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Gene: Clca1 MGI:1346342

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal vibrissa morphology Clca1em2(IMPC)Mbp HOM Early adult 3.92×10-05
hydrometra Clca1em2(IMPC)Mbp HOM Early adult 0.00
small superior vagus ganglion Clca1em2(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Recurrent bronchitis, Chronic furunculosis, Chronic ora... OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... OMIM:247800
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upp... OMIM:618806
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Idiopathic Achalasia
Wheezing, Decreased prealbumin level, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... OMIM:601495
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Lymphopenia, Recurrent respiratory inf... OMIM:300988
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent o... OMIM:615294
Immunodeficiency 13
B lymphocytopenia, Bronchiectasis, T lymphocytopenia, Bronchiolitis obliterans organizing pneumon... OMIM:615518
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia OMIM:608971
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis, Splenomegaly, Recurrent respiratory infections OMIM:226990
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Recurrent br... OMIM:607594
Ciliary Dyskinesia, Primary, 9
Pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Rhinitis, Respiratory insuff... OMIM:608647
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Ciliary Dyskinesia, Primary, 23
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... OMIM:615451
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... OMIM:618254
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurrent respirat... OMIM:613501
Ciliary Dyskinesia, Primary, 15
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Pneumonia, Arthritis, Otitis media, Panhypogammaglobulinemia, T lymphocytopeni... OMIM:601457
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Ciliary Dyskinesia, Primary, 46
Ciliary dyskinesia, Bronchiectasis, Reduced forced expiratory volume in one second, Recurrent oti... OMIM:619436
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia OMIM:615214
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms, Immotile cilia, Recurrent r... OMIM:618801
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Absent cen... OMIM:617091
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Cough, Recurrent respiratory infections, Nas... OMIM:617092
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Ciliary Dyskinesia, Primary, 26
Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Ciliary Dyskinesia, Primary, 27
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615504
Acute Lung Injury
Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased ci... ORPHA:178320
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 14
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613807
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio... ORPHA:723
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Pulmonary Alveolar Proteinosis, Acquired
Brain abscess, Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory... OMIM:610910
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Elevated carcinoembryonic antigen le... ORPHA:264675
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Neutropenia OMIM:616022
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Ciliary Dyskinesia, Primary, 13
Sinusitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Absent outer dynein arms, Ab... OMIM:613193
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... ORPHA:217390
Ciliary Dyskinesia, Primary, 16
Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Absent outer dynein a... OMIM:614017
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, R... OMIM:619220
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Pneumonia, Salmonella osteomyelitis, Anemia, Increased circulating ... OMIM:209950
Ciliary Dyskinesia, Primary, 12
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Abnormal central microtu... OMIM:612650
Immunodeficiency 62
Autoimmune thrombocytopenia, Bronchiectasis OMIM:618459
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Chronic bronchitis, Pneumonia OMIM:614069
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... OMIM:608644
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abnormal pulmonary interstit... ORPHA:2032
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sinusitis, Bronchiolitis, Emp... OMIM:604571
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Slc35A1-Cdg
Hypoxemia, Neutropenia, Pneumonia, Pulmonary hemorrhage, Respiratory distress, Abnormal platelet ... ORPHA:238459
Ciliary Dyskinesia, Primary, 28
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615505
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... OMIM:619466
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased... OMIM:607271
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... OMIM:617514
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Hypoxemia, Pneumonia, Leukopenia, Tachypnea, Pneumothorax, Cough, Pleural empyema, ... ORPHA:36238
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... OMIM:618986
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Bronchiectasis, Chronic rhinit... OMIM:614679
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... OMIM:618108
Ciliary Dyskinesia, Primary, 22
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615444
