Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chemokine-like receptor 1
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cmklr1 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 Cmklr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p... OMIM:312863
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Immunodeficiency 51
Folliculitis, Recurrent bronchitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia, Eczema, Recurrent respiratory inf... OMIM:300988
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis... OMIM:601495
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent respirat... OMIM:613501
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia OMIM:615214
Agammaglobulinemia 4, Autosomal Recessive
Chronic sinusitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, ... OMIM:613502
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia, Asthma OMIM:617638
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Pulmonary infiltrates OMIM:235900
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Panhypogammaglobulinemia, Pneumonia, Conjunctivitis, B lymp... OMIM:601457
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally lo... OMIM:618806
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Decreased circulating antibody level, Pneumonia, Anteverted nares, Chronic bronchitis... OMIM:614069
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:619220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Pneumonia, Splenomegaly, Eczema, Otitis media OMIM:608971
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Pulmonary infiltrates, Increased inflammatory re... OMIM:209950
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin i... ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ... OMIM:618986
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Decreased circulating... OMIM:616576
Congenital Disorder Of Glycosylation, Type Iic
Bulbous nose, Bronchiolitis, Recurrent otitis media, Periodontitis, Pneumonia, Reduction of neutr... OMIM:266265
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Interstitial pneumonitis, Exertional dyspnea, Parenchymal cons... ORPHA:723
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Whim Syndrome 1
Bronchiectasis, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 32B
Bronchiectasis, Pneumonia, Splenomegaly, Sinusitis, Recurrent respiratory infections OMIM:226990
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Skin rash, Partial absence of specific an... OMIM:618108
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:608184
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Pulmonary fibrosis, Decreased circulating... OMIM:618394
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, P... ORPHA:3392
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Neutropenia OMIM:616022
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Bronchiectasis, Decreased specific anti-polysa... OMIM:300853
Mounier-Kühn Syndrome
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... ORPHA:3347
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Pachygyria, Wide nasal bridge, Polymicrogyria, Aspiration pneumonia, Depressed nasal bridge OMIM:609528
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Neutropenia, Pneumonia, Abnormal tracheobronchial morphology, S... ORPHA:1163
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol... OMIM:618781
Immunodeficiency 13
T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Lymphopenia, Dec... OMIM:615518
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia... OMIM:612444
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Decreased specific antibody response to vaccination, Pneumonia, Panc... OMIM:614700
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Recurrent respi... ORPHA:229717
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Abnormal natural killer cell phys... OMIM:613101
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Decreased pulmonary fu... ORPHA:60033
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona... OMIM:615294
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Emphysema, Pyoderma, R... OMIM:242700
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Decreased circulating ... OMIM:300635
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent otitis media, Immotile sperm, Rec... OMIM:618449
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Atelecta... OMIM:616726
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough... OMIM:615451
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Pleural empyema, Pulmonary pneu... ORPHA:36238
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Slc35A1-Cdg
Pulmonary hemorrhage, Respiratory distress, Neutropenia, Pneumonia, Thrombocytopenia, Giant plate... ORPHA:238459
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Abnormal macrophage morphology, Acute mye... ORPHA:2585
