MCID: IDP074
MIFTS: 36

Idiopathic Bronchiectasis

Categories: Respiratory diseases, Rare diseases

Aliases & Classifications for Idiopathic Bronchiectasis

MalaCards integrated aliases for Idiopathic Bronchiectasis:

Name: Idiopathic Bronchiectasis 59 73

Classifications:

Orphanet: 59  
Rare respiratory diseases


External Ids:

Orphanet 59 ORPHA60033
UMLS via Orphanet 74 C0339985
ICD10 via Orphanet 34 J47
UMLS 73 C0339985

Summaries for Idiopathic Bronchiectasis

MalaCards based summary : Idiopathic Bronchiectasis is related to asthma and bronchiectasis. An important gene associated with Idiopathic Bronchiectasis is SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include neutrophil and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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 92)
# Related Disease Score Top Affiliating Genes
1 asthma 28.5 CFTR HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
2 bronchiectasis 28.3 CFTR SCNN1A SCNN1B SCNN1G
3 cystic fibrosis 26.9 CFTR CXCR1 SCNN1A SCNN1B SCNN1G
4 limbic encephalitis with lgi1 antibodies 10.9 HLA-DQB1 HLA-DRB1
5 metal allergy 10.8 HLA-DQB1 HLA-DRB1
6 hypersomnia 10.8 HLA-DQB1 HLA-DRB1
7 lichen planopilaris 10.8 HLA-DQB1 HLA-DRB1
8 type ii mixed cryoglobulinemia 10.8 HLA-DQB1 HLA-DRB1
9 beryllium disease 10.8 HLA-DQB1 HLA-DRB1
10 berylliosis 10.7 HLA-DRB1 IFNG
11 refractory celiac disease 10.7 HLA-DQB1 IFNG
12 achalasia, familial esophageal 10.7 HLA-DQA1 HLA-DQB1
13 lichen sclerosus 10.6 HLA-DQB1 HLA-DRB1
14 chronic beryllium disease 10.6 HLA-DQB1 HLA-DRB1 IFNG
15 whipple disease 10.6 HLA-DQB1 HLA-DRB1
16 peanut allergy 10.6 HLA-DQB1 HLA-DRB1 IFNG
17 phenytoin or carbamazepine toxicity 10.6 HLA-A HLA-B
18 immunodeficiency by defective expression of hla class 1 10.6 TAP1 TAP2
19 pediatric multiple sclerosis 10.5 HLA-DQB1 HLA-DRB1
20 microscopic polyangiitis 10.5 HLA-B HLA-DRB1
21 atrial tachyarrhythmia with short pr interval 10.5 HLA-A HLA-B
22 osteonecrosis of the jaw 10.5 HLA-DQB1 HLA-DRB1
23 autoimmune hepatitis 10.5 HLA-A HLA-DQB1 HLA-DRB1
24 dengue hemorrhagic fever 10.5 HLA-A HLA-DRB1 IFNG
25 focal epithelial hyperplasia 10.5 HLA-DQA1 HLA-DQB1 HLA-DRB1
26 recurrent respiratory papillomatosis 10.5 HLA-DQA1 HLA-DQB1 HLA-DRB1
27 bare lymphocyte syndrome, type ii 10.4 HLA-A HLA-DQB1 TAP2
28 cardiac sarcoidosis 10.4 TAP1 TAP2
29 oligoarticular juvenile idiopathic arthritis 10.4 HLA-DQA1 HLA-DQB1 HLA-DRB1
30 eosinophilia-myalgia syndrome 10.4 HLA-DQA1 HLA-DRB1 IFNG
31 congenital toxoplasmosis 10.4 HLA-DQA1 HLA-DQB1
32 acute disseminated encephalomyelitis 10.4 HLA-B HLA-DQB1 HLA-DRB1
33 anterior uveitis 10.4 HLA-A HLA-B
34 cytomegalovirus retinitis 10.4 HLA-B HLA-DQB1 IFNG
35 toxoplasmosis 10.4 HLA-DQA1 HLA-DQB1 IFNG
36 panuveitis 10.4 HLA-B HLA-DQB1 HLA-DRB1
37 postherpetic neuralgia 10.3 HLA-A HLA-B HLA-DRB1
38 autoimmune pancreatitis 10.3 CFTR HLA-DQB1 HLA-DRB1
39 microscopic colitis 10.3 HLA-DRB1 IFNG
40 rheumatic heart disease 10.3 HLA-A HLA-DQA1 HLA-DRB1
41 pars planitis 10.3 HLA-A HLA-B HLA-DRB1
42 sympathetic ophthalmia 10.3 HLA-C HLA-DQA1 HLA-DRB1
43 echinococcosis 10.3 HLA-B HLA-DRB1 IFNG
44 pure red-cell aplasia 10.3 HLA-A HLA-B HLA-DRB1
45 rheumatic disease 10.2 HLA-B HLA-DRB1 IFNG
46 takayasu arteritis 10.2 HLA-A HLA-B HLA-DRB1
47 glaucomatocyclitic crisis 10.2 HLA-A HLA-B HLA-C
48 idiopathic inflammatory myopathy 10.2 HLA-B HLA-DQA1 HLA-DRB1
49 human herpesvirus 8 10.2 HLA-A HLA-B HLA-C
50 severe cutaneous adverse reaction 10.1 HLA-A HLA-B HLA-C

