Details of Disease | DrugMAP

General Information of Disease (ID: DISLI77R)

Disease Name	Interstitial lung disease due to ABCA3 deficiency
Synonyms	SMDP3; pulmonary alveolar proteinosis, congenital, 3; surfactant metabolism dysfunction, pulmonary, 3; interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency; interstitial lung disease due to ABCA3 deficiency; surfactant metabolism dysfunction, pulmonary, type 3
Definition	Interstitial lung disease due to ABCA3 deficiency is 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.
Disease Hierarchy	DISQC53I: Hereditary pulmonary alveolar proteinosis DISLI77R: Interstitial lung disease due to ABCA3 deficiency
Disease Identifiers	MONDO ID MONDO_0012582 MESH ID C567046 UMLS CUI C1970456 OMIM ID 610921 MedGen ID 410074 Orphanet ID 440402 SNOMED CT ID 1222678003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA3	DT2T6VQ	Strong	Autosomal recessive	[1]
ABCA3	DT2T6VQ	Strong	CausalMutation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCA3	OTH6MSKQ	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.Hum Mutat. 2018 Jun;39(6):841-850. doi: 10.1002/humu.23416. Epub 2018 Mar 25.