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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 13

Hereditary spastic paraplegia 13

Synonyms
SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT; Spastic paraplegia 13
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare hereditary spastic paraplegia with characteristics of progressive spastic paraplegia with pyramidal signs in the lower limbs, decreased vibration sense, and increased reflexes in the upper limbs. Caused by heterozygous mutation in the HSPD1 on chromosome 2q33. [from SNOMEDCT_US]

Available tests

43 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (43 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CPN60, GROEL, HLD4, HSP-60, HSP60, HSP65, HuCHA60, SPG13, HSPD1
    Summary: heat shock protein family D (Hsp60) member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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