BESC1
MCID: BRN076
MIFTS: 30

Bronchiectasis with or Without Elevated Sweat Chloride 1 (BESC1)

Categories: Genetic diseases

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 1

MalaCards integrated aliases for Bronchiectasis with or Without Elevated Sweat Chloride 1:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 1 58 76 30 13 6 74
Cystic Fibrosis-Like Syndrome 58 76 6
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 58 6
Besc1 58 76
Bronchiectasis, with/without Elevated Sweat Chloride, Type 1, Modifier of 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bronchiectasis with or without elevated sweat chloride 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 211400
MeSH 45 D001987
SNOMED-CT via HPO 70 12295008 263681008 63480004
UMLS 74 C2749757

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

UniProtKB/Swiss-Prot : 76 Bronchiectasis with or without elevated sweat chloride 1: 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 1, also known as cystic fibrosis-like syndrome, is related to bronchiectasis with or without elevated sweat chloride 2 and cystic fibrosis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (Sodium Channel Epithelial 1 Beta Subunit), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Taste transduction. Affiliated tissues include lung, and related phenotypes are elevated sweat chloride and bronchiectasis

Description from OMIM: 211400

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1

Graphical network of the top 20 diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1:



Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1

Symptoms & Phenotypes for Bronchiectasis with or Without Elevated Sweat Chloride 1

Human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

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:

211400

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 1

Search Clinical Trials , NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 1

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 1

Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

# Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 1 30 CFTR SCNN1B

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 1

MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

42
Lung

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1

Articles related to Bronchiectasis with or Without Elevated Sweat Chloride 1:

# 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 1

UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1:

76
# Symbol AA change Variation ID SNP ID
1 SCNN1B p.Ser82Cys VAR_062401 rs35731153
2 SCNN1B p.Pro267Leu VAR_062402 rs137852709
3 SCNN1B p.Asn288Ser VAR_062403 rs137852712
4 SCNN1B p.Gly294Ser VAR_062404 rs72654338
5 SCNN1B p.Val348Met VAR_062405 rs61759921
6 SCNN1B p.Pro369Thr VAR_062406 rs137852711
7 SCNN1B p.Glu539Lys VAR_062407 rs137852710

ClinVar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 1:

