hereditary spastic paraplegia
Findings
No curated finding names hereditary spastic paraplegia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.
Definition from the Mondo Disease Ontology (MONDO:0019064), read 2026-09-29. CC BY 4.0.
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.
- ParaplegiaMondoHP:0010550
- SpasticityMondoHP:0001257
Genes
17 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AP5Z1HGNC:22197
- Definitive · ClinGen · Autosomal recessive · 2022
- ARL6IP1HGNC:697
- Definitive · ClinGen · Autosomal recessive · 2022
- CYP2U1HGNC:20582
- Definitive · ClinGen · Autosomal recessive · 2023
- DDHD1HGNC:19714
- Definitive · ClinGen · Autosomal recessive · 2022
- UCHL1HGNC:12513
- Definitive · ClinGen · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
Where it sits
- Narrower terms (45)
- ADAR-related hereditary spastic paraplegia
- Charcot-Marie-Tooth disease type 5
- complex hereditary spastic paraplegia
- early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
- hereditary spastic paraplegia 10
- hereditary spastic paraplegia 13
- hereditary spastic paraplegia 14
- hereditary spastic paraplegia 16
- hereditary spastic paraplegia 2
- hereditary spastic paraplegia 30
- hereditary spastic paraplegia 31
- hereditary spastic paraplegia 33
- hereditary spastic paraplegia 35
- hereditary spastic paraplegia 3A
- hereditary spastic paraplegia 4
- hereditary spastic paraplegia 47
- hereditary spastic paraplegia 48
Other names
5 names
Resolves to: hereditary spastic paraplegia
- Also called
- familial spastic paraplegiahereditary spastic paraparesisHSPSPGStrümpell-Lorrain disease