ORPHA:60033

Idiopathic bronchiectasis

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: All ages
Status: active

Idiopathic bronchiectasis (IB) is a progressive lung disease characterized by chronic dilation of the bronchi and destruction of the bronchial walls in the absence of any underlying cause (such as post infectious disease, aspiration, immunodeficiency, congenital abnormalities and ciliary anomalies).

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Idiopathic bronchiectasis
fr	Bronchiectasie idiopathique	Dilatation des bronches idiopathique · DDB idiopathique
de	Bronchiektasie, idiopathische
es	Bronquiectasia idiopática
it	Bronchiectasia idiopatica
nl	Idiopathische bronchiëctasie
pt	Bronquiectasia idiopática
pl	Idiopatyczne rozstrzenie oskrzeli
cs	Idiopatické bronchiektázie
uk	Ідіопатичний бронхоектаз
zh	特发性支气管扩张症
tr	İdiyopatik bronşektazi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	211400	BTNT		validated
OMIM	613021	BTNT		validated
OMIM	613071	BTNT		validated
ICD-10	J47	NTBT	attributed	validated
ICD-11	CA24	E	specific	validated
MONDO	0018956	E		validated
UMLS	C0339985	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97955Rare respiratory disease

Parents in the classifications (2):

ORPHA:156610Rare genetic respiratory disease
rare genetic diseases
ORPHA:101944Rare pulmonary disease
rare respiratory diseases

No children.

Genes

4 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CFTR	Candidate gene tested in	Not yet assessed	HGNC:1884	ENSG00000001626	602421	7q31.2	CF transmembrane conductance regulator	23781395[PMID]_25797027[PMID]
SCNN1A	Disease-causing germline mutation(s) in	Assessed	HGNC:10599	ENSG00000111319	600228	12p13.31	sodium channel epithelial 1 subunit alpha	19462466[PMID]
SCNN1B	Disease-causing germline mutation(s) in	Assessed	HGNC:10600	ENSG00000168447	600760	16p12.2	sodium channel epithelial 1 subunit beta	21658649[PMID]_18507830[PMID]
SCNN1G	Disease-causing germline mutation(s) in	Assessed	HGNC:10602	ENSG00000166828	600761	16p12.2	sodium channel epithelial 1 subunit gamma	21658649[PMID]_18507830[PMID]

Prevalence and incidence

3 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	1.8 / 100 000	Finland	Value and class	Validated	9787927[PMID]
Prevalence at birth	1-5 / 10 000	29 / 100 000	Finland	Value and class	Validated	9787927[PMID]
Point prevalence	1-5 / 10 000	29 / 100 000	Europe	Value and class	Validated	9787927[PMID]_ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

19 annotations · validated 2019-05-27

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0002110	Bronchiectasis
Very frequent (99-80%)
HP:0002795	Abnormal respiratory system physiology
HP:0031245	Productive cough
HP:0011947	Respiratory tract infection
Frequent (79-30%)
HP:0100749	Chest pain
HP:0030830	Crackles
HP:0002094	Dyspnea
HP:0002105	Hemoptysis
HP:0005376	Recurrent Haemophilus influenzae infections
HP:0002783	Recurrent lower respiratory tract infections
HP:0030877	Reduced FEV1/FVC ratio
HP:0030828	Wheezing
Occasional (29-5%)
HP:0011949	Acute infectious pneumonia
HP:0004326	Cachexia
HP:0002097	Emphysema
HP:0001945	Fever
HP:0100812	Halitosis
HP:0001658	Myocardial infarction
Very rare (<4-1%)
HP:0001217	Clubbing

Run the differential on the 4 obligate / very frequent terms

Annotation source: 31086836[PMID]_28630359[PMID]_29247616[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/60033
This record as JSON: /data/d/60033.json