MCID: BRN076
MIFTS: 22

Bronchiectasis with or Without Elevated Sweat Chloride 1 malady

Genetic diseases (common) category

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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MalaCards based summary: Bronchiectasis with or Without Elevated Sweat Chloride 1, also known as bronchiectasis with or without elevated sweat chloride 1, modifier of, is related to cystic fibrosis and bronchiectasis, and has symptoms including autosomal dominant inheritance, bronchiectasis and chronic bronchitis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (sodium channel, non-voltage-gated 1, beta subunit), and among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The compounds sodium and amiloride have been mentioned in the context of this disorder. Related mouse phenotypes are normal and respiratory system.

Description from OMIM:45 211400

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

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Bronchiectasis with or Without Elevated Sweat Chloride 1, Aliases & Descriptions:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 1 45 10
 
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 211400

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1

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Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cystic fibrosis10.2CFTR
2bronchiectasis10.1CFTR
3liddle syndrome9.9SCNN1B, CFTR
4pseudohypoaldosteronism9.8SCNN1B, CFTR

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 1

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Symptoms by clinical synopsis from OMIM:

211400

Clinical features from OMIM:

211400

HPO human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 bronchiectasis HP:0002110
3 chronic bronchitis HP:0004469
4 elevated sweat chloride HP:0012236

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

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Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 1

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028739.1SCNN1B, CFTR
2MP:00053889.0SCNN1B, CFTR
3MP:00053818.8SCNN1B, 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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UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1:

62
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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SCNN1BNM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu)single nucleotide variantPathogenicrs137852709GRCh37Chr 16, 23379200: 23379200
2SCNN1BSCNN1B, IVS12AS, A-G, -2single nucleotide variantPathogenic
3SCNN1BNM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser)single nucleotide variantPathogenicrs72654338GRCh37Chr 16, 23379280: 23379280
4SCNN1BNM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys)single nucleotide variantPathogenicrs137852710GRCh37Chr 16, 23391814: 23391814
5SCNN1BNM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr)single nucleotide variantPathogenicrs137852711GRCh37Chr 16, 23383157: 23383157
6SCNN1BNM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser)single nucleotide variantPathogenicrs137852712GRCh37Chr 16, 23379263: 23379263
7SCNN1BNM_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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Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 1.

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

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Pathways related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1SCNN1B, CFTR
2
Show member pathways
9.1SCNN1B, CFTR
39.1SCNN1B, CFTR
49.1SCNN1B, CFTR

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

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1sodium43 2410.1SCNN1B, CFTR
2amiloride43 28 1210.8SCNN1B, CFTR

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

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Cellular components related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.1SCNN1B, CFTR

Biological processes related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:00550859.1SCNN1B, CFTR

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet