hereditary spastic paraplegia 5A
Findings
No curated finding names hereditary spastic paraplegia 5A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of hereditary spastic paraplegia characterized by either a pure phenotype of slowly progressive spastic paraplegia of the lower extremities with bladder dysfunction and pes cavus or a complex presentation with additional manifestations including cerebellar signs, nystagmus, distal or generalized muscle atrophy and cognitive impairment. Age of onset is highly variable, ranging from early childhood to adulthood. White matter hyperintensity and cerebellar and spinal cord atrophy may be noted, on brain magnetic resonance imaging, in some patients.
Definition from the Mondo Disease Ontology (MONDO:0010047), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
32 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
- 16 of 16 reported patients
- Lower limb spasticityHPOHP:0002061
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Spastic gaitHPOHP:0002064
- 16 of 16 reported patients
- Babinski signHPOHP:0003487
- 15 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- 15 of 16 reported patients
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.
- CYP7B1HGNC:2652
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: hereditary spastic paraplegia 5A
- Also called
- autosomal recessive spastic paraplegia type 5ACYP7B1 pure or complex autosomal recessive spastic paraplegiahereditary spastic paraplegia type 5Apure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1spastic paraplegia type 5B, recessiveSPG5A