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



Diseases related to Idiopathic Bronchiectasis

Symptoms & Phenotypes for Idiopathic Bronchiectasis

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.71 HLA-B HLA-A HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.71 HLA-B HLA-A HLA-C HLA-DQA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.71 HLA-B HLA-A HLA-C
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.71 HLA-DQA1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.71 HLA-C
6 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.71 HLA-C HLA-DQA1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.71 HLA-B HLA-A HLA-C
8 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.71 HLA-C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.71 HLA-B HLA-A HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.71 HLA-DQA1 HLA-B HLA-A HLA-C
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.71 HLA-C
12 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.71 HLA-B HLA-A HLA-C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.71 HLA-DQA1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.71 HLA-C
15 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.71 HLA-B HLA-A HLA-C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.71 HLA-DQA1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.71 HLA-B HLA-A HLA-C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.71 HLA-C
19 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.71 HLA-DQA1

MGI Mouse Phenotypes related to Idiopathic Bronchiectasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 CFTR HLA-DQB1 IFNG SCNN1A SCNN1B SCNN1G
2 normal MP:0002873 9.5 HLA-DQB1 IFNG SCNN1A SCNN1B SCNN1G CFTR
3 respiratory system MP:0005388 9.17 CFTR FLNB HLA-DQB1 IFNG SCNN1A SCNN1B

Drugs & Therapeutics for Idiopathic Bronchiectasis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cross-sectional Characterization of Idiopathic Bronchiectasis Completed NCT01264055
2 Evaluation of the Safety of the Medical Device Simeox® Terminated NCT02061852 Not Applicable

Search NIH Clinical Center for Idiopathic Bronchiectasis

Genetic Tests for Idiopathic Bronchiectasis

Anatomical Context for Idiopathic Bronchiectasis

MalaCards organs/tissues related to Idiopathic Bronchiectasis:

41
Neutrophil, Lung

Publications for Idiopathic Bronchiectasis

Articles related to Idiopathic Bronchiectasis:

(show all 18)
# Title Authors Year
1
Eradication of Mycobacterium abscessus Pulmonary Infection in a Child With Idiopathic Bronchiectasis. ( 27896296 )
2016
2
Enlarged Dural Sac in Idiopathic Bronchiectasis Implicates Heritable Connective Tissue Gene Variants. ( 27409985 )
2016
3
Lack of association between KIR and HLA-C type and susceptibility to idiopathic bronchiectasis. ( 24986480 )
2014
4
Analysis of CFTR Gene Variants in Idiopathic Bronchiectasis in Serbian Children. ( 23781395 )
2013
5
Effect of granulocyte-macrophage colony-stimulating factor on neutrophil function in idiopathic bronchiectasis. ( 23730995 )
2013
6
Immune regulation in idiopathic bronchiectasis. ( 23231716 )
2012
7
Anti-neutrophil cytoplasmic antibodies (ANCA) in serum and bronchoalveolar lavage fluids of cystic fibrosis patients and patients with idiopathic bronchiectasis. ( 21043377 )
2010
8
Physical and transport properties of sputum from children with idiopathic bronchiectasis. ( 18753467 )
2008
9
Mucosal inflammation in idiopathic bronchiectasis: cellular and molecular mechanisms. ( 18238949 )
2008
10
Human leucocyte antigen class II association in idiopathic bronchiectasis, a disease of chronic lung infection, implicates a role for adaptive immunity. ( 18241227 )
2008
11
Toll-like receptors 2 and 4 and innate immunity in neutrophilic asthma and idiopathic bronchiectasis. ( 17329561 )
2007
12
The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children. ( 17245734 )
2007
13
HLA-C and killer cell immunoglobulin-like receptor genes in idiopathic bronchiectasis. ( 16254274 )
2006
14
IFN gamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis. ( 17026468 )
2006
15
Interlobular septal thickening in idiopathic bronchiectasis: a thin-section CT study of 94 patients. ( 16251392 )
2005
16
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis. ( 12843327 )
2003
17
Treatment of idiopathic bronchiectasis with aerosolized recombinant human DNase I. rhDNase Study Group. ( 9596315 )
1998
18
So called idiopathic bronchiectasis. (Special review about therapy and results). ( 4784219 )
1973

