Autosomal recessive pure spastic…

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Autosomal recessive pure spastic paraplegia

ORPHA:100982Clinical group

Also called Autosomal recessive pure HSP · Autosomal recessive pure SPG · Autosomal recessive uncomplicated HSP · Autosomal recessive uncomplicated SPG · Autosomal recessive uncomplicated 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

DDHD1ERLIN1HPDLREEP2RNASEH2BSPG24ZFR

Orphanet records these genes on 7 more specific entries under this disorder, not on this entry itself:

Autosomal recessive spastic paraplegia type 24Autosomal recessive spastic paraplegia type 28Autosomal recessive spastic paraplegia type 62Autosomal recessive spastic paraplegia type 71Autosomal recessive spastic paraplegia type 83Autosomal spastic paraplegia type 72RNASEH2B-related hereditary spastic paraplegia

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

GARD 19773MONDO 15090UMLS C5680376

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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