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis OMIM:279000
Ciliary Dyskinesia, Primary, 19
Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due t... OMIM:614935
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Bronchiectasis, Rhinitis, Chronic otitis media, Chronic sinusitis,... OMIM:618063
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Esophagitis, Upper air... ORPHA:3348
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... ORPHA:90117
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Ovarian Dysgenesis 2
Hirsutism, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogona... OMIM:300510
Asthma, Nasal Polyps, And Aspirin Intolerance
Aspirin-induced asthma, Bronchoconstriction, Nasal polyposis, Asthma OMIM:208550
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anem... ORPHA:229717
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... OMIM:606763
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... ORPHA:169160
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... ORPHA:1164
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Whim Syndrome 1
Neutropenia, Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody leve... OMIM:193670
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis, Reduction of neutrophil motility... OMIM:266265
Trimethylaminuria
Anemia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Aspergillosis
Sinusitis, Neutropenia, Pleuritis, Hepatitis, Eosinophilia, Chronic pulmonary obstruction, Infect... ORPHA:1163
Ciliary Dyskinesia, Primary, 7
Ciliary dyskinesia, Bronchiectasis, Reduced FEV1/FVC ratio, Abnormal ciliary motility, Recurrent ... OMIM:611884
Immunodeficiency 75
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Hepatosp... OMIM:619126
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Eosinophilia, Bronchiectasis, Recurrent otitis media, Chronic mucocuta... OMIM:618282
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Sinusitis, Ciliary dyskinesia, Recurrent bronchiti... OMIM:242680
Cryptogenic Organizing Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Cough, Neutrop... ORPHA:1302
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal blood gas level... ORPHA:70578
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Respiratory insufficiency, Pneumonia ORPHA:97244
Tularemia
Brain abscess, Leukocytosis, Pneumonia, Anemia, Cough, Respiratory distress, Increased circulatin... ORPHA:3392
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Splenomegaly, Uveitis, Decreased circulating total IgM, Panc... OMIM:614700
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci... OMIM:618394
Ciliary Dyskinesia, Primary, 25
Sinusitis, Chronic pulmonary obstruction, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Rec... OMIM:615482
Panbronchiolitis, Diffuse
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Rhonchi, Cough OMIM:604809
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Absent outer dynein arms, ... OMIM:244400
Immunodeficiency 92
Cholangitis, Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cel... OMIM:619652
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM OMIM:610798
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Scedosporiosis
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Pericarditis, Abnormal respiratory syste... ORPHA:449280
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Ciliary Dyskinesia, Primary, 43
Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chronic sinusi... OMIM:618699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Decreased specific anti-polysacchar... OMIM:300853
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Chronic oral candidiasis,... OMIM:150550
Avian Influenza
Hepatitis, Respiratory failure, Elevated circulating C-reactive protein concentration, Conjunctiv... ORPHA:454836
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections ORPHA:70592
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Ciliary Dyskinesia, Primary, 6
Abnormal respiratory motile cilium morphology, Absent/shortened outer dynein arms, Sinusitis, Cil... OMIM:610852
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecific interstitial pn... OMIM:610921
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Abnormal respiratory system physiology, Ciliary dyskinesia, Chronic rhinitis, Absent r... OMIM:242670
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Eosinophilia, Neutropenia, Pneumonia, Monocytosis, Rhinitis, Recurr... ORPHA:486
Immunodeficiency 46
Neutropenia, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating ... OMIM:616740
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Anemia, Sp... OMIM:603554
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... ORPHA:231154
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respiratory failur... ORPHA:70587
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Recurrent upper respiratory tract infections, Autoimmune thrombocy... OMIM:608184
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Eosinophilia, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating Ig... OMIM:618523
Autosomal Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Bronchiectasis, Chronic otitis media, Hepatitis, Arth... ORPHA:33110
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Reduced hematocrit, Hypoxemia, Crackles, Bronchiectasi... ORPHA:79126
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Dyspnea, Recurrent respiratory infections ORPHA:2004
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... ORPHA:276
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Aplasia of the thymus, Recurrent upper respiratory tract infections, Panhypogammaglobu... OMIM:602450
Poikiloderma With Neutropenia
Neutropenia, Elevated circulating creatine kinase concentration, Recurrent otitis media, Splenome... OMIM:604173
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Recurrent resp... OMIM:241600
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating total IgM, Rec... ORPHA:183675
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:240500
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Spars... ORPHA:754
Complement Factor B Deficiency
Pneumonia, Peritonitis OMIM:615561
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Recurrent bronchopul... OMIM:242700
Melioidosis
Brain abscess, Abnormality of the spleen, Splenic abscess, Lung abscess, Pneumonia, Prostatitis, ... ORPHA:31202
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Recurrent upper and lower respira... ORPHA:911
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Chronic otitis media, Chronic ... OMIM:612518
Fusariosis
Sinusitis, Brain abscess, Abnormality of the spleen, Productive cough, Neutropenia, Lung abscess,... ORPHA:228119
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Inc... OMIM:614470
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Decrease... ORPHA:1572
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency 77
Chronic pulmonary obstruction, Cutaneous abscess, Bronchiectasis OMIM:619223
Whim Syndrome
Sinusitis, Neutropenia, Pneumonia, Bronchiectasis, Lymphadenitis, Decreased circulating antibody ... ORPHA:51636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduce... OMIM:242860
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Bronchiectasis, Increased circulating IgA level, Decreased circulating Ig... OMIM:618534
46,Xy Sex Reversal 3
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... OMIM:612965
Premature Ovarian Failure 7
Clitoral hypertrophy, Premature ovarian insufficiency, Absent pubic hair, Gonadal dysgenesis, Hyp... OMIM:612964
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in presence ... OMIM:615952
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Pancytopenia, Decreased circulating IgG level, Fulminant he... OMIM:308240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Restrictive ventilatory defect, Pneumonia OMIM:253700
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Increased circulating myelocyte c... ORPHA:36234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Pneumonia, Decreased circulating IgA level, Reduced red cell adenos... OMIM:102700
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Restrictive ventilatory defect, Pericarditis, Pleuritis, Hepatitis, Ar... ORPHA:829
Immunodeficiency 91 And Hyperinflammation
Elevated circulating C-reactive protein concentration, Monocytosis, Pulmonary hemorrhage, Recurre... OMIM:619644
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent otitis media, Re... OMIM:600802
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Absent microvilli on the surface of peripheral blood lymphocytes, Eczema, Inflammation... OMIM:600903
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Immunodeficiency 36
Chronic lymphatic leukemia, Bronchiectasis, Decreased circulating antibody level, Splenomegaly, L... OMIM:616005
Leydig Cell Hypoplasia
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... ORPHA:755
Immunodeficiency 56
Cholangitis, Bronchiectasis, Recurrent otitis media, Panhypogammaglobulinemia, Recurrent pneumoni... OMIM:615207
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Abnormal serum interleukin level, Pneumonia ORPHA:319552
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Asplenia, Br... ORPHA:244
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Pneumothorax, Pulmonary arterial hypertension, Respiratory dist... ORPHA:70588
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Felty Syndrome
Sinusitis, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media, Rhinitis, Pl... ORPHA:47612
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Abse... OMIM:307200
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Decreased prealbumin level, Tubulointerstitial nephritis, Neutropenia, Neutropenia in pre... ORPHA:37042
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:572
Agammaglobulinemia, X-Linked
Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni... OMIM:300755
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Selective Igm Deficiency
Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decre... ORPHA:331235
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Complete Androgen Insensitivity Syndrome
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... ORPHA:99429
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Subpleural interstitial thickening, Eczema, Wheezing, Hypoxemia, Crac... ORPHA:79128
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Interstitial pneumonitis, Infectious enc... ORPHA:139402
Good Syndrome
Sinusitis, Bronchiectasis, Decreased circulating antibody level, Anemia, Cough, Dyspnea, Recurren... ORPHA:169105
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... OMIM:273250
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Neutropenia, Increased circulating IgA level, Increased circulating IgG level, Recu... ORPHA:169154
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Decreased circulating IgA level, Bronchiolitis, Decreased circulating t... OMIM:614878
