hereditary spastic paraplegia 56
Findings
No curated finding names hereditary spastic paraplegia 56 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 CYP2U1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014015), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Lower limb hyperreflexiaHPOHP:0002395
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- 5 of 7 reported patients
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Spastic gaitHPOHP:0002064
- Frequent (30% to 79% of cases)
- Tip-toe gaitHPOHP:0030051
- 2 of 7 reported patients
Show the remaining 6
- Abnormal globus pallidus morphologyHPOHP:0002453
- Occasional (5% to 29% of cases)
- Cognitive impairmentHPOHP:0100543
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- DystoniaHPOHP:0001332
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- Spastic paraplegiaHPOHP:0001258
- Occasional (5% to 29% of cases)
- Motor delayHPOHP:0001270
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.
- CYP2U1HGNC:20582
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary spastic paraplegia 56
- Also called
- autosomal recessive spastic paraplegia type 56CYP2U1 hereditary spastic paraplegiahereditary spastic paraplegia caused by mutation in CYP2U1hereditary spastic paraplegia type 56SPG56