MCID: BRN075
MIFTS: 22

Bronchiectasis with or Without Elevated Sweat Chloride 2 malady

Genetic diseases (common) category

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 49 11 22 24 67
Cystic Fibrosis-Like Syndrome 22 67
 
Besc2 67


Classifications:



External Ids:

OMIM49 613021
MedGen34 C2751666
MeSH36 D001987

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

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UniProtKB/Swiss-Prot:67 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 cystic fibrosis and bronchiectasis with or without elevated sweat chloride 1, and has symptoms including elevated sweat chloride, autosomal dominant inheritance and bronchiectasis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (Sodium Channel, Non Voltage Gated 1 Alpha Subunit). Affiliated tissues include lung.

Description from OMIM:49 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
1cystic fibrosis10.2
2bronchiectasis with or without elevated sweat chloride 110.2
3bronchiectasis with or without elevated sweat chloride 310.2

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 autosomal dominant inheritance HP:0000006
3 bronchiectasis HP:0002110
4 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 222 24 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:

33
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:

67
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.1477T> C (p.Trp493Arg)single nucleotide variantPathogenicrs5742912GRCh37Chr 12, 6458350: 6458350
3SCNN1ANM_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
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