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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 74

Hereditary spastic paraplegia 74

Synonyms
Spastic paraplegia 74, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-74 (SPG74) is an autosomal recessive neurologic disorder characterized by onset of slowly progressive lower limb spasticity, optic atrophy, and peripheral neuropathy in the first decade (summary by Lossos et al., 2015). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Available tests

19 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C1orf69, MMDS3, SPG74, IBA57
    Summary: iron-sulfur cluster assembly factor IBA57

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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