hereditary spastic paraplegia 57
gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function.
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Summary
hereditary spastic paraplegia 57 is a rare disease[1]. It is known by 8 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: hereditary spastic paraplegia[4], spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder[5], autosomal recessive disease[6]
- Prevalence: 0.000001[7]
- Health specialty: neurology[8]
- Genetic association: TFG[9]
- Age of onset: infantile onset[10]
- Exact match: http://purl.obolibrary.org/obo/DOID_0110809[11], http://identifiers.org/doid/DOID:0110809[12], http://www.orpha.net/ORDO/Orphanet_431329[13]
- On focus list of Wikimedia project: WikiProject Medicine[14]
- Has phenotype: acute visual loss[15], optic atrophy[16], paraplegia[17], muscle weakness[18], abnormal reflex[19], Babinski sign[20], Q141815303[21], Q141815321[22], Q141815683[23], Q141815684[24], childhood onset[25], spasticity[26], Q141815195[27], Q141815456[28]
- P14914: D431329[29]