BESC2
MCID: BRN075
MIFTS: 26

Bronchiectasis with or Without Elevated Sweat Chloride 2 (BESC2)

Categories: Genetic diseases, Respiratory diseases

Aliases & Classifications for Bronchiectasis with or Without Elevated Sweat Chloride 2

MalaCards integrated aliases for Bronchiectasis with or Without Elevated Sweat Chloride 2:

Name: Bronchiectasis with or Without Elevated Sweat Chloride 2 57 73 29 13 6 71
Cystic Fibrosis-Like Syndrome 57 73
Besc2 57 73
Bronchiectasis, with/without Elevated Sweat Chloride, Type 2 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
bronchiectasis with or without elevated sweat chloride 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 613021
OMIM Phenotypic Series 57 PS211400
MeSH 44 D001987
MedGen 41 C2751666
SNOMED-CT via HPO 68 12295008 263681008 63480004
UMLS 71 C2751666

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 73 Bronchiectasis with or without elevated sweat chloride 2: 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 2, 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 3. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (Sodium Channel Epithelial 1 Subunit Alpha). Related phenotypes are elevated sweat chloride and bronchiectasis

More information from OMIM: 613021 PS211400

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

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 2 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 3 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 2:



Diseases related to Bronchiectasis with or Without Elevated Sweat Chloride 2

Symptoms & Phenotypes for Bronchiectasis with or Without Elevated Sweat Chloride 2

Human phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

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 05-Mar-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®:

613021 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.62 LTBR SCNN1A

Drugs & Therapeutics for Bronchiectasis with or Without Elevated Sweat Chloride 2

Search Clinical Trials , NIH Clinical Center for Bronchiectasis with or Without Elevated Sweat Chloride 2

Genetic Tests for Bronchiectasis with or Without Elevated Sweat Chloride 2

Genetic tests related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

# Genetic test Affiliating Genes
1 Bronchiectasis with or Without Elevated Sweat Chloride 2 29 SCNN1A

Anatomical Context for Bronchiectasis with or Without Elevated Sweat Chloride 2

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

Articles related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

# Title Authors PMID Year
1
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. 57 6
19462466 2009
2
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 57 6
9654209 1998
3
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
4
Carbonic anhydrase XII functions in health and disease. 61
28433659 2017
5
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. 61
16207733 2005
6
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 2

ClinVar genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCNN1A NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys) SNV Pathogenic 9270 rs61759860 12:6483709-6483709 12:6374543-6374543
2 SCNN1A NM_001038.6(SCNN1A):c.340G>A (p.Val114Ile) SNV Pathogenic 9268 rs61759861 12:6483610-6483610 12:6374444-6374444
3 SCNN1A NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser) SNV Uncertain significance 310145 rs886049759 12:6464978-6464978 12:6355812-6355812
4 SCNN1A NM_001038.6(SCNN1A):c.*736T>G SNV Uncertain significance 310121 rs886049752 12:6456303-6456303 12:6347137-6347137
5 SCNN1A NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg) SNV Uncertain significance 310140 rs886049757 12:6463917-6463917 12:6354751-6354751
6 SCNN1A NM_001038.6(SCNN1A):c.*580A>C SNV Uncertain significance 310124 rs886049754 12:6456459-6456459 12:6347293-6347293
7 SCNN1A NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg) SNV Uncertain significance 310154 rs768767909 12:6483876-6483876 12:6374710-6374710
8 SCNN1A NM_001038.6(SCNN1A):c.*415C>T SNV Uncertain significance 310125 rs886049755 12:6456624-6456624 12:6347458-6347458
9 SCNN1A NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly) SNV Uncertain significance 310143 rs181065138 12:6464533-6464533 12:6355367-6355367
10 SCNN1A NM_001038.6(SCNN1A):c.*114G>A SNV Uncertain significance 310127 rs886049756 12:6456925-6456925 12:6347759-6347759
11 SCNN1A NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg) SNV Uncertain significance 310152 rs144763378 12:6483631-6483631 12:6374465-6374465
12 SCNN1A NM_001038.6(SCNN1A):c.*590C>G SNV Uncertain significance 310123 rs886049753 12:6456449-6456449 12:6347283-6347283
13 SCNN1A NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) SNV Uncertain significance 587486 rs141756749 12:6483565-6483565 12:6374399-6374399
14 SCNN1A NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) SNV Uncertain significance 587487 rs1565475355 12:6458376-6458376 12:6349210-6349210
15 SCNN1A NM_001038.6(SCNN1A):c.*727A>G SNV Uncertain significance 880565 12:6456312-6456312 12:6347146-6347146
16 SCNN1A NM_001038.6(SCNN1A):c.*666T>C SNV Uncertain significance 880566 12:6456373-6456373 12:6347207-6347207
17 SCNN1A NM_001038.6(SCNN1A):c.*69A>G SNV Uncertain significance 880643 12:6456970-6456970 12:6347804-6347804
18 SCNN1A NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=) SNV Uncertain significance 880714 12:6458336-6458336 12:6349170-6349170
19 SCNN1A NM_001038.6(SCNN1A):c.-54-13G>A SNV Uncertain significance 880835 12:6484016-6484016 12:6374850-6374850
20 SCNN1A NM_001038.6(SCNN1A):c.*542G>A SNV Uncertain significance 881985 12:6456497-6456497 12:6347331-6347331
21 SCNN1A NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met) SNV Uncertain significance 882174 12:6471315-6471315 12:6362149-6362149
22 LTBR NM_001038.6(SCNN1A):c.-59G>C SNV Uncertain significance 882225 12:6484675-6484675 12:6375509-6375509
23 SCNN1A NM_001038.6(SCNN1A):c.417-15C>T SNV Uncertain significance 882421 12:6472891-6472891 12:6363725-6363725
24 SCNN1A NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu) SNV Uncertain significance 883257 12:6458571-6458571 12:6349405-6349405
25 SCNN1A NM_001038.6(SCNN1A):c.*1020G>T SNV Uncertain significance 883854 12:6456019-6456019 12:6346853-6346853
26 SCNN1A NM_001038.6(SCNN1A):c.*386G>A SNV Uncertain significance 883925 12:6456653-6456653 12:6347487-6347487
27 SCNN1A NM_001038.6(SCNN1A):c.*352A>G SNV Uncertain significance 883926 12:6456687-6456687 12:6347521-6347521
28 SCNN1A NM_001038.6(SCNN1A):c.*180T>C SNV Uncertain significance 883927 12:6456859-6456859 12:6347693-6347693
29 SCNN1A NM_001038.6(SCNN1A):c.648G>A (p.Gln216=) SNV Uncertain significance 310151 rs780536807 12:6472645-6472645 12:6363479-6363479
30 SCNN1A NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn) SNV Uncertain significance 310141 rs886049758 12:6463981-6463981 12:6354815-6354815
31 SCNN1A NM_001038.6(SCNN1A):c.*468C>T SNV Uncertain significance 883147 12:6456571-6456571 12:6347405-6347405
32 SCNN1A NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val) SNV Likely benign 883206 12:6457244-6457244 12:6348078-6348078
33 SCNN1A NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg) SNV Likely benign 883207 12:6457248-6457248 12:6348082-6348082
34 SCNN1A NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe) SNV Likely benign 882113 12:6458538-6458538 12:6349372-6349372
35 SCNN1A NM_001038.6(SCNN1A):c.*4G>A SNV Likely benign 310130 rs557017986 12:6457035-6457035 12:6347869-6347869
36 SCNN1A NM_001038.6(SCNN1A):c.541C>T (p.Arg181Trp) SNV Likely benign 196305 rs55797039 12:6472752-6472752 12:6363586-6363586
37 SCNN1A NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln) SNV Likely benign 310132 rs775290860 12:6457283-6457283 12:6348117-6348117
38 SCNN1A NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) SNV Likely benign 9269 rs5742912 12:6458350-6458350 12:6349184-6349184
39 SCNN1A NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala) SNV Benign 165164 rs2228576 12:6457062-6457062 12:6347896-6347896
40 SCNN1A NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys) SNV Benign 310148 rs759933475 12:6471266-6471266 12:6362100-6362100
41 SCNN1A NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=) SNV Benign 310137 rs3764873 12:6458342-6458342 12:6349176-6349176
42 SCNN1A NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr) SNV Benign 165165 rs11542844 12:6464581-6464581 12:6355415-6355415
43 SCNN1A NM_001038.6(SCNN1A):c.*70T>C SNV Benign 310129 rs72657538 12:6456969-6456969 12:6347803-6347803
44 SCNN1A NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys) SNV Benign 310149 rs142409152 12:6471346-6471346 12:6362180-6362180
45 SCNN1A NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly) SNV Benign 310142 rs569195112 12:6464508-6464508 12:6355342-6355342
46 SCNN1A NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala) SNV Benign 310134 rs72657550 12:6457963-6457963 12:6348797-6348797
47 SCNN1A NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe) SNV Benign 194190 rs3741913 12:6457196-6457196 12:6348030-6348030
48 SCNN1A NM_001038.6(SCNN1A):c.1554-6C>T SNV Benign 310135 rs376456435 12:6457974-6457974 12:6348808-6348808
49 SCNN1A NM_001038.6(SCNN1A):c.1497+6G>C SNV Benign 310136 rs144275086 12:6458324-6458324 12:6349158-6349158
50 SCNN1A NM_001038.6(SCNN1A):c.*914A>G SNV Benign 310119 rs62619209 12:6456125-6456125 12:6346959-6346959

UniProtKB/Swiss-Prot genetic disease variations for Bronchiectasis with or Without Elevated Sweat Chloride 2:

73
# Symbol AA change Variation ID SNP ID
1 SCNN1A p.Phe61Leu VAR_060793 rs61758859
2 SCNN1A p.Val114Ile VAR_060794 rs61759861

Expression for Bronchiectasis with or Without Elevated Sweat Chloride 2

Search GEO for disease gene expression data for Bronchiectasis with or Without Elevated Sweat Chloride 2.

Pathways for Bronchiectasis with or Without Elevated Sweat Chloride 2

GO Terms for Bronchiectasis with or Without Elevated Sweat Chloride 2

Sources for Bronchiectasis with or Without Elevated Sweat Chloride 2

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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