ORPHA:101003
Autosomal recessive spastic paraplegia type 23
Also known as: Lison syndrome · SPG23
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
52
45.2th percentile
Trials
0
Interventional, condition-specific
Researchers
340
Distinct authors in sample
Gene link
DSTYK
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
spastic paraplegia type 23 (SPG23) is a rare, complex type of spastic paraplegia that presents in childhood with spastic paraplegia, associated with peripheral , skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 has been mapped to a locus on chromosome 1q24-q32.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010046
- MeSH:C536859
- OMIM:270750
- UMLS:C0796019
Additional Mondo synonyms (6)
DSTYK autosomal recessive complex spastic paraplegia · autosomal recessive complex spastic paraplegia caused by mutation in DSTYK · hereditary spastic paraplegia type 23 · spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome · spastic paraplegia 23 · spastic paraplegia with pigmentary abnormalities
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — DSTYK
- LiteraturePresent
52 matched papers (32 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (DSTYK).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
52
52 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
52 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
32 in the last 10 years · high confidence · 45.2th percentile (publications denominator)
Phrase hits: 52 · MeSH hits: 0
Who's working on it?
340
Distinct author names in 52 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Reid E3 papers · 2017
Cambridge Institute for Medical Research (CIMR), University of Cambridge, Cambridge CB2 0XY, UK; Department of Medical Genetics, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 0QQ, UK.
Papers in Europe PMC - 02Abu-Mouch S2 papers · 2017
Liver Unit, Department of Internal Medicine B, Hillel Yaffe Medical Center, Hadera 38100, Israel.
Papers in Europe PMC - 03Balseiro-Romero M2 papers · 2017
Department of Soil Science and Agricultural Chemistry, University of Santiago de Compostela, Campus Vida, Santiago de Compostela, Spain.
Papers in Europe PMC - 04Blumen SC2 papers · 2017
Department of Neurology, Hillel-Yaffe Medical Center, Hadera. Israel.
Papers in Europe PMC - 05Calvo A2 papers · 2022
Program in Solid Tumors, Center for Applied Medical Research (CIMA)-University of Navarra, Pamplona, Spain.
Papers in Europe PMC - 06Chen L2 papers · 2020
Department of Wound Repair and Rehabilitation, State Key Laboratory of Trauma, Burns and Combined Injury, Trauma Center, Research Institute of Surgery, Daping Hospital, Army Medical University, Chongqing, 400042, China. linchen70@163.com.
Papers in Europe PMC - 07Chen Y2 papers · 2024
Department of Gynecology Shenzhen Second People's Hospital the First Affiliated Hospital of Shenzhen University Shenzhen China.
Papers in Europe PMC - 08Gkorezis P2 papers · 2017
Centre for Environmental Sciences, Hasselt University, Diepenbeek, Belgium.
Papers in Europe PMC - 09Ho SL2 papers · 2017
Division of Neurology, Department of Medicine, University of Hong Kong, Hong Kong, P. R. China; Research Centre of Heart, Brain, Hormone and Healthy Aging, University of Hong Kong, Hong Kong, P. R. China.
Papers in Europe PMC - 10Huang J2 papers · 2024
Department of Wound Repair and Rehabilitation, State Key Laboratory of Trauma, Burns and Combined Injury, Trauma Center, Research Institute of Surgery, Daping Hospital, Army Medical University, Chongqing, 400042, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Autosomal recessive spastic paraplegia type 23" OR "Lison syndrome" OR "SPG23" OR "DSTYK autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" OR "hereditary spastic paraplegia type 23" OR "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" OR "spastic paraplegia 23" OR "spastic paraplegia with pigmentary abnormalities"
MeSH descriptor terms unioned into the query: Spastic paraplegia 23
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Autosomal recessive spastic paraplegia type 23" OR "Lison syndrome" OR "SPG23" OR "DSTYK autosomal recessive complex spastic paraplegia" OR "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" OR "hereditary spastic paraplegia type 23" OR "spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" OR "spastic paraplegia 23" OR "spastic paraplegia with pigmentary abnormalities" OR "DSTYK"
Recall-expansion terms: DSTYK
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T07:11:14.988Z