Immunodeficiency 58
Eczema, Chronic bronchitis, Allergic rhinitis, Decreased specific antibody response to vaccinatio... OMIM:618131
Pgm3-Cdg
Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... ORPHA:443811
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Atelect... ORPHA:2357
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Macrophage Activation Syndrome
Increased circulating interleukin 6, Neutropenia, Hepatitis, Anemia, Splenomegaly, Increased infl... ORPHA:158061
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Acute leukemia, Chronic otitis media, Splenomegaly, Myeloprolifer... ORPHA:3226
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Testicular dysgenesis, Abnormal vagina morpholog... ORPHA:168563
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia... OMIM:613179
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Rhinorrhea, Bronchiectasis OMIM:617577
Omenn Syndrome
Leukocytosis, Erythroderma, Pneumonia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thyr... ORPHA:39041
X-Linked Agammaglobulinemia
Sinusitis, Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis... ORPHA:47
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoproteinemia, Pneumonia, Iron deficiency anemia, Decreased circulating antibod... OMIM:226300
Yellow Nail Syndrome
Sinusitis, Neoplasm of the lung, Bronchiectasis, Rhinitis, Pleuritis, Pulmonary arterial hyperten... ORPHA:662
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Riddle Syndrome
Restrictive ventilatory defect, Pneumonia, Decreased circulating IgA level, Decreased circulating... ORPHA:420741
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... ORPHA:1916
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Apnea, Anemia, Splenomegaly, Thrombocytopenia OMIM:230900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Anemia, Pulmonary hemorrhage, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Nocardiosis
Brain abscess, Pleuritis, Respiratory failure, Emphysema, Liver abscess, Conjunctivitis, Pericard... ORPHA:31204
Psoriasis 14, Pustular
Cholangitis, Leukocytosis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Neutrophilia, Elevat... OMIM:614204
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Abscess, Osteomyelitis, Splenomegaly, Neutrophilia, Respiratory distress, Sk... OMIM:612852
Q Fever
Myocarditis, Pericarditis, Infectious encephalitis, Pneumonia, Endocarditis, Hepatitis, Anemia, C... ORPHA:781
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... OMIM:614837
Brucellosis
Myocarditis, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism, Elevated circula... ORPHA:1304
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Predominantly dermal neutrophilic infiltrate, Inflammat... ORPHA:3243
Partial Androgen Insensitivity Syndrome
Abnormality of secondary sexual hair, Hypospadias, Aplasia of the uterus, Fused labia majora, Bif... ORPHA:90797
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Fibrocystic lung d... OMIM:158310
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Absent pubic hair, Cryptorchi... OMIM:614841
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Testicular Agenesis
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... ORPHA:325124
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Chronic mucocutaneous cand... OMIM:209920
Immunodeficiency 23
Eczema, Allergic rhinitis, Neutropenia, Eosinophilia, Bronchiectasis, Abscess, Increased circulat... OMIM:615816
Bronchial Neuroendocrine Tumor
Wheezing, Pneumonia, Abnormal pulmonary interstitial morphology, Asthma, Bronchospasm, Nonproduct... ORPHA:97287
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Anemia, Neutrophilia, Abnormal lung morphology, Elevated circulating C-reactive pr... ORPHA:54251
Timothy Syndrome
Pneumonia, Bronchitis OMIM:601005
Microsporidiosis
Myocarditis, Sinusitis, Cholangitis, Brain abscess, Hepatitis, Bronchitis, Infectious encephaliti... ORPHA:2552
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Recurrent aspir... ORPHA:98897
Thymic Aplasia
Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Chronic otiti... ORPHA:83471
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Restrictive ventilatory defect, Increased circulating surfact... ORPHA:60025
Familial Mediterranean Fever
Leukocytosis, Pericarditis, Peritonitis, Pleuritis, Elevated circulating amyloid A, Arthritis, Er... OMIM:249100
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Spermatogenic Failure 15
Aspiration OMIM:616950
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Cleft Larynx, Posterior
Aspiration OMIM:215800
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Bloom Syndrome
Acute lymphoblastic leukemia, Chronic pulmonary obstruction, Abnormal proportion of CD8-positive ... ORPHA:125
Shwachman-Diamond Syndrome
Sinusitis, Chronic neutropenia, Eczema, Macrocytic anemia, Neutropenia, Normocytic anemia, Pneumo... ORPHA:811
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... OMIM:617099
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Cough, Respiratory distress, Intercostal retractions, Reduced forced vital ... ORPHA:91359
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Pneumonia, Recurrent otitis media, Autoimmune thrombocytopenia, Rheumatoid arthritis... OMIM:607944
Listeriosis
Myocarditis, Brain abscess, Septic arthritis, Respiratory failure, Granulomatosis, Liver abscess,... ORPHA:533
