MCID: BRN075
MIFTS: 13

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

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 45 10 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 613021

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

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MalaCards based summary: Bronchiectasis with or Without Elevated Sweat Chloride 2 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).

Description from OMIM:45 613021

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

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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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Drug clinical trials:

Search ClinicalTrials for Bronchiectasis with or Without Elevated Sweat Chloride 2

Search 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 220 22 SCNN1A

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 2

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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:

62
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:

6
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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Compounds 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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Products for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet