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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 6

Hereditary spastic paraplegia 6

Synonyms
Familial spastic paraplegia autosomal dominant 3; SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; Spastic Paraplegia 6
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment. Caused by mutations in the NIPA1 gene (15q11.2) encoding the magnesium transporter NIPA1. [from SNOMEDCT_US]

Available tests

28 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FSP3, SLC57A1, SPG6, NIPA1
    Summary: NIPA magnesium transporter 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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