6 (show top 50) (show all 217)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1A NM_001038.5(SCNN1A): c.1000G> A (p.Ala334Thr) single nucleotide variant Benign rs11542844 GRCh37 Chromosome 12, 6464581: 6464581
2 SCNN1A NM_001038.5(SCNN1A): c.1000G> A (p.Ala334Thr) single nucleotide variant Benign rs11542844 GRCh38 Chromosome 12, 6355415: 6355415
3 SCNN1A NM_001038.5(SCNN1A): c.1987A> G (p.Thr663Ala) single nucleotide variant Benign rs2228576 GRCh37 Chromosome 12, 6457062: 6457062
4 SCNN1A NM_001038.5(SCNN1A): c.1987A> G (p.Thr663Ala) single nucleotide variant Benign rs2228576 GRCh38 Chromosome 12, 6347896: 6347896
5 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh37 Chromosome 16, 23360199: 23360199
6 SCNN1B NM_000336.2(SCNN1B): c.279T> C (p.Pro93=) single nucleotide variant Benign rs238547 GRCh38 Chromosome 16, 23348878: 23348878
7 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh38 Chromosome 16, 23375806: 23375806
8 SCNN1B NM_000336.2(SCNN1B): c.1221A> G (p.Pro407=) single nucleotide variant Likely benign rs2303156 GRCh37 Chromosome 16, 23387127: 23387127
9 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh38 Chromosome 16, 23377219: 23377219
10 SCNN1B NM_000336.2(SCNN1B): c.1325G> T (p.Gly442Val) single nucleotide variant Benign rs1799980 GRCh37 Chromosome 16, 23388540: 23388540
11 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh37 Chromosome 16, 23391401: 23391401
12 SCNN1B NM_000336.2(SCNN1B): c.1467-14G> A single nucleotide variant Benign rs34618783 GRCh38 Chromosome 16, 23380080: 23380080
13 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh38 Chromosome 16, 23367958: 23367958
14 SCNN1B NM_000336.2(SCNN1B): c.879C> T (p.Phe293=) single nucleotide variant Benign rs250563 GRCh37 Chromosome 16, 23379279: 23379279
15 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh37 Chromosome 16, 23388704: 23388704
16 SCNN1B NM_000336.2(SCNN1B): c.1401C> T (p.Ser467=) single nucleotide variant Benign/Likely benign rs74012901 GRCh38 Chromosome 16, 23377383: 23377383
17 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh37 Chromosome 16, 23391964: 23391964
18 SCNN1B NM_000336.2(SCNN1B): c.1765G> A (p.Gly589Ser) single nucleotide variant Likely benign rs61759926 GRCh38 Chromosome 16, 23380643: 23380643
19 SCNN1A NM_001038.5(SCNN1A): c.1853G> T (p.Cys618Phe) single nucleotide variant Benign rs3741913 GRCh37 Chromosome 12, 6457196: 6457196
20 SCNN1A NM_001038.5(SCNN1A): c.1853G> T (p.Cys618Phe) single nucleotide variant Benign rs3741913 GRCh38 Chromosome 12, 6348030: 6348030
21 SCNN1A NM_001038.5(SCNN1A): c.540G> T (p.Leu180=) single nucleotide variant Benign/Likely benign rs55859427 GRCh37 Chromosome 12, 6472753: 6472753
22 SCNN1A NM_001038.5(SCNN1A): c.540G> T (p.Leu180=) single nucleotide variant Benign/Likely benign rs55859427 GRCh38 Chromosome 12, 6363587: 6363587
23 SCNN1A NM_001038.5(SCNN1A): c.541C> T (p.Arg181Trp) single nucleotide variant Benign/Likely benign rs55797039 GRCh37 Chromosome 12, 6472752: 6472752
24 SCNN1A NM_001038.5(SCNN1A): c.541C> T (p.Arg181Trp) single nucleotide variant Benign/Likely benign rs55797039 GRCh38 Chromosome 12, 6363586: 6363586
25 CFTR NM_000492.3(CFTR): c.1210-12T[5] short repeat risk factor rs1805177 GRCh37 Chromosome 7, 117188683: 117188683
26 CFTR NM_000492.3(CFTR): c.1210-12T[5] short repeat risk factor rs1805177 GRCh38 Chromosome 7, 117548629: 117548629
27 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
28 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh38 Chromosome 7, 117559592: 117559594
29 SCNN1B NM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs137852709 GRCh37 Chromosome 16, 23379200: 23379200
30 SCNN1B NM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs137852709 GRCh38 Chromosome 16, 23367879: 23367879
31 SCNN1B SCNN1B, IVS12AS, A-G, -2 single nucleotide variant Pathogenic
32 SCNN1B NM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser) single nucleotide variant Uncertain significance rs72654338 GRCh37 Chromosome 16, 23379280: 23379280
33 SCNN1B NM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser) single nucleotide variant Uncertain significance rs72654338 GRCh38 Chromosome 16, 23367959: 23367959
34 SCNN1B NM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys) single nucleotide variant Pathogenic rs137852710 GRCh37 Chromosome 16, 23391814: 23391814
35 SCNN1B NM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys) single nucleotide variant Pathogenic rs137852710 GRCh38 Chromosome 16, 23380493: 23380493
36 SCNN1B NM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr) single nucleotide variant Pathogenic rs137852711 GRCh37 Chromosome 16, 23383157: 23383157
37 SCNN1B NM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr) single nucleotide variant Pathogenic rs137852711 GRCh38 Chromosome 16, 23371836: 23371836
38 SCNN1B NM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser) single nucleotide variant Pathogenic rs137852712 GRCh37 Chromosome 16, 23379263: 23379263
39 SCNN1B NM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser) single nucleotide variant Pathogenic rs137852712 GRCh38 Chromosome 16, 23367942: 23367942
40 SCNN1B NM_000336.2(SCNN1B): c.245C> G (p.Ser82Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs35731153 GRCh37 Chromosome 16, 23360165: 23360165
41 SCNN1B NM_000336.2(SCNN1B): c.245C> G (p.Ser82Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs35731153 GRCh38 Chromosome 16, 23348844: 23348844
42 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh37 Chromosome 12, 6458350: 6458350
43 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh38 Chromosome 12, 6349184: 6349184
44 CFTR NM_000492.3(CFTR): c.2002C> T (p.Arg668Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800100 GRCh37 Chromosome 7, 117232223: 117232223
45 CFTR NM_000492.3(CFTR): c.2002C> T (p.Arg668Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800100 GRCh38 Chromosome 7, 117592169: 117592169
46 CFTR NM_000492.3(CFTR): c.2421A> G (p.Ile807Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1800103 GRCh37 Chromosome 7, 117232642: 117232642
47 CFTR NM_000492.3(CFTR): c.2421A> G (p.Ile807Met) single nucleotide variant Conflicting interpretations of pathogenicity rs1800103 GRCh38 Chromosome 7, 117592588: 117592588
48 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant drug response rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
49 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant drug response rs75541969 GRCh38 Chromosome 7, 117614699: 117614699
50 CFTR NM_000492.3(CFTR): c.91C> T (p.Arg31Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs1800073 GRCh37 Chromosome 7, 117144344: 117144344

Expression for Bronchiectasis with or Without Elevated Sweat Chloride 1

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 1.

Pathways for Bronchiectasis with or Without Elevated Sweat Chloride 1

GO Terms for Bronchiectasis with or Without Elevated Sweat Chloride 1

Cellular components related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.13 CFTR SCNN1A SCNN1B
2 sodium channel complex GO:0034706 8.62 SCNN1A SCNN1B

Biological processes related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.5 CFTR SCNN1A SCNN1B
2 sodium ion transport GO:0006814 9.37 SCNN1A SCNN1B
3 sodium ion transmembrane transport GO:0035725 9.26 SCNN1A SCNN1B
4 sensory perception of taste GO:0050909 9.16 SCNN1A SCNN1B
5 sodium ion homeostasis GO:0055078 8.96 SCNN1A SCNN1B
6 multicellular organismal water homeostasis GO:0050891 8.8 CFTR SCNN1A SCNN1B

Molecular functions related to Bronchiectasis with or Without Elevated Sweat Chloride 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 8.96 SCNN1A SCNN1B
2 ligand-gated sodium channel activity GO:0015280 8.62 SCNN1A SCNN1B

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

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17 EFO
18 ExPASy
20 FMA
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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