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Wheezing, Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis,... OMIM:613807
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615504
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Ecz... OMIM:618282
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Short nose, Bronchiectasis, Pneumonia, Reduce... OMIM:242860
Ciliary Dyskinesia, Primary, 11
Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:612649
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Young Syndrome
Recurrent bronchitis, Congenital cystic adenomatoid malformation of the lung, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Recurrent respiratory ... OMIM:619126
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Keratitis, Eczema, Recur... OMIM:618523
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Pn... OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Chronic oral candidiasis, Decreased proportion of CD3-positive T cells, Decreased prop... ORPHA:276
Ciliary Dyskinesia, Primary, 26
Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sin... OMIM:615500
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Immunodeficiency 62
Bronchiectasis, Autoimmune thrombocytopenia OMIM:618459
Ciliary Dyskinesia, Primary, 15
Chronic sinusitis, Wheezing, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Abnormal... OMIM:613808
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Cough, Rhinorrhea, Chronic lung disease, Recurrent lower ... OMIM:618254
Ciliary Dyskinesia, Primary, 5
Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Recurrent ... OMIM:608647
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia ORPHA:70592
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Recurrent sinopulmonar... ORPHA:486
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Recurrent respir... OMIM:615505
Ciliary Dyskinesia, Primary, 34
Reduced respiratory ciliary beating frequency, Recurrent bronchitis, Bronchiectasis, Recurrent si... OMIM:617091
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections,... OMIM:613179
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Chronic otitis media, Neutropenia, Recurrent respiratory infect... ORPHA:33110
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Absent outer dyn... OMIM:615067
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmun... ORPHA:1572
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis, Diverticulosis of trachea OMIM:275300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Ciliary Dyskinesia, Primary, 12
Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis, Recurren... OMIM:612650
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Recurrent upp... OMIM:615952
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
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Cd8 Deficiency, Familial
Recurrent respiratory infections, Absence of CD8-positive T cells, Bronchiectasis OMIM:608957
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Ciliary Dyskinesia, Primary, 3
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira... OMIM:608644
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sin... OMIM:615444
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sp... OMIM:616005
Ciliary Dyskinesia, Primary, 36, X-Linked
Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent respiratory ... OMIM:300991
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Ciliary Dyskinesia, Primary, 19
Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sin... OMIM:614935
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Ciliary Dyskinesia, Primary, 32
Bronchiectasis, Ciliary dyskinesia, Neonatal respiratory distress, Immotile cilia, Recurrent resp... OMIM:616481
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Mastocytosis, Splenomegaly ORPHA:98848
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Refractory Anemia
Erythroid hypoplasia, Dyspnea, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic ane... ORPHA:98826
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic... OMIM:613470
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Absent inner and outer dynein arms, Immotile cilia, Chronic rhinitis, Recurrent r... OMIM:618801
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Skin rash, Chronic hepatitis due to cryptosporidium in... ORPHA:572
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Thrombocytopenia, Hypoplasia of the thymus, B ... OMIM:603554
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to vaccination, Chronic s... ORPHA:331235
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Ulcerative colitis, Decreased circulating IgA level, Dec... OMIM:614878
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ... OMIM:614017
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic otitis media, Nasal polyp... OMIM:604571
