BESC1
MCID: BRN076
MIFTS: 34

Bronchiectasis with or Without Elevated Sweat Chloride 1 (BESC1)

Categories: Genetic diseases, Respiratory 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 57 72 29 13 6 70
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 57 29 6
Cystic Fibrosis-Like Syndrome 57 72 6
Besc1 57 72
Bronchiectasis, with/without Elevated Sweat Chloride, Type 1, Modifier of 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
bronchiectasis with or without elevated sweat chloride 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 211400
OMIM Phenotypic Series 57 PS211400
MeSH 44 D001987
SNOMED-CT via HPO 68 12295008 263681008 63480004
UMLS 70 C2749757

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

UniProtKB/Swiss-Prot : 72 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 bronchiectasis with or without elevated sweat chloride 1, modifier of, is related to liddle syndrome 1 and cystic fibrosis. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 1 is SCNN1B (Sodium Channel Epithelial 1 Subunit Beta), and among its related pathways/superpathways are CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF) and NO-dependent CFTR activation (normal and CF). Affiliated tissues include kidney, and related phenotypes are elevated sweat chloride and bronchiectasis

More information from OMIM: 211400 PS211400

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:

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 CFTR SCNN1B
2 Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 29

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 1

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

40
Kidney

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1

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

(show all 37)
# Title Authors PMID Year
1
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 6 57 61
16207733 2005
2
Could a defective epithelial sodium channel lead to bronchiectasis. 57 6
18507830 2008
3
∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. 6
26618866 2015
4
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 6
25981758 2015
5
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
6
Cell Biology. The proteome in balance. 6
20705837 2010
7
Peripheral protein quality control removes unfolded CFTR from the plasma membrane. 6
20595578 2010
8
Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. 57
19017867 2009
9
Liquid movement across the surface epithelium of large airways. 6
17692578 2007
10
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. 6
15367919 2005
11
Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? 57
15151509 2004
12
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. 6
14993601 2004
13
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. 6
14685937 2004
14
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. 6
9439669 1997
15
CFTR gene variant for patients with congenital absence of vas deferens. 6
7573058 1995
16
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. 6
7537148 1995
17
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. 6
8556303 1995
18
A mutation in CFTR produces different phenotypes depending on chromosomal background. 6
7506096 1993
19
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. 6
7684646 1993
20
Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. 6
1384321 1992
21
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. 6
1380673 1992
22
Cystic fibrosis mutations delta F508 and G542X in Jewish patients. 6
1377276 1992
23
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. 6
1536179 1992
24
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. 6
1370875 1992
25
Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). 6
1756602 1991
26
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. 6
1673094 1991
27
A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation. 6
1997384 1991
28
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 6
2236053 1990
29
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. 6
2220803 1990
30
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). 6
2210767 1990
31
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. 6
2344617 1990
32
PCR test for cystic fibrosis deletion. 6
2300168 1990
33
Familial bronchiectasis. 57
6822919 1983
34
Familial middle lobe bronchiectasis. 57
759057 1979
35
Middle lobe bronchiectasis. Report of an unusual familial occurrence. 57
5006763 1967
36
Carbonic anhydrase XII functions in health and disease. 61
28433659 2017
37
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 1

