MCID: IDP074
MIFTS: 47

Idiopathic Bronchiectasis

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Idiopathic Bronchiectasis

MalaCards integrated aliases for Idiopathic Bronchiectasis:

Name: Idiopathic Bronchiectasis 58 6 70

Classifications:

Orphanet: 58  
Rare respiratory diseases


External Ids:

ICD10 via Orphanet 33 J47
UMLS via Orphanet 71 C0339985
Orphanet 58 ORPHA60033
UMLS 70 C0339985

Summaries for Idiopathic Bronchiectasis

MalaCards based summary : Idiopathic Bronchiectasis is related to bronchiectasis and cystic fibrosis. An important gene associated with Idiopathic Bronchiectasis is SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Fentanyl and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, and related phenotypes are bronchiectasis and decreased pulmonary function

Related Diseases for Idiopathic Bronchiectasis

Diseases related to Idiopathic Bronchiectasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis 30.3 SCNN1G SCNN1B SCNN1A CFTR-AS1 CFTR
2 cystic fibrosis 26.6 TAP1 SCNN1G SCNN1B SCNN1A LOC113664106 LOC113633877
3 beryllium disease 10.4 HLA-DRB1 HLA-DQB1
4 frontal fibrosing alopecia 10.4 HLA-B HLA-A
5 limbic encephalitis with lgi1 antibodies 10.4 HLA-DRB1 HLA-DQB1
6 autoimmune polyglandular syndrome type 3 10.4 HLA-DRB1 HLA-DQB1
7 achalasia, familial esophageal 10.4 HLA-DQB1 HLA-DQA1
8 idiopathic hypersomnia 10.3 HLA-DRB1 HLA-DQB1
9 hypersomnia 10.3 HLA-DRB1 HLA-DQB1
10 caplan's syndrome 10.3 HLA-DRB1 HLA-A
11 narcolepsy 2 10.3 HLA-DRB1 HLA-DQB1
12 latent autoimmune diabetes in adults 10.3 HLA-DRB1 HLA-DQB1
13 occupational asthma 10.3 HLA-DRB1 HLA-DQB1
14 apple allergy 10.3 HLA-DRB1 HLA-DQB1
15 selective igg deficiency disease 10.3 HLA-B HLA-A
16 geographic tongue 10.3 HLA-DQB1 HLA-A
17 refractory celiac disease 10.3 IFNG HLA-DQB1
18 metal allergy 10.3 HLA-DRB1 HLA-DQB1
19 tropical spastic paraparesis 10.3 IFNG HLA-B HLA-A
20 postherpetic neuralgia 10.3 HLA-DRB1 HLA-B HLA-A
21 recurrent respiratory papillomatosis 10.3 TAP1 HLA-DRB1 HLA-DQB1
22 atrophic glossitis 10.3 HLA-DQB1 HLA-A
23 mental retardation, autosomal dominant 40 10.3 HLA-DRB1 HLA-B HLA-A
24 autoimmune hepatitis 10.3 HLA-DRB1 HLA-DQB1 HLA-A
25 shrimp allergy 10.3 HLA-DQB1 HLA-DQA1
26 pediatric multiple sclerosis 10.3 HLA-DRB1 HLA-DQB1
27 pars planitis 10.3 HLA-DRB1 HLA-B HLA-A
28 primary adrenal insufficiency 10.3 HLA-DRB1 HLA-DQB1 HLA-DQA1
29 autoimmune hepatitis type 1 10.3 HLA-DRB1 HLA-DQB1 HLA-DQA1
30 focal epithelial hyperplasia 10.3 HLA-DRB1 HLA-DQB1 HLA-DQA1
31 podoconiosis 10.3 HLA-DRB1 HLA-DQB1 HLA-DQA1
32 guttate psoriasis 10.3 IFNG HLA-C
33 oligoarticular juvenile idiopathic arthritis 10.3 HLA-DRB1 HLA-DQB1 HLA-DQA1
34 trachoma 10.2 HLA-DRB1 HLA-DQB1 HLA-B
35 chronic beryllium disease 10.2 IFNG HLA-DRB1 HLA-DQB1
36 spondyloarthropathy 1 10.2 TAP2 TAP1 HLA-B
37 pemphigoid 10.2 IFNG HLA-DRB1 HLA-DQB1
38 panuveitis 10.2 HLA-DRB1 HLA-DQB1 HLA-B
39 eosinophilia-myalgia syndrome 10.2 IFNG HLA-DRB1 HLA-DQA1
40 posterior uveal melanoma 10.2 TAP2 TAP1
41 stevens-johnson syndrome/toxic epidermal necrolysis 10.2 HLA-C HLA-B HLA-A
42 intermediate uveitis 10.2 IFNG HLA-DRB1 HLA-B
43 epstein-barr virus hepatitis 10.2 HLA-C HLA-B HLA-A
44 cholangitis 10.2 HLA-DRB1 HLA-B CFTR
45 microscopic colitis 10.2 IFNG HLA-DRB1 HLA-DQB1
46 guillain-barre syndrome 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1
47 colorectal cancer, hereditary nonpolyposis, type 8 10.2 HLA-C HLA-B HLA-A
48 dengue hemorrhagic fever 10.2 IFNG HLA-B HLA-A
49 peanut allergy 10.2 IFNG HLA-DRB1 HLA-DQB1
50 rheumatic heart disease 10.2 HLA-DRB1 HLA-DQB1 HLA-DQA1

