociliary clearance, Recurrent otitis media, Bronchiectasis OMIM:618449
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Chronic lung disease, B lymphocytopenia, T lymphocytopenia, Inflammation of... OMIM:618108
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Chronic bronchitis, Pneumonia OMIM:614069
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Immunodeficiency 102
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... OMIM:301082
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Chronic bronchitis, T lymphocytope... OMIM:618986
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pulmonary hemorrhage, Giant platelets, Neutropenia, Pneumonia, T... ORPHA:238459
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:36238
Ciliary Dyskinesia, Primary, 17
Cough, Abnormal respiratory motile cilium morphology, Chronic rhinitis, Chronic sinusitis, Ciliar... OMIM:614679
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615444
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Cough, Chronic sinusitis, Neonatal respiratory distress, Bronchiectasis, Rh... OMIM:618063
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Cough, Respiratory fail... ORPHA:90117
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Decreased nasal nitric oxide, Ciliary dyskinesia, Recurrent respiratory infections OMIM:615872
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Aspirin-induced asthma, Nasal polyposis, Bronchoconstriction OMIM:208550
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Lymphopenia, Chronic oral candidiasis, Decreased circulatin... ORPHA:169160
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Neutrophilia, Bronchiolitis, Pneumonia, Recurrent otitis media, Reduction of neutr... OMIM:266265
Isolated Agammaglobulinemia
Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu... ORPHA:229717
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... OMIM:618982
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Immotile cilia, Bronchiectasis... OMIM:606763
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:193670
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Trimethylaminuria
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly OMIM:602079
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Cd8 Deficiency, Familial
Bronchiectasis, Absence of CD8-positive T cells, Recurrent respiratory infections OMIM:608957
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Recurrent pneumonia, Pneumonia, Upper airway obs... ORPHA:3348
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Airway obstruction, Abnormal respiratory motile cilium morphology, Chronic rhinitis, R... OMIM:242680
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eosinophilia, Eczema, Atopic dermatitis, Chronic mucocutaneous candidi... OMIM:618282
Aspergillosis
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... ORPHA:1163
Cryptogenic Organizing Pneumonia
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... ORPHA:1302
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Asthma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recurrent ... OMIM:619752
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Respira... ORPHA:133
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Pneumonia ORPHA:97244
Tularemia
Respiratory distress, Increased circulating antibody level, Conjunctivitis, Leukocytosis, Otitis ... ORPHA:3392
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis, Neonatal asphyxia, Congenital laryngeal stridor ORPHA:2375
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Abnormal blood gas level, Increased circulating i... ORPHA:70578
Immunodeficiency, Common Variable, 8, With Autoimmunity
B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... OMIM:614700
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis... OMIM:615482
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... OMIM:618394
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 92
Decreased circulating IgA level, Osteomyelitis, Decreased circulating IgG level, Lymphocytosis, L... OMIM:619652
Panbronchiolitis, Diffuse
Hypoxemia, Rhonchi, Crackles, Cough, Wheezing, Bronchiectasis OMIM:604809
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Asthma, Eosinophilic infiltration of the esophagus, Eosinophilia, Eczema, Atopic dermatitis, Decr... OMIM:243700
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hypoxemia, Splenomegaly, Abnormal pulmonary interstitial morphology, Pulmonary ar... OMIM:612387
Avian Influenza
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumothorax, Pneumo... ORPHA:454836
Ciliary Dyskinesia, Primary, 24
Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis OMIM:615481
Scedosporiosis
Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis, Bronchitis, Respirator... ORPHA:449280
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Chron... OMIM:618699
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia ORPHA:70592
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskines... OMIM:244400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia... OMIM:150550
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Decre... OMIM:615139
Ciliary Dyskinesia, Primary, 6
Sinusitis, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary dyskinesia... OMIM:610852
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Ne... OMIM:616740
