hereditary spastic paraplegia 9A
MONDO:0011006Mondo
Findings
No curated finding names hereditary spastic paraplegia 9A 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 · Slowly progressive · Young adult onset
HPO, annotations 2026-09-02
Features
44 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
- 16 of 16 reported patients
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- 15 of 16 reported patients
- Spastic gaitHPOHP:0002064
- 14 of 15 reported patients
- Very frequent (80% to 99% of cases)
- Hoffmann signHPOHP:0031993
- 8 of 9 reported patients
- Upper limb hyperreflexiaHPOHP:0007350
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- 12 of 16 reported patients
- Frequent (30% to 79% of cases)
- Motor polyneuropathyHPOHP:0007178
- 3 of 4 reported patients
- Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
- Abnormality of pain sensationHPOHP:0010832
- Frequent (30% to 79% of cases)
- Lower limb hypertoniaHPOHP:0006895
- Frequent (30% to 79% of cases)
- Pes cavusHPOHP:0001761
- 7 of 16 reported patients
- Frequent (30% to 79% of cases)
- Abnormal cerebellum morphologyHPOHP:0001317
- Occasional (5% to 29% of cases)
Show the remaining 32
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Occasional (5% to 29% of cases)
- Abnormal spinal cord dorsal column morphologyHPOHP:0011397
- Occasional (5% to 29% of cases)
- AnarthriaHPOHP:0002425
- Occasional (5% to 29% of cases)
- Corpus callosum atrophyHPOHP:0007371
- 1 of 16 reported patients
- Occasional (5% to 29% of cases)
- DementiaHPOHP:0000726
- Occasional (5% to 29% of cases)
- Developmental cataractHPOHP:0000519
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.
- ALDH18A1HGNC:9722
- Moderate · Ambry Genetics · Semidominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: hereditary spastic paraplegia 9A
- Also called
- AD-SPG9Ahereditary spastic paraplegia type 9ASPG9A