hereditary spastic paraplegia 8
Findings
No curated finding names hereditary spastic paraplegia 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.
Definition from the Mondo Disease Ontology (MONDO:0011339), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Insidious onset · Middle age onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
25 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, annotations 2026-09-02.
- Babinski signHPOHP:0003487
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- 10 of 10 reported patients
- Frequent (30% to 79% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- 10 of 10 reported patients
- Lower limb spasticityHPOHP:0002061
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Spastic paraplegiaHPOHP:0001258
- 10 of 10 reported patients
- Degeneration of the lateral corticospinal tractsHPOHP:0002314
Show the remaining 13
- Limb ataxiaHPOHP:0002070
- Frequent (30% to 79% of cases)
- Limb dysmetriaHPOHP:0002406
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- Peroneal muscle atrophyHPOHP:0009049
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- 1 of 10 reported patients
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- WASHC5HGNC:28984
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 8
- Also called
- autosomal dominant spastic paraplegia type 8hereditary spastic paraplegia caused by mutation in WASHC5hereditary spastic paraplegia type 8SPG8WASHC5 hereditary spastic paraplegia