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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
small superior vagus ganglion Clca1em2(IMPC)Mbp HOM Early adult 0.00
abnormal vibrissa morphology Clca1em2(IMPC)Mbp HOM Early adult 3.16×10-05
hydrometra 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

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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 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu... OMIM:617585
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Cough, Absent outer dynein arms, Bronchiectasis, Decrea... OMIM:612444
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Idiopathic Achalasia
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia ORPHA:930
Immunodeficiency 50
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp... OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... OMIM:269840
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... OMIM:608971
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent pneumonia, Recurrent upper respiratory tract infections, ... OMIM:615518
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas... OMIM:612649
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:613808
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
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
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch... OMIM:613490
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni... OMIM:613807
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... OMIM:616037
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ... OMIM:618459
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi... OMIM:608647
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... ORPHA:264675
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusiti... OMIM:604571
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect... OMIM:611884
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... OMIM:300400
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu... ORPHA:178320
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu... OMIM:615214
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas... ORPHA:217390
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... OMIM:614935
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Idiopathic Pulmonary Fibrosis
Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f... ORPHA:2032
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of... OMIM:619281
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P... OMIM:301082
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Ab... OMIM:618063
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti... OMIM:618986
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... ORPHA:36238
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Asthma, Nasal Polyps, And Aspirin Intolerance
Asthma, Nasal polyposis, Aspirin-induced asthma, Bronchoconstriction OMIM:208550
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H... ORPHA:169160
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:620197
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... OMIM:619126
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Aspergillosis
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... ORPHA:1163
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... ORPHA:1302
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le... ORPHA:3392
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increas... ORPHA:397596
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... OMIM:620282
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurrent upper respiratory ... OMIM:619752
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Hypoxemia, Abnormal circul... ORPHA:70578
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... OMIM:614700
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immo... OMIM:244400
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia OMIM:610798
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... OMIM:612387
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor... OMIM:619652
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Lung abscess, Decreased specific antibody resp... OMIM:241600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Scedosporiosis
Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br... ORPHA:449280
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Neutropenia, Decreased circulating ... OMIM:616740
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections ORPHA:70592
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... OMIM:620321
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De... OMIM:614069
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate... ORPHA:79126
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent... OMIM:240500
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Abnormally low T cell receptor excision circle level, Decrea... ORPHA:276
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Ciliary Dyskinesia, Primary, 10
Chronic sinusitis, Recurrent sinusitis, Chronic otitis media, Ciliary dyskinesia, Abnormal respir... OMIM:612518
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased cir... OMIM:601495
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... OMIM:308240
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp... OMIM:614868
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... OMIM:615952
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic... OMIM:242860
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Lymphopenia, Decreased circulat... OMIM:102700
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Elevated circula... OMIM:619644
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen... ORPHA:36234
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Myo... ORPHA:829
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism OMIM:300510
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ... OMIM:616005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Hy... ORPHA:37042
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent pharyngitis, T... ORPHA:47612
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,... OMIM:307200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia... ORPHA:572
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Thyroiditis, Tubulointe... ORPHA:139402
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... ORPHA:2357
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Sparse axillary hair, Testicular neoplasm, Sparse pubic hair,... ORPHA:99429
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Immunodeficiency 58
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti... OMIM:618131
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... OMIM:616433
Premature Ovarian Failure 7
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy, Absent pubic hair OMIM:612964
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ... ORPHA:158061
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Omenn Syndrome
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocy... ORPHA:39041
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Riddle Syndrome
Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concentration, Neonatal asphyxia, R... ORPHA:420741
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Cheilitis, Bronchiectasis, Absent isohemagglutinin level, R... OMIM:615468
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive pro... OMIM:612852
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration OMIM:253700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno... ORPHA:79124
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia OMIM:618253
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnormal pulmonary interstitial... OMIM:620233
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr... ORPHA:1304
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop... OMIM:614841
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... OMIM:615816
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Atypical or p... ORPHA:83471
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... ORPHA:2552
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Cleft Larynx, Posterior
Aspiration OMIM:215800
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... OMIM:619381
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Bronc... ORPHA:125
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:617099
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Bronchiectasis, Productive cough OMIM:615434
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Sinusitis, Skin rash, Pneumonia, Ec... ORPHA:811
