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

About this section

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

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 46 9 20 22


Classifications:



External Ids:

OMIM46 613021

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
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:46 613021

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

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

About this section

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

About this section

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

About this section

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

About this section

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

Variations for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section

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

63
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

About this section
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

About this section

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

About this section

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

About this section

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 2

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet