hereditary spastic paraplegia 13
MONDO:0011532Mondo
Findings
No curated finding names hereditary spastic paraplegia 13 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 HSPD1 gene.
Definition from the Mondo Disease Ontology (MONDO:0011532), read 2026-09-29. CC BY 4.0.
Features
16 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.
- Spastic paraplegiaHPOHP:0001258
- Very frequent (80% to 99% of cases)
- Urinary bladder sphincter dysfunctionHPOHP:0002839
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Upper limb hyperreflexiaHPOHP:0007350
- Frequent (30% to 79% of cases)
- Urinary incontinenceHPOHP:0000020
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- Occasional (5% to 29% of cases)
Show the remaining 4
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- Urinary urgencyHPOHP:0000012
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Very rare (1% to 4% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Very rare (1% to 4% 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.
- HSPD1HGNC:5261
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: hereditary spastic paraplegia 13
- Also called
- hereditary spastic paraplegia caused by mutation in HSPD1hereditary spastic paraplegia type 13HSPD1 hereditary spastic paraplegiaSPG13