MCID: BRN076
MIFTS: 27

Bronchiectasis with or Without Elevated Sweat Chloride 1 malady

Category: Genetic diseases (common)

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

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

Name: Bronchiectasis with or Without Elevated Sweat Chloride 1 50 23 68 12
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 50
 
Cystic Fibrosis-Like Syndrome 68
Besc1 68

Characteristics:

HPO:

62
bronchiectasis with or without elevated sweat chloride 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 211400
MeSH37 D001987

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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UniProtKB/Swiss-Prot:68 Bronchiectasis with or without elevated sweat chloride 1: A debilitating respiratory disease characterized by chronic, abnormal dilatation of the bronchi and other cystic fibrosis-like symptoms in the absence of known causes of bronchiectasis (cystic fibrosis, autoimmune diseases, ciliary dyskinesia, common variable immunodeficiency, foreign body obstruction). Clinical features include sub-normal lung function, sinopulmonary infections, chronic productive cough, excessive sputum production, and elevated sweat chloride in some cases.

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 bronchiectasis with or without elevated sweat chloride 3 and bronchiectasis with or without elevated sweat chloride 2, and has symptoms including bronchiectasis, chronic bronchitis and elevated sweat chloride. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways are ABC-family proteins mediated transport and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include lung.

Description from OMIM:50 211400

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1

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



Diseases related to bronchiectasis with or without elevated sweat chloride 1

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 bronchiectasis HP:0002110
2 chronic bronchitis HP:0004469
3 elevated sweat chloride HP:0012236

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

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

id Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 123 SCNN1B

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 1

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MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

34
Lung

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

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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:

68
id Symbol AA change Variation ID SNP ID
1SCNN1Bp.Ser82CysVAR_062401rs35731153
2SCNN1Bp.Pro267LeuVAR_062402rs137852709
3SCNN1Bp.Asn288SerVAR_062403rs137852712
4SCNN1Bp.Gly294SerVAR_062404rs72654338
5SCNN1Bp.Val348MetVAR_062405rs61759921
6SCNN1Bp.Pro369ThrVAR_062406rs137852711
7SCNN1Bp.Glu539LysVAR_062407rs137852710

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CFTRNM_000492.3(CFTR): c.3454G> C (p.Asp1152His)single nucleotide variantPathogenicrs75541969GRCh37Chr 7, 117254753: 117254753
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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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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1ABCC10, CFTR
2
Show member pathways
9.0CFTR, SCNN1B
39.0CFTR, SCNN1B
49.0CFTR, SCNN1B
5
Show member pathways
8.5ABCC10, CFTR, SCNN1B

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:00163249.0CFTR, SCNN1B
2lysosomal membraneGO:00057658.8ABCC10, 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:00550859.1ABCC10, CFTR

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

idNameGO IDScoreTop Affiliating Genes
1anion transmembrane-transporting ATPase activityGO:00432259.1ABCC10, CFTR

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet