MCID: IDP074
MIFTS: 38

Idiopathic Bronchiectasis

Categories: Rare diseases, Respiratory 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 bronchiectasis and asthma. An important gene associated with Idiopathic Bronchiectasis is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include neutrophil, lung and heart, 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 101)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis 30.0 CFTR SCNN1A SCNN1B SCNN1G
2 asthma 29.3 CFTR HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
3 cystic fibrosis 29.0 CFTR SCNN1A SCNN1B SCNN1G
4 phenytoin or carbamazepine toxicity 10.3 HLA-A HLA-B
5 atrial tachyarrhythmia with short pr interval 10.3 HLA-A HLA-B
6 achalasia, familial esophageal 10.2 HLA-DQA1 HLA-DQB1
7 limbic encephalitis with lgi1 antibodies 10.2 HLA-DQB1 HLA-DRB1
8 microscopic polyangiitis 10.2 HLA-B HLA-DRB1
9 narcolepsy 2 10.2 HLA-DQB1 HLA-DRB1
10 autoimmune polyglandular syndrome type 3 10.2 HLA-DQB1 HLA-DRB1
11 idiopathic inflammatory myopathy 10.2 HLA-B HLA-DRB1
12 hypersomnia 10.2 HLA-DQB1 HLA-DRB1
13 metal allergy 10.2 HLA-DQB1 HLA-DRB1
14 lichen planopilaris 10.2 HLA-DQB1 HLA-DRB1
15 anterior uveitis 10.2 HLA-A HLA-B
16 type ii mixed cryoglobulinemia 10.2 HLA-DQB1 HLA-DRB1
17 recurrent respiratory papillomatosis 10.2 HLA-DQB1 HLA-DRB1
18 human herpesvirus 8 10.2 HLA-A HLA-B HLA-C
19 narcolepsy 1 10.2 HLA-DQB1 HLA-DRB1
20 hirata disease 10.2 HLA-DQA1 HLA-DRB1
21 chronic pyelonephritis 10.2 HLA-A HLA-B
22 refractory celiac disease 10.2 HLA-DQB1 IFNG
23 postherpetic neuralgia 10.2 HLA-A HLA-B HLA-DRB1
24 severe cutaneous adverse reaction 10.2 HLA-A HLA-B HLA-C
25 pars planitis 10.2 HLA-A HLA-B HLA-DRB1
26 lichen sclerosus 10.1 HLA-DQB1 HLA-DRB1
27 pure red-cell aplasia 10.1 HLA-A HLA-B HLA-DRB1
28 berylliosis 10.1 HLA-DRB1 IFNG
29 whipple disease 10.1 HLA-DQB1 HLA-DRB1
30 dermatitis herpetiformis 10.1 HLA-A HLA-DQA1 HLA-DQB1
31 bare lymphocyte syndrome, type i 10.1 TAP1 TAP2
32 cardiac sarcoidosis 10.1 HLA-DQB1 IFNG
33 herpes zoster 10.1 HLA-A HLA-B IFNG
34 sympathetic ophthalmia 10.1 HLA-C HLA-DQA1 HLA-DRB1
35 rheumatic heart disease 10.1 HLA-B HLA-DQA1 HLA-DRB1
36 pediatric multiple sclerosis 10.1 HLA-DQB1 HLA-DRB1
37 beryllium disease 10.1 HLA-DQA1 HLA-DQB1 HLA-DRB1
38 echinococcosis 10.1 HLA-B HLA-DRB1 IFNG
39 immunodeficiency by defective expression of hla class 1 10.1 TAP1 TAP2
40 autoimmune hepatitis 10.1 HLA-A HLA-DQB1 HLA-DRB1
41 oligoarticular juvenile idiopathic arthritis 10.1 HLA-DQA1 HLA-DQB1 HLA-DRB1
42 focal epithelial hyperplasia 10.1 HLA-DQA1 HLA-DQB1 HLA-DRB1
43 alopecia areata 10.1 HLA-A HLA-DQA1 IFNG
44 microscopic colitis 10.1 HLA-DQB1 HLA-DRB1
45 eosinophilia-myalgia syndrome 10.1 HLA-DQA1 HLA-DRB1 IFNG
46 chronic beryllium disease 10.1 HLA-DQB1 HLA-DRB1 IFNG
47 osteonecrosis of the jaw 10.1 HLA-DQB1 HLA-DRB1
48 peanut allergy 10.1 HLA-DQB1 HLA-DRB1 IFNG
49 toxoplasmosis 10.1 HLA-DQA1 HLA-DQB1 IFNG
50 bare lymphocyte syndrome, type ii 10.1 HLA-A HLA-DQB1 TAP2

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-A HLA-B HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.71 HLA-A HLA-B HLA-C HLA-DQA1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.71 HLA-A HLA-B 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-A HLA-B 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-A HLA-B HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.71 HLA-A HLA-B HLA-C HLA-DQA1
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-A HLA-B 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-A HLA-B 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-A HLA-B 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 CFTR CXCR1 HLA-DQB1 IFNG SCNN1A SCNN1B
3 respiratory system MP:0005388 9.17 CFTR FLNB HLA-DQB1 IFNG SCNN1A SCNN1B

Drugs & Therapeutics for Idiopathic Bronchiectasis

Search Clinical Trials , 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, Heart, Tongue

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 41)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 CXCR1 FLNB HLA-A HLA-B HLA-C HLA-DQA1
2
Show member pathways
13.32 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
3
Show member pathways
13.21 FLNB HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1
4
Show member pathways
12.94 HLA-A HLA-B HLA-C TAP1 TAP2
5
Show member pathways
12.89 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
6
Show member pathways
12.76 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
7
Show member pathways
12.56 CFTR SCNN1A SCNN1B SCNN1G
8
Show member pathways
12.52 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
9
Show member pathways
12.5 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
10
Show member pathways
12.49 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
11
Show member pathways
12.42 FLNB HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1
12
Show member pathways
12.4 HLA-A HLA-B HLA-C IFNG
13
Show member pathways
12.37 HLA-A HLA-B HLA-C TAP1 TAP2
14 12.34 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
15 12.31 CXCR1 HLA-A HLA-B HLA-C
16
Show member pathways
12.17 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
17
Show member pathways
12.16 HLA-A HLA-B HLA-C IFNG
18 12.15 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
19
Show member pathways
12.1 HLA-DQA1 HLA-DQB1 HLA-DRB1
20 12.07 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
21 12.06 HLA-A HLA-B HLA-C
22 11.98 HLA-A HLA-B HLA-C
23
Show member pathways
11.92 SCNN1A SCNN1B SCNN1G
24
Show member pathways
11.87 HLA-A HLA-DRB1 IFNG
25 11.86 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
26
Show member pathways
11.85 HLA-DQA1 HLA-DQB1 HLA-DRB1
27 11.83 HLA-DQA1 HLA-DQB1 HLA-DRB1
28 11.82 HLA-DQA1 HLA-DQB1 HLA-DRB1
29 11.79 HLA-DQA1 HLA-DQB1 HLA-DRB1
30 11.77 HLA-DQA1 HLA-DQB1 HLA-DRB1 IFNG
31 11.64 HLA-DQA1 HLA-DQB1 HLA-DRB1
32 11.53 HLA-DQA1 HLA-DQB1 HLA-DRB1
33 11.41 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
34 11.32 SCNN1A SCNN1B SCNN1G
35 11.32 CFTR SCNN1A SCNN1B SCNN1G
36 11.31 HLA-B IFNG TAP1
37 11.19 SCNN1A SCNN1B SCNN1G
38 11.15 HLA-DRB1 IFNG
39 11.13 HLA-DRB1 IFNG
40 11.05 HLA-A HLA-B HLA-C TAP1 TAP2
41 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 28)
# 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 external side of plasma membrane GO:0009897 9.94 CXCR1 HLA-DRB1 SCNN1B SCNN1G
3 apical plasma membrane GO:0016324 9.93 CFTR SCNN1A SCNN1B SCNN1G
4 lysosomal membrane GO:0005765 9.92 CFTR HLA-DQA1 HLA-DQB1 HLA-DRB1
5 endosome membrane GO:0010008 9.88 CFTR HLA-DQA1 HLA-DQB1 HLA-DRB1
6 early endosome membrane GO:0031901 9.83 CFTR HLA-A HLA-B HLA-C
7 secretory granule membrane GO:0030667 9.8 CXCR1 HLA-B HLA-C
8 trans-Golgi network membrane GO:0032588 9.79 HLA-DQA1 HLA-DQB1 HLA-DRB1
9 endocytic vesicle membrane GO:0030666 9.76 HLA-DQA1 HLA-DQB1 HLA-DRB1
10 transport vesicle membrane GO:0030658 9.72 HLA-DQA1 HLA-DQB1 HLA-DRB1
11 recycling endosome membrane GO:0055038 9.71 CFTR HLA-A HLA-B HLA-C
12 clathrin-coated endocytic vesicle membrane GO:0030669 9.69 HLA-DQA1 HLA-DQB1 HLA-DRB1
13 MHC class II protein complex GO:0042613 9.61 HLA-DQA1 HLA-DQB1 HLA-DRB1
14 MHC class I peptide loading complex GO:0042824 9.56 TAP1 TAP2
15 phagocytic vesicle membrane GO:0030670 9.55 HLA-A HLA-B HLA-C TAP1 TAP2
16 TAP complex GO:0042825 9.54 TAP1 TAP2
17 MHC class I protein complex GO:0042612 9.54 HLA-A HLA-B HLA-C
18 sodium channel complex GO:0034706 9.5 SCNN1A SCNN1B SCNN1G
19 ER to Golgi transport vesicle membrane GO:0012507 9.43 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
20 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
21 membrane GO:0016020 10.42 CFTR CXCR1 HLA-A HLA-B HLA-C HLA-DQA1
22 plasma membrane GO:0005886 10.27 CFTR CXCR1 FLNB HLA-A HLA-B HLA-C
23 extracellular exosome GO:0070062 10.19 FLNB HLA-A HLA-B HLA-C HLA-DRB1 SCNN1A
24 integral component of plasma membrane GO:0005887 10.11 CFTR HLA-A HLA-B HLA-DQA1 SCNN1A SCNN1B
25 integral component of membrane GO:0016021 10.1 CFTR CXCR1 FLNB HLA-A HLA-B HLA-C
26 endoplasmic reticulum membrane GO:0005789 10.08 CFTR HLA-A HLA-DQA1 HLA-DRB1 TAP1 TAP2
27 endoplasmic reticulum GO:0005783 10.06 CFTR HLA-A HLA-B HLA-C HLA-DQA1 HLA-DRB1
28 cell surface GO:0009986 10.02 CFTR HLA-A HLA-B HLA-C HLA-DRB1

