BESC2
MCID: BRN075
MIFTS: 24

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 74 29 13 6 72
Cystic Fibrosis-Like Syndrome 57 74
Besc2 57 74
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:

MeSH 44 D001987
MedGen 42 C2751666
UMLS 72 C2751666

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 74 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

More information from OMIM: 613021 PS211400

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 12.1
2 bronchiectasis with or without elevated sweat chloride 3 12.0
3 liddle syndrome 1 9.9
4 cystic fibrosis 9.9
5 autosomal recessive disease 9.9
6 pseudohypoaldosteronism 9.9
7 kidney disease 9.9
8 cystic fibrosis and congenital absence of the vas deferens 9.9
9 idiopathic bronchiectasis 9.9

Graphical network of the top 20 diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 2:



Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 2

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

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

32
# Description HPO Frequency HPO Source Accession
1 elevated sweat chloride 32 occasional (7.5%) HP:0012236
2 bronchiectasis 32 HP:0002110
3 chronic bronchitis 32 HP:0004469

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

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 PMID Year
1
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. 8 71
19462466 2009
2
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 8 71
9654209 1998
3
Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. 8
19017867 2009
4
Carbonic anhydrase XII functions in health and disease. 38
28433659 2017
5
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 38
16207733 2005
6
Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome? 38
2029916 1991

Variations for Bronchiectasis with or Without Elevated Sweat Chloride 2

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCNN1A NM_001038.6(SCNN1A): c.340G> A (p.Val114Ile) single nucleotide variant Pathogenic rs61759861 12:6483610-6483610 12:6374444-6374444
2 SCNN1A NM_001038.6(SCNN1A): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs61759860 12:6483709-6483709 12:6374543-6374543
3 SCNN1A NM_001038.6(SCNN1A): c.1451A> G (p.Tyr484Cys) single nucleotide variant Uncertain significance 12:6458376-6458376 12:6349210-6349210
4 SCNN1A NM_001038.6(SCNN1A): c.385G> A (p.Ala129Thr) single nucleotide variant Uncertain significance 12:6483565-6483565 12:6374399-6374399
5 SCNN1A NM_001038.6(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Benign/Likely benign rs5742912 12:6458350-6458350 12:6349184-6349184

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

74
# Symbol AA change Variation ID SNP ID
1 SCNN1A p.Phe61Leu VAR_060793 rs61758859
2 SCNN1A p.Val114Ile VAR_060794 rs61759861

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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