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Chronic otitis media, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia,... OMIM:618849
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency OMIM:612310
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total IgM, Elevated ci... OMIM:619381
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Hirsutism, Frontal balding, Hypoplasia of t... ORPHA:247768
Premature Ovarian Failure 18
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619203
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Conjunctivitis, Leukocytosis, Polycythemia, Vaginitis, ... ORPHA:2968
Coccidioidomycosis
Pleural empyema, Eosinophilia, Morbilliform rash, Pericarditis, Folliculitis, Osteomyelitis, Skin... ORPHA:228123
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Brain abscess, Leukocytosis, Increased circulating interleukin 6, Pneumonia, Acute c... ORPHA:544482
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Abnormal l... ORPHA:293978
Perrault Syndrome 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Cystic Fibrosis
Reduced forced expiratory volume in one second, Bronchiectasis, Decreased forced expiratory flow ... OMIM:219700
Letterer-Siwe Disease
Neutropenia, Stomatitis, Seborrheic dermatitis, Anemia, Hepatosplenomegaly, Thrombocytopenia, Dys... OMIM:246400
Relapsing Fever
Leukocytosis, Leukopenia, Epistaxis, Anemia, Cough, Neutrophilia, Thrombocytopenia, Elevated circ... ORPHA:91547
Shigellosis
Myocarditis, Leukocytosis, Splenic abscess, Pneumonia, Peritonitis, Microangiopathic hemolytic an... ORPHA:810
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:619665
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Satoyoshi Syndrome
Abnormality of the ovary, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the u... ORPHA:3130
Cryptococcosis
Pneumonia, Prostatitis, Peritonitis, Lymphoid leukemia, Cough, Osteomyelitis, Respiratory distres... ORPHA:1546
Zygomycosis
Sinusitis, Myocarditis, Brain abscess, Neutropenia, Fasciitis, Hepatitis, Gastritis, Pericarditis... ORPHA:73263
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Highly elevated creatine kinase, Intercostal muscle weakness, Respiratory insufficiency, Myositis... ORPHA:258
Amyotrophic Lateral Sclerosis 21
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:606070
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Increased circulating Ig... ORPHA:48435
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Hypoproteinemia, Pneumonia, Elevated circulating creatine k... ORPHA:26793
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia ORPHA:216866
Sarcoidosis, Susceptibility To, 1
Restrictive ventilatory defect, Hypoxemia, Inflammation of the large intestine, Bronchiectasis, P... OMIM:181000
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Pneumonia ORPHA:309288
Herpes Simplex Virus Encephalitis
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Respiratory fa... ORPHA:1930
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia, Central sleep apnea ORPHA:431361
Spondyloenchondrodysplasia
Pancytopenia, Pneumonia, Hepatitis, Arthritis, Autoimmune thrombocytopenia, Juvenile rheumatoid a... ORPHA:1855
Geleophysic Dysplasia 3
Respiratory failure, Dyspnea, Sleep apnea, Pneumonia OMIM:617809
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, B lymphocytopenia, Eczema, Infectious encephalitis, Bronchi... ORPHA:391487
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Bloom Syndrome
Bronchiectasis, Leukemia, Decreased circulating IgA level, Decreased circulating IgG level, Malar... OMIM:210900
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Pleuritis, Abnormal lung morphology, Eosinophilia, Elevated circula... ORPHA:449395
Ataxia-Telangiectasia
Sinusitis, Recurrent bronchitis, Leukemia, Bronchiectasis, Hypoplasia of the thymus, Decreased ci... OMIM:208900
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Respi... ORPHA:70
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Increased circulating interleukin 8, Recurrent pneumonia, Reduced circulating int... OMIM:301220
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Hyper-Igd Syndrome
Leukocytosis, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis... OMIM:260920
Mercury Poisoning
Respiratory failure, Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Tenorio Syndrome
Keratoconjunctivitis sicca, Apnea, Pneumonia, Stomatitis OMIM:616260
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Increased circulating interleukin 6, Tubulointerstitial nephritis, Pneumonia, Epist... ORPHA:340
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Mildly elevated creatine kinase, Aspiration ORPHA:600
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Eczema, Splenomegaly, Hepatosplenomegaly, Pulmonary embolism, Eosinophilia, Inflamma... ORPHA:3260
Congenital Multicore Myopathy With External Ophthalmoplegia
Respiratory failure, Recurrent respiratory infections, Abnormal respiratory system physiology, Pn... ORPHA:98905
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Psoriasiform dermatitis, B lymphocytopenia, Neonatal respiratory distress, Recurrent aspiration p... ORPHA:221139
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... ORPHA:90793
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina OMIM:146255
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Chops Syndrome
Chronic lung disease, Aspiration pneumonia OMIM:616368
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Anemia, Lymphopenia, Pulmonary fibrosis, Thrombocytopenia, Aplastic anemia OMIM:127550
