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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 57

Hereditary spastic paraplegia 57

Synonyms
Spastic paraplegia 57, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

An extremely rare, complex type of hereditary spastic paraplegia, with onset in infancy of pronounced leg spasticity (leading to the inability to walk independently), reduced visual acuity due to optic atrophy and distal wasting of the hands and feet due to an axonal demyelinating sensorimotor neuropathy. Caused by mutations in the TFG gene (3q12.2) encoding protein TFG, which is thought to play a role in ER microtubular architecture and function. [from SNOMEDCT_US]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HMSNP, SPG57, TF6, TRKT3, TFG
    Summary: trafficking from ER to golgi regulator

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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