Graphical network of the top 20 diseases related to Idiopathic Bronchiectasis:



Diseases related to Idiopathic Bronchiectasis

Symptoms & Phenotypes for Idiopathic Bronchiectasis

Human phenotypes related to Idiopathic Bronchiectasis:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bronchiectasis 58 31 obligate (100%) Obligate (100%) HP:0002110
2 decreased pulmonary function 58 31 hallmark (90%) Very frequent (99-80%) HP:0005952
3 productive cough 58 31 hallmark (90%) Very frequent (99-80%) HP:0031245
4 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
5 hemoptysis 58 31 frequent (33%) Frequent (79-30%) HP:0002105
6 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
7 recurrent lower respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002783
8 crackles 58 31 frequent (33%) Frequent (79-30%) HP:0030830
9 wheezing 58 31 frequent (33%) Frequent (79-30%) HP:0030828
10 recurrent haemophilus influenzae infections 58 31 frequent (33%) Frequent (79-30%) HP:0005376
11 reduced fev1/fvc ratio 31 frequent (33%) HP:0030877
12 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
13 myocardial infarction 58 31 occasional (7.5%) Occasional (29-5%) HP:0001658
14 emphysema 58 31 occasional (7.5%) Occasional (29-5%) HP:0002097
15 cachexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004326
16 acute infectious pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011949
17 halitosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100812
18 clubbing 58 31 very rare (1%) Very rare (<4-1%) HP:0001217
19 respiratory tract infection 58 Very frequent (99-80%)
20 obstructive deficit on pulmonary function testing 58 Frequent (79-30%)

GenomeRNAi Phenotypes related to Idiopathic Bronchiectasis according to GeneCards Suite gene sharing:

26 (show all 28)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.56 HLA-A HLA-B HLA-C
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.56 HLA-A HLA-B HLA-C
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 10.56 HLA-DQA1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.56 HLA-C
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-149 10.56 HLA-DQA1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 10.56 HLA-A HLA-B HLA-C
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 10.56 HLA-DQA1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.56 HLA-A HLA-B HLA-C
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.56 HLA-A HLA-B HLA-C HLA-DQA1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 10.56 HLA-C
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.56 HLA-A HLA-B HLA-C
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.56 HLA-A HLA-B HLA-C
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.56 HLA-DQA1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.56 HLA-C
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.56 HLA-C
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 10.56 HLA-DQA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.53 HLA-DQA1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.53 HLA-A HLA-B HLA-C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.53 HLA-C
20 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.53 HLA-C
21 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.53 HLA-C
22 Increased shRNA abundance (Z-score > 2) GR00366-A-193 9.53 HLA-DQA1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-45 9.53 HLA-DQA1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.53 HLA-C
25 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.53 HLA-DQA1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.53 HLA-A HLA-B HLA-C
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.53 HLA-C
28 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.53 HLA-DQA1