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Ciliary dyskinesia, Immotile cilia, Abnormal respiratory system phys... OMIM:242670
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Lymphopenia, Rhinitis, Recurrent sinopulmonary infections, Recurrent skin infectio... ORPHA:486
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... ORPHA:231154
Omenn Syndrome
Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, ... OMIM:603554
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... OMIM:616100
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... OMIM:614878
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Keratitis, Eosinophilia, Eczema, Recurrent otitis media, Bronchiectasis, Increased circulating Ig... OMIM:618523
Laryngotracheoesophageal Cleft
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respiratory infections ORPHA:2004
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Bronchi... OMIM:608184
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Cough, Arth... ORPHA:33110
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent bacterial skin infections, Decreased circulating... ORPHA:276
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Immunodeficiency 43
Decreased circulating IgG level, Hypoproteinemia, Hypoalbuminemia, Bronchiectasis, Recurrent resp... OMIM:241600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... ORPHA:217563
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Acute Interstitial Pneumonia
Interlobular septal thickening, Elevated circulating C-reactive protein concentration, Subpleural... ORPHA:79126
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Acute inf... ORPHA:31202
Ciliary Dyskinesia, Primary, 10
Chronic otitis media, Abnormal respiratory motile cilium morphology, Recurrent sinusitis, Ciliary... OMIM:612518
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Tachypnea, Respiratory tract infection, Pneumonia, Hypoxemia, Respiratory failur... ORPHA:70587
T-Cell Immunodeficiency With Thymic Aplasia
Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus,... OMIM:242700
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Rectal ... OMIM:601495
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent upper and lower respiratory tract infections, Colitis, Recurrent bacterial skin infecti... ORPHA:911
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... OMIM:614470
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Lymphopenia, Hypersensitivity pneumonitis, Maculopapular exa... ORPHA:228119
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Chronic pulmonary obstruction OMIM:619223
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... OMIM:308240
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... ORPHA:754
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Otitis media, Autoimmune thrombocytopenia, Chronic otitis media, Hemol... ORPHA:1572
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Neutropenia in presence of anti-neutropil antibodies, Desquamative interstitial pneumonitis, Hepa... OMIM:615952
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Splenomegaly, Increased proport... OMIM:618534
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Decreased circulating IgA level, Chronic bronchitis, T lymphocytopenia, Increased circ... OMIM:242860
Adult-Onset Still Disease
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... ORPHA:829
Bacterial Toxic-Shock Syndrome
Respiratory distress, Abscess, Myocarditis, Pneumonia, Septic arthritis, Increased circulating my... ORPHA:36234
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Maculopapu... OMIM:619644
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Lymphopenia, Recurrent upper respiratory tract infections, T lymphocytope... OMIM:600802
Whim Syndrome
Sinusitis, Lymphopenia, Otitis media, Recurrent upper respiratory tract infections, Lymphadenitis... ORPHA:51636
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor excision circle ... OMIM:602450
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ... ORPHA:596
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... OMIM:616005
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia ORPHA:319552
Neutropenia, Severe Congenital, X-Linked
Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Panhypogammaglobulinemia, Recurrent sinusitis... OMIM:615207
Felty Syndrome
Sinusitis, Rhinitis, Splenomegaly, Chronic otitis media, Abnormal lymphocyte morphology, Pericard... ORPHA:47612
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Gastritis, Eczema, Decreased prealbumin level, Pneumonia, Eczematoid dermat... ORPHA:37042
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Chronic hepa... ORPHA:572
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Pyoderma, Enteroviral hepatitis, Panhypogammaglobulinemia, Epididymitis, ... OMIM:307200
Selective Igm Deficiency
Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons... ORPHA:331235
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphocytic interstitial pneumonia, Splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:618495
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Recurrent otitis media, Recurrent sinopulm... ORPHA:244
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... ORPHA:169154
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Eosinophilia, Interstitial pneumonitis, Myocarditis, Cough, He... ORPHA:139402
