MCID: BRN145
MIFTS: 25

Bronchiectasis 3

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Bronchiectasis 3

MalaCards integrated aliases for Bronchiectasis 3:

Name: Bronchiectasis 3 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0080528

Summaries for Bronchiectasis 3

Disease Ontology : 12 A bronchiectasis that has material basis in mutation in the gene encoding the gamma subunit of the epithelial sodium channel.

MalaCards based summary : Bronchiectasis 3 is related to transsexualism and premenstrual tension. An important gene associated with Bronchiectasis 3 is SCN10A (Sodium Voltage-Gated Channel Alpha Subunit 10), and among its related pathways/superpathways are Carvedilol Pathway, Pharmacokinetics and Phenytoin Pathway, Pharmacokinetics. Affiliated tissues include lung.

Related Diseases for Bronchiectasis 3

Diseases in the Bronchiectasis family:

Bronchiectasis 1 Bronchiectasis 2
Bronchiectasis 3

Diseases related to Bronchiectasis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 transsexualism 10.0 CYP17A1 AR
2 premenstrual tension 10.0 GNRH1 CYP3A5
3 gender identity disorder 9.9 CYP17A1 AR
4 prostatic hyperplasia, benign 9.9 CYP17A1 AR
5 steroid inherited metabolic disorder 9.8 GNRH1 CYP17A1
6 outlet dysfunction constipation 9.8 LCT CYP3A4
7 clopidogrel resistance 9.8 CYP3A5 CYP3A4
8 leydig cell tumor 9.8 GNRH1 CYP17A1
9 proctitis 9.7 CYP3A5 CYP3A4
10 amelogenesis imperfecta, type ig 9.7 GNRH1 AR
11 hepatocellular adenoma 9.6 SLCO1B3 CYP3A4
12 gilbert syndrome 9.6 SLCO1B3 CYP3A4
13 stuttering 9.6 GNRH1 CYP17A1
14 pseudovaginal perineoscrotal hypospadias 9.6 GNRH1 CYP17A1 AR
15 sebaceous gland disease 9.6 GNRH1 CYP17A1 AR
16 disorders of sexual development 9.6 GNRH1 CYP17A1 AR
17 hyperandrogenism 9.5 GNRH1 CYP17A1 AR
18 46,xy sex reversal 9.5 GNRH1 CYP17A1 AR
19 intrahepatic cholestasis of pregnancy 9.5 SLCO1B3 CYP3A4 CYP17A1
20 premature ovarian failure 1 9.5 GNRH1 CYP17A1 AR
21 cryptorchidism, unilateral or bilateral 9.5 GNRH1 CYP17A1 AR
22 polycystic ovary syndrome 9.5 GNRH1 CYP17A1 AR
23 suppression of tumorigenicity 12 9.5 GNRH1 CYP17A1 AR
24 ovarian disease 9.4 GNRH1 CYP17A1 AR
25 varicocele 9.4 GNRH1 AR
26 sexual disorder 9.3 GNRH1 CYP3A4 AR
27 gynecomastia 9.3 GNRH1 CYP3A4 AR
28 impotence 9.3 GNRH1 CYP3A4 AR
29 osteoporosis 8.6 LCT GNRH1 CYP3A4 CYP17A1 AR

Graphical network of the top 20 diseases related to Bronchiectasis 3:



Diseases related to Bronchiectasis 3

Symptoms & Phenotypes for Bronchiectasis 3

Drugs & Therapeutics for Bronchiectasis 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Exercise Capacity in Patients With Cystic Fibrosis vs. Non-cystic Fibrosis Bronchiectasis Unknown status NCT03147651
2 Patterns of Physical Activity in a Healthy Population Aged Over 40 Years Old Completed NCT01758003

Search NIH Clinical Center for Bronchiectasis 3

Genetic Tests for Bronchiectasis 3

Anatomical Context for Bronchiectasis 3

MalaCards organs/tissues related to Bronchiectasis 3:

40
Lung

Publications for Bronchiectasis 3

Articles related to Bronchiectasis 3:

(show all 17)
# Title Authors PMID Year
1
Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy. 61
28479887 2016
2
Imaging of Cystic Fibrosis and Pediatric Bronchiectasis. 61
26901001 2016
3
Experiences and challenges of thorcoscopic lung surgery in the pediatric age group. 61
26475091 2015
4
[Etiology, clinical features, and diagnosis and treatment of recurrent hemoptysis in children]. 61
24661522 2014
5
Major respiratory adverse events after laparascopic gastric banding surgery for morbid obesity. 61
22673900 2012
6
Heterogeneity of bronchitis in airway diseases in tertiary care clinical practice. 61
21766077 2011
7
Tiotropium ameliorates symptoms in patients with chronic airway mucus hypersecretion which is resistant to macrolide therapy. 61
18379141 2008
8
The natural history of asthma in adults: the problem of irreversibility. 61
10199998 1999
9
["Primary" diffuse interstitial fibrosis in coal miners: a new entity? Study Group on Interstitial Pathology of the Society of Thoracic Pathology of the North]. 61
9411611 1997
10
[Outcomes of noninvasive positive-pressure ventilation in patients with acute hypercapnia complicating chronic respiratory failure]. 61
9396253 1997
11
[The selection of patients who are candidates for lung transplantation]. 61
8677046 1996
12
alpha 1-Antitrypsin deficiency in Indian patients with chronic obstructive airways and other pulmonary diseases. 61
7923455 1994
13
[Therapeutic efficacy of ceftibuten in chronic respiratory tract infections]. 61
2391748 1990
14
[Respiratory infections caused by Branhamella catarrhalis in 5 different hospitals]. 61
2120497 1990
15
[Clinical and ultrastructural study on primary ciliary dyskinesia]. 61
2355699 1990
16
Efficacy and pharmacokinetics of Timentin in paediatric infections. 61
3636339 1986
17
[Clinical experiences of lividomycin on respiratory tract infections (author's transl)]. 61
1041282 1975

