MCID: BRN078
MIFTS: 32

Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of malady

Genetic diseases, Respiratory diseases, Rare diseases categories
Download this MalaCard

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
MalaCards: Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of, also known as idiopathic bronchiectasis, is related to bronchiectasis and cystic fibrosis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)), and among its related pathways are Taste transduction and G-Beta Gamma Signaling. The compounds actinomycin d and triamterene have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and respiratory system.

Description from OMIM:47 211400,613021,613071

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


Aliases & Descriptions:

bronchiectasis with or without elevated sweat chloride 1, modifier of 47
idiopathic bronchiectasis 49 62


External Ids:

ICD10 via Orphanet26 J47
SNOMED-CT via Orphanet59 233629001
UMLS via Orphanet63 C0339985

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis31.0CFTR
2cystic fibrosis30.2CFTR
3asthma10.1
4autosomal recessive pseudohypoaldosteronism type 110.0SCNN1B, SCNN1A
5pseudohypoaldosteronism type 19.9SCNN1B, SCNN1A, SCNN1G
6liddle syndrome9.9SCNN1G, SCNN1A, SCNN1B
7hypertension9.9SCNN1G, SCNN1A, SCNN1B
8pseudohypoaldosteronism9.9CFTR, SCNN1B, SCNN1A, SCNN1G

Graphical network of diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:



Diseases related to bronchiectasis with or without elevated sweat chloride 1, modifier of

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

211400

Clinical features from OMIM:

211400,613021,613071

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of

Search NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section

Animal Models for Bronchiectasis with or Without Elevated Sweat Chloride 1,... or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2SCNN1B, SCNN1A, SCNN1G
2MP:00053888.1SCNN1G, SCNN1A, SCNN1B, CFTR
3MP:00028738.1CFTR, SCNN1B, SCNN1A, SCNN1G
4MP:00053788.0CFTR, SCNN1B, SCNN1A, SCNN1G
5MP:00107688.0SCNN1G, SCNN1A, SCNN1B, CFTR
6MP:00053767.9SCNN1G, SCNN1A, SCNN1B, CFTR

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section

Variations for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

64
id Symbol AA change Variation ID SNP ID
1SCNN1Bp.Ser82CysVAR_062401rs35731153
2SCNN1Bp.Pro267LeuVAR_062402
3SCNN1Bp.Asn288SerVAR_062403
4SCNN1Bp.Gly294SerVAR_062404
5SCNN1Bp.Val348MetVAR_062405
6SCNN1Bp.Pro369ThrVAR_062406
7SCNN1Bp.Glu539LysVAR_062407

Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

1
id Gene Name Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenic, risk factorrs113993960GRCh37Chr 7, 117199646: 117199648
2SCNN1BNM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu)single nucleotide variantPathogenicrs137852709GRCh37Chr 16, 23379200: 23379200
3SCNN1BSCNN1B, IVS12AS, A-G, -2single nucleotide variantPathogenic
4SCNN1BNM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser)single nucleotide variantPathogenicrs72654338GRCh37Chr 16, 23379280: 23379280
5SCNN1BNM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys)single nucleotide variantPathogenicrs137852710GRCh37Chr 16, 23391814: 23391814
6SCNN1BNM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr)single nucleotide variantPathogenicrs137852711GRCh37Chr 16, 23383157: 23383157
7SCNN1BNM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser)single nucleotide variantPathogenicrs137852712GRCh37Chr 16, 23379263: 23379263
8SCNN1BNM_000336.2(SCNN1B): c.245C> G (p.Ser82Cys)single nucleotide variantPathogenicrs35731153GRCh37Chr 16, 23360165: 23360165

Expression for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of.

Pathways for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
50PathCards, 30KEGG, 55Reactome, 53QIAGEN, 12EMD Millipore, 51PharmGKB, 60Thomson Reuters
See all sources

Pathways related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5SCNN1B, SCNN1G, SCNN1A
2
Show member pathways
8.5SCNN1G, SCNN1A, SCNN1B
3
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
4
Show member pathways
8.5SCNN1A, SCNN1B, SCNN1G
58.5SCNN1G, SCNN1A, SCNN1B
6
Show member pathways
8.5SCNN1G, SCNN1B, SCNN1A
78.5SCNN1G, SCNN1B, SCNN1A
8
Show member pathways
8.0SCNN1G, SCNN1A, SCNN1B, CFTR
98.0SCNN1G, SCNN1A, SCNN1B, CFTR
10
Show member pathways
8.0SCNN1G, CFTR, SCNN1B, SCNN1A
118.0CFTR, SCNN1B, SCNN1A, SCNN1G

Compounds for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
See all sources

Compounds related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actinomycin d459.1SCNN1A, CFTR
2triamterene45 24 1110.4SCNN1B, SCNN1A, SCNN1G
3amiloride45 29 1110.0SCNN1G, SCNN1A, SCNN1B, CFTR
4sodium45 248.7SCNN1G, SCNN1A, SCNN1B, CFTR

GO Terms for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347068.6SCNN1G, SCNN1A, SCNN1B
2external side of plasma membraneGO:0098978.5SCNN1G, SCNN1A, SCNN1B
3extracellular vesicular exosomeGO:0700628.5SCNN1G, SCNN1A, SCNN1B
4integral component of plasma membraneGO:0058878.2SCNN1G, SCNN1A, SCNN1B
5apical plasma membraneGO:0163248.1CFTR, SCNN1B, SCNN1A, SCNN1G
6plasma membraneGO:0058867.9CFTR, SCNN1B, SCNN1A, SCNN1G

Biological processes related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508918.7SCNN1G, SCNN1A, SCNN1B
2sodium ion homeostasisGO:0550788.7SCNN1G, SCNN1A, SCNN1B
3sensory perception of tasteGO:0509098.7SCNN1B, SCNN1A, SCNN1G
4excretionGO:0075888.6SCNN1G, SCNN1A, SCNN1B
5response to stimulusGO:0508968.6SCNN1B, SCNN1A, SCNN1G
6sodium ion transportGO:0068148.5SCNN1G, SCNN1A, SCNN1B
7ion transmembrane transportGO:0342208.5SCNN1G, SCNN1A, SCNN1B
8sodium ion transmembrane transportGO:0357258.4SCNN1G, SCNN1A, SCNN1B
9transmembrane transportGO:0550857.7CFTR, SCNN1B, SCNN1A, SCNN1G

Molecular functions related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:0152808.4SCNN1A, SCNN1B, SCNN1G
2WW domain bindingGO:0506998.2SCNN1A, SCNN1G, SCNN1B
3protein bindingGO:0055158.0CFTR, SCNN1B, SCNN1A, SCNN1G

Products for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1,...

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet