MCID: BRN075
MIFTS: 19

Bronchiectasis with or Without Elevated Sweat Chloride 2 malady

Category: Genetic diseases (common)

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 2

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Aliases & Descriptions for Bronchiectasis with or Without Elevated Sweat Chloride 2:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 50 23 68 25 12
Cystic Fibrosis-Like Syndrome 23 68
 
Besc2 68

Characteristics:

HPO:

62
bronchiectasis with or without elevated sweat chloride 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 613021
MedGen35 C2751666
MeSH37 D001987

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

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UniProtKB/Swiss-Prot:68 Bronchiectasis with or without elevated sweat chloride 2: 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 2, also known as cystic fibrosis-like syndrome, is related to bronchiectasis with or without elevated sweat chloride 1 and bronchiectasis with or without elevated sweat chloride 3, and has symptoms including elevated sweat chloride, bronchiectasis and chronic bronchitis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit). Affiliated tissues include lung.

Description from OMIM:50 613021

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

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Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis with or without elevated sweat chloride 111.2
2bronchiectasis with or without elevated sweat chloride 311.2
3cystic fibrosis9.8

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 2

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Symptoms by clinical synopsis from OMIM:

613021

Clinical features from OMIM:

613021

HPO human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

id Description Frequency HPO Source Accession
1 elevated sweat chloride rare (5%) HP:0012236
2 bronchiectasis HP:0002110
3 chronic bronchitis HP:0004469

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 2

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 2

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Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

id Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 225 23 SCNN1A

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 2

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MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

34
Lung

Animal Models for Bronchiectasis with or Without Elevated Sweat Chloride 2 or affiliated genes

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Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

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Variations for Bronchiectasis with or Without Elevated Sweat Chloride 2

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UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

68
id Symbol AA change Variation ID SNP ID
1SCNN1Ap.Phe61LeuVAR_060793rs61758859
2SCNN1Ap.Val114IleVAR_060794rs61759861

Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SCNN1ANM_001038.5(SCNN1A): c.340G> A (p.Val114Ile)single nucleotide variantPathogenicrs61759861GRCh37Chr 12, 6483610: 6483610
2SCNN1ANM_001038.5(SCNN1A): c.241C> T (p.Arg81Cys)single nucleotide variantPathogenicrs61759860GRCh37Chr 12, 6483709: 6483709

Expression for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

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Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 2.

Pathways for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

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GO Terms for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

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Sources for Bronchiectasis with or Without Elevated Sweat Chloride 2

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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