MGI Mouse Phenotypes related to Idiopathic Bronchiectasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.17 CFTR FLNB HLA-DQB1 IFNG SCNN1A SCNN1B

Drugs & Therapeutics for Idiopathic Bronchiectasis

Drugs for Idiopathic Bronchiectasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
2
Midazolam Approved, Illicit 59467-70-8 4192
3 Anesthetics
4 Hypnotics and Sedatives
5 Anesthetics, Local

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-Sectional Characterization of Idiopathic Bronchiectasis Completed NCT01264055
2 Target Validation and Discovery in Idiopathic Bronchiectasis Recruiting NCT03750734
3 Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants Recruiting NCT03809091
4 Etude génétique Des Dilatations Des Bronches Idiopathiques en Polynésie française Not yet recruiting NCT04417777

Search NIH Clinical Center for Idiopathic Bronchiectasis

Genetic Tests for Idiopathic Bronchiectasis

Anatomical Context for Idiopathic Bronchiectasis

MalaCards organs/tissues related to Idiopathic Bronchiectasis:

40
Neutrophil

Publications for Idiopathic Bronchiectasis

Articles related to Idiopathic Bronchiectasis:

(show top 50) (show all 91)
# Title Authors PMID Year
1
Could a defective epithelial sodium channel lead to bronchiectasis. 6 61
18507830 2008
2
Pseudohypoaldosteronism. 6
23392097 2013
3
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. 6
19462466 2009
4
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 6
16207733 2005
5
Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. 6
10403853 1999
6
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 6
9654209 1998
7
Bronchial artery embolization: A gratifying life-saving procedure. 61
33641850 2021
8
Impact of mannose-binding lectin 2 gene polymorphisms on disease severity in noncystic fibrosis bronchiectasis in children. 61
32119194 2020
9
Performance of Multidimensional Severity Scoring Systems in Patients with Post-Tuberculosis Bronchiectasis. 61
32982208 2020
10
Co-infection of SARS-CoV-2 and Bordetella bronchiseptica in a young man with idiopathic non-cystic bronchiectasis and vitamin D3 deficiency. 61
32874904 2020
11
Characterization of the severity of dyspnea in patients with bronchiectasis: correlation with clinical, functional, and tomographic aspects. 61
32556031 2020
12
Noncystic Fibrosis Bronchiectasis: Evaluation of an Extensive Diagnostic Protocol in Determining Pediatric Lung Disease Etiology. 61
32140286 2019
13
New-onset asthma in a bilateral lung transplant patient. 61
31676572 2019
14
[Correlation between chest CT features and clinical characteristics of patients with bronchiectasis]. 61
31607029 2019
15
Achromobacter xylosoxidans in idiopathic cystic bronchiectasis. 61
30567079 2018
16
Pathophysiology and Genetics of Bronchiectasis Unrelated to Cystic Fibrosis. 61
29754320 2018
17
Survival of pathogenic Mycobacterium abscessus subsp. massiliense in Acanthamoeba castellanii. 61
29056478 2018
18
Etiology of Bronchiectasis in a Cohort of 2047 Patients. An Analysis of the Spanish Historical Bronchiectasis Registry. 61
28118936 2017
19
Bronchiectasis in yellow nail syndrome. 61
27551950 2017
20
Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants. 61
27409985 2016
21
The Multiple Faces of Non-Cystic Fibrosis Bronchiectasis. A Cluster Analysis Approach. 61
27348199 2016
22
Effects of functional endoscopic sinus surgery on the treatment of bronchiectasis combined with chronic rhino-sinusitis. 61
27002736 2016
23
Allergic bronchopulmonary aspergillosis complicating Swyer-James-Macleod's syndrome: case report and review of literature. 61
27152607 2016
24
Unsupervised learning technique identifies bronchiectasis phenotypes with distinct clinical characteristics. 61
27046724 2016
25
Eradication of Mycobacterium abscessus Pulmonary Infection in a Child With Idiopathic Bronchiectasis. 61
27896296 2016
26
Etiology of Non-Cystic Fibrosis Bronchiectasis in Adults and Its Correlation to Disease Severity. 61
26431397 2015
27
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. 61
26250371 2015
28
Aetiology and clinical characteristics of patients with bronchiectasis in a Chinese Han population: A prospective study. 61
26096854 2015
29
Aetiology of bronchiectasis in Guangzhou, southern China. 61
25819403 2015
30
Bronchial artery embolization for massive hemoptysis: long-term follow-up. 61
25053662 2015
31
Neutrophil elastase gene polymorphisms: modulators of response to therapy in childhood bronchiectasis? 61
24816969 2014
32
Lack of association between KIR and HLA-C type and susceptibility to idiopathic bronchiectasis. 61
24986480 2014
33
Expiratory air trapping on thoracic computed tomography. A diagnostic subclassification. 61
24956379 2014
34
p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders? 61
24451227 2014
35
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 61
24568568 2014
36
Effect of granulocyte-macrophage colony-stimulating factor on neutrophil function in idiopathic bronchiectasis. 61
23730995 2013
37
Characterization of SLC26A9 in patients with CF-like lung disease. 61
24272871 2013
38
Phenotyping adults with non-cystic fibrosis bronchiectasis: a prospective observational cohort study. 61
23672995 2013
39
Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children. 61
23781395 2013
40
First report of lung transplantation in a patient with active pulmonary Mycobacterium simiae infection. 61
23267789 2013
41
Immune regulation in idiopathic bronchiectasis. 61
23231716 2012
42
Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. 61
22423042 2012
43
Pulmonary rehabilitation in patients with bronchiectasis: pulmonary function, arterial blood gases, and the 6-minute walk test. 61
22885612 2012
44
Risk factors for morbidity and death in non-cystic fibrosis bronchiectasis: a retrospective cross-sectional analysis of CT diagnosed bronchiectatic patients. 61
22423975 2012
45
The importance of smell in patients with bronchiectasis. 61
21111591 2011
46
Should the bronchiectasis treatment given to cystic fibrosis patients be extrapolated to those with bronchiectasis from other causes? 61
20835588 2010
47
Anti-neutrophil cytoplasmic antibodies (ANCA) in serum and bronchoalveolar lavage fluids of cystic fibrosis patients and patients with idiopathic bronchiectasis. 61
21043377 2010
48
Volumetric capnography for the evaluation of pulmonary disease in adult patients with cystic fibrosis and noncystic fibrosis bronchiectasis. 61
20049470 2010
49
[Recombinant human DNase in conditions other than cystic fibrosis]. 61
20184817 2010
50
A fatal case of cough. 61
20082340 2010

