BESC1
MCID: BRN076
MIFTS: 35

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 testes, 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, Testes

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1

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

(show all 43)
# Title Authors Year
1
Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. ( 25981758 )
2015
2
∆F508 CFTR interactome remodelling promotes rescue of cystic fibrosis. ( 26618866 )
2015
3
Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. ( 24014130 )
2014
4
Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. ( 25431289 )
2014
5
A population-based study of autosomal-recessive disease-causing mutations in a founder population. ( 22981120 )
2012
6
Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. ( 22475884 )
2012
7
ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. ( 21422883 )
2011
8
Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. ( 20675678 )
2010
9
Peripheral protein quality control removes unfolded CFTR from the plasma membrane. ( 20595578 )
2010
10
Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. ( 20605539 )
2010
11
Cell Biology. The proteome in balance. ( 20705837 )
2010
12
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. ( 19888064 )
2009
13
Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. ( 19914443 )
2009
14
Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. ( 19914445 )
2009
15
Could a defective epithelial sodium channel lead to bronchiectasis. ( 18507830 )
2008
16
Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. ( 17761616 )
2007
17
Liquid movement across the surface epithelium of large airways. ( 17692578 )
2007
18
Fcgamma receptor IIA genotype and susceptibility to P. aeruginosa infection in patients with cystic fibrosis. ( 15367919 )
2005
19
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. ( 16207733 )
2005
20
Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. ( 15789152 )
2005
21
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. ( 14685937 )
2004
22
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing. ( 14993601 )
2004
23
Standards and guidelines for CFTR mutation testing. ( 12394352 )
2002
24
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. ( 11280952 )
2001
25
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes. ( 9439669 )
1997
26
Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. ( 8556303 )
1995
27
CFTR gene variant for patients with congenital absence of vas deferens. ( 7573058 )
1995
28
Analysis of linkage disequilibrium between different cystic fibrosis mutations and three intragenic microsatellites in the Italian population. ( 7537148 )
1995
29
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. ( 7684646 )
1993
30
A mutation in CFTR produces different phenotypes depending on chromosomal background. ( 7506096 )
1993
31
Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive. ( 1380673 )
1992
32
Cystic fibrosis mutations delta F508 and G542X in Jewish patients. ( 1377276 )
1992
33
Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. ( 1536179 )
1992
34
Mutation analysis of the cystic fibrosis transmembrane regulator gene in Native American populations of the southwest. ( 1384321 )
1992
35
Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. ( 1370875 )
1992
36
Frequency of the phenylalanine deletion (delta F508) in the CF gene of Belgian cystic fibrosis patients. ( 1673094 )
1991
37
A pooling strategy for heterozygote screening of the delta F508 cystic fibrosis mutation. ( 1997384 )
1991
38
Genetic epidemiology of cystic fibrosis in Saguenay-Lac-St-Jean (Quebec, Canada). ( 1756602 )
1991
39
Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. European Working Group on CF Genetics (EWGCFG). ( 2210767 )
1990
40
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. ( 2236053 )
1990
41
Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients. ( 2344617 )
1990
42
PCR test for cystic fibrosis deletion. ( 2300168 )
1990
43
Cystic fibrosis mutations in North American populations of French ancestry: analysis of Quebec French-Canadian and Louisiana Acadian families. ( 2220803 )
1990

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 289)
# Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
2 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh38 Chromosome 7, 117559592: 117559594
3 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
4 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
5 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh37 Chromosome 7, 117188849: 117188849
6 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh38 Chromosome 7, 117548795: 117548795
7 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
8 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh38 Chromosome 7, 117587778: 117587778
9 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh37 Chromosome 7, 117227855: 117227855
10 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh38 Chromosome 7, 117587801: 117587801
11 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
12 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh38 Chromosome 7, 117587806: 117587806
13 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
14 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh38 Chromosome 7, 117587811: 117587811
15 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
16 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh38 Chromosome 7, 117642566: 117642566
17 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh37 Chromosome 7, 117180284: 117180284
18 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh38 Chromosome 7, 117540230: 117540230
19 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh37 Chromosome 7, 117267579: 117267579
20 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh38 Chromosome 7, 117627525: 117627525
21 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh37 Chromosome 7, 117199600: 117199600
22 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh38 Chromosome 7, 117559546: 117559546
23 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
24 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh38 Chromosome 7, 117639961: 117639961
25 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
26 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh38 Chromosome 7, 117535285: 117535285
27 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh37 Chromosome 7, 117251761: 117251761
28 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh38 Chromosome 7, 117611707: 117611707
29 CFTR NM_000492.3(CFTR): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic,drug response rs121908753 GRCh37 Chromosome 7, 117180339: 117180339
30 CFTR NM_000492.3(CFTR): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic,drug response rs121908753 GRCh38 Chromosome 7, 117540285: 117540285
31 SCNN1B NM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs137852709 GRCh37 Chromosome 16, 23379200: 23379200
32 SCNN1B NM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs137852709 GRCh38 Chromosome 16, 23367879: 23367879
33 SCNN1B SCNN1B, IVS12AS, A-G, -2 single nucleotide variant Pathogenic
34 SCNN1B NM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser) single nucleotide variant Uncertain significance rs72654338 GRCh37 Chromosome 16, 23379280: 23379280
35 SCNN1B NM_000336.2(SCNN1B): c.880G> A (p.Gly294Ser) single nucleotide variant Uncertain significance rs72654338 GRCh38 Chromosome 16, 23367959: 23367959
36 SCNN1B NM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys) single nucleotide variant Pathogenic rs137852710 GRCh37 Chromosome 16, 23391814: 23391814
37 SCNN1B NM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys) single nucleotide variant Pathogenic rs137852710 GRCh38 Chromosome 16, 23380493: 23380493
38 SCNN1B NM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr) single nucleotide variant Pathogenic rs137852711 GRCh37 Chromosome 16, 23383157: 23383157
39 SCNN1B NM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr) single nucleotide variant Pathogenic rs137852711 GRCh38 Chromosome 16, 23371836: 23371836
40 SCNN1B NM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser) single nucleotide variant Pathogenic rs137852712 GRCh37 Chromosome 16, 23379263: 23379263
41 SCNN1B NM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser) single nucleotide variant Pathogenic rs137852712 GRCh38 Chromosome 16, 23367942: 23367942
42 SCNN1B NM_000336.2(SCNN1B): c.245C> G (p.Ser82Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs35731153 GRCh37 Chromosome 16, 23360165: 23360165
43 SCNN1B NM_000336.2(SCNN1B): c.245C> G (p.Ser82Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs35731153 GRCh38 Chromosome 16, 23348844: 23348844
44 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh37 Chromosome 12, 6458350: 6458350
45 SCNN1A NM_001038.5(SCNN1A): c.1477T> C (p.Trp493Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs5742912 GRCh38 Chromosome 12, 6349184: 6349184
46 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh37 Chromosome 7, 117246808: 117246808
47 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh38 Chromosome 7, 117606754: 117606754
48 CFTR NM_000492.3(CFTR): c.1367T> C (p.Val456Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922500 GRCh37 Chromosome 7, 117188852: 117188852
49 CFTR NM_000492.3(CFTR): c.1367T> C (p.Val456Ala) single nucleotide variant Pathogenic/Likely pathogenic rs193922500 GRCh38 Chromosome 7, 117548798: 117548798
50 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121908759 GRCh37 Chromosome 7, 117232086: 117232086

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

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
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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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