BESC3
MCID: BRN077
MIFTS: 22

Bronchiectasis with or Without Elevated Sweat Chloride 3 (BESC3)

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 3

MalaCards integrated aliases for Bronchiectasis with or Without Elevated Sweat Chloride 3:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 3 57 72 29 13 6 70
Cystic Fibrosis-Like Syndrome 57 72
Besc3 57 72
Bronchiectasis, with/without Elevated Sweat Chloride, Type 3 39

Characteristics:

OMIM®:

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


HPO:

31
bronchiectasis with or without elevated sweat chloride 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613071
OMIM Phenotypic Series 57 PS211400
MeSH 44 D001987
MedGen 41 C2751324
SNOMED-CT via HPO 68 12295008 263681008 63480004
UMLS 70 C2751324

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 3

UniProtKB/Swiss-Prot : 72 Bronchiectasis with or without elevated sweat chloride 3: 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 3, 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 2. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 3 is SCNN1G (Sodium Channel Epithelial 1 Subunit Gamma). Affiliated tissues include kidney, and related phenotypes are bronchiectasis and chronic bronchitis

More information from OMIM: 613071 PS211400

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 3

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 3 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 11.5
2 bronchiectasis with or without elevated sweat chloride 2 11.5
3 liddle syndrome 1 10.0
4 cystic fibrosis 10.0
5 autosomal recessive disease 10.0
6 pseudohypoaldosteronism 10.0
7 kidney disease 10.0
8 cystic fibrosis and congenital absence of the vas deferens 10.0
9 idiopathic bronchiectasis 10.0

Graphical network of the top 20 diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 3:



Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 3

Symptoms & Phenotypes for Bronchiectasis with or Without Elevated Sweat Chloride 3

Human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

31
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 31 HP:0002110
2 chronic bronchitis 31 HP:0004469

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Lung:
bronchiectasis

Laboratory Abnormalities:
normal sweat chloride (3 of 3 patients)
increased nasal-potential difference (1 of 3 patients)

Respiratory Airways:
chronic bronchitis

Clinical features from OMIM®:

613071 (Updated 20-May-2021)

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 3

Search Clinical Trials , NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 3

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 3

Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

# Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 3 29 SCNN1G

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 3

MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

40
Kidney

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 3

Articles related to Bronchiectasis with or Without Elevated Sweat Chloride 3:

# Title Authors PMID Year
1
Could a defective epithelial sodium channel lead to bronchiectasis. 57 6
18507830 2008
2
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
3
Carbonic anhydrase XII functions in health and disease. 61
28433659 2017
4
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 61
16207733 2005
5
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 3

ClinVar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 3:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCNN1G NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) SNV Pathogenic 8829 rs5738 GRCh37: 16:23200963-23200963
GRCh38: 16:23189642-23189642
2 SCNN1G NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) SNV Pathogenic 8828 rs5736 GRCh37: 16:23200921-23200921
GRCh38: 16:23189600-23189600
3 SCNN1G NM_001039.4(SCNN1G):c.142dup (p.Arg48fs) Duplication Likely pathogenic 804476 rs1596760831 GRCh37: 16:23197731-23197732
GRCh38: 16:23186410-23186411
4 SCNN1G NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser) SNV Uncertain significance 318359 rs148985177 GRCh37: 16:23226429-23226429
GRCh38: 16:23215108-23215108
5 SCNN1G NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg) SNV Uncertain significance 318355 rs202142122 GRCh37: 16:23223365-23223365
GRCh38: 16:23212044-23212044
6 SCNN1G NM_001039.4(SCNN1G):c.1284C>T (p.His428=) SNV Uncertain significance 1034392 GRCh37: 16:23223462-23223462
GRCh38: 16:23212141-23212141
7 SCNN1G NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) SNV Uncertain significance 451433 rs144653364 GRCh37: 16:23226089-23226089
GRCh38: 16:23214768-23214768

Expression for Bronchiectasis with or Without Elevated Sweat Chloride 3

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 3.

Pathways for Bronchiectasis with or Without Elevated Sweat Chloride 3

GO Terms for Bronchiectasis with or Without Elevated Sweat Chloride 3

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 3

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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