Ciliary Dyskinesia, Primary, 30
Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Cough, Absent outer dynein arms, Nasa... OMIM:616037
Good Syndrome
Dyspnea, Bronchiectasis, Decreased circulating antibody level, Cough, Thrombocytopenia, Anemia, S... ORPHA:169105
Ciliary Dyskinesia, Primary, 25
Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Immotile ... OMIM:615482
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Avian Influenza
Cough, Pneumonia, Leukopenia, Ground-glass opacification, Respiratory distress, Thrombocytopenia,... ORPHA:454836
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Splenic abscess, Acute... ORPHA:31202
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Pyoderma, Pneumonia, Septic arthritis, Enteroviral hepatitis, Conjunct... OMIM:300755
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Re... OMIM:611884
Ciliary Dyskinesia, Primary, 13
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, Absent outer ... OMIM:613193
Ciliary Dyskinesia, Primary, 1
Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Chronic otitis media, Pneumonia, Sinusitis, ... OMIM:244400
Ciliary Dyskinesia, Primary, 35
Bronchiectasis, Cough, Nasal polyposis, Chronic rhinitis, Chronic sinusitis, Recurrent respirator... OMIM:617092
Ciliary Dyskinesia, Primary, 24
Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis OMIM:615481
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Immunodeficiency 56
Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni... OMIM:615207
Felty Syndrome
Recurrent pneumonia, Pleuritis, Pericarditis, Pulmonary fibrosis, Abnormal lymphocyte morphology,... ORPHA:47612
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Bronchiectasis OMIM:241600
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Chronic pulmonary obstr... OMIM:618131
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent upper respiratory tract infections, Viral hepatitis, Panhypogammaglob... OMIM:209920
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent otitis media, Pyoderma, Pneumonia, Septic arthritis, Panhypo... OMIM:307200
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Abnormal lung morphology, Chronic otitis media, Neutropenia, Thro... ORPHA:47
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Cough, Chronic otitis media, Absent inner and outer dynein arms, Neonatal respira... OMIM:618063
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Chronic otitis media, Recurrent respiratory infections, Thrombocytopenia, Bone marr... ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Alpha-Thalassemia-Myelodysplastic Syndrome
Dyspnea, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute le... ORPHA:231401
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Congenital laryngeal stridor, Bronchiectasis ORPHA:2375
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Pneumonia, Myocarditis, Sinusitis, Myositis, Osteomyelitis, Respiratory d... ORPHA:36234
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Recurrent... OMIM:604173
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat... OMIM:618699
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat... OMIM:614679
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Pneumonia, Anemia, Splen... ORPHA:39041
Neonatal Alloimmune Neutropenia
Pneumonia, Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Recurrent upper respiratory tract infections, Pneumonia, Anteverted nares, Wide nose OMIM:300209
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Pericarditis, Leukocytosis, Bone marrow hyp... ORPHA:829
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Immunodeficiency 23
Allergic rhinitis, Hemolytic anemia, Increased circulating IgM level, Bronchiectasis, Increased c... OMIM:615816
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent inner and outer... OMIM:606763
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Erythro... ORPHA:139402
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Increased proportion of C... OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Pneumonia, Pulmonar... OMIM:226300
Q Fever
Endocarditis, Pericarditis, Respiratory distress, Cholecystitis, Cough, Pleural effusion, Granulo... ORPHA:781
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Decreased circulating to... ORPHA:420741
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmonary edema,... ORPHA:70578
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Abnormal sperm motility, Chronic sinusitis, Anomalous ... ORPHA:244
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Pneumothorax, Neonatal asphyxia, Aspiration pneumoni... ORPHA:70588
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Decreased proportion of memory B cells, Pulmonary fibros... ORPHA:79124
Brucellosis
Pericarditis, Pneumonia, Increased circulating IgG level, Anemia, Hypersplenism, Leukopenia, Ante... ORPHA:1304