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Immunodeficiency 58
Asthma, Colitis, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent upper respiratory t... OMIM:618131
Lymphoid Interstitial Pneumonia
Pulmonary venous hypertension, Subpleural interstitial thickening, Multiple pulmonary cysts, Hypo... ORPHA:79128
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Cough, Decreased circulating... ORPHA:169105
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Chronic otitis media, Abnormal neutrophi... ORPHA:3226
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Osteomyelitis, Increased ... ORPHA:443811
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Complete Androgen Insensitivity Syndrome
Blind vagina, Sparse axillary hair, Female external genitalia in individual with 46,XY karyotype,... ORPHA:99429
Autoinflammatory Disease, Systemic, X-Linked
Panuveitis, Osteomyelitis, Optic neuritis, Decreased circulating IgG level, Hepatosplenomegaly, D... OMIM:301081
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... ORPHA:158061
Omenn Syndrome
Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Pneumonia, Erythroderma... ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Otiti... OMIM:613179
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Chronic rhinitis, Rhinorrhea, Wheezing OMIM:617577
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hirsutism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Otitis media, Elevated alpha-fe... ORPHA:420741
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Thrombocytosis, Decreased circulatin... OMIM:226300
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Cough, Pleuritis, Pulmonary arterial hypertension, Bronchiectasi... ORPHA:662
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections, Cough OMIM:619468
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Elevated circulating C-reactive protein concentration, Neutr... OMIM:612852
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Pneumonia, Dyspnea, Bronchogenic cyst, Pulmonary cyst ORPHA:2357
Gaucher Disease, Type Ii
Apnea, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia OMIM:230900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Pulmonary hemorrhage, T lymphocytopeni... ORPHA:79124
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Psoriasis 14, Pustular
Oligoarthritis, Elevated circulating C-reactive protein concentration, Pustule, Neutrophilia, Leu... OMIM:614204
Nocardiosis
Respiratory distress, Keratitis, Lymphadenitis, Pneumonia, Pericarditis, Respiratory failure, Scl... ORPHA:31204
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Q Fever
Respiratory distress, Increased circulating antibody level, Osteomyelitis, Splenomegaly, Maculopa... ORPHA:781
Premature Ovarian Failure 7
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis, Absent pubic hair OMIM:612964
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Immunodeficiency 65, Susceptibility To Viral Infections
Bronchiectasis, Stomatitis OMIM:618648
Brucellosis
Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, Pulmonary granu... ORPHA:1304
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Diarrhea 12, With Microvillus Atrophy
Bronchiectasis, Respiratory tract infection OMIM:619445
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Eosinophilia, Keratoconjunctivitis, Chronic mucocutaneous candidiasis, ... OMIM:158310
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... OMIM:614837
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomega... ORPHA:39812
Immunodeficiency 23
Asthma, Lymphopenia, Eosinophilia, Abscess, Eczema, Membranoproliferative glomerulonephritis, Inc... OMIM:615816
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Abs... OMIM:614841
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgE, Decreased c... OMIM:308230
Timothy Syndrome
Bronchitis, Pneumonia OMIM:601005
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Abnormal lung... ORPHA:54251
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Bronchial Neuroendocrine Tumor
Asthma, Nonproductive cough, Bronchospasm, Abnormal pulmonary interstitial morphology, Wheezing, ... ORPHA:97287
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Myocarditis, Pneumonia, Rhinitis, Prostatitis, Osteomyeli... ORPHA:2552
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Restrictive ven... ORPHA:98897
Familial Mediterranean Fever
Crohn's disease, Orchitis, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-react... OMIM:249100
Thymic Aplasia
Decreased proportion of naive T cells, Recurrent streptococcus pneumoniae infections, Sinusitis, ... ORPHA:83471
Cleft Larynx, Posterior
Aspiration OMIM:215800
Pulmonary Alveolar Microlithiasis
Interlobular septal thickening, Oxygen desaturation on exertion, Increased circulating surfactant... ORPHA:60025
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Elevated circulating C-reactive protein concentration, Neutrophilia, Skin rash, Leukocytosis, Inc... OMIM:617099
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Chronic oral candidiasis, Decreased circulating IgG level, Hemophagocytos... OMIM:301078
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... OMIM:618849
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, D... OMIM:619381
