ORPHA:440402

Interstitial lung disease due to ABCA3 deficiency

Synonyms: Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood, Infancy, Neonatal
Status: active

A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Interstitial lung disease due to ABCA3 deficiency	Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
fr	Pneumopathie interstitielle par déficit en ABCA3
de	Interstitielle Lungenerkrankung durch ABCA3-Mangel	Interstitielle Lungenerkrankung durch ABCA-3-Transporter-Defekt
es	Enfermedad pulmonar intersticial por deficiencia de ABCA3	Enfermedad pulmonar intersticial por deficiencia del cassette de unión al ATP, subfamilia A, miembro 3
it	Pneumopatia interstiziale da deficit di ABCA3	Malattia polmonare interstiziale da deficit di ATP-binding cassette subfamily A member 3
nl	Interstitiële longziekte door ABCA3-deficiëntie	Interstitiële longziekte door deficiëntie van ATP-binding cassette subfamilie A lid 3
pt	Doença pulmonar intersticial por défice de ABCA3
pl	Śródmiąższowa choroba płuc spowodowana niedoborem ABCA3	Śródmiąższowa choroba płuc spowodowana niedoborem członka 3 podrodziny A kasety wiążącej ATP
cs	Intersticiální plicní onemocnění způsobené deficitem ABCA3	Intersticiální plicní onemocnění způsobené deficitem ATP-binding cassette transporteru A3
uk	Інтерстиціальне захворювання легень, зумовлене дефіцитом ABCA3	Інтерстиціальне захворювання легень, спричинене дефіцитом члена 3 підродини АТФ-звязуючої касетної системи підродини А
zh	ABCA3缺乏所致间质性肺疾病	ATP结合盒亚家族A成员3缺乏导致的间质性肺病
tr	ABCA3 eksikliğine bağlı interstisyel akciğer hastalığı	ATP bağlayıcı kaset A alt ailesi üyesi 3 eksikliğine bağlı interstisyel akciğer hastalığı

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	610921	E		validated
ICD-10	J84.8	NTBT	attributed	validated
ICD-11	CB04.2	NTBT	index	validated
MONDO	0012582	E		validated
MeSH	C567046	E		validated
UMLS	C1970456	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 (1):

ORPHA:100049Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
rare genetic diseases; rare respiratory diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ABCA3	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:33	ENSG00000167972	601615	16p13.3	ATP binding cassette subfamily A member 3	22018035[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		19 cases	Worldwide	Case(s)	Validated	15044640[PMID]_17719949[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	15044640[PMID]_17719949[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

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/440402
This record as JSON: /data/d/440402.json