Insulin-Resistance Syndrome Type B
Leukopenia, Pneumonia, Increased circulating IgA level, Nephritis, Increased circulating IgG leve... ORPHA:2298
Nijmegen Breakage Syndrome
Sinusitis, B lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Dysgammaglobulinemia, Otitis ... OMIM:251260
Hennekam-Beemer Syndrome
Mastocytosis, Respiratory insufficiency, Pneumonia ORPHA:2135
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Normocytic anemia, Skin rash, Pneumonia ORPHA:247691
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Pulmonary arterial hypertension, Exertional dyspnea, Anomalous pulmonary venous return... ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Pulmonary arterial hypertension, Breathing dysregulation, Exertional dyspnea, Orthopne... ORPHA:99103
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia ORPHA:79243
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Leukopenia, Anemia, Pneumonia OMIM:603467
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Mirage Syndrome
Leukopenia, Anemia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia, Aspiration pneumonia OMIM:617053
Esophageal Atresia
Chronic pulmonary obstruction, Episodic respiratory distress, Laryngotracheomalacia, Esophagitis,... ORPHA:1199
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Tay-Sachs Disease
Aspiration OMIM:272800
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Keratitis, Tracheobronchial leiomyomatosis, Dyspnea, Recurrent respiratory infections, Asp... ORPHA:1018
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Bifid uterus OMIM:617466
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Hypercapnia, Respiratory insufficiency due to... OMIM:164310
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Sparse pubic hair, Ambiguous genitalia... ORPHA:90796
Gm1 Gangliosidosis
Infectious encephalitis, Splenomegaly, Hepatosplenomegaly, Recurrent respiratory infections, Aspi... ORPHA:354
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Respiratory distress, Aspiration OMIM:618733
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypopnea, Apnea, Hypoventilation, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Bickerstaff Brainstem Encephalitis
Pneumonia, Hypercapnia, Respiratory tract infection, Respiratory failure, Dyspnea, Respiratory fa... ORPHA:79138
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:168558
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Infectious encephalitis, Pustule, Pneumonia, Increased red blood cell count, Respirato... ORPHA:68
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... ORPHA:289548
Cholera
Tachypnea, Hyperventilation, Aspiration pneumonia ORPHA:173
Sarcoidosis
Tubulointerstitial nephritis, Parotitis, Uveitis, Maculopapular exanthema, Abnormal lung morpholo... ORPHA:797
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Neutropenia, Pneumonia, Rhiniti... ORPHA:95455
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Woodhouse-Sakati Syndrome
Fine hair, Hypogonadotropic hypogonadism, Alopecia, Hypoplasia of the fallopian tube, Micropenis,... OMIM:241080
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Leukocyte Adhesion Deficiency Type Ii
Leukocytosis, Abnormal isohemagglutinin level, Recurrent otitis media, Anemia, Keratitis, Neutrop... ORPHA:99843
Severe Generalized Junctional Epidermolysis Bullosa
Stridor, Pyoderma, Pneumonia, Pneumothorax, Anemia, Respiratory distress, Recurrent skin infectio... ORPHA:79404
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... OMIM:202010
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Pulmonary edema, Recurrent pneumonia... ORPHA:980
Japanese Encephalitis
Infectious encephalitis, Abnormal pattern of respiration, Respiratory paralysis, Neutrophilia, In... ORPHA:79139
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress OMIM:618922
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Elevated circulating creatine kinase concentration, Pulmonary embol... ORPHA:94093
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Opitz Gbbb Syndrome, Type I
Aspiration OMIM:300000
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Crimean-Congo Hemorrhagic Fever
Myocarditis, Parotitis, Splenomegaly, Acute pancreatitis, Pancytopenia, Diffuse alveolar hemorrha... ORPHA:99827
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to muscle weak... ORPHA:2020
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Hirsutism, Frontal bald... ORPHA:90794
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Oeis Complex
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... OMIM:258040
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Mucopolysaccharidosis Type 3
Obstructive sleep apnea, Chronic otitis media, Recurrent sinopulmonary infections, Splenomegaly, ... ORPHA:581
Plague
Inflammation of the large intestine, Endocarditis, Lymphadenitis, Chapped lip, Arthritis, Splenom... ORPHA:707
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Esophagitis, Obstructive sleep apnea ORPHA:96182
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal ... ORPHA:284339
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Aplasia of the uterus, Hypertrichosis, Urethral stenosis, Aplasia of the v... OMIM:614527
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... OMIM:119500
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Hepatosplenomegaly, Otitis media, Pneumonia ORPHA:309282
