MCID: BRN076
MIFTS: 30

Bronchiectasis with or Without Elevated Sweat Chloride 1

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 54 24 71 29 13 69
Bronchiectasis with or Without Elevated Sweat Chloride 1, Modifier of 54
Cystic Fibrosis-Like Syndrome 71
Besc1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
bronchiectasis with or without elevated sweat chloride 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 211400
MeSH 42 D001987
SNOMED-CT via HPO 65 263681008 12295008 63480004

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 1

UniProtKB/Swiss-Prot : 71 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 bronchiectasis with or without elevated sweat chloride 3 and bronchiectasis with or without elevated sweat chloride 2, and has symptoms including elevated sweat chloride, bronchiectasis and chronic bronchitis. 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 CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include lung.

Description from OMIM: 211400

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 1

Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 bronchiectasis with or without elevated sweat chloride 3 31.0 CFTR SCNN1B
2 bronchiectasis with or without elevated sweat chloride 2 11.2
3 cystic fibrosis 9.7
4 mazabraud syndrome 9.5 CFTR SCNN1B
5 venezuelan equine encephalitis 9.4 CFTR SCNN1B
6 congenital bilateral absence of vas deferens 9.2 CFTR SCNN1B

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

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
normal exocrine pancreatic function
increased nasal-potential difference (some)
elevated sweat chloride (some)

Respiratory- Airways:
chronic bronchitis

Respiratory- Lung:
bronchiectasis


Clinical features from OMIM:

211400

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

32
id 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

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:

id Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 1 29 24 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:

39
Lung

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 1

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:

71
id 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
id 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.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh37 Chromosome 7, 117188683: 117188689
3 SCNN1B NM_000336.2(SCNN1B): c.800C> T (p.Pro267Leu) single nucleotide variant Pathogenic rs137852709 GRCh37 Chromosome 16, 23379200: 23379200
4 SCNN1B SCNN1B, IVS12AS, A-G, -2 single nucleotide variant Pathogenic
5 SCNN1B NM_000336.2(SCNN1B): c.1615G> A (p.Glu539Lys) single nucleotide variant Pathogenic rs137852710 GRCh37 Chromosome 16, 23391814: 23391814
6 SCNN1B NM_000336.2(SCNN1B): c.1105C> A (p.Pro369Thr) single nucleotide variant Pathogenic rs137852711 GRCh37 Chromosome 16, 23383157: 23383157
7 SCNN1B NM_000336.2(SCNN1B): c.863A> G (p.Asn288Ser) single nucleotide variant Pathogenic rs137852712 GRCh37 Chromosome 16, 23379263: 23379263
8 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.75 CFTR SCNN1B
2 10.5 CFTR SCNN1B
3 9.74 CFTR SCNN1B

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:

id Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 CFTR SCNN1B

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

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.96 CFTR SCNN1B
2 multicellular organismal water homeostasis GO:0050891 8.62 CFTR SCNN1B

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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