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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 23

Hereditary spastic paraplegia 23

Synonyms
Autosomal recessive spastic paraplegia type 23; LISON SYNDROME; SPASTIC PARAPARESIS, VITILIGO, PREMATURE GRAYING, CHARACTERISTIC FACIES; SPASTIC PARAPLEGIA WITH PIGMENTARY ABNORMALITIES; SPG 23; Spastic paraplegia 23; Spastic paraplegia and pigmentary abnormalities; Spastic paraplegia vitiligo premature graying and characteristic facies
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-23 (SPG23) is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAKUT1, DustyPK, HDCMD38P, RHDNS1, RIP5, RIPK5, SPG23, DSTYK
    Summary: dual serine/threonine and tyrosine protein kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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