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ORPHA:101003

Autosomal recessive spastic paraplegia type 23

medium confidenceDisorder

Also known as: Lison syndrome · SPG23

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

358

75.6th percentile

Trials

0

Interventional, condition-specific

Researchers

340

Distinct authors in sample

Gene link

DSTYK

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — DSTYK

  2. LiteraturePresent

    358 matched papers (298 in last 10 years) Source

  3. Phenotype characterisedPresent

    31 HPO annotations (e.g. Multiple lentigines; Scoliosis; Mild intellectual disability) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

31

Associated phenotypes · MONDO:0010046

  • Multiple lentigines
  • Scoliosis
  • Mild intellectual disability
  • Lower limb muscle weakness
  • Retrognathia

Showing 5 of 31 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

358

358 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=3967) is 59.

358 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

298 in the last 10 years · medium confidence · 75.6th percentile (publications denominator)

Phrase hits: 52 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Reid 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
  2. 02
    Abu-Mouch S2 papers · 2017

    Liver Unit, Department of Internal Medicine B, Hillel Yaffe Medical Center, Hadera 38100, Israel.

    Papers in Europe PMC
  3. 03
    Balseiro-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
  4. 04
    Blumen SC2 papers · 2017

    Department of Neurology, Hillel-Yaffe Medical Center, Hadera. Israel.

    Papers in Europe PMC
  5. 05
    Calvo A2 papers · 2022

    Program in Solid Tumors, Center for Applied Medical Research (CIMA)-University of Navarra, Pamplona, Spain.

    Papers in Europe PMC
  6. 06
    Chen 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
  7. 07
    Chen Y2 papers · 2024

    Department of Gynecology Shenzhen Second People's Hospital the First Affiliated Hospital of Shenzhen University Shenzhen China.

    Papers in Europe PMC
  8. 08
    Gkorezis P2 papers · 2017

    Centre for Environmental Sciences, Hasselt University, Diepenbeek, Belgium.

    Papers in Europe PMC
  9. 09
    Ho 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
  10. 10
    Huang 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Autosomal recessive spastic paraplegia type 23 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR (MESH:"Spastic paraplegia 23") OR ("DSTYK" OR "DSTYK syndrome" OR "DSTYK-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (358) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-27T07:11:14.988Z