Ataxia due to Refsum disease (Q41036): Difference between revisions
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Ataxia no contexto da doença de Refsum, uma doença autossômica recessiva rara causada por uma mutação no gene PHYH, que codifica a hidroxilase peroxissômica fitanoil-CoA, ou no PEX7, que codifica a proteína receptora da peroxina 7. O início é geralmente no final da infância, apresentando inicialmente retinite pigmentosa, com progressão para ataxia e polineuropatia crônica. | |||
| description / en | description / en | ||
Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy. | |||
Revision as of 07:05, 13 August 2026
Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 8A03.12 |
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| English | Ataxia due to Refsum disease |
Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy. |
