spastic paraplegia 80, autosomal dominant
MONDO:0032737Mondo
Findings
No curated finding names spastic paraplegia 80, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Lower limb hyperreflexiaHPOHP:0002395
- 30 of 30 reported patients
- Babinski signHPOHP:0003487
- 29 of 30 reported patients
- Lower limb spasticityHPOHP:0002061
- 29 of 30 reported patients
- Upper limb hyperreflexiaHPOHP:0007350
- 26 of 30 reported patients
- Urinary urgencyHPOHP:0000012
- 11 of 30 reported patients
- Dysmetric saccadesHPOHP:0000641
- 7 of 30 reported patients
- Gaze-evoked nystagmusHPOHP:0000640
- 7 of 30 reported patients
- Limb ataxiaHPOHP:0002070
- 7 of 30 reported patients
- Mental deteriorationHPOHP:0001268
- 7 of 30 reported patients
- DysarthriaHPOHP:0001260
- 1 of 30 reported patients
- Pes cavusHPOHP:0001761
- 1 of 30 reported patients
- Upper limb spasticityHPOHP:0006986
- 1 of 30 reported patients
Show the remaining 5
- BradykinesiaHPOHP:0002067
- 0 of 30 reported patients
- DystoniaHPOHP:0001332
- 0 of 30 reported patients
- Supranuclear gaze palsyHPOHP:0000605
- 0 of 30 reported patients
- Gait disturbanceHPOHP:0001288
- Spastic paraplegiaHPOHP:0001258
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.
- UBAP1HGNC:12461
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: spastic paraplegia 80, autosomal dominant
- Also called
- autosomal dominant spastic paraplegia type 80SPG80