MCID: BRN075
MIFTS: 35

Bronchiectasis with or Without Elevated Sweat Chloride 2 malady

Genetic diseases, Respiratory diseases, Rare diseases categories
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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, also known as idiopathic bronchiectasis, is related to bronchiectasis and cystic fibrosis, and has symptoms including An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (sodium channel, non-voltage-gated 1 alpha subunit), and among its related pathways are Ion channel transport and G-Beta Gamma Signaling. The compounds actinomycin d and triamterene have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and respiratory system.

Descriptions from OMIM:46 613021,613071,211400

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

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Sources:
20GeneTests, 22GTR, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

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

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 20 22 46
 
Idiopathic Bronchiectasis 48 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


External Ids:

ICD10 via Orphanet26 J47
UMLS via Orphanet63 C0339985

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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis31.3CFTR
2cystic fibrosis30.5CFTR
3asthma10.1
4pseudohypoaldosteronism type 19.8SCNN1B, SCNN1A
5liddle syndrome9.6SCNN1G, SCNN1A, SCNN1B
6hypertension9.5SCNN1G, SCNN1A, SCNN1B
7pseudohypoaldosteronism9.4CFTR, SCNN1B, SCNN1A, SCNN1G

Graphical network of diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 2:



Diseases related to bronchiectasis with or without elevated sweat chloride 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:

613021,613071,211400

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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MGI Mouse Phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.2SCNN1B, SCNN1A, SCNN1G
2MP:00053888.1SCNN1G, SCNN1A, SCNN1B, CFTR
3MP:00028738.1CFTR, SCNN1B, SCNN1A, SCNN1G
4MP:00053788.0CFTR, SCNN1B, SCNN1A, SCNN1G
5MP:00107688.0SCNN1G, SCNN1A, SCNN1B, CFTR
6MP:00053767.9SCNN1G, SCNN1A, SCNN1B, CFTR

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:

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 2

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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Pathways related to Bronchiectasis with or Without Elevated Sweat Chloride 2 according to GeneCards/GeneDecks:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
2
Show member pathways
8.5SCNN1G, SCNN1A, SCNN1B
3
Show member pathways
8.5SCNN1G, SCNN1A, SCNN1B
4
Show member pathways
8.5SCNN1G, SCNN1A, SCNN1B
5
Show member pathways
8.5SCNN1B, SCNN1A, SCNN1G
68.5SCNN1G, SCNN1A, SCNN1B
78.5SCNN1G, SCNN1A, SCNN1B
8
Show member pathways
8.0CFTR, SCNN1B, SCNN1A, SCNN1G
98.0CFTR, SCNN1B, SCNN1A, SCNN1G
10
Show member pathways
8.0SCNN1G, SCNN1A, SCNN1B, CFTR
118.0SCNN1G, SCNN1A, SCNN1B, CFTR

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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Bronchiectasis with or Without Elevated Sweat Chloride 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1actinomycin d449.4SCNN1A, CFTR
2triamterene44 24 1110.4SCNN1B, SCNN1A, SCNN1G
3amiloride44 28 1110.0SCNN1G, SCNN1A, SCNN1B, CFTR
4sodium44 248.7SCNN1G, SCNN1A, SCNN1B, CFTR

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

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Cellular components related to Bronchiectasis with or Without Elevated Sweat Chloride 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:0347068.6SCNN1G, SCNN1A, SCNN1B
2external side of plasma membraneGO:0098978.5SCNN1G, SCNN1A, SCNN1B
3extracellular vesicular exosomeGO:0700628.5SCNN1G, SCNN1A, SCNN1B
4integral component of plasma membraneGO:0058878.2SCNN1G, SCNN1A, SCNN1B
5apical plasma membraneGO:0163248.1CFTR, SCNN1B, SCNN1A, SCNN1G
6plasma membraneGO:0058867.9CFTR, SCNN1B, SCNN1A, SCNN1G

Biological processes related to Bronchiectasis with or Without Elevated Sweat Chloride 2 according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1multicellular organismal water homeostasisGO:0508918.7SCNN1G, SCNN1A, SCNN1B
2sodium ion homeostasisGO:0550788.7SCNN1G, SCNN1A, SCNN1B
3sensory perception of tasteGO:0509098.7SCNN1B, SCNN1A, SCNN1G
4excretionGO:0075888.6SCNN1G, SCNN1A, SCNN1B
5response to stimulusGO:0508968.6SCNN1B, SCNN1A, SCNN1G
6sodium ion transportGO:0068148.5SCNN1G, SCNN1A, SCNN1B
7ion transmembrane transportGO:0342208.5SCNN1G, SCNN1A, SCNN1B
8sodium ion transmembrane transportGO:0357258.4SCNN1G, SCNN1A, SCNN1B
9transmembrane transportGO:0550857.7CFTR, SCNN1B, SCNN1A, SCNN1G

Molecular functions related to Bronchiectasis with or Without Elevated Sweat Chloride 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:0152808.4SCNN1G, SCNN1A, SCNN1B
2WW domain bindingGO:0506998.2SCNN1B, SCNN1A, SCNN1G
3protein bindingGO:0055158.0SCNN1G, SCNN1A, SCNN1B, CFTR

Products 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet