Details of Disease

General Information of Disease (ID: DISOCR1N)

Disease Name Autosomal dominant optic atrophy
Synonyms dominant optic atrophy; DOA; ADOA; optic atrophy, autosomal dominant
Definition An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
Disease Hierarchy
DIS1L24B: Eye degenerative disorder
DISCV4E4: Hereditary optic atrophy
DIS4DFBG: Hereditary optic neuropathy
DIS3HIWD: Autosomal dominant disease
DISOCR1N: Autosomal dominant optic atrophy
Disease Identifiers
MONDO ID
MONDO_0020250
UMLS CUI
C4551508
MedGen ID
1647918
Orphanet ID
98672
SNOMED CT ID
2065009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC14A1 TTWVJU1 Strong Genetic Variation [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CCDC50 OTSE1YM5 Strong Genetic Variation [2]
MFN2 OTPYN8A3 Strong Genetic Variation [3]
OPA3 OT6NDC1M Strong Genetic Variation [4]
PHLDA2 OTMV9DPP Strong Genetic Variation [5]
SSBP1 OTH2PZWH Strong Genetic Variation [6]
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References

1 Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.Arch Ophthalmol. 1999 Jun;117(6):805-10. doi: 10.1001/archopht.117.6.805.
2 A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.Eur J Med Genet. 2009 Mar-Jun;52(2-3):131-3. doi: 10.1016/j.ejmg.2009.03.009. Epub 2009 Mar 24.
3 The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype.Brain. 2012 Jan;135(Pt 1):23-34. doi: 10.1093/brain/awr323. Epub 2011 Dec 20.
4 A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.J Med Genet. 2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774. Epub 2013 Oct 17.
5 Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.Acta Ophthalmol. 2015 Dec;93(8):762-6. doi: 10.1111/aos.12835. Epub 2015 Sep 19.
6 SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.Ann Neurol. 2019 Sep;86(3):368-383. doi: 10.1002/ana.25550. Epub 2019 Jul 31.