Details of Disease | DrugMAP

General Information of Disease (ID: DIS0GEC0)

Disease Name	Periodic paralysis with later-onset distal motor neuropathy
Disease Hierarchy	DISLG2RO: Hereditary neuromuscular disease DISD9YAA: Familial periodic paralysis DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS0GEC0: Periodic paralysis with later-onset distal motor neuropathy
Disease Identifiers	MONDO ID MONDO_0018343 UMLS CUI C4751573 MedGen ID 1670241 Orphanet ID 397750 SNOMED CT ID 774154008

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
MT-ATP8	OTYQQR53	Supportive	Mitochondrial	[1]
ATP6	OTPHOGLX	Definitive	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

References

1	Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations. Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23.