MCID: BRN075
MIFTS: 19

Bronchiectasis with or Without Elevated Sweat Chloride 2

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 53 71 28 13 69
Cystic Fibrosis-Like Syndrome 53 71
Besc2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 53 613021
MedGen 39 C2751666
MeSH 41 D001987
SNOMED-CT via HPO 65 263681008 12295008 63480004
UMLS 69 C2751666

Summaries for Bronchiectasis with or Without Elevated Sweat Chloride 2

UniProtKB/Swiss-Prot : 71 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, and has symptoms including bronchiectasis, chronic bronchitis and elevated sweat chloride. An important gene associated with Bronchiectasis with or Without Elevated Sweat Chloride 2 is SCNN1A (Sodium Channel Epithelial 1 Alpha Subunit). Affiliated tissues include lung.

Description from OMIM: 613021

Related Diseases for Bronchiectasis with or Without Elevated Sweat Chloride 2

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 11.7
2 bronchiectasis with or without elevated sweat chloride 3 11.7
3 fibrosis of extraocular muscles, congenital, 1 9.8
4 cystic fibrosis 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Respiratory Airways:
chronic bronchitis

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

Respiratory Lung:
bronchiectasis


Clinical features from OMIM:

613021

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

31
# Description HPO Frequency HPO Source Accession
1 bronchiectasis 31 HP:0002110
2 chronic bronchitis 31 HP:0004469
3 elevated sweat chloride 31 occasional (7.5%) HP:0012236

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 28 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:

38
Lung

Publications for Bronchiectasis with or Without Elevated Sweat Chloride 2

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

# Title Authors Year
1
Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome. ( 16207733 )
2005

Variations for Bronchiectasis with or Without Elevated Sweat Chloride 2

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

71
# Symbol AA change Variation ID SNP ID
1 SCNN1A p.Phe61Leu VAR_060793 rs61758859
2 SCNN1A p.Val114Ile VAR_060794 rs61759861

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCNN1A NM_001038.5(SCNN1A): c.340G> A (p.Val114Ile) single nucleotide variant Pathogenic rs61759861 GRCh37 Chromosome 12, 6483610: 6483610
2 SCNN1A NM_001038.5(SCNN1A): c.241C> T (p.Arg81Cys) single nucleotide variant Pathogenic rs61759860 GRCh37 Chromosome 12, 6483709: 6483709

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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