hereditary spastic paraplegia 53
Findings
No curated finding names hereditary spastic paraplegia 53 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.
Definition from the Mondo Disease Ontology (MONDO:0013962), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
24 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.
- HyperreflexiaHPOHP:0001347
- 9 of 9 reported patients
- Joint hypermobilityHPOHP:0001382
- 8 of 8 reported patients
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Lower limb hypertoniaHPOHP:0006895
- 9 of 9 reported patients
- ClonusHPOHP:0002169
- 6 of 9 reported patients
- Very frequent (80% to 99% 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.
- VPS37AHGNC:24928
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
5 names
Resolves to: hereditary spastic paraplegia 53
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in VPS37Aautosomal recessive spastic paraplegia type 53hereditary spastic paraplegia type 53SPG53VPS37A autosomal recessive complex spastic paraplegia