Autosomal recessive complex spastic…

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Autosomal recessive complex spastic paraplegia

ORPHA:100981Clinical group

Also called Autosomal recessive complex HSP · Autosomal recessive complex SPG · Autosomal recessive complicated HSP · Autosomal recessive complicated SPG · Autosomal recessive complicated 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

AMPD2ARL6IP1ARSIB4GALNT1C19ORF12DDHD2DSTYKENTPD1FA2HGBA2GJC2PNPLA6SELENOISPARTSPG21SPG23SPG25SPG32USP8VPS37AWDR48

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionAutosomal recessive spastic paraplegia type 20Autosomal recessive spastic paraplegia type 21Autosomal recessive spastic paraplegia type 23Autosomal recessive spastic paraplegia type 25Autosomal recessive spastic paraplegia type 26Autosomal recessive spastic paraplegia type 32Autosomal recessive spastic paraplegia type 35Autosomal recessive spastic paraplegia type 39Autosomal recessive spastic paraplegia type 43Autosomal recessive spastic paraplegia type 44Autosomal recessive spastic paraplegia type 46Autosomal recessive spastic paraplegia type 53Autosomal recessive spastic paraplegia type 54Autosomal recessive spastic paraplegia type 59Autosomal recessive spastic paraplegia type 60Autosomal recessive spastic paraplegia type 61Autosomal recessive spastic paraplegia type 63Autosomal recessive spastic paraplegia type 64Autosomal recessive spastic paraplegia type 66

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 19772MONDO 15089UMLS C5680377

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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