Variations for Bronchiectasis 3

Expression for Bronchiectasis 3

Search GEO for disease gene expression data for Bronchiectasis 3.

Pathways for Bronchiectasis 3

Pathways related to Bronchiectasis 3 according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 SLCO1B3 CYP3A5 CYP3A4
2
Show member pathways
11.4 CYP3A5 CYP3A4
3
Show member pathways
11.37 CYP3A5 CYP3A4 CYP17A1
4
Show member pathways
11.35 CYP3A5 CYP3A4
5 11.28 CYP3A5 CYP3A4
6
Show member pathways
11.23 CYP3A5 CYP3A4 CYP17A1
7 11.22 CYP3A4 AR
8
Show member pathways
11.15 CYP3A5 CYP3A4
9
Show member pathways
11.15 SLCO1B3 CYP3A5 CYP3A4
10
Show member pathways
11.09 CYP3A5 CYP3A4
11 11.04 CYP3A5 CYP3A4
12
Show member pathways
10.98 SLCO2B1 SLCO1B3 CYP3A5 CYP3A4
13 10.91 SLCO1B3 CYP3A5 CYP3A4
14 10.89 CYP3A5 CYP3A4
15 10.79 SLCO2B1 CYP3A4
16 10.75 GNRH1 AR
17
Show member pathways
10.66 SLCO1B3 CYP3A5 CYP3A4
18 10.65 CYP3A5 CYP3A4
19 10.63 CYP3A5 CYP3A4
20 10.43 CYP3A5 CYP3A4

GO Terms for Bronchiectasis 3

Cellular components related to Bronchiectasis 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.13 SLCO2B1 LCT DLL1
2 organelle membrane GO:0031090 8.8 CYP3A5 CYP3A4 CYP17A1

Biological processes related to Bronchiectasis 3 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.67 GNRH1 DLL1 AR
2 retinol metabolic process GO:0042572 9.51 CYP3A5 CYP3A4
3 bile acid and bile salt transport GO:0015721 9.48 SLCO2B1 SLCO1B3
4 retinoic acid metabolic process GO:0042573 9.46 CYP3A5 CYP3A4
5 estrogen metabolic process GO:0008210 9.43 CYP3A5 CYP3A4
6 steroid metabolic process GO:0008202 9.43 CYP3A5 CYP3A4 CYP17A1
7 organic anion transport GO:0015711 9.4 SLCO2B1 SLCO1B3
8 sodium-independent organic anion transport GO:0043252 9.37 SLCO2B1 SLCO1B3
9 oxidative demethylation GO:0070989 9.32 CYP3A5 CYP3A4
10 lipid hydroxylation GO:0002933 9.16 CYP3A5 CYP3A4
11 drug catabolic process GO:0042737 8.96 CYP3A5 CYP3A4
12 alkaloid catabolic process GO:0009822 8.62 CYP3A5 CYP3A4

Molecular functions related to Bronchiectasis 3 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.65 CYP3A5 CYP3A4 CYP17A1
2 iron ion binding GO:0005506 9.63 CYP3A5 CYP3A4 CYP17A1
3 steroid hydroxylase activity GO:0008395 9.55 CYP3A5 CYP3A4
4 steroid binding GO:0005496 9.54 CYP3A4 AR
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen GO:0016712 9.52 CYP3A5 CYP3A4
6 aromatase activity GO:0070330 9.51 CYP3A5 CYP3A4
7 monooxygenase activity GO:0004497 9.5 CYP3A5 CYP3A4 CYP17A1
8 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.49 SLCO2B1 SLCO1B3
9 bile acid transmembrane transporter activity GO:0015125 9.43 SLCO2B1 SLCO1B3
10 organic anion transmembrane transporter activity GO:0008514 9.4 SLCO2B1 SLCO1B3
11 retinoic acid 4-hydroxylase activity GO:0008401 9.37 CYP3A5 CYP3A4
12 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.33 CYP3A5 CYP3A4 CYP17A1
13 estrogen 16-alpha-hydroxylase activity GO:0101020 9.26 CYP3A5 CYP3A4
14 testosterone 6-beta-hydroxylase activity GO:0050649 8.96 CYP3A5 CYP3A4
15 oxygen binding GO:0019825 8.8 CYP3A5 CYP3A4 CYP17A1

Sources for Bronchiectasis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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