Variations for Idiopathic Bronchiectasis

ClinVar genetic disease variations for Idiopathic Bronchiectasis:

6 (show top 50) (show all 198)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCNN1G NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) SNV Pathogenic 8828 rs5736 GRCh37: 16:23200921-23200921
GRCh38: 16:23189600-23189600
2 SCNN1A NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) SNV Pathogenic 9268 rs61759861 GRCh37: 12:6483610-6483610
GRCh38: 12:6374444-6374444
3 SCNN1B NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) SNV Pathogenic 8843 rs137852712 GRCh37: 16:23379263-23379263
GRCh38: 16:23367942-23367942
4 SCNN1B NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) SNV Pathogenic 8842 rs137852711 GRCh37: 16:23383157-23383157
GRCh38: 16:23371836-23371836
5 SCNN1B NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys) SNV Pathogenic 8841 rs137852710 GRCh37: 16:23391814-23391814
GRCh38: 16:23380493-23380493
6 SCNN1B NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) SNV Pathogenic 8840 rs72654338 GRCh37: 16:23379280-23379280
GRCh38: 16:23367959-23367959
7 SCNN1B NM_000336.3(SCNN1B):c.1543-2A>G SNV Pathogenic 8839 rs1596894031 GRCh37: 16:23391740-23391740
GRCh38: 16:23380419-23380419
8 SCNN1B NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) SNV Pathogenic 8838 rs137852709 GRCh37: 16:23379200-23379200
GRCh38: 16:23367879-23367879
9 SCNN1G NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) SNV Pathogenic 8829 rs5738 GRCh37: 16:23200963-23200963
GRCh38: 16:23189642-23189642
10 SCNN1A NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) SNV Pathogenic 9270 rs61759860 GRCh37: 12:6483709-6483709
GRCh38: 12:6374543-6374543
11 CFTR NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) SNV Pathogenic 35833 rs121908759 GRCh37: 7:117232086-117232086
GRCh38: 7:117592032-117592032
12 CFTR NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) SNV Pathogenic 48688 rs77834169 GRCh37: 7:117171028-117171028
GRCh38: 7:117530974-117530974
13 CFTR NM_000492.4(CFTR):c.350G>A (p.Arg117His) SNV Pathogenic 7109 rs78655421 GRCh37: 7:117171029-117171029
GRCh38: 7:117530975-117530975
14 CFTR NM_000492.4(CFTR):c.489+1G>T SNV Pathogenic 38799 rs78756941 GRCh37: 7:117171169-117171169
GRCh38: 7:117531115-117531115
15 CFTR NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) SNV Pathogenic 48692 rs80282562 GRCh37: 7:117174372-117174372
GRCh38: 7:117534318-117534318
16 CFTR NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) SNV Pathogenic 7129 rs77010898 GRCh37: 7:117282620-117282620
GRCh38: 7:117642566-117642566
17 CFTR NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) SNV Pathogenic 7139 rs121909011 GRCh37: 7:117180284-117180284
GRCh38: 7:117540230-117540230
18 CFTR NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) SNV Pathogenic 7198 rs121908753 GRCh37: 7:117180339-117180339
GRCh38: 7:117540285-117540285
19 CFTR , CFTR-AS1 NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) SNV Pathogenic 7111 rs74551128 GRCh37: 7:117188849-117188849
GRCh38: 7:117548795-117548795
20 SCNN1A NM_001038.6(SCNN1A):c.666G>A (p.Trp222Ter) SNV Pathogenic 997648 GRCh37: 12:6472627-6472627
GRCh38: 12:6363461-6363461
21 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) SNV Pathogenic 7155 rs121909017 GRCh37: 7:117199600-117199600
GRCh38: 7:117559546-117559546
22 CFTR , LOC111674475 NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) SNV Pathogenic 7115 rs113993959 GRCh37: 7:117227832-117227832
GRCh38: 7:117587778-117587778
23 CFTR , LOC111674475 NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) SNV Pathogenic 40190 rs121909005 GRCh37: 7:117227855-117227855
GRCh38: 7:117587801-117587801
24 CFTR NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) SNV Pathogenic 54036 rs397508778 GRCh37: 7:117175380-117175380
GRCh38: 7:117535326-117535326
25 CFTR NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) SNV Pathogenic 53797 rs267606723 GRCh37: 7:117282505-117282505
