MCID: BRN076
MIFTS: 28

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 52 24 70 27 12 68
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 52
 
Cystic Fibrosis-Like Syndrome 70
Besc1 70

Characteristics:

HPO:

64
bronchiectasis with or without elevated sweat chloride 1:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 211400
MeSH39 D001987

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

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UniProtKB/Swiss-Prot:70 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include lung.

Description from OMIM:52 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
1bronchiectasis with or without elevated sweat chloride 330.6CFTR, SCNN1B
2bronchiectasis with or without elevated sweat chloride 211.2
3cystic fibrosis9.7
4hyperuricemic nephropathy, familial juvenile 19.5CFTR, SCNN1B
5congenital bilateral absence of vas deferens9.5CFTR, SCNN1B
6aseptic osteitis9.5CFTR, SCNN1B

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 & Phenotypes 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

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

 64
id Description HPO Frequency HPO Source Accession
1 bronchiectasis64 HP:0002110
2 chronic bronchitis64 HP:0004469
3 elevated sweat chloride64 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 127 24 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:

36
Lung

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:

70
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)SNVPathogenicrs75541969GRCh37Chr 7, 117254753: 117254753
2CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenic, drug responsers113993960GRCh37Chr 7, 117199646: 117199648
3CFTRNM_000492.3(CFTR): c.1210-12_1210-6T[5]short repeatPathogenic, risk factorrs727504486GRCh37Chr 7, 117188683: 117188689
4SCNN1BNM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu)SNVPathogenicrs137852709GRCh37Chr 16, 23379200: 23379200
5SCNN1BSCNN1B, IVS12AS, A-G, -2SNVPathogenicChr na, -1: -1
6SCNN1BNM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser)SNVPathogenicrs72654338GRCh37Chr 16, 23379280: 23379280
7SCNN1BNM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys)SNVPathogenicrs137852710GRCh37Chr 16, 23391814: 23391814
8SCNN1BNM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr)SNVPathogenicrs137852711GRCh37Chr 16, 23383157: 23383157
9SCNN1BNM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser)SNVPathogenicrs137852712GRCh37Chr 16, 23379263: 23379263

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
9.1CFTR, SCNN1B
29.1CFTR, SCNN1B
39.1CFTR, 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:00163249.1CFTR, SCNN1B

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet