Details of Disease

General Information of Disease (ID: DISP0XVX)

• Disease Name: Obsolete autosomal recessive optic atrophy
• Synonyms: autosomal recessive nonsyndromic optic atrophy; autosomal recessive isolated optic atrophy
• Disease Hierarchy:
  DIS01GPL: Grass pollen hypersensitivity
  DISP0XVX: Obsolete autosomal recessive optic atrophy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
YME1L1	OT54OJQF	Supportive	Autosomal recessive	[1]
ACO2	OTF2UVNV	Supportive	Autosomal recessive	[2]
MCAT	OTH07FIW	Supportive	Autosomal recessive	[3]
RTN4IP1	OTHUZANE	Supportive	Autosomal recessive	[4]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ACO2	TTMTF2P	Supportive	Autosomal recessive	[2]

References

• [1] Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. Elife. 2016 Aug 6;5:e16078. doi: 10.7554/eLife.16078.
• [2] Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet. 2014 Dec;51(12):834-8. doi: 10.1136/jmedgenet-2014-102532. Epub 2014 Oct 28.
• [3] Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy. Hum Mol Genet. 2020 Feb 1;29(3):444-458. doi: 10.1093/hmg/ddz311.
• [4] Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22.