Costeff optic atrophy syndrome Summary Report

Costeff optic atrophy syndrome

Also Known As:

3-methylglutaconic aciduria, type III; Costeff syndrome; Iraqi Jewish optic atrophy plus; OPA3, Autosomal Recessive; Optic Atrophy 3, Autosomal Recessive; Optic atrophy plus syndrome; Optic atrophy, infantile, with chorea and spastic paraplegia

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Chorea: 1575
        Costeff optic atrophy syndrome: 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Nervous System Malformations: 35
    - Hereditary Sensory and Motor Neuropathy: 249
      - Hereditary Spastic Paraplegia: 528
        Costeff optic atrophy syndrome: 9
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Costeff optic atrophy syndrome: 9
  - Nervous System Heredodegenerative Disorders: 63
    - Hereditary Sensory and Motor Neuropathy: 249
      - Hereditary Spastic Paraplegia: 528
        Costeff optic atrophy syndrome: 9
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Costeff optic atrophy syndrome: 9
Eye Diseases: 3522
- Optic Nerve Diseases: 2663
  - Optic Atrophy: 819
    - Costeff optic atrophy syndrome: 9

Related Diseases

1.	Optic Atrophy
2.	Barth Syndrome
3.	Stroke (Strokes)
4.	MELAS Syndrome (Syndrome, MELAS)
5.	Hereditary Spastic Paraplegia

Experts

1.	Anikster, Yair: 3 articles (11/2013 - 06/2010)
2.	Davies, Jennifer R: 2 articles (01/2016 - 11/2012)
3.	Evans, Bronwen A J: 2 articles (01/2016 - 11/2012)
4.	Votruba, Marcela: 2 articles (01/2016 - 11/2012)
5.	Wells, Timothy: 2 articles (01/2016 - 11/2012)
6.	Morava, Eva: 2 articles (01/2014 - 11/2013)
7.	Wevers, Ron A: 2 articles (01/2014 - 11/2013)
8.	Wortmann, Saskia B: 2 articles (01/2014 - 11/2013)
9.	Dorward, Heidi: 2 articles (08/2010 - 06/2010)
10.	Feldman, Benjamin: 2 articles (08/2010 - 06/2010)

1.	Proteins (Proteins, Gene)FDA Link 01/01/2016 - "We have, therefore, characterized the skeletal phenotype in the Opa3L122P mouse model for Costeff syndrome, in which a missense mutation of the mitochondrial membrane protein, Opa3, impairs mitochondrial activity resulting in visual and metabolic dysfunction. " 11/15/2012 - "To address this, we have characterized the metabolic phenotype of a mouse model for Costeff syndrome, in which a point mutation in the mitochondrial membrane protein Opa3 impairs mitochondrial activity. " 11/01/2013 - "The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect). "
2.	3-methylglutaconic acidIBA 08/01/2010 - "Costeff Syndrome, which is caused by mutations in the OPTIC ATROPHY 3 (OPA3) gene, is an early-onset syndrome characterized by urinary excretion of 3-methylglutaconic acid (MGC), optic atrophy and movement disorders, including ataxia and extrapyramidal dysfunction. " 04/01/2015 - "Costeff syndrome is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral optic atrophy along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid. " 06/01/2010 - "3-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. "
3.	dichloromaleic acid (DCMA)IBA 01/01/2014 - "For all other subtypes, also denoted "Secondary 3-methylglutaconic acidurias" (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect, "not otherwise specified (NOS) 3-MGA-uria"), the origin of 3-methylglutaconic aciduria remains enigmatic but is hypothesized to be independent from leucine catabolism. " 11/01/2013 - "The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect). "
4.	3-methylglutaric acidIBA 04/01/2015 - "Costeff syndrome is a rare genetic neuro-ophthalmological syndrome consisting of early-onset bilateral optic atrophy along with a progressive complex motor disorder with elevated levels of urinary 3-methylglutaconic acid and 3-methylglutaric acid. " 06/01/2010 - "3-Methylglutaconic aciduria type III (3-MGCA type III), caused by recessive mutations in the 2-exon gene OPA3, is characterized by early-onset bilateral optic atrophy, later-onset extrapyramidal dysfunction, and increased urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid. "
5.	Phospholipids (Phosphatides)FDA LinkGeneric 11/01/2013 - "The latter should be further classified and named by their defective protein or the historical name as follows: i) defective phospholipid remodelling (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome) and ii) mitochondrial membrane associated disorders (OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect). "
6.	LipidsIBA 11/15/2012 - "These findings indicate that skeletal and metabolic impairment in Costeff syndrome may be more significant than previously thought and that uncoupling lipid uptake from lipid metabolism in BAT may represent a novel approach to controlling WAT mass in obesity."
7.	Leucine (L-Leucine)FDA Link 01/01/2014 - "For all other subtypes, also denoted "Secondary 3-methylglutaconic acidurias" (TAZ defect or Barth syndrome, SERAC1 defect or MEGDEL syndrome, OPA3 defect or Costeff syndrome, DNAJC19 defect or DCMA syndrome, TMEM70 defect, "not otherwise specified (NOS) 3-MGA-uria"), the origin of 3-methylglutaconic aciduria remains enigmatic but is hypothesized to be independent from leucine catabolism. "
8.	Mitochondrial DNA (mtDNA)IBA 05/01/2009 - "We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3). "
9.	Cardiolipins (Cardiolipin)IBA 05/01/2006 - "3-Methylglutaconic aciduria type I, Barth syndrome, and Costeff syndrome were excluded as the activity of 3-methylglutaconyl-CoA hydratase, the cardiolipin levels, and molecular analysis of the OPA3 gene, respectively, showed no abnormalities. "
10.	methylglutaconyl-CoA hydrataseIBA 05/01/2006 - "3-Methylglutaconic aciduria type I, Barth syndrome, and Costeff syndrome were excluded as the activity of 3-methylglutaconyl-CoA hydratase, the cardiolipin levels, and molecular analysis of the OPA3 gene, respectively, showed no abnormalities. "

Costeff optic atrophy syndrome

Disease Context: Research Results

Related Diseases

Experts

Drugs and Biologics