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disease: 3-Methylglutaconic aciduria type 3

id7
name3-Methylglutaconic aciduria type 3
descriptionOPA3-related 3-methylglutaconic aciduria is characterized by optic atrophy and/or choreoathetoid movement disorder with onset before age ten years. Optic atrophy is associated with progressive, decreased visual acuity within the first years of life, sometimes associated with infantile-onset horizontal nystagmus. Most individuals have chorea, often severe enough to restrict ambulation. Some are confined to a wheelchair from an early age. Although most individuals develop spastic paraparesis, mild ataxia, and occasional mild cognitive deficit in their second decade, the course of the disease is relatively stable.
variant-disease NM_001017989.2(OPA3):c.443del (p.Leu149Trpfs) AND 3-Methylglutaconic aciduria type 3
NM_001017989.2(OPA3):c.421C>T (p.Gln141Ter) AND 3-Methylglutaconic aciduria type 3
NM_025136.3(OPA3):c.*6688G>A AND 3-Methylglutaconic aciduria type 3
NM_025136.3(OPA3):c.*422C>T AND 3-Methylglutaconic aciduria type 3
NM_025136.3(OPA3):c.*6442A>G AND 3-Methylglutaconic aciduria type 3
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