Variations for Idiopathic Bronchiectasis

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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 CXCR1 FLNB HLA-A HLA-B HLA-C HLA-DQA1
2
Show member pathways
13.34 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
3
Show member pathways
13.22 FLNB HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1
4
Show member pathways
12.83 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
5
Show member pathways
12.76 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
6
Show member pathways
12.56 CFTR SCNN1A SCNN1B SCNN1G
7
Show member pathways
12.53 HLA-A HLA-B HLA-C IFNG
8
Show member pathways
12.4 HLA-A HLA-B HLA-C IFNG
9
Show member pathways
12.38 HLA-A HLA-B HLA-C TAP1 TAP2
10 12.36 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
11
Show member pathways
12.35 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
12
Show member pathways
12.35 FLNB HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1
13 12.31 CXCR1 HLA-A HLA-B HLA-C
14
Show member pathways
12.3 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
15
Show member pathways
12.17 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
16 12.17 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
17 12.15 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
18
Show member pathways
12.09 HLA-DQA1 HLA-DQB1 HLA-DRB1
19
Show member pathways
12.07 HLA-DQA1 HLA-DQB1 HLA-DRB1
20 12.07 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
21 12.05 HLA-A HLA-B HLA-C
22 11.97 HLA-A HLA-B HLA-C
23
Show member pathways
11.92 SCNN1A SCNN1B SCNN1G
24
Show member pathways
11.88 HLA-A HLA-DRB1 IFNG
25
Show member pathways
11.86 HLA-DQA1 HLA-DQB1 HLA-DRB1
26 11.83 HLA-DQA1 HLA-DQB1 HLA-DRB1
27 11.82 HLA-DQA1 HLA-DQB1 HLA-DRB1
28 11.8 HLA-DQA1 HLA-DQB1 HLA-DRB1
29 11.75 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
30 11.64 HLA-DQA1 HLA-DQB1 HLA-DRB1
31 11.53 HLA-DQA1 HLA-DQB1 HLA-DRB1
32 11.41 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
33 11.33 SCNN1A SCNN1B SCNN1G
34 11.32 HLA-B IFNG TAP1
35 11.3 CFTR SCNN1A SCNN1B SCNN1G
36 11.19 SCNN1A SCNN1B SCNN1G
37 11.12 HLA-DRB1 IFNG
38 10.95 HLA-A HLA-B HLA-C TAP1 TAP2
39 10.82 CFTR SCNN1A SCNN1B SCNN1G