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken... ORPHA:60025
Listeriosis
Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ... ORPHA:533
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Hypoplasia of the uterus, Facial hirsutism, High anter... ORPHA:247768
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Chronic otitis media, Thrombocytopenia ORPHA:169090
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv... OMIM:607944
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis OMIM:601005
Relapsing Fever
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thrombocytopenia,... ORPHA:91547
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... ORPHA:228123
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Cystic Fibrosis
Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R... OMIM:219700
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Pneumonia, Re... ORPHA:544482
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... ORPHA:2968
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Shigellosis
Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative... ORPHA:810
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Elevat... ORPHA:26793
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly ORPHA:309288
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto... ORPHA:391487
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia, Elevated circulat... ORPHA:1930
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumo... OMIM:230900
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Iridocyclitis, Dyspnea, Splenomegaly, Bronchiectasis, Uveitis, Abnormal pulmonary i... OMIM:181000
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Elevated circulating creatine kinas... OMIM:606070
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Hep... ORPHA:1855
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ... OMIM:127550
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Cough, Neutrophilia, Leukocytosis... ORPHA:3260
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Mildly elevated creatine kinase ORPHA:600
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Increased c... OMIM:615846
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyng... ORPHA:293978
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Glomerulonephritis, Pneu... ORPHA:340
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Abnormal T cell subset distribution, Decr... ORPHA:221139
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Absent pubic... ORPHA:90793
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus OMIM:146255
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress... ORPHA:1199
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Inflammatory abnormality of the skin OMIM:610768
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Skin rash, Pneumonia ORPHA:247691
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P... ORPHA:99104
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Pneumonia, Anemia OMIM:603467
Tay-Sachs Disease
Aspiration OMIM:272800
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Increased circulating IgG ... ORPHA:2298
Mirage Syndrome
Thrombocytopenia, Leukopenia, Aspiration pneumonia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Oculopharyngodistal Myopathy 1
Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Reduced fo... OMIM:164310
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Elevated circulating creatine kinase concentration OMIM:618733
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Cystic Fibrosis
Recurrent respiratory infections, Nasal polyposis, Sinusitis, Reduced forced expiratory volume in... ORPHA:586
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism,... ORPHA:90796
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... ORPHA:354
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Chops Syndrome
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... OMIM:616368
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... ORPHA:95455
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, Infectious encephalitis, I... ORPHA:68
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Microcytic anemia, Keratitis, Leukocytosis, Recurrent pneumon... ORPHA:99843
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress OMIM:618922
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin... ORPHA:79404
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosis, Aspiration ... ORPHA:94093
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Mucopolysaccharidosis, Type Vi
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... OMIM:253200
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... ORPHA:99827
Ogden Syndrome
Apnea, Eczema, Thrombocytopenia, Pulmonary artery stenosis, Pulmonary arterial hypertension, Rest... OMIM:300855
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Ente... ORPHA:707
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Halperin-Birk Syndrome
Aspiration OMIM:618651
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly ORPHA:309282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Frontal balding, ... ORPHA:90794
Developmental And Epileptic Encephalopathy 100
Aspiration, Recurrent respiratory infections OMIM:619777
Gm1 Gangliosidosis Type 1
Aspiration pneumonia, Hepatosplenomegaly ORPHA:79255
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Upper airway obstr... ORPHA:581
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Liver Disease, Severe Congenital
Chronic gastritis, Pneumonia, Eczema, Elevated circulating alpha-fetoprotein concentration, Incre... OMIM:619991
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration, Esophagitis ORPHA:96182
Cornelia De Lange Syndrome 1
Thrombocytopenia, Pneumonia, Otitis media OMIM:122470
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... OMIM:602535
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Opitz Gbbb Syndrome
Aspiration OMIM:300000
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Sparse eyebrow, Abnormal reproductive system morphology, Low ... ORPHA:1521
Degcags Syndrome
Pancytopenia, Pneumonia, Congenital hypoplastic anemia, Asthma, Hepatosplenomegaly, Anemia, Leuko... OMIM:619488
Chromosome 17Q12 Deletion Syndrome
Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ... OMIM:614527
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Meckel Syndrome 14
Ambiguous genitalia, Aplasia of the uterus OMIM:619879
Niemann-Pick Disease Type C
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... ORPHA:646
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Yellow Fever
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... ORPHA:99829
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Neonatal respiratory distress, Apnea, Asthma, Atopic dermatitis, Hepatosplenome... OMIM:619503
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Asthma, Otitis media, Aspiration ORPHA:353277
Coffin-Siris Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Asthma, Pneumonia, Otitis media ORPHA:353281
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus OMIM:614083
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypoplasia of the thymus, Pneumonia OMIM:264090
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Lumbosacral hirsu... OMIM:135900
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Septic arthritis, Recurrent aspiration pneumonia, Tooth absces... ORPHA:642
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus OMIM:274000
Doors Syndrome
Respiratory distress, Thrombocytosis, Aspiration pneumonia ORPHA:79500
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Alopecia of... OMIM:130050
Wolf-Hirschhorn Syndrome
Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Low posterior hairline, A... OMIM:194190
Okamoto Syndrome
Facial hypertrichosis, Bifid uterus, Extension of hair growth on temples to lateral eyebrow, Hype... ORPHA:2729
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Neu-Laxova Syndrome 1
Absent eyelashes, Cryptorchidism, Bifid uterus OMIM:256520
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus OMIM:236680
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... ORPHA:286
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Norrie Disease
Cryptorchidism, Optic atrophy, Uterine rupture ORPHA:649
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Hypospadias, Supernumerary nipple, ... OMIM:601803
Pmm2-Cdg
Respiratory distress, Pericarditis, Reduced thyroxin-binding globulin, Hypoalbuminemia, Aspiratio... 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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