GRCh38: 7:117642451-117642451
26 CFTR , LOC113633877 NM_000492.3(CFTR):c.3718-2477C>T SNV Pathogenic 7166 rs75039782 GRCh37: 7:117280015-117280015
GRCh38: 7:117639961-117639961
27 CFTR NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) SNV Pathogenic 7144 rs79850223 GRCh37: 7:117267579-117267579
GRCh38: 7:117627525-117627525
28 CFTR , LOC111674472 NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) SNV Pathogenic 38728 rs121908761 GRCh37: 7:117251771-117251771
GRCh38: 7:117611717-117611717
29 CFTR NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) SNV Pathogenic 7190 rs121908752 GRCh37: 7:117175339-117175339
GRCh38: 7:117535285-117535285
30 CFTR NM_000492.3(CFTR):c.595C>T (p.His199Tyr) SNV Pathogenic 54018 rs121908802 GRCh37: 7:117175317-117175317
GRCh38: 7:117535263-117535263
31 CFTR NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) SNV Pathogenic 54007 rs397508759 GRCh37: 7:117174417-117174417
GRCh38: 7:117534363-117534363
32 CFTR , LOC113664106 NM_000492.3(CFTR):c.178G>T (p.Glu60Ter) SNV Pathogenic 38730 rs77284892 GRCh37: 7:117149101-117149101
GRCh38: 7:117509047-117509047
33 CFTR NM_000492.3(CFTR):c.274-1G>A SNV Pathogenic 48680 rs121908792 GRCh37: 7:117170952-117170952
GRCh38: 7:117530898-117530898
34 SCNN1A NM_001038.6(SCNN1A):c.1834del (p.Ser612fs) Deletion Pathogenic 1034390 GRCh37: 12:6457215-6457215
GRCh38: 12:6348049-6348049
35 CFTR , LOC111674472 NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) SNV Pathogenic 7194 rs78802634 GRCh37: 7:117251761-117251761
GRCh38: 7:117611707-117611707
36 CFTR NM_000492.3(CFTR):c.2988+1G>A SNV Pathogenic 7224 rs75096551 GRCh37: 7:117246808-117246808
GRCh38: 7:117606754-117606754
37 CFTR NM_000492.4(CFTR):c.2657+5G>A SNV Pathogenic 38497 rs80224560 GRCh37: 7:117242922-117242922
GRCh38: 7:117602868-117602868
38 CFTR NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) Indel Pathogenic 35837 rs121908799 GRCh37: 7:117232272-117232273
GRCh38: 7:117592218-117592219
39 CFTR NM_000492.3(CFTR):c.1680-886A>G SNV Pathogenic 53338 rs397508266 GRCh37: 7:117229521-117229521
GRCh38: 7:117589467-117589467
40 CFTR , LOC111674475 NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) SNV Pathogenic 7122 rs74597325 GRCh37: 7:117227865-117227865
GRCh38: 7:117587811-117587811
41 CFTR , LOC111674475 NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) SNV Pathogenic 7120 rs75527207 GRCh37: 7:117227860-117227860
GRCh38: 7:117587806-117587806
42 CFTR NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) SNV Likely pathogenic 53606 rs397508464 GRCh37: 7:117170972-117170972
GRCh38: 7:117530918-117530918
43 CFTR , CFTR-AS1 NM_000492.4(CFTR):c.1367T>C SNV Likely pathogenic 35821 rs193922500 GRCh37: 7:117188852-117188852
GRCh38: 7:117548798-117548798
44 SCNN1A NM_001038.6(SCNN1A):c.942del (p.Asn315fs) Deletion Likely pathogenic 504974 rs1555112332 GRCh37: 12:6464980-6464980
GRCh38: 12:6355814-6355814
45 SCNN1G NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) Duplication Likely pathogenic 804476 rs1596760831 GRCh37: 16:23197731-23197732
GRCh38: 16:23186410-23186411
46 SCNN1B NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) SNV Conflicting interpretations of pathogenicity 8844 rs35731153 GRCh37: 16:23360165-23360165
GRCh38: 16:23348844-23348844
47 CFTR NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) SNV Uncertain significance 35842 rs1800103 GRCh37: 7:117232642-117232642
GRCh38: 7:117592588-117592588
48 SCNN1G NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) SNV Uncertain significance 451433 rs144653364 GRCh37: 16:23226089-23226089
GRCh38: 16:23214768-23214768
49 CFTR NM_000492.3(CFTR):c.638G>A (p.Gly213Glu) SNV Uncertain significance 411118 rs775701644 GRCh37: 7:117175360-117175360
GRCh38: 7:117535306-117535306
50 CFTR NM_000492.3(CFTR):c.2758G>A (p.Val920Met) SNV Uncertain significance 53561 rs373885282 GRCh37: 7:117243686-117243686
GRCh38: 7:117603632-117603632