Graft Versus Host Disease
Acute hepatitis, Hemophagocytosis, Gastrointestinal inflammation, Inflammatory abnormality of the... ORPHA:39812
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Panbronchiolitis, Diffuse
Wheezing, Bronchiectasis, Cough, Crackles, Hypoxemia, Rhonchi OMIM:604809
Gaucher Disease, Type Ii
Apnea, Thrombocytopenia, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Shwachman-Diamond Syndrome
Skin rash, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, P... ORPHA:811
Felty Syndrome
Rheumatoid arthritis, Neutropenia, Splenomegaly OMIM:134750
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Pneumonia, Lymphocytic interstitial pneumonia, Sinusitis, Abnormalit... ORPHA:2968
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia, Epistaxis OMIM:616216
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Autoimmune thrombocytopenia, Recu... ORPHA:293978
Psoriasis 14, Pustular
Pustule, Leukocytosis, Cholangitis, Oligoarthritis, Neutrophilia, Psoriasiform dermatitis OMIM:614204
Bloom Syndrome
Skin rash, Respiratory tract infection, Chronic pulmonary obstruction, Decreased circulating tota... ORPHA:125
Immunodeficiency 77
Cutaneous abscess, Chronic pulmonary obstruction, Bronchiectasis OMIM:619223
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Osteomyelitis, E... ORPHA:31204
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Myocarditis, Increased propor... ORPHA:2442
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Coccidioidomycosis
Peritonitis, Skin rash, Pericarditis, Cough, Pneumonia, Increased circulating IgG level, Osteomye... ORPHA:228123
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Vacuolated lymphocytes, Abnormal natu... ORPHA:167
Oculopharyngodistal Myopathy
Restrictive ventilatory defect, Respiratory insufficiency due to muscle weakness, Bowing of the v... ORPHA:98897
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:300484
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Increased circulating IgA level... OMIM:260920
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Timothy Syndrome
Bronchitis, Pneumonia, Depressed nasal bridge OMIM:601005
Ataxia-Telangiectasia
Defective B cell differentiation, T lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Decrea... OMIM:208900
Mucoepithelial Dysplasia, Hereditary
Fibrocystic lung disease, Pneumonia, Rhinorrhea, Chronic mucocutaneous candidiasis, Recurrent pne... OMIM:158310
Yellow Nail Syndrome
Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusitis, Pulmonary a... ORPHA:662
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Pulmonary infiltrates, Neutropenia, Stomatitis, Thrombocytopenia,... OMIM:246400
Ciliary Dyskinesia, Primary, 37
Wheezing, Chronic rhinitis, Bronchiectasis, Rhinorrhea OMIM:617577
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Chronic otitis media, Pneumonia, Thrombocytopenia, Splenomegaly ORPHA:169090
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Bloom Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Chronic lung disease, Malar rash, D... OMIM:210900
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Restrictive ventilatory defect, Autoimmune thrombocytopenia, Lymphopenia, Recu... OMIM:607944
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Decreased specific antibody response to vaccination, Decreased proporti... ORPHA:221139
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Myocarditis, Hepatic granulomatosis, Osteomyelitis, Endocar... ORPHA:533
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Sweet Syndrome
Inflammation of the large intestine, Pustule, Leukocytosis, Chronic lymphatic leukemia, Panniculi... ORPHA:3243
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Respirator... OMIM:617809
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Bone marrow hy... ORPHA:88
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Skin rash, Pustule, Respiratory distress, Pulmonary fibrosis, Stomatitis, Splenomegaly, Neutrophi... OMIM:612852
Shigellosis
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Uve... ORPHA:810
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233710
Nijmegen Breakage Syndrome
T lymphocytopenia, Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Autoimmune hemolyti... OMIM:251260
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Hennekam-Beemer Syndrome
Pneumonia, Respiratory insufficiency, Wide nasal bridge, Mastocytosis, Long nose, Wide nose ORPHA:2135
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Cough, Pancytopenia, Pulmonary arterial hypertension, Abnormality of T cell physi... OMIM:181000
Bronchial Neuroendocrine Tumor
Wheezing, Dyspnea, Bronchospasm, Nonproductive cough, Pneumonia, Abnormal pulmonary interstitial ... ORPHA:97287
Roifman-Chitayat Syndrome
Arthritis, Pneumonia, Wide nasal bridge, Depressed nasal bridge OMIM:613328
