BESC2
MCID: BRN075
MIFTS: 21

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 58 76 30 13 6 74
Cystic Fibrosis-Like Syndrome 58 76
Besc2 58 76
Bronchiectasis, with/without Elevated Sweat Chloride, Type 2 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bronchiectasis with or without elevated sweat chloride 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613021
MeSH 45 D001987
MedGen 43 C2751666
SNOMED-CT via HPO 70 12295008 263681008 63480004
UMLS 74 C2751666

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 76 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 elevated sweat chloride and bronchiectasis

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 12.0
2 bronchiectasis with or without elevated sweat chloride 3 11.9
3 cystic fibrosis 9.9

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

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

33
# Description HPO Frequency HPO Source Accession
1 elevated sweat chloride 33 occasional (7.5%) HP:0012236
2 bronchiectasis 33 HP:0002110
3 chronic bronchitis 33 HP:0004469

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
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 amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. ( 19462466 )
2009
2
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. ( 16207733 )
2005
3
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. ( 9654209 )
1998

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:

76
# 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
7 SCNN1A NM_001159576.1(SCNN1A): c.1628A> G (p.Tyr543Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6349210: 6349210
8 SCNN1A NM_001159576.1(SCNN1A): c.1628A> G (p.Tyr543Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 6458376: 6458376
9 SCNN1A NM_001159576.1(SCNN1A): c.562G> A (p.Ala188Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 6374399: 6374399
10 SCNN1A NM_001159576.1(SCNN1A): c.562G> A (p.Ala188Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 6483565: 6483565

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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