Expression for Idiopathic Bronchiectasis

Search GEO for disease gene expression data for Idiopathic Bronchiectasis.

Pathways for Idiopathic Bronchiectasis

Pathways related to Idiopathic Bronchiectasis according to GeneCards Suite gene sharing:

(show all 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 TAP2 TAP1 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
2
Show member pathways
13.36 TAP2 TAP1 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C
3
Show member pathways
13.26 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B
4
Show member pathways
12.85 TAP2 TAP1 HLA-C HLA-B HLA-A
5
Show member pathways
12.84 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A
6
Show member pathways
12.73 TAP2 TAP1 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
7
Show member pathways
12.72 TAP2 TAP1 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
8 12.61 TAP2 TAP1 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
9
Show member pathways
12.41 IFNG HLA-C HLA-B HLA-A
10
Show member pathways
12.38 TAP2 TAP1 HLA-C HLA-B HLA-A
11 12.32 HLA-C HLA-B HLA-A CXCR1
12 12.27 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A
13
Show member pathways
12.25 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B
14
Show member pathways
12.18 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
15 12.15 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
16 12.08 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A
17
Show member pathways
11.88 IFNG HLA-DRB1 HLA-A
18
Show member pathways
11.86 HLA-DRB1 HLA-DQB1 HLA-DQA1
19 11.82 HLA-DRB1 HLA-DQB1 HLA-DQA1
20 11.8 HLA-DRB1 HLA-DQB1 HLA-DQA1
21 11.78 HLA-DRB1 HLA-DQB1 HLA-DQA1
22 11.76 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
23
Show member pathways
11.69 HLA-DRB1 HLA-DQB1 HLA-DQA1
24 11.63 HLA-DRB1 HLA-DQB1 HLA-DQA1
25 11.41 TAP2 TAP1 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C
26 11.32 TAP1 IFNG HLA-B
27 11.32 SCNN1G SCNN1B SCNN1A CFTR
28 11.31 SCNN1G SCNN1B SCNN1A
29 11.15 SCNN1G SCNN1B SCNN1A
30 10.82 SCNN1G SCNN1B SCNN1A CFTR
31 10.75 TAP2 TAP1 HLA-C HLA-B HLA-A

GO Terms for Idiopathic Bronchiectasis

Cellular components related to Idiopathic Bronchiectasis according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.37 TAP2 TAP1 SCNN1G SCNN1B SCNN1A HLA-DRB1
2 endoplasmic reticulum GO:0005783 10.17 TAP2 TAP1 HLA-DRB1 HLA-DQA1 HLA-C HLA-B
3 integral component of plasma membrane GO:0005887 10.09 SCNN1G SCNN1B SCNN1A HLA-DRB1 HLA-DQA1 HLA-C
4 endoplasmic reticulum membrane GO:0005789 10.06 TAP2 TAP1 HLA-DRB1 HLA-DQA1 HLA-C HLA-B
5 Golgi membrane GO:0000139 10.03 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A
6 cell surface GO:0009986 10.01 HLA-DRB1 HLA-C HLA-B HLA-A CFTR
7 lysosomal membrane GO:0005765 9.92 HLA-DRB1 HLA-DQB1 HLA-DQA1 CFTR
8 endosome membrane GO:0010008 9.9 HLA-DRB1 HLA-DQB1 HLA-DQA1 CFTR
9 early endosome membrane GO:0031901 9.84 HLA-C HLA-B HLA-A CFTR
10 secretory granule membrane GO:0030667 9.78 HLA-C HLA-B CXCR1
11 recycling endosome membrane GO:0055038 9.78 HLA-C HLA-B HLA-A CFTR
12 trans-Golgi network membrane GO:0032588 9.77 HLA-DRB1 HLA-DQB1 HLA-DQA1
13 endocytic vesicle membrane GO:0030666 9.75 HLA-DRB1 HLA-DQB1 HLA-DQA1
14 transport vesicle membrane GO:0030658 9.72 HLA-DRB1 HLA-DQB1 HLA-DQA1
15 clathrin-coated endocytic vesicle membrane GO:0030669 9.67 HLA-DRB1 HLA-DQB1 HLA-DQA1
16 plasma membrane protein complex GO:0098797 9.58 SCNN1G SCNN1B
17 MHC class II protein complex GO:0042613 9.58 HLA-DRB1 HLA-DQB1 HLA-DQA1
18 phagocytic vesicle membrane GO:0030670 9.55 TAP2 TAP1 HLA-C HLA-B HLA-A
19 MHC class I protein complex GO:0042612 9.54 HLA-C HLA-B HLA-A
20 TAP complex GO:0042825 9.51 TAP2 TAP1
21 MHC class I peptide loading complex GO:0042824 9.5 TAP2 TAP1 HLA-A
22 sodium channel complex GO:0034706 9.43 SCNN1G SCNN1B SCNN1A
23 ER to Golgi transport vesicle membrane GO:0012507 9.43 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A
24 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.1 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A