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lung morphology, Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Rectal abscess, Splenomegaly, Liver abscess, Granulomatosis OMIM:306400
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Sinusitis, Myocarditis, Air crescent sign, Endocar... ORPHA:73263
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Short nose, Aspiration pneumonia, Recurrent pneumon... ORPHA:314655
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Pneumonia ORPHA:309288
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Pleuritis, Pericarditis, Interstitial pneumonitis, Urinary blad... ORPHA:449395
Relapsing Fever
Leukocytosis, Cough, Epistaxis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia, Hemoptysis ORPHA:91547
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Ane... OMIM:127550
Spondyloenchondrodysplasia
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Granuloma, Pneumonia, Pancyt... ORPHA:1855
Lissencephaly Due To Lis1 Mutation
Pachygyria, Anterior predominant thick cortex pachygyria, Dysgyria, Aspiration pneumonia, Agyria,... ORPHA:95232
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Respiratory failure requiring assisted ventilation ORPHA:204
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Respiratory failure, Pneumonia, Abnormal respiratory system phy... ORPHA:98905
Fanconi Anemia, Complementation Group F
Pneumonia, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellularity OMIM:603467
Cryptococcosis
Peritonitis, Prostatitis, Dyspnea, Respiratory distress, Pleural effusion, Cough, Pneumonia, Nodu... ORPHA:1546
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Thrombocytopenia, Increased circulating IgG level, Leukopenia, Increased ci... ORPHA:2298
Tenorio Syndrome
Apnea, Pneumonia, Stomatitis, Keratoconjunctivitis sicca, Anteverted nares, Wide nose OMIM:616260
Chops Syndrome
Short nose, Laryngomalacia, Chronic lung disease, Aspiration pneumonia, Tracheal stenosis OMIM:616368
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Central sleep apnea, Aspiration pneumonia, Pancreatitis ORPHA:431361
Familial Mediterranean Fever
Peritonitis, Pleuritis, Pericarditis, Leukocytosis, Pleural effusion, Orchitis, Erysipelas, Splen... OMIM:249100
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Normochromic anemia, Pneumonia, Normocytic anemia ORPHA:247691
Idiopathic Hypereosinophilic Syndrome
Cough, Pulmonary embolism, Chronic hepatitis, Anemia, Neutrophilia, Eczema, Eosinophilia, Respira... ORPHA:3260
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Thyroiditis, Lymphopeni... ORPHA:391487
Mirage Syndrome
Lymphopenia, Thrombocytopenia, Aspiration pneumonia, Anemia, Leukopenia, Hypoplastic spleen OMIM:617053
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent aspiration pneumonia, Polymicrogyria ORPHA:79243
Leukocyte Adhesion Deficiency Type Ii
Severe periodontitis, Abnormal isohemagglutinin level, Microcytic anemia, Leukocytosis, Recurrent... ORPHA:99843
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia ORPHA:216866
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Respiratory tract infection, Hemolytic anemia, Pleuritis, Dyspnea, Leukocytosis, P... ORPHA:544482
Herpes Simplex Virus Encephalitis
Neutrophilia, Respiratory failure requiring assisted ventilation, Leukocytosis ORPHA:1930
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia, Laryngeal stridor ORPHA:53351
Gm1 Gangliosidosis
Splenomegaly, Aspiration pneumonia, Encephalitis, Broad nasal tip, Hepatosplenomegaly, Recurrent ... ORPHA:354
Arnold-Chiari Malformation Type Ii
Apnea, Polymicrogyria, Inspiratory stridor, Pneumonia ORPHA:1136
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Inflammatory abnormality of the skin ORPHA:26793
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Hypoplasia of the epiglottis, Broad nasal tip OMIM:258865
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin rash, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Respiratory distr... ORPHA:95455
Cystic Fibrosis
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Recurrent bronchopulmonary infections, Chro... OMIM:219700
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Mastocytosis
Acute leukemia, Chronic leukemia, Mastocytosis, Splenomegaly ORPHA:98292
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Increased red blood cell count, Pustule, Granuloma, Pneumonia, Encep... ORPHA:68
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency due to muscle weakness... ORPHA:70
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Abnormal respiratory system morphology, Tracheobronchial leiomyomatosis, Cough, Keratiti... ORPHA:1018
Japanese Encephalitis
Increased circulating IgM level, Respiratory distress, Irregular respiration, Increased circulati... ORPHA:79139
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Stridor, Respiratory distress, Dyspnea, Pyoderma, Pneumonia, Laryn... ORPHA:79404
