Details of Disease

General Information of Disease (ID: DISTRG53)

• Disease Name: Leber plus disease
• Synonyms: LHON plus disease
• Definition: Leber `plus' disease describes patients with the clinical features of Leber's hereditary optic neuropathy (LHON) in combination with other serious systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, dystonia, motor and sensory peripheral neuropathy, spasticity and mild encephalopathy. It is caused by maternally-inherited mitochondrial DNA (mtDNA) mutations.
• Disease Hierarchy:
  DISK7IP8: Mitochondrial oxidative phosphorylation disorder
  DISTRG53: Leber plus disease
• Disease Identifiers:
  MONDO ID: MONDO_0020478
  UMLS CUI: C4304725
  MedGen ID: 930394
  Orphanet ID: 99718
  SNOMED CT ID: 719430008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ND3	OT1OC3K3	Disputed	GermlineCausalMutation	[1]
ND4	OT4RQVAA	Strong	GermlineCausalMutation	[2]
ND6	OTG47B7B	Strong	GermlineCausalMutation	[2]

References

• [1] Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia. Neurogenetics. 2009 Oct;10(4):337-45. doi: 10.1007/s10048-009-0194-0. Epub 2009 May 21.
• [2] Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.Am J Hum Genet. 1996 Apr;58(4):703-11.