Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
genetic disorder |
| gptkbp:abbreviation |
gptkb:FRDA
|
| gptkbp:affects |
gptkb:nervous_system
cardiovascular system musculoskeletal system |
| gptkbp:causedBy |
mutation in FXN gene
|
| gptkbp:complication |
gptkb:arrhythmia
gptkb:diabetes heart failure |
| gptkbp:containsGene |
gptkb:FXN
|
| gptkbp:diagnosedBy |
neurological examination
MRI genetic testing electromyography echocardiogram |
| gptkbp:firstDescribed |
gptkb:Nikolaus_Friedreich
1863 |
| gptkbp:frequency |
1 in 40,000 to 50,000 people
|
| gptkbp:hasCarrierFrequency |
1 in 90 to 100 people
|
| gptkbp:hasGeneticMutationType |
gptkb:GAA_trinucleotide_repeat_expansion
|
| gptkbp:hasInheritanceRisk |
25% if both parents are carriers
|
| gptkbp:hasOrphanetID |
ORPHA95
|
| gptkbp:hasProteinDeficiency |
gptkb:frataxin
|
| gptkbp:hasResearchCenter |
gene therapy
iron chelation therapy antioxidant therapy |
| https://www.w3.org/2000/01/rdf-schema#label |
Friedreich's ataxia
|
| gptkbp:ICD-10_code |
G11.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D001285
|
| gptkbp:OMIM |
229300
|
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
progressive
reduced life expectancy wheelchair dependence within 10-20 years of onset |
| gptkbp:symptom |
gptkb:diabetes_mellitus
muscle weakness scoliosis ataxia cardiomyopathy loss of coordination dysarthria |
| gptkbp:treatment |
supportive care
physical therapy speech therapy cardiac management |
| gptkbp:bfsParent |
gptkb:Ataxia_with_vitamin_E_deficiency
|
| gptkbp:bfsLayer |
5
|