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.97 CXCR1 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1
2 viral process GO:0016032 9.93 HLA-B HLA-DRB1 TAP1 TAP2
3 sodium ion transport GO:0006814 9.8 SCNN1A SCNN1B SCNN1G
4 T cell receptor signaling pathway GO:0050852 9.79 HLA-DQA1 HLA-DQB1 HLA-DRB1
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 type I interferon signaling pathway GO:0060337 9.76 HLA-A HLA-B HLA-C
8 sensory perception of taste GO:0050909 9.72 SCNN1A SCNN1B SCNN1G
9 positive regulation of T cell mediated cytotoxicity GO:0001916 9.69 HLA-A HLA-B HLA-C
10 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 9.67 HLA-DQA1 HLA-DQB1 HLA-DRB1
11 sodium ion homeostasis GO:0055078 9.65 SCNN1A SCNN1B SCNN1G
12 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.65 HLA-A HLA-B HLA-C TAP1 TAP2
13 multicellular organismal water homeostasis GO:0050891 9.62 CFTR SCNN1A SCNN1B SCNN1G
14 peptide transport GO:0015833 9.61 TAP1 TAP2
15 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.61 HLA-A HLA-B HLA-C
16 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.59 TAP1 TAP2
17 vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane GO:1990668 9.58 TAP1 TAP2
18 antigen processing and presentation of endogenous peptide antigen via MHC class Ib GO:0002476 9.58 HLA-A HLA-B HLA-C
19 humoral immune response mediated by circulating immunoglobulin GO:0002455 9.57 HLA-DQB1 HLA-DRB1
20 protection from natural killer cell mediated cytotoxicity GO:0042270 9.56 HLA-A HLA-B
21 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.55 HLA-A HLA-B HLA-C TAP1 TAP2
22 immunoglobulin production involved in immunoglobulin mediated immune response GO:0002381 9.54 HLA-DQB1 HLA-DRB1
23 cytosol to ER transport GO:0046967 9.52 TAP1 TAP2
24 antigen processing and presentation GO:0019882 9.43 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
25 interferon-gamma-mediated signaling pathway GO:0060333 9.17 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
26 immune system process GO:0002376 10 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DRB1 TAP1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.61 CFTR TAP1 TAP2
2 MHC protein binding GO:0042287 9.48 TAP1 TAP2
3 peptide transmembrane transporter activity GO:1904680 9.46 TAP1 TAP2
4 WW domain binding GO:0050699 9.43 SCNN1A SCNN1B SCNN1G
5 TAP1 binding GO:0046978 9.4 TAP1 TAP2
6 MHC class Ib protein binding GO:0023029 9.37 TAP1 TAP2
7 MHC class II receptor activity GO:0032395 9.33 HLA-DQA1 HLA-DQB1 HLA-DRB1
8 peptide antigen-transporting ATPase activity GO:0015433 9.32 TAP1 TAP2
9 peptide antigen binding GO:0042605 9.17 HLA-A HLA-B HLA-C HLA-DQA1 HLA-DQB1 HLA-DRB1
10 ligand-gated sodium channel activity GO:0015280 9.13 SCNN1A SCNN1B SCNN1G

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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