BESC2
MCID: BRN075
MIFTS: 20

Bronchiectasis with or Without Elevated Sweat Chloride 2 (BESC2)

Categories: Genetic diseases

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

MalaCards integrated aliases for Bronchiectasis with or Without Elevated Sweat Chloride 2:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 57 75 29 13 6 73
Cystic Fibrosis-Like Syndrome 57 75
Besc2 57 75
Bronchiectasis, with/without Elevated Sweat Chloride, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 613021
MedGen 42 C2751666
MeSH 44 D001987
SNOMED-CT via HPO 69 263681008 12295008 63480004
UMLS 73 C2751666

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 75 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. 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, and related phenotypes are bronchiectasis and chronic bronchitis

Description from OMIM: 613021

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

Diseases in the Bronchiectasis with or Without Elevated Sweat Chloride 1 family:

Bronchiectasis with or Without Elevated Sweat Chloride 2 Bronchiectasis with or Without Elevated Sweat Chloride 3

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

# Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 1 11.9
2 bronchiectasis with or without elevated sweat chloride 3 11.8
3 cystic fibrosis 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
bronchiectasis

Laboratory Abnormalities:
elevated sweat chloride (some)
increased nasal-potential difference (some)
normal exocrine pancreatic function

Respiratory Airways:
chronic bronchitis


Clinical features from OMIM:

613021

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

32
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 32 HP:0002110
2 chronic bronchitis 32 HP:0004469
3 elevated sweat chloride 32 occasional (7.5%) 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:

# Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 2 29 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:

41
Lung

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

Articles related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

# Title Authors Year
1
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. ( 16207733 )
2005

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:

75
# 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
# 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.340G> A (p.Val114Ile) single nucleotide variant Pathogenic rs61759861 GRCh38 Chromosome 12, 6374444: 6374444
3 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh37 Chromosome 12, 6458350: 6458350
4 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh38 Chromosome 12, 6349184: 6349184
5 SCNN1A NM_001038.5(SCNN1A): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs61759860 GRCh37 Chromosome 12, 6483709: 6483709
6 SCNN1A NM_001038.5(SCNN1A): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs61759860 GRCh38 Chromosome 12, 6374543: 6374543

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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