MCID: BRN076
MIFTS: 29

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 49 11 22 67 65
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 49
 
Cystic Fibrosis-Like Syndrome 67
Besc1 67

Characteristics:

HPO:

61
bronchiectasis with or without elevated sweat chloride 1:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 211400
MeSH36 D001987
UMLS65 C2749757

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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UniProtKB/Swiss-Prot:67 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 elevated sweat chloride, chronic bronchitis and bronchiectasis. 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:49 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 elevated sweat chloride HP:0012236
2 chronic bronchitis HP:0004469
3 bronchiectasis HP:0002110

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 122 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:

33
Lung

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

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:

67
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:

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

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:00550859.0CFTR, SCNN1B

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet