Details of Disease | DrugMAP

General Information of Disease (ID: DISHMWCY)

Disease Name	Ornithine aminotransferase deficiency
Synonyms	hyperornithinemia with gyrate atrophy of choroid and retina; Fuchs gyrate atrophy; Fuchs atrophia gyrata chorioideae et retinae; OAT deficiency; Okt deficiency; Ornithinemia; OKT deficiency; gyrate atrophy of choroid and retina; ornithine Keto acid aminotransferase deficiency; Fuchs gyrate atrophy of the choroid and retina; ornithine-Delta-aminotransferase deficiency; ornithine ketoacid aminotransferase deficiency; Oat deficiency; Girate atrophy of the retina; gyrate atrophy of choroid and retina with or without ornithinemia; hyperornithinemia; gyrate atrophy of the choroid and/or retina; hoga; gyrate atrophy of the retina; GACR; ornithine aminotransferase deficiency; hyperornithinemia-gyrate atrophy of choroid and retina syndrome; gyrate atrophy; Ornithinemia with gyrate atrophy
Definition	A very rare inherited retinal dystrophy characterized by progressive chorioretinal atrophy, myopia and early cataract.
Disease Hierarchy	DISSYRHC: Hereditary peripheral neuropathy DIS5BDC1: Inborn disorder of ornithine metabolism DIS1GZDX: Neurovascular disorder DISGGL77: Inherited retinal dystrophy DIS6C8BX: Optic choroid disorder DISHMWCY: Ornithine aminotransferase deficiency
Disease Identifiers	MONDO ID MONDO_0009796 MESH ID D015799 UMLS CUI C0018425 OMIM ID 258870 MedGen ID 6695 Orphanet ID 414 SNOMED CT ID 314467007

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
OAT	TTTSCQ2	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RNASE1	OTKZ7CO9	moderate	Biomarker	[2]
OAT	OTEKO8CT	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.J Clin Invest. 1988 Feb;81(2):630-3. doi: 10.1172/JCI113365.