hereditary spastic paraplegia 23
Findings
No curated finding names hereditary spastic paraplegia 23 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.
Definition from the Mondo Disease Ontology (MONDO:0010046), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
26 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
- 4 of 4 reported patients
- Hyperpigmentation in sun-exposed areasHPOHP:0005586
- 4 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Lower limb muscle weaknessHPOHP:0007340
- 4 of 4 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Multiple lentigines
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.
- DSTYKHGNC:29043
- Strong · G2P · Autosomal recessive · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: hereditary spastic paraplegia 23
- Also called
- autosomal recessive complex spastic paraplegia caused by mutation in DSTYKDSTYK autosomal recessive complex spastic paraplegiahereditary spastic paraplegia type 23Lison syndromespastic paraparesis-vitiligo-premature graying-characteristic facies syndromespastic paraplegia 23spastic paraplegia with pigmentary abnormalitiesSPG23