Biological processes related to Idiopathic Bronchiectasis according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 10.1 TAP2 TAP1 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C
2 viral process GO:0016032 10.03 TAP2 TAP1 HLA-C HLA-B HLA-A
3 immune response GO:0006955 9.97 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B
4 adaptive immune response GO:0002250 9.91 TAP2 TAP1 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1
5 T cell receptor signaling pathway GO:0050852 9.89 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-A
6 sodium ion transmembrane transport GO:0035725 9.81 SCNN1G SCNN1B SCNN1A
7 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.8 HLA-DRB1 HLA-DQB1 HLA-DQA1
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.8 TAP2 TAP1 HLA-C HLA-B HLA-A
9 type I interferon signaling pathway GO:0060337 9.79 HLA-C HLA-B HLA-A
10 sensory perception of taste GO:0050909 9.76 SCNN1G SCNN1B SCNN1A
11 positive regulation of T cell mediated cytotoxicity GO:0001916 9.72 HLA-DRB1 HLA-B HLA-A
12 sodium ion homeostasis GO:0055078 9.71 SCNN1G SCNN1B SCNN1A
13 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.7 HLA-DRB1 HLA-DQB1 HLA-DQA1
14 detection of bacterium GO:0016045 9.69 HLA-DRB1 HLA-B HLA-A
15 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.65 TAP2 TAP1 HLA-A
16 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.63 HLA-C HLA-B HLA-A
17 peptide transport GO:0015833 9.62 TAP2 TAP1
18 multicellular organismal water homeostasis GO:0050891 9.62 SCNN1G SCNN1B SCNN1A CFTR
19 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.61 TAP2 TAP1
20 protection from natural killer cell mediated cytotoxicity GO:0042270 9.61 HLA-B HLA-A
21 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.61 HLA-C HLA-B HLA-A
22 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.6 HLA-DRB1 HLA-DQB1
23 cellular response to aldosterone GO:1904045 9.58 SCNN1G SCNN1B
24 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.57 HLA-DRB1 HLA-DQB1
25 cytosol to ER transport GO:0046967 9.56 TAP2 TAP1
26 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.55 TAP2 TAP1 HLA-C HLA-B HLA-A
27 antigen processing and presentation GO:0019882 9.43 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B HLA-A
28 interferon-gamma-mediated signaling pathway GO:0060333 9.17 IFNG HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C HLA-B

Molecular functions related to Idiopathic Bronchiectasis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.65 TAP2 TAP1 CFTR
2 MHC protein binding GO:0042287 9.54 TAP2 TAP1
3 WW domain binding GO:0050699 9.54 SCNN1G SCNN1B SCNN1A
4 T cell receptor binding GO:0042608 9.52 HLA-DRB1 HLA-A
5 TAP1 binding GO:0046978 9.51 TAP2 TAP1
6 sodium channel activity GO:0005272 9.5 SCNN1G SCNN1B SCNN1A
7 MHC class Ib protein binding GO:0023029 9.49 TAP2 TAP1
8 peptide antigen-transporting ATPase activity GO:0015433 9.46 TAP2 TAP1
9 peptide transmembrane transporter activity GO:1904680 9.43 TAP2 TAP1
10 ligand-gated sodium channel activity GO:0015280 9.43 SCNN1G SCNN1B SCNN1A
11 peptide-transporting ATPase activity GO:0015440 9.4 TAP2 TAP1
12 MHC class II receptor activity GO:0032395 9.33 HLA-DRB1 HLA-DQB1 HLA-DQA1
13 peptide antigen binding GO:0042605 9.23 TAP2 TAP1 HLA-DRB1 HLA-DQB1 HLA-DQA1 HLA-C
14 TAP binding GO:0046977 9.13 HLA-C HLA-B HLA-A

Sources for Idiopathic Bronchiectasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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