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Sinusitis, Neutropenia, Osteomyelitis, Hypoamylasemia, Skin ra... ORPHA:811
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Bloom Syndrome
Cheilitis, Abnormal proportion of CD8-positive T cells, Rhinitis, Chronic pulmonary obstruction, ... ORPHA:125
Listeriosis
Respiratory distress, Abscess, Myocarditis, Pneumonia, Pericarditis, Respiratory failure, Septic ... ORPHA:533
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Chronic otitis media, Hemolytic anemia, Pneumonia, Thrombocytopenia ORPHA:169090
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Lymphopenia, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Autoimm... OMIM:607944
Coccidioidomycosis
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Osteomyelitis, Peritonitis,... ORPHA:228123
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Leukocyte Adhesion Deficiency
Otitis media, Severe periodontitis, Pneumonia, Osteomyelitis, Peritonitis, Chronic oral candidias... ORPHA:2968
Relapsing Fever
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Co... ORPHA:91547
Letterer-Siwe Disease
Seborrheic dermatitis, Hepatosplenomegaly, Stomatitis, Neutropenia, Dyspnea, Anemia, Thrombocytop... OMIM:246400
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hirsutism, Hypoplasia of the uterus, Thick eyebrow, Facial hirsutism,... ORPHA:247768
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation ORPHA:204
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Apnea, Episodic tachypnea ORPHA:79264
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent upper respiratory tract infections, Autoimmune thrombocytopen... ORPHA:293978
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Increased circulating interleukin 6 concentration, Pancreatitis, Leukocytosis, Ple... ORPHA:544482
Cystic Fibrosis
Reduced forced expiratory volume in one second, Asthma, Recurrent bronchopulmonary infections, Pa... OMIM:219700
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Shigellosis
Splenic abscess, Acute colitis, Leukocytosis, Peritonitis, Abscess, Myocarditis, Arthritis, Uveit... ORPHA:810
Cryptococcosis
Respiratory distress, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Peritonitis,... ORPHA:1546
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Episodic tachypnea, Hypoproteinemia, ... ORPHA:26793
Zygomycosis
Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Rhinorrhea, Pericarditis, Colit... ORPHA:73263
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Respiratory insufficiency, Myositis, Recurrent lower respiratory tract infections, Aspiration, Hy... ORPHA:258
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Pneumonia, Pancytopenia ORPHA:309288
Herpes Simplex Virus Encephalitis
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... ORPHA:1930
Postinfectious Vasculitis
Bacterial endocarditis, Increased circulating antibody level, Recurrent streptococcus pneumoniae ... ORPHA:48435
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia OMIM:617809
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal serum interferon-gamma level, Neutropenia in presence of anti-neutropil antibodies, Lymp... ORPHA:391487
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Iridocyclitis, Hypoxemia, Splenomegaly, Abnormal pulmonary ... OMIM:181000
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis, Central sleep apnea ORPHA:431361
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia, Restrictive ventilatory d... ORPHA:70
Spondyloenchondrodysplasia
Skin rash, Juvenile rheumatoid arthritis, Autoimmune thrombocytopenia, Arthritis, Hepatitis, Pneu... ORPHA:1855
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Aspiration, Respiratory insufficiency due to ... OMIM:606070
Igg4-Related Kidney Disease
Pancreatitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Chronic sinus... ORPHA:449395
Hyperekplexia 1
Apnea, Aspiration OMIM:149400
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma,... OMIM:301220
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hyper-Igd Syndrome
Chronic oral candidiasis, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Increased circulat... OMIM:260920
Vocal Cord And Pharyngeal Distal Myopathy
Aspiration, Respiratory insufficiency due to muscle weakness, Mildly elevated creatine kinase ORPHA:600
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Pulmonary edema, Leukocy... ORPHA:340
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pancreatitis, Neutrophilia, Eczema, Erythroderma, Colitis, Inflammatory abn... ORPHA:3260
Aicardi-Goutieres Syndrome 7
Increased circulating ferritin concentration, Increased circulating antibody level, Skin rash, Sp... OMIM:615846
Tenorio Syndrome
Stomatitis, Apnea, Keratoconjunctivitis sicca, Pneumonia OMIM:616260
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Abnormal T cell subset distribution, Decreased circulating total IgA, D... ORPHA:221139
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Interstitial pneumonitis, Aplastic anemia, Anemia, Thrombocytopenia, Pulmonary fibrosis OMIM:127550
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Insulin-Resistance Syndrome Type B
Increased circulating IgA level, Nephritis, Skin rash, Osteoarthritis, Leukopenia, Increased circ... ORPHA:2298
