Pure or complex autosomal recessive…

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Pure or complex autosomal recessive spastic paraplegia

ORPHA:320346Clinical group

Also called Pure or complicated autosomal recessive spastic paraplegia

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal recessive
Classified as
Clinical group

Genes reported in subtypes

AP5Z1CYP2U1CYP7B1FARS2KIF1ANT5C2SPG11SPG14SPG27SPG7TMEM63C

Orphanet records these genes on 11 more specific entries under this disorder, not on this entry itself:

Autosomal recessive spastic paraplegia type 11Autosomal recessive spastic paraplegia type 14Autosomal recessive spastic paraplegia type 27Autosomal recessive spastic paraplegia type 45Autosomal recessive spastic paraplegia type 48Autosomal recessive spastic paraplegia type 56Autosomal recessive spastic paraplegia type 5AAutosomal recessive spastic paraplegia type 77Autosomal recessive spastic paraplegia type 87Autosomal spastic paraplegia type 30Spastic paraplegia type 7

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 17915UMLS C5679887

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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