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 52 24 70 27 12 68
Cystic Fibrosis-Like Syndrome 70
 
Besc3 70

Characteristics:

HPO:

64
bronchiectasis with or without elevated sweat chloride 3:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 613071
MedGen37 C2751324
MeSH39 D001987

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 3

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UniProtKB/Swiss-Prot:70 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 bronchiectasis and 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:52 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 211.2
2bronchiectasis with or without elevated sweat chloride 111.1
3cystic fibrosis9.7

Symptoms & Phenotypes 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

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

 64
id Description HPO Frequency HPO Source Accession
1 bronchiectasis64 HP:0002110
2 chronic bronchitis64 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 327 24 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:

36
Lung

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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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet