Details of Disease

General Information of Disease (ID: DISE9P9R)

• Disease Name: Autosomal dominant optic atrophy plus syndrome
• Synonyms: optic atrophy - deafness- polyneuropathy - myopathy; dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy; Treft-Sanborn-Carey syndrome; optic atrophy-deafness-polyneuropathy-myopathy syndrome; DOA+; optic atrophy type 8
• Definition: Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.
• Disease Hierarchy:
  DISKAHA3: Mitochondrial disease
  DISOCR1N: Autosomal dominant optic atrophy
  DISE9P9R: Autosomal dominant optic atrophy plus syndrome

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OPA1	TTTU49Q	Supportive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
OPA1	OTJGNWPW	Supportive	Autosomal dominant	[1]

References

• [1] OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24.