MCID: BRN078
MIFTS: 32

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

Genetic diseases, Respiratory diseases, Rare diseases categories

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

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48OMIM, 34MalaCards
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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:48 211400,613021,613071

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

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48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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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 48
idiopathic bronchiectasis 50 63


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ICD10 via Orphanet27 J47
SNOMED-CT via Orphanet60 233629001
UMLS via Orphanet64 C0339985

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

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18GeneCards, 19GeneDecks
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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,...

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48OMIM
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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,...

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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

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

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

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

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

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38MGI
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MGI Mouse Phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

38
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,...

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

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of:

65
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,...

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2BioGPS, 16Gene Expression Omnibus DataSets
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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,...

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51PathCards, 31KEGG, 56Reactome, 54QIAGEN, 13EMD Millipore, 52PharmGKB, 61Thomson Reuters
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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,...

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46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR
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Compounds related to Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actinomycin d469.1SCNN1A, CFTR
2triamterene46 25 1210.4SCNN1B, SCNN1A, SCNN1G
3amiloride46 30 1210.0SCNN1G, SCNN1A, SCNN1B, CFTR
4sodium46 258.7SCNN1G, SCNN1A, SCNN1B, CFTR

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

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17Gene Ontology
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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,...

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet