disease: 3-Methylglutaconic aciduria type 3
| id | 7 |
|---|---|
| name | 3-Methylglutaconic aciduria type 3 |
| description | OPA3-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 ... 179 more |