Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/258501
http://purl.bioontology.org/ontology/OMIM/258501
Preferred Name

3-METHYLGLUTACONIC ACIDURIA, TYPE III
Synonyms
MGCA3
OPTIC ATROPHY PLUS SYNDROME
MGA, TYPE III
MGA3
OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
IRAQI-JEWISH 'OPTIC ATROPHY PLUS'
COSTEFF SYNDROME
OPA3, AUTOSOMAL RECESSIVE
OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIA
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MGCA3
OPTIC ATROPHY PLUS SYNDROME
MGA, TYPE III
MGA3
OPTIC ATROPHY 3, AUTOSOMAL RECESSIVE
IRAQI-JEWISH 'OPTIC ATROPHY PLUS'
COSTEFF SYNDROME
OPA3, AUTOSOMAL RECESSIVE
OPTIC ATROPHY, INFANTILE, WITH CHOREA AND SPASTIC PARAPLEGIA
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prefLabel
3-METHYLGLUTACONIC ACIDURIA, TYPE III
Gene Symbol
OPA3
MGA3
Scope Statement
Allelic disorder to autosomal dominant optic atrophy and cataract (165300) [MISCELLANEOUS]
Increased prevalence in individuals of Jewish-Iraqi origin [MISCELLANEOUS]
Caused by mutation in the outer mitochondrial membrane lipid metabolism regulator OPA3 gene (OPA3, 606580.0001) [MOLECULAR BASIS]
Onset of optic atrophy in infancy or early childhood [MISCELLANEOUS]
Neurologic features occur later in childhood [MISCELLANEOUS]
type
Has manifestation
tui
T047
Gene Locus
19q13.2-q13.3
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
258501
Semantic type UMLS property
Has inheritance type
cui
C0574084
OMIM Entry Type
3
OMIM MimType Value
pound
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