Marshall-Smith Syndrome
Apnea, Obstructive sleep apnea, Short nose, Choanal atresia, Laryngomalacia, Macrogyria, Pulmonar... OMIM:602535
Miller-Dieker Lissencephaly Syndrome
Pachygyria, Short nose, Gray matter heterotopia, Wide nasal bridge, Agyria, Recurrent aspiration ... OMIM:247200
Atrial Septal Defect, Ostium Secundum Type
Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat... ORPHA:99103
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Bronchiectasis, Neutropenia, Acute myeloid leukemia, Anemia, Depressed nasal bridge OMIM:601347
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Pneumonia, Pancytopenia, Hepatosplenomegaly, Otitis media, Dep... ORPHA:309282
Atrial Septal Defect, Coronary Sinus Type
Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi... ORPHA:99104
Cornelia De Lange Syndrome 1
Choanal atresia, Pneumonia, Thrombocytopenia, Anteverted nares, Otitis media, Depressed nasal bridge OMIM:122470
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Aspiration pneumonia, Broad nasal tip, Depressed nasal bridge ORPHA:79255
Mucopolysaccharidosis Type 3
Respiratory tract infection, Chronic otitis media, Recurrent sinopulmonary infections, Upper airw... ORPHA:581
Plague
Inflammation of the large intestine, Skin rash, Chapped lip, Endocarditis, Respiratory distress, ... ORPHA:707
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Pulmonary embolism, Aspiration pneumonia ORPHA:94093
Sarcoidosis
Bronchiectasis, Cough, Maculopapular exanthema, Anemia, Leukopenia, Abnormal nasal mucosa morphol... ORPHA:797
Say-Barber-Miller Syndrome
Decreased circulating antibody level, Impaired neutrophil chemotaxis, Abnormal T cell morphology,... ORPHA:3132
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia ORPHA:90790
Coffin-Siris Syndrome
Short nose, Recurrent upper respiratory tract infections, Aspiration pneumonia, Broad nasal tip, ... ORPHA:1465
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Chronic lung disease, Tachypnea, Recurrent aspiration pneumonia, Recurrent respiratory inf... ORPHA:397715
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia, Anteverted nares ORPHA:73230
Niemann-Pick Disease Type C
Bone-marrow foam cells, Abnormal lung morphology, Pulmonary infiltrates, Respiratory insufficienc... ORPHA:646
Congenital Fiber-Type Disproportion Myopathy
Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weakness, Respi... ORPHA:2020
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Sleep apnea, Short nose, Tracheomalacia, Laryngomalacia, Chronic lung disease, Aspiration pneumon... ORPHA:444077
Chronic Graft Versus Host Disease
Wheezing, Dyspnea, Bronchiectasis, Urinary bladder inflammation, Cough, Pleural effusion, Pancyto... ORPHA:99921
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia ORPHA:99027
Hereditary Sensory And Autonomic Neuropathy Type 4
Tooth abscess, Septic arthritis, Anemia, Fasciitis, Recurrent aspiration pneumonia, Abscess, Oste... ORPHA:642
Doors Syndrome
Thrombocytosis, Respiratory distress, Bulbous nose, Wide nasal bridge, Polymicrogyria, Aspiration... ORPHA:79500
Opitz Gbbb Syndrome
Laryngeal cleft, Tracheomalacia, Wide nasal bridge, Recurrent aspiration pneumonia, Stridor, Ante... ORPHA:2745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Asthma, Obstructive sleep apnea, Otitis media ORPHA:353281
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Short nose, Peripheral pulmonary artery stenosis, Pulmonary arterial hypertension, Recurrent aspi... ORPHA:280633
Fontaine Progeroid Syndrome
Short nose, Periventricular heterotopia, Gray matter heterotopia, Respiratory insufficiency, Pulm... OMIM:612289
Semilobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Proboscis, Chronic lung disease, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93924
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Laryngeal cartilage malformation, Pneumonia, Recurrent respiratory infections, Otitis media, Asth... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Laryngeal cartilage malformation, Pneumonia, Recurrent respiratory infections, Otitis media, Asth... ORPHA:353277
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Apnea, Hypoventilation, Central sleep apnea, Aspiration pneumonia, Breathing dysregulation, Anemi... ORPHA:438213
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Kabuki Syndrome 1
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent otitis media, Wide nasal bridge, Recurre... OMIM:147920
Pmm2-Cdg
Pericarditis, Respiratory distress, Impaired neutrophil chemotaxis, Aspiration pneumonia, Promine... ORPHA:79318

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 Cmklr1

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 Cmklr1.

No publications found that use IMPC mice or data for Cmklr1.

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