Details of Disease | DrugMAP

General Information of Disease (ID: DISD1JXS)

Disease Name	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Synonyms	hydrops, lactic acidosis, and sideroblastic anaemia; HLASA; hydrops, lactic acidosis, and sideroblastic anemia
Disease Hierarchy	DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISD1JXS: Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Disease Identifiers	MONDO ID MONDO_0014869 UMLS CUI C4310761 OMIM ID 617021 MedGen ID 934728 Orphanet ID 528091 SNOMED CT ID 1237349008

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
LARS2	DEP7BTH	Limited	Biomarker	[1]
LARS2	DEP7BTH	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LARS2	OTJS37LE	Strong	Autosomal recessive	[1]
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References

1	LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. JIMD Rep. 2016;28:49-57. doi: 10.1007/8904_2015_515. Epub 2015 Nov 5.