BESC2
MCID: BRN075
MIFTS: 19

Bronchiectasis with or Without Elevated Sweat Chloride 2 (BESC2) malady

Categories: Genetic diseases

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

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

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 54 24 66 29 13 69
Cystic Fibrosis-Like Syndrome 24 66
Besc2 66

Characteristics:

HPO:

32
bronchiectasis with or without elevated sweat chloride 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 613021
MedGen 40 C2751666
MeSH 42 D001987

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 66 Bronchiectasis with or without elevated sweat chloride 2: 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 2, also known as cystic fibrosis-like syndrome, is related to bronchiectasis with or without elevated sweat chloride 1 and bronchiectasis with or without elevated sweat chloride 3, and has symptoms including bronchiectasis, chronic bronchitis and elevated sweat chloride. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit). Affiliated tissues include lung.

Description from OMIM: 613021

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 2 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 11.1
2 bronchiectasis with or without elevated sweat chloride 3 11.1
3 cystic fibrosis 9.7

Symptoms & Phenotypes for Bronchiectasis with or Without Elevated Sweat Chloride 2

Symptoms by clinical synopsis from OMIM:

613021

Clinical features from OMIM:

613021

Human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

32
id Description HPO Frequency HPO Source Accession
1 bronchiectasis 32 HP:0002110
2 chronic bronchitis 32 HP:0004469
3 elevated sweat chloride 32 HP:0012236

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 2

Search Clinical Trials , NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 2

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 2

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 2 29 24 SCNN1A

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 2

MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

39
Lung

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

Variations for Bronchiectasis with or Without Elevated Sweat Chloride 2

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

66
id Symbol AA change Variation ID SNP ID
1 SCNN1A p.Phe61Leu VAR_060793 rs61758859
2 SCNN1A p.Val114Ile VAR_060794 rs61759861

ClinVar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1A NM_001038.5(SCNN1A): c.340G> A (p.Val114Ile) single nucleotide variant Pathogenic rs61759861 GRCh37 Chromosome 12, 6483610: 6483610
2 SCNN1A NM_001038.5(SCNN1A): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs61759860 GRCh37 Chromosome 12, 6483709: 6483709

Expression for 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 Bronchiectasis with or Without Elevated Sweat Chloride 2

GO Terms for Bronchiectasis with or Without Elevated Sweat Chloride 2

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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