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

6 (show top 50) (show all 126)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCNN1B NM_000336.3(SCNN1B):c.800C>T (p.Pro267Leu) SNV Pathogenic 8838 rs137852709 GRCh37: 16:23379200-23379200
GRCh38: 16:23367879-23367879
2 SCNN1B NM_000336.3(SCNN1B):c.1543-2A>G SNV Pathogenic 8839 rs1596894031 GRCh37: 16:23391740-23391740
GRCh38: 16:23380419-23380419
3 SCNN1B NM_000336.3(SCNN1B):c.880G>A (p.Gly294Ser) SNV Pathogenic 8840 rs72654338 GRCh37: 16:23379280-23379280
GRCh38: 16:23367959-23367959
4 SCNN1B NM_000336.3(SCNN1B):c.1615G>A (p.Glu539Lys) SNV Pathogenic 8841 rs137852710 GRCh37: 16:23391814-23391814
GRCh38: 16:23380493-23380493
5 SCNN1B NM_000336.3(SCNN1B):c.1105C>A (p.Pro369Thr) SNV Pathogenic 8842 rs137852711 GRCh37: 16:23383157-23383157
GRCh38: 16:23371836-23371836
6 SCNN1B NM_000336.3(SCNN1B):c.863A>G (p.Asn288Ser) SNV Pathogenic 8843 rs137852712 GRCh37: 16:23379263-23379263
GRCh38: 16:23367942-23367942
7 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
8 CFTR NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) SNV Pathogenic 35833 rs121908759 GRCh37: 7:117232086-117232086
GRCh38: 7:117592032-117592032
9 CFTR , LOC113664106 NM_000492.3(CFTR):c.178G>T (p.Glu60Ter) SNV Pathogenic 38730 rs77284892 GRCh37: 7:117149101-117149101
GRCh38: 7:117509047-117509047
10 CFTR NM_000492.3(CFTR):c.274-1G>A SNV Pathogenic 48680 rs121908792 GRCh37: 7:117170952-117170952
GRCh38: 7:117530898-117530898
11 CFTR NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) SNV Pathogenic 48688 rs77834169 GRCh37: 7:117171028-117171028
GRCh38: 7:117530974-117530974
12 CFTR NM_000492.4(CFTR):c.350G>A (p.Arg117His) SNV Pathogenic 7109 rs78655421 GRCh37: 7:117171029-117171029
GRCh38: 7:117530975-117530975
13 CFTR NM_000492.4(CFTR):c.489+1G>T SNV Pathogenic 38799 rs78756941 GRCh37: 7:117171169-117171169
GRCh38: 7:117531115-117531115
14 CFTR NM_000492.4(CFTR):c.532G>A (p.Gly178Arg) SNV Pathogenic 48692 rs80282562 GRCh37: 7:117174372-117174372
GRCh38: 7:117534318-117534318
15 CFTR NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) SNV Pathogenic 54007 rs397508759 GRCh37: 7:117174417-117174417
GRCh38: 7:117534363-117534363
16 CFTR NM_000492.3(CFTR):c.595C>T (p.His199Tyr) SNV Pathogenic 54018 rs121908802 GRCh37: 7:117175317-117175317
GRCh38: 7:117535263-117535263
17 CFTR NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) SNV Pathogenic 7190 rs121908752 GRCh37: 7:117175339-117175339
GRCh38: 7:117535285-117535285
18 CFTR , LOC111674472 NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) SNV Pathogenic 38728 rs121908761 GRCh37: 7:117251771-117251771
GRCh38: 7:117611717-117611717
19 CFTR NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter) SNV Pathogenic 7144 rs79850223 GRCh37: 7:117267579-117267579
GRCh38: 7:117627525-117627525
20 CFTR , LOC113633877 NM_000492.3(CFTR):c.3718-2477C>T SNV Pathogenic 7166 rs75039782 GRCh37: 7:117280015-117280015
GRCh38: 7:117639961-117639961
21 CFTR NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu) SNV Pathogenic 53797 rs267606723 GRCh37: 7:117282505-117282505
GRCh38: 7:117642451-117642451
22 CFTR NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) SNV Pathogenic 7129 rs77010898 GRCh37: 7:117282620-117282620
GRCh38: 7:117642566-117642566
23 CFTR NM_000492.4(CFTR):c.658C>T (p.Gln220Ter) SNV Pathogenic 54036 rs397508778 GRCh37: 7:117175380-117175380
GRCh38: 7:117535326-117535326
24 CFTR NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) SNV Pathogenic 7139 rs121909011 GRCh37: 7:117180284-117180284
GRCh38: 7:117540230-117540230
25 CFTR NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln) SNV Pathogenic 7198 rs121908753 GRCh37: 7:117180339-117180339
GRCh38: 7:117540285-117540285
26 CFTR , CFTR-AS1 NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) SNV Pathogenic 7111 rs74551128 GRCh37: 7:117188849-117188849
GRCh38: 7:117548795-117548795
27 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) SNV Pathogenic 7155 rs121909017 GRCh37: 7:117199600-117199600
GRCh38: 7:117559546-117559546
28 CFTR , LOC111674475 NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) SNV Pathogenic 7115 rs113993959 GRCh37: 7:117227832-117227832
GRCh38: 7:117587778-117587778
29 CFTR , LOC111674475 NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) SNV Pathogenic 40190 rs121909005 GRCh37: 7:117227855-117227855
GRCh38: 7:117587801-117587801
30 CFTR , LOC111674475 NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) SNV Pathogenic 7120 rs75527207 GRCh37: 7:117227860-117227860
GRCh38: 7:117587806-117587806
31 CFTR , LOC111674475 NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) SNV Pathogenic 7122 rs74597325 GRCh37: 7:117227865-117227865
GRCh38: 7:117587811-117587811
32 CFTR NM_000492.3(CFTR):c.1680-886A>G SNV Pathogenic 53338 rs397508266 GRCh37: 7:117229521-117229521
GRCh38: 7:117589467-117589467
33 CFTR NM_000492.3(CFTR):c.2051_2052delinsG (p.Lys684fs) Indel Pathogenic 35837 rs121908799 GRCh37: 7:117232272-117232273
GRCh38: 7:117592218-117592219
34 CFTR NM_000492.4(CFTR):c.2657+5G>A SNV Pathogenic 38497 rs80224560 GRCh37: 7:117242922-117242922
GRCh38: 7:117602868-117602868
35 CFTR NM_000492.3(CFTR):c.2988+1G>A SNV Pathogenic 7224 rs75096551 GRCh37: 7:117246808-117246808
GRCh38: 7:117606754-117606754
36 CFTR , LOC111674472 NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) SNV Pathogenic 7194 rs78802634 GRCh37: 7:117251761-117251761
GRCh38: 7:117611707-117611707
37 CFTR , CFTR-AS1 NM_000492.4(CFTR):c.1367T>C SNV Likely pathogenic 35821 rs193922500 GRCh37: 7:117188852-117188852
GRCh38: 7:117548798-117548798
38 CFTR NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) SNV Likely pathogenic 53606 rs397508464 GRCh37: 7:117170972-117170972
GRCh38: 7:117530918-117530918
39 BRWD1 NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu) SNV Likely pathogenic 982437 GRCh37: 21:40570769-40570769
GRCh38: 21:39198843-39198843
40 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) Deletion risk factor 7105 rs113993960 GRCh37: 7:117199645-117199647
GRCh38: 7:117559591-117559593
41 CFTR , CFTR-AS1 NM_000492.3(CFTR):c.1210-12T[5] Deletion risk factor 242535 rs1805177 GRCh37: 7:117188683-117188683
GRCh38: 7:117548629-117548630
42 USP11 NM_004651.3(USP11):c.1599G>A (p.Thr533=) SNV Likely pathogenic 635007 rs777516785 GRCh37: X:47101903-47101903
GRCh38: X:47242504-47242504
43 SCNN1B NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) SNV Conflicting interpretations of pathogenicity 8844 rs35731153 GRCh37: 16:23360165-23360165
GRCh38: 16:23348844-23348844
44 SCNN1B NM_000336.3(SCNN1B):c.*187G>A SNV Uncertain significance 318450 rs886051816 GRCh37: 16:23392309-23392309
GRCh38: 16:23380988-23380988
45 SCNN1B NM_000336.3(SCNN1B):c.1271-10T>C SNV Uncertain significance 318436 rs886051814 GRCh37: 16:23388476-23388476
GRCh38: 16:23377155-23377155
46 SCNN1B NM_000336.3(SCNN1B):c.753C>T (p.Phe251=) SNV Uncertain significance 318425 rs748167291 GRCh37: 16:23366787-23366787
GRCh38: 16:23355466-23355466
47 SCNN1B NM_000336.3(SCNN1B):c.1404+15G>A SNV Uncertain significance 318438 rs886051815 GRCh37: 16:23388722-23388722
GRCh38: 16:23377401-23377401
48 SCNN1B NM_000336.3(SCNN1B):c.159C>T (p.Phe53=) SNV Uncertain significance 318418 rs749106839 GRCh37: 16:23360079-23360079
GRCh38: 16:23348758-23348758
49 SCNN1B NM_000336.3(SCNN1B):c.*94G>A SNV Uncertain significance 318449 rs72654359 GRCh37: 16:23392216-23392216
GRCh38: 16:23380895-23380895
50 SCNN1B NM_000336.3(SCNN1B):c.561C>T (p.His187=) SNV Uncertain significance 318423 rs773448523 GRCh37: 16:23364371-23364371
GRCh38: 16:23353050-23353050

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

72
# 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

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

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

# Super pathways Score Top Affiliating Genes
1 10.5 SCNN1B CFTR
2 9.74 SCNN1B CFTR

GO Terms for Bronchiectasis with or Without Elevated Sweat Chloride 1

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 multicellular organismal water homeostasis GO:0050891 8.62 SCNN1B CFTR

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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