Disorder "Friedreich Ataxia"
Found 1 record
Disorder information
Disorder name:
Friedreich Ataxia
Disoder ID:
OMIM entry:
Synonyms:
Friedreich ataxia 1,Friedreich's ataxia,Friedreich's tabes
Definition:
Friedreich's ataxia (FRDA, or FA) is an autosomal recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs and impaired speech that worsens over time. ... Diagnosis is based on physical symptoms and patient history and is confirmed by genetic testing.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered onset time(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| mtDNA | mtDNA:c.C13806A | Expressivity | Altered onset time | P<0.001 | Heteroplasmic C13806A polymorphisms were associated with Iranian FRDA patientsmore | more |
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