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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCosteff syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Costeff syndrome comprising 13 curated genes according to the clinical signs

ID
CP1991
Number of genes
13 Accredited laboratory test
Examined sequence length
0,6 kb (Core-/Core-canditate-Genes)
17,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
OPA3540AD
AGK1269AR
AUH1020AR
CLPB2034AR
DNAJC19351AR
HTRA21377AR
POLG3720AR
SERAC11965AR
SUCLA21392AR
SUCLG11041AR
TAFAZZIN879AR
TIMM501455AR
TMEM70324AR

Informations about the disease

Clinical Comment

Optic atrophy and/or choreoathetoid movement disorder with onset before age of 10 years

 

Synonyms
  • Alias: 3-methylglutaconic aciduria, type III (OPA3)
  • Alias: Iraqi-Jewish 'Optic atrophy plus' (OPA3)
  • Alias: Optic atrophy 3 with cataract (OPA3)
  • Alias: Optic atrophy 3, AR (OPA3)
  • Alias: Optic atrophy plus syndrome (OPA3)
  • Alias: Optic atrophy, infantile, with chorea + spastic paraplegia (OPA3)
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome SERAC1)
  • 3-methylglutaconic aciduria, type I (AUH)
  • 3-methylglutaconic aciduria, type IX (TIMM50)
  • 3-methylglutaconic aciduria, type V (DNAJC19)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement, neutropenia (CLPB)
  • 3-methylglutaconic aciduria, type VIII (HTRA2)
  • Allelic: Parkinson disease 13 (HTRA)
  • Barth syndrome (TAFAZZZIN, TAZ)
  • Cataract 38, AR (AGK)
  • Mito. DNA depletion syndrome 5 [encephalomyopathic with/-out methylmalonic aciduria] (SUCLA2)
  • Mito. DNA depletion syndrome 9 [encephalomyopathic type with methylmalonic aciduria] (SUCLG1)
  • Mitochondrial DNA depletion syndrome 4A [Alpers type] + 4B [MNGIE type] (POLG)
  • Mitochondrial complex V [ATP synthase] deficiency, nuclear type 2 (TMEM70)
  • Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
  • Progressive external ophthalmoplegia, AD 1 (POLG)
  • Progressive external ophthalmoplegia, AR 1 (POLG)
  • Sengers syndrome (AGK)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H47.0

Bioinformatics and clinical interpretation

No text defined