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia, Mastocytosis ORPHA:2135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Normocytic anemia, Normochromic anemia, Pneumonia ORPHA:247691
Fanconi Anemia, Complementation Group F
Anemia, Thrombocytopenia, Leukopenia, Pneumonia OMIM:603467
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hyp... ORPHA:99104
Esophageal Atresia
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... ORPHA:1199
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Aspiration OMIM:610768
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Mirage Syndrome
Lymphopenia, Aspiration pneumonia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia OMIM:617053
Atrial Septal Defect, Ostium Secundum Type
Airway obstruction, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional dyspnea, P... ORPHA:99103
Tay-Sachs Disease
Aspiration OMIM:272800
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Hydatidiform Mole
Enlarged uterus ORPHA:99927
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Oculopharyngodistal Myopathy 1
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... OMIM:164310
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Elevated circulating creatine kinase concentration, Aspiration OMIM:618733
Chops Syndrome
Sleep apnea, Anomalous pulmonary venous return, Tracheomalacia, Aspiration pneumonia, Splenomegal... OMIM:616368
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Aspiration pneumonia, Cough, Tracheobronchial leiomyomatosis, Dyspnea, Recurrent respi... ORPHA:1018
Gm1 Gangliosidosis
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Infectious encephalitis, Recurrent respir... ORPHA:354
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... ORPHA:90796
Bickerstaff Brainstem Encephalitis
Hypercapnia, Respiratory failure requiring assisted ventilation, Respiratory tract infection, Pne... ORPHA:79138
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Apnea, Hypopnea, Aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation OMIM:619482
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Cholera
Aspiration pneumonia, Hyperventilation, Tachypnea ORPHA:173
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Sarcoidosis
Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology, Abnormal ... ORPHA:797
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Increased red blood cell count, Infectious encephalitis, Pneumonia, Respirato... ORPHA:68
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Keratitis, Inflammatory abnormality of the skin, Skin rash, Chronic lung di... ORPHA:95455
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula OMIM:617466
Leukocyte Adhesion Deficiency Type Ii
Keratitis, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Severe periodontitis, Mic... ORPHA:99843
Mucopolysaccharidosis, Type Vi
Sleep apnea, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory ... OMIM:253200
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Stridor, Aspiration OMIM:614653
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Aspiration OMIM:618922
Japanese Encephalitis
Respiratory distress, Increased circulating antibody level, Pulmonary edema, Irregular respiratio... ORPHA:79139
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pyoderma, Recurrent skin infections, Stridor, Pneumonia, Pneumothorax, Dysp... ORPHA:79404
Crimean-Congo Hemorrhagic Fever
Neutrophilia, Hemothorax, Myocarditis, Thrombocytopenia, Epididymitis, Pancytopenia, Splenomegaly... ORPHA:99827
Neuroleptic Malignant Syndrome
Leukocytosis, Aspiration pneumonia, Elevated circulating creatine kinase concentration, Pulmonary... ORPHA:94093
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Congenital Fiber-Type Disproportion Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration pneumonia, Weakness of muscles of re... ORPHA:2020
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Developmental And Epileptic Encephalopathy 100
Aspiration, Central sleep apnea, Recurrent respiratory infections, Obstructive sleep apnea OMIM:619777
Ogden Syndrome
Apnea, Peripheral pulmonary artery stenosis, Recurrent otitis media, Pulmonary edema, Polycythemi... OMIM:300855
Mucopolysaccharidosis Type 3
Splenomegaly, Aspiration pneumonia, Otitis media, Chronic otitis media, Upper airway obstruction,... ORPHA:581
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Esophagitis, Aspiration, Obstructive sleep apnea ORPHA:96182
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Plague
Respiratory distress, Enterocolitis, Skin rash, Splenomegaly, Lymphadenitis, Endocarditis, Acute ... ORPHA:707
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis, Thrombocytopenia, Splenomegaly OMIM:301072
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Chronic gastritis, Status asthmaticus, Pulmonary ed... OMIM:619991
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Hirsutism, ... ORPHA:90794
Halperin-Birk Syndrome
Aspiration OMIM:618651
Alpha-Mannosidosis, Infantile Form
Hepatosplenomegaly, Otitis media, Pneumonia, Pancytopenia ORPHA:309282
Chromosome 17Q12 Deletion Syndrome
Hypertrichosis, Sparse eyebrow, Ovarian cyst, Unicornuate uterus, Urethral stenosis, Nail dystrop... OMIM:614527
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... ORPHA:284339
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia, Recurrent respiratory inf... ORPHA:397715
Cornelia De Lange Syndrome 1
Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Aspiration ORPHA:2131
Degcags Syndrome
Asthma, Rhinitis, Congenital hypoplastic anemia, Tracheomalacia, Leukopenia, Abnormal spleen morp... OMIM:619488
Marshall-Smith Syndrome
Apnea, Airway obstruction, Aspiration pneumonia, Recurrent upper respiratory tract infections, Re... OMIM:602535
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration ORPHA:404448
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Opitz Gbbb Syndrome
Aspiration OMIM:300000
Tay-Sachs Disease
Aspiration pneumonia, Increased serum beta-hexosaminidase ORPHA:845
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Uterus didelphys, Aplasia of the uterus, Septate vagina ORPHA:2237
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Sparse eyebrow, Bifid uterus, Abnormal reproductive system morphology, Low ... ORPHA:1521
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia OMIM:271520
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Abnormal hair whorl ORPHA:457284
Limb-Mammary Syndrome
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Hypoplastic nipples, Breast... ORPHA:69085
Niemann-Pick Disease Type C
Splenomegaly, Aspiration pneumonia, Hepatosplenomegaly, Respiratory insufficiency, Abnormal lung ... ORPHA:646
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
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
Bilateral Perisylvian Polymicrogyria
Apnea, Aspiration ORPHA:98889
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Elevated alpha-fetoprotein, Recurrent aspirati... ORPHA:280633
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Skin rash, Leukocytosis, Elevate... ORPHA:99829
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Anemia, Hypoventilatio... ORPHA:438213
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia, Stridor, Tracheomalacia ORPHA:2745
Arboleda-Tham Syndrome
Respiratory distress, Chronic otitis media, Recurrent aspiration pneumonia, Recurrent otitis medi... OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Asthma, Otitis media, Pneumonia, Recurrent respiratory infections, Obstructive sleep apnea ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Asthma, Otitis media, Aspiration, Pneumonia, Recurrent respiratory infections, Obstructive sleep ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Asthma, Otitis media, Aspiration, Pneumonia, Recurrent respiratory infections, Obstructive sleep ... ORPHA:353277
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
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Asthma, Apnea, Hepatosplenomegaly, Atopic dermatitis, Chronic otitis media, Hemolytic anemia, Asp... OMIM:619503
Hereditary Sensory And Autonomic Neuropathy Type 4
Osteomyelitis, Abscess, Recurrent aspiration pneumonia, Fasciitis, Tooth abscess, Anemia, Septic ... ORPHA:642
Fanconi Anemia, Complementation Group L
Aplasia of the uterus, Micropenis OMIM:614083
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Recurrent respiratory infections, Pneumonia OMIM:264090
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... ORPHA:322
Coffin-Siris Syndrome 1
Sparse scalp hair, Hypertrichosis, Thick eyebrow, Hypospadias, Dry hair, Facial hypertrichosis, L... OMIM:135900
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Fontaine Progeroid Syndrome
Respiratory insufficiency, Recurrent aspiration pneumonia, Pulmonary hypoplasia, Pneumothorax, Pu... OMIM:612289
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Bifid uterus, Stillbirth, Hypospadias OMIM:236680
Neu-Laxova Syndrome 1
Bifid uterus, Stillbirth, Cryptorchidism, Absent eyelashes OMIM:256520
Doors Syndrome
Aspiration pneumonia, Thrombocytosis, Respiratory distress ORPHA:79500
Cardiac-Urogenital Syndrome
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Ambiguous genitalia, Penoscrotal hypospadia... OMIM:618280
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism, Alopecia of... OMIM:130050
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Aplasia of the uterus, Cryptorchidism, Highly arched eyebrow, Lo... OMIM:194190
Okamoto Syndrome
Bifid uterus, Hypertrichosis, Facial hypertrichosis, Extension of hair growth on temples to later... ORPHA:2729
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... OMIM:276820
Kabuki Syndrome 1
Hemolytic anemia, Recurrent aspiration pneumonia, Autoimmune thrombocytopenia, Recurrent otitis m... OMIM:147920
Pallister-Killian Syndrome
Sparse scalp hair, Labial hypoplasia, Sparse hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Hy... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Abnormality of hair texture, Cystocele, Uterine rupture, Alopecia, Hypospadias,... ORPHA:286
Norrie Disease
Optic atrophy, Cryptorchidism, Uterine rupture ORPHA:649
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pmm2-Cdg
Respiratory distress, Aspiration pneumonia, Impaired neutrophil chemotaxis, Hypoalbuminemia, Redu... ORPHA:79318
Yunis-Varon Syndrome
Aspiration pneumonia, Pulmonary arterial hypertension OMIM:216340

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 Clca1

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 Clca1.

No publications found that use IMPC mice or data for Clca1.

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MGI Allele Allele Type Produced
Clca1em2(IMPC)Mbp Exon Deletion Mice, Tissue

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