BESC2
MCID: BRN075
MIFTS: 26

Bronchiectasis with or Without Elevated Sweat Chloride 2 (BESC2)

Categories: Genetic 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 56 73 29 13 6 71
Cystic Fibrosis-Like Syndrome 56 73
Besc2 56 73
Bronchiectasis, with/without Elevated Sweat Chloride, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 56 613021
OMIM Phenotypic Series 56 PS211400
MeSH 43 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). Affiliated tissues include lung, and 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 12.1
2 bronchiectasis with or without elevated sweat chloride 3 12.0
3 liddle syndrome 1 9.9
4 cystic fibrosis 9.9
5 autosomal recessive disease 9.9
6 pseudohypoaldosteronism 9.9
7 kidney disease 9.9
8 cystic fibrosis and congenital absence of the vas deferens 9.9
9 idiopathic bronchiectasis 9.9

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:

56
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

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

45
# 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

MalaCards organs/tissues related to Bronchiectasis with or Without Elevated Sweat Chloride 2:

40
Lung

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. 56 6
19462466 2009
2
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator. 6 56
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. 56
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.340G>A (p.Val114Ile)SNV Pathogenic 9268 rs61759861 12:6483610-6483610 12:6374444-6374444
2 SCNN1A NM_001038.6(SCNN1A):c.241C>T (p.Arg81Cys)SNV Pathogenic 9270 rs61759860 12:6483709-6483709 12:6374543-6374543
3 SCNN1A NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)SNV Conflicting interpretations of pathogenicity 229238 rs149484264 12:6463942-6463942 12:6354776-6354776
4 SCNN1A NM_001038.6(SCNN1A):c.1394C>T (p.Ser465Phe)SNV Conflicting interpretations of pathogenicity 882113 12:6458538-6458538 12:6349372-6349372
5 SCNN1A NM_001038.6(SCNN1A):c.-55+2T>CSNV Conflicting interpretations of pathogenicity 591722 rs772498945 12:6484669-6484669 12:6375503-6375503
6 SCNN1A NM_001038.6(SCNN1A):c.1771C>T (p.Arg591Ter)SNV Conflicting interpretations of pathogenicity 632197 rs771949339 12:6457278-6457278 12:6348112-6348112
7 SCNN1A NM_001038.6(SCNN1A):c.126G>A (p.Thr42=)SNV Conflicting interpretations of pathogenicity 779151 12:6483824-6483824 12:6374658-6374658
8 SCNN1A NM_001038.6(SCNN1A):c.1520C>T (p.Ser507Leu)SNV Conflicting interpretations of pathogenicity 738498 12:6458149-6458149 12:6348983-6348983
9 SCNN1A NM_001038.6(SCNN1A):c.147C>T (p.Ile49=)SNV Conflicting interpretations of pathogenicity 742200 12:6483803-6483803 12:6374637-6374637
10 SCNN1A NM_001038.6(SCNN1A):c.*467C>ASNV Conflicting interpretations of pathogenicity 883148 12:6456572-6456572 12:6347406-6347406
11 SCNN1A NM_001038.6(SCNN1A):c.2004G>T (p.Gly668=)SNV Conflicting interpretations of pathogenicity 882060 12:6457045-6457045 12:6347879-6347879
12 SCNN1A NM_001038.6(SCNN1A):c.1805C>T (p.Ala602Val)SNV Conflicting interpretations of pathogenicity 883206 12:6457244-6457244 12:6348078-6348078
13 SCNN1A NM_001038.6(SCNN1A):c.1801G>C (p.Gly601Arg)SNV Conflicting interpretations of pathogenicity 883207 12:6457248-6457248 12:6348082-6348082
14 SCNN1A NM_001038.6(SCNN1A):c.*914A>GSNV Conflicting interpretations of pathogenicity 310119 rs62619209 12:6456125-6456125 12:6346959-6346959
15 SCNN1A NM_001038.6(SCNN1A):c.1686G>A (p.Ser562=)SNV Conflicting interpretations of pathogenicity 310133 rs199526819 12:6457363-6457363 12:6348197-6348197
16 SCNN1A NM_001038.6(SCNN1A):c.1559G>C (p.Gly520Ala)SNV Conflicting interpretations of pathogenicity 310134 rs72657550 12:6457963-6457963 12:6348797-6348797
17 SCNN1A NM_001038.6(SCNN1A):c.1484C>T (p.Ser495Leu)SNV Conflicting interpretations of pathogenicity 310138 rs148749888 12:6458343-6458343 12:6349177-6349177
18 SCNN1A NM_001038.6(SCNN1A):c.840C>T (p.Phe280=)SNV Conflicting interpretations of pathogenicity 310147 rs139335335 12:6471252-6471252 12:6362086-6362086
19 SCNN1A NM_001038.6(SCNN1A):c.*296C>TSNV Conflicting interpretations of pathogenicity 310126 rs55981728 12:6456743-6456743 12:6347577-6347577
20 SCNN1A NM_001038.6(SCNN1A):c.*113C>TSNV Conflicting interpretations of pathogenicity 310128 rs62620999 12:6456926-6456926 12:6347760-6347760
