MCID: BRN077
MIFTS: 17

Bronchiectasis with or Without Elevated Sweat Chloride 3 malady

Category: Genetic diseases (common)

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Aliases & Descriptions for Bronchiectasis with or Without Elevated Sweat Chloride 3:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 3 49 11 22 67 24 65
Cystic Fibrosis-Like Syndrome 67
 
Besc3 67

Characteristics:

HPO:

61
bronchiectasis with or without elevated sweat chloride 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 613071
MedGen34 C2751324
MeSH36 D001987
UMLS65 C2751324

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 3

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UniProtKB/Swiss-Prot:67 Bronchiectasis with or without elevated sweat chloride 3: 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 3, also known as cystic fibrosis-like syndrome, is related to bronchiectasis with or without elevated sweat chloride 2 and bronchiectasis with or without elevated sweat chloride 1, and has symptoms including bronchiectasisand chronic bronchitis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 3 is SCNN1G (Sodium Channel Epithelial 1 Gamma Subunit). Affiliated tissues include lung.

Description from OMIM:49 613071

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 3 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis with or without elevated sweat chloride 211.4
2bronchiectasis with or without elevated sweat chloride 111.2
3cystic fibrosis9.9

Symptoms for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Symptoms by clinical synopsis from OMIM:

613071

Clinical features from OMIM:

613071

HPO human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

id Description Frequency HPO Source Accession
1 bronchiectasis HP:0002110
2 chronic bronchitis HP:0004469

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 3

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

id Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 322 SCNN1G

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 3

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MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

33
Lung

Animal Models for Bronchiectasis with or Without Elevated Sweat Chloride 3 or affiliated genes

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Publications for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Variations for Bronchiectasis with or Without Elevated Sweat Chloride 3

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Clinvar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SCNN1GNM_001039.3(SCNN1G): c.547G> A (p.Gly183Ser)single nucleotide variantPathogenicrs5736GRCh37Chr 16, 23200921: 23200921
2SCNN1GNM_001039.3(SCNN1G): c.589G> A (p.Glu197Lys)single nucleotide variantPathogenicrs5738GRCh37Chr 16, 23200963: 23200963

Expression for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 3.

Pathways for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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GO Terms for genes affiliated with Bronchiectasis with or Without Elevated Sweat Chloride 3

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Sources for Bronchiectasis with or Without Elevated Sweat Chloride 3

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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