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Tachypnea, Apnea, Chronic lung disease, Recurrent respiratory inf... ORPHA:397715
Cornelia De Lange Syndrome 1
Thrombocytopenia, Otitis media, Pneumonia OMIM:122470
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low posterior hairline, Su... ORPHA:1521
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia ORPHA:79255
Degcags Syndrome
Leukopenia, Pneumonia, Rhinitis, Iron deficiency anemia, Congenital hypoplastic anemia, Pulmonary... OMIM:619488
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys ORPHA:2237
Halperin-Birk Syndrome
Aspiration OMIM:618651
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia ORPHA:845
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina OMIM:271520
Marshall-Smith Syndrome
Apnea, Recurrent aspiration pneumonia, Obstructive sleep apnea, Pulmonary arterial hypertension OMIM:602535
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... ORPHA:94095
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Aplasia of the vagina, Abnormal hair whorl ORPHA:457284
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Limb-Mammary Syndrome
Aplasia of the uterus, Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ovary, Bilat... ORPHA:69085
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration ORPHA:404448
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Keratoconjunctivitis sicca, Wheezing, Urinary bladder inflammation, Bro... ORPHA:99921
Opitz Gbbb Syndrome, Type Ii
Aspiration, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:145410
Niemann-Pick Disease Type C
Respiratory insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Abnormal lun... ORPHA:646
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism OMIM:618280
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Pulmonary arterial hypertension, Asthma, Sleep apnea, Chronic lung disease, Tracheomalacia, Aspir... ORPHA:444077
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Pulmonary arterial hyperten... ORPHA:280633
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Yellow Fever
Leukocytosis, Increased circulating interleukin 6, Elevated circulating creatine kinase concentra... ORPHA:99829
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Obstructive sleep apnea, Pneumonia, Otitis media, Asthma, Recurrent respiratory infections ORPHA:353281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Obstructive sleep apnea, Apnea, Breathing dysregulation, Anemia, Central sleep apnea, Hypoventila... ORPHA:438213
Semilobar Holoprosencephaly
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Chronic lung disease, Central apnea, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Obstructive sleep apnea, Pneumonia, Aspiration, Otitis media, Asthma, Recurrent respiratory infec... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Obstructive sleep apnea, Pneumonia, Aspiration, Otitis media, Asthma, Recurrent respiratory infec... ORPHA:353277
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Abscess, Fasciitis, Anemia, Septic arthritis, Osteomyelitis, Toot... ORPHA:642
Opitz Gbbb Syndrome
Tracheomalacia, Stridor, Recurrent aspiration pneumonia ORPHA:2745
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Neonatal respiratory distress, Chronic otitis media, Recurrent otitis media, A... OMIM:619503
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... ORPHA:322
Coffin-Siris Syndrome 1
Hypospadias, Aplasia of the uterus, Hypertrichosis, Dry hair, Lumbosacral hirsutism, Facial hyper... OMIM:135900
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Rubinstein-Taybi Syndrome 1
Hypospadias, Highly arched eyebrow, Aganglionic megacolon, Hirsutism, Bifid uterus, Low anterior ... OMIM:180849
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Respiratory insufficiency, Pneumothorax, Pulmonary arterial hyper... OMIM:612289
Doors Syndrome
Thrombocytosis, Respiratory distress, Aspiration pneumonia ORPHA:79500
Townes-Brocks Syndrome 1
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Alopecia of scalp, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorc... OMIM:130050
Okamoto Syndrome
Bifid uterus, Facial hypertrichosis, Hypertrichosis, Extension of hair growth on temples to later... ORPHA:2729
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Wolf-Hirschhorn Syndrome
Hypospadias, Highly arched eyebrow, Aplasia of the uterus, Low posterior hairline, Cryptorchidism... OMIM:194190
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Absent eyelashes OMIM:256520
Hydrolethalus Syndrome 1
Hypospadias, Abnormal vagina morphology, Bifid uterus OMIM:236680
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Aplasia of the uterus, Hypoplastic nipples, Cryptorchidism, Anteriorly displaced gen... OMIM:276820
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent otitis media, Recurrent aspiration pneum... OMIM:147920
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Alopecia, Abnormality of hair texture, Uterine prolapse, Cryptorchi... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Optic atrophy, Uterine rupture, Cryptorchidism ORPHA:649
Pallister-Killian Syndrome
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Sparse eyelashes, Small scrotum, Al... OMIM:601803
Pmm2-Cdg
Pericarditis, Reduced thyroxin-binding globulin, Respiratory distress, Hypoalbuminemia, Impaired ... ORPHA:79318
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia 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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