21 SCNN1A NM_001038.6(SCNN1A):c.1935C>T (p.Ala645=)SNV Conflicting interpretations of pathogenicity 310131 rs370406973 12:6457114-6457114 12:6347948-6347948
22 SCNN1A NM_001038.6(SCNN1A):c.-54-14C>TSNV Conflicting interpretations of pathogenicity 310156 rs61758858 12:6484017-6484017 12:6374851-6374851
23 SCNN1A NM_001038.6(SCNN1A):c.1073A>G (p.Glu358Gly)SNV Conflicting interpretations of pathogenicity 310142 rs569195112 12:6464508-6464508 12:6355342-6355342
24 SCNN1A NM_001038.6(SCNN1A):c.746G>A (p.Arg249Lys)SNV Conflicting interpretations of pathogenicity 310149 rs142409152 12:6471346-6471346 12:6362180-6362180
25 SCNN1A NM_001038.6(SCNN1A):c.1299C>T (p.Tyr433=)SNV Conflicting interpretations of pathogenicity 310139 rs375712066 12:6463665-6463665 12:6354499-6354499
26 SCNN1A NM_001038.6(SCNN1A):c.1766G>A (p.Arg589Gln)SNV Conflicting interpretations of pathogenicity 310132 rs775290860 12:6457283-6457283 12:6348117-6348117
27 SCNN1A NM_001038.6(SCNN1A):c.1554-6C>TSNV Conflicting interpretations of pathogenicity 310135 rs376456435 12:6457974-6457974 12:6348808-6348808
28 SCNN1A NM_001038.6(SCNN1A):c.1497+6G>CSNV Conflicting interpretations of pathogenicity 310136 rs144275086 12:6458324-6458324 12:6349158-6349158
29 SCNN1A NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=)SNV Conflicting interpretations of pathogenicity 310137 rs3764873 12:6458342-6458342 12:6349176-6349176
30 SCNN1A NM_001038.6(SCNN1A):c.876-13C>TSNV Conflicting interpretations of pathogenicity 310146 rs201235216 12:6465059-6465059 12:6355893-6355893
31 SCNN1A NM_001038.6(SCNN1A):c.826G>T (p.Gly276Cys)SNV Conflicting interpretations of pathogenicity 310148 rs759933475 12:6471266-6471266 12:6362100-6362100
32 SCNN1A NM_001038.6(SCNN1A):c.648G>A (p.Gln216=)SNV Uncertain significance 310151 rs780536807 12:6472645-6472645 12:6363479-6363479
33 SCNN1A NM_001038.6(SCNN1A):c.*415C>TSNV Uncertain significance 310125 rs886049755 12:6456624-6456624 12:6347458-6347458
34 SCNN1A NM_001038.6(SCNN1A):c.1048C>G (p.Arg350Gly)SNV Uncertain significance 310143 rs181065138 12:6464533-6464533 12:6355367-6355367
35 SCNN1A NM_001038.6(SCNN1A):c.1241A>G (p.Gln414Arg)SNV Uncertain significance 310140 rs886049757 12:6463917-6463917 12:6354751-6354751
36 SCNN1A NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn)SNV Uncertain significance 310141 rs886049758 12:6463981-6463981 12:6354815-6354815
37 SCNN1A NM_001038.6(SCNN1A):c.*736T>GSNV Uncertain significance 310121 rs886049752 12:6456303-6456303 12:6347137-6347137
38 SCNN1A NM_001038.6(SCNN1A):c.74A>G (p.Lys25Arg)SNV Uncertain significance 310154 rs768767909 12:6483876-6483876 12:6374710-6374710
39 SCNN1A NM_001038.6(SCNN1A):c.*580A>CSNV Uncertain significance 310124 rs886049754 12:6456459-6456459 12:6347293-6347293
40 SCNN1A NM_001038.6(SCNN1A):c.*114G>ASNV Uncertain significance 310127 rs886049756 12:6456925-6456925 12:6347759-6347759
41 SCNN1A NM_001038.6(SCNN1A):c.944A>G (p.Asn315Ser)SNV Uncertain significance 310145 rs886049759 12:6464978-6464978 12:6355812-6355812
42 SCNN1A NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg)SNV Uncertain significance 310152 rs144763378 12:6483631-6483631 12:6374465-6374465
43 SCNN1A NM_001038.6(SCNN1A):c.*590C>GSNV Uncertain significance 310123 rs886049753 12:6456449-6456449 12:6347283-6347283
44 SCNN1A NM_001038.6(SCNN1A):c.1491A>G (p.Thr497=)SNV Uncertain significance 880714 12:6458336-6458336 12:6349170-6349170
45 SCNN1A NM_001038.6(SCNN1A):c.*386G>ASNV Uncertain significance 883925 12:6456653-6456653 12:6347487-6347487
46 SCNN1A NM_001038.6(SCNN1A):c.*352A>GSNV Uncertain significance 883926 12:6456687-6456687 12:6347521-6347521
47 SCNN1A NM_001038.6(SCNN1A):c.*180T>CSNV Uncertain significance 883927 12:6456859-6456859 12:6347693-6347693
48 SCNN1A NM_001038.6(SCNN1A):c.*69A>GSNV Uncertain significance 880643 12:6456970-6456970 12:6347804-6347804
49 SCNN1A NM_001038.6(SCNN1A):c.*1020G>TSNV Uncertain significance 883854 12:6456019-6456019 12:6346853-6346853
50 SCNN1A NM_001038.6(SCNN1A):c.*727A>GSNV Uncertain significance 880565 12:6456312-6456312 12:6347146-6347146

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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