Details of Disease | DrugMAP

General Information of Disease (ID: DISQHT28)

Disease Name	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DISVY1TT: Leukodystrophy DISK7IP8: Mitochondrial oxidative phosphorylation disorder DISQHT28: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Disease Identifiers	MONDO ID MONDO_0018576 UMLS CUI C5688227 MedGen ID 1806079 Orphanet ID 436271 SNOMED CT ID 1220598005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COA8	OTOM9C4A	Supportive	Autosomal recessive	[1]
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References

1	Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am J Hum Genet. 2014 Sep 4;95(3):315-25. doi: 10.1016/j.ajhg.2014.08.003. Epub 2014 Aug 28.