Details of Disease | DrugMAP

General Information of Disease (ID: DISJHOGS)

Disease Name	Hereditary myopathy with lactic acidosis due to ISCU deficiency
Synonyms	myopathy with deficiency of succinate dehydrogenase and aconitase; HML; myoglobinuria due to abnormal glycolysis; myopathy with lactic acidosis, hereditary; ISCU myopathy; iron-sulfur cluster deficiency myopathy; aconitase deficiency; myopathy with exercise intolerance, Swedish type
Definition	Aconitase deficiency is characterized by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Disease Hierarchy	DISKAHA3: Mitochondrial disease DISSE3BW: Metabolic myopathy DISU0K94: Hereditary skeletal muscle disorder DISJHOGS: Hereditary myopathy with lactic acidosis due to ISCU deficiency
Disease Identifiers	MONDO ID MONDO_0009706 MESH ID C564972 UMLS CUI C1850718 OMIM ID 255125 MedGen ID 342573 Orphanet ID 43115 SNOMED CT ID 699268002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ISCU	OTSW6DQP	Strong	Autosomal recessive	[1]
SRSF3	OTOFT707	Strong	Biomarker	[2]
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References

1	Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect. Hum Mol Genet. 2008 Jun 1;17(11):1666-72. doi: 10.1093/hmg/ddn057. Epub 2008 Feb 23.
2	The High Level of Aberrant Splicing of ISCU in Slow-Twitch Muscle May Involve the Splicing Factor SRSF3.PLoS One. 2016 Oct 26;11(10):e0165453. doi: 10.1371/journal.pone.0165453. eCollection 2016.