BESC2
MCID: BRN075
MIFTS: 23

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 56 73 29 13 6 71
Cystic Fibrosis-Like Syndrome 56 73
Besc2 56 73
Bronchiectasis, with/without Elevated Sweat Chloride, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
bronchiectasis with or without elevated sweat chloride 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 613021
OMIM Phenotypic Series 56 PS211400
MeSH 43 D001987
MedGen 41 C2751666
SNOMED-CT via HPO 68 12295008 263681008 63480004
UMLS 71 C2751666

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 73 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 Subunit Alpha). Affiliated tissues include lung and kidney, 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:

31
# Description HPO Frequency HPO Source Accession
1 elevated sweat chloride 31 occasional (7.5%) HP:0012236
2 bronchiectasis 31 HP:0002110
3 chronic bronchitis 31 HP:0004469

Symptoms via clinical synopsis from OMIM:

56
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:

40
Lung, Kidney

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. 56 6
19462466 2009
2
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 56 6
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. 56
19017867 2009
4
Carbonic anhydrase XII functions in health and disease. 61
28433659 2017
5
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 61
16207733 2005
6
Cystic fibrosis and Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies in two siblings: a new syndrome? 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCNN1A NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile)SNV Pathogenic 9268 rs61759861 12:6483610-6483610 12:6374444-6374444
2 SCNN1A NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys)SNV Pathogenic 9270 rs61759860 12:6483709-6483709 12:6374543-6374543
3 SCNN1A NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys)SNV Uncertain significance 587487 rs1565475355 12:6458376-6458376 12:6349210-6349210
4 SCNN1A NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)SNV Uncertain significance 587486 rs141756749 12:6483565-6483565 12:6374399-6374399
5 SCNN1A NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)SNV Benign/Likely benign 9269 rs5742912 12:6458350-6458350 12:6349184-6349184

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

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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