GO Terms for Idiopathic Bronchiectasis

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 Golgi membrane GO:0000139 9.95 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
2 apical plasma membrane GO:0016324 9.92 CFTR SCNN1A SCNN1B SCNN1G
3 lysosomal membrane GO:0005765 9.92 CFTR HLA-DQA1 HLA-DQB1 HLA-DRB1
4 endosome membrane GO:0010008 9.87 CFTR HLA-DQA1 HLA-DQB1 HLA-DRB1
5 early endosome membrane GO:0031901 9.83 CFTR HLA-A HLA-B HLA-C
6 secretory granule membrane GO:0030667 9.8 CXCR1 HLA-B HLA-C
7 trans-Golgi network membrane GO:0032588 9.78 HLA-DQA1 HLA-DQB1 HLA-DRB1
8 endocytic vesicle membrane GO:0030666 9.75 HLA-DQA1 HLA-DQB1 HLA-DRB1
9 transport vesicle membrane GO:0030658 9.72 HLA-DQA1 HLA-DQB1 HLA-DRB1
10 recycling endosome membrane GO:0055038 9.71 CFTR HLA-A HLA-B HLA-C
11 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 HLA-DQA1 HLA-DQB1 HLA-DRB1
12 MHC class II protein complex GO:0042613 9.61 HLA-DQA1 HLA-DQB1 HLA-DRB1
13 phagocytic vesicle membrane GO:0030670 9.55 HLA-A HLA-B HLA-C TAP1 TAP2
14 TAP complex GO:0042825 9.54 TAP1 TAP2
15 MHC class I protein complex GO:0042612 9.54 HLA-A HLA-B HLA-C
16 sodium channel complex GO:0034706 9.43 SCNN1A SCNN1B SCNN1G
17 ER to Golgi transport vesicle membrane GO:0012507 9.43 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
18 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.1 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
19 membrane GO:0016020 10.41 CFTR CXCR1 HLA-A HLA-B HLA-C HLA-DQA1
20 plasma membrane GO:0005886 10.27 CFTR CXCR1 FLNB HLA-A HLA-B HLA-C
21 extracellular exosome GO:0070062 10.21 CFTR FLNB HLA-A HLA-B HLA-C HLA-DRB1
22 integral component of membrane GO:0016021 10.17 CFTR CXCR1 FLNB HLA-A HLA-B HLA-C
23 integral component of plasma membrane GO:0005887 10.13 CFTR HLA-A HLA-B HLA-DQA1 SCNN1A SCNN1B
24 endoplasmic reticulum membrane GO:0005789 10.07 CFTR HLA-A HLA-DQA1 HLA-DRB1 TAP1 TAP2
25 endoplasmic reticulum GO:0005783 10.06 CFTR HLA-A HLA-B HLA-C HLA-DQA1 HLA-DRB1
26 cell surface GO:0009986 10.01 CFTR HLA-A HLA-B HLA-C HLA-DRB1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.97 HLA-A HLA-B HLA-C HLA-DRB1 TAP1 TAP2
2 immune system process GO:0002376 9.95 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DRB1 TAP1
3 immune response GO:0006955 9.91 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
4 sodium ion transport GO:0006814 9.79 SCNN1A SCNN1B SCNN1G
5 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.79 HLA-DQA1 HLA-DQB1 HLA-DRB1
6 sodium ion transmembrane transport GO:0035725 9.77 SCNN1A SCNN1B SCNN1G
7 T cell costimulation GO:0031295 9.77 HLA-DQA1 HLA-DQB1 HLA-DRB1
8 type I interferon signaling pathway GO:0060337 9.75 HLA-A HLA-B HLA-C
9 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.72 HLA-A HLA-B HLA-C TAP1 TAP2
10 sensory perception of taste GO:0050909 9.71 SCNN1A SCNN1B SCNN1G
11 sodium ion homeostasis GO:0055078 9.65 SCNN1A SCNN1B SCNN1G
12 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.63 HLA-DQA1 HLA-DQB1 HLA-DRB1
13 peptide transport GO:0015833 9.61 TAP1 TAP2
14 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.61 HLA-A HLA-B HLA-C
15 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.58 TAP1 TAP2
16 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.57 TAP1 TAP2
17 protection from natural killer cell mediated cytotoxicity GO:0042270 9.56 HLA-A HLA-B
18 multicellular organismal water homeostasis GO:0050891 9.56 CFTR SCNN1A SCNN1B SCNN1G
19 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.55 HLA-DQB1 HLA-DRB1
20 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.55 HLA-A HLA-B HLA-C TAP1 TAP2
21 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.52 HLA-DQB1 HLA-DRB1
22 cytosol to ER transport GO:0046967 9.51 TAP1 TAP2
23 antigen processing and presentation GO:0019882 9.43 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
24 interferon-gamma-mediated signaling pathway GO:0060333 9.17 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.65 CFTR TAP1 TAP2
2 MHC protein binding GO:0042287 9.49 TAP1 TAP2
3 peptide-transporting ATPase activity GO:0015440 9.46 TAP1 TAP2
4 TAP1 binding GO:0046978 9.43 TAP1 TAP2
5 WW domain binding GO:0050699 9.43 SCNN1A SCNN1B SCNN1G
6 peptide antigen-transporting ATPase activity GO:0015433 9.4 TAP1 TAP2
7 peptide transmembrane transporter activity GO:1904680 9.37 TAP1 TAP2
8 MHC class II receptor activity GO:0032395 9.33 HLA-DQA1 HLA-DQB1 HLA-DRB1
9 MHC class Ib protein binding GO:0023029 9.32 TAP1 TAP2
10 peptide antigen binding GO:0042605 9.17 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
11 ligand-gated sodium channel activity GO:0015280 9.13 SCNN1A SCNN1B SCNN1G
12 protein binding GO:0005515 10.36 CFTR FLNB HLA-A HLA-B HLA-C HLA-DQA1

Sources for Idiopathic Bronchiectasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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