Details of Disease | DrugMAP

General Information of Disease (ID: DIS9EFIT)

Disease Name	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Synonyms	pulmonary alveolar proteinosis, Reunion Island; infantile liver failure syndrome 2, formerly; infantile liver failure syndrome 2; ILLD; hereditary pulmonary alveolar proteinosis with hepatic involvement; pulmonary alveolar proteinosis, Reunion island type; interstitial lung and liver disease; PAP, Reunion island type
Disease Hierarchy	DISQC53I: Hereditary pulmonary alveolar proteinosis DIS9EFIT: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Disease Identifiers	MONDO ID MONDO_0014206 UMLS CUI C4225400 OMIM ID 615486 MedGen ID 895551 Orphanet ID 440427 SNOMED CT ID 1228876007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS1	DE0K52I	Limited	Genetic Variation	[1]
MARS1	DE0K52I	Strong	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MARS1	OTLJ6MHJ	Strong	Autosomal recessive	[2]
SLA2	OTNVE666	Strong	Genetic Variation	[1]
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References

1	MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.Eur J Med Genet. 2018 Oct;61(10):616-620. doi: 10.1016/j.ejmg.2018.04.005. Epub 2018 Apr 12.
2	Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype. BMC Med Genet. 2013 Oct 8;14:106. doi: 10.1186/1471-2350-14-106.