ORPHA:100999

Autosomal dominant spastic paraplegia type 19

high confidenceDisorder

Also known as: SPG19

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

Publications

41.2th percentile

Trials

Interventional, condition-specific

Researchers

228

Distinct authors in sample

Gene link

—

Readiness

1/6

Stages with a signal

Clinical definition (Orphanet)

A pure form of spastic paraplegia characterized by a slowly and relatively benign spastic paraplegia presenting in adulthood with spastic gait, lower limb hyperreflexia, extensor plantar responses, bladder dysfunction (urinary urgency and/or incontinence), and mild sensory and motor peripheral .

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 (2)

autosomal dominant spastic paraplegia type 19 · hereditary spastic paraplegia type 19

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.”

1/6 stages with a signal

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

Gene identifiedNot found
No GenCC disease–gene assertion in this build
LiteraturePresent
46 matched papers (26 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

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?

46 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.

46 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).

26 in the last 10 years · high confidence · 41.2th percentile (publications denominator)

Phrase hits: 46 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

228

Distinct author names in 46 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.

01
Wang X10 papers · 2024
Key Laboratory of Agriculture Biological Functional Gene of Heilongjiang Provincial Education Committee, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China. wangneau2013@163.com.
Papers in Europe PMC
02
Xiang W10 papers · 2024
Key Laboratory of Agriculture Biological Functional Gene of Heilongjiang Provincial Education Committee, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China. xiangwensheng@neau.edu.cn.
Papers in Europe PMC
03
Zhao J7 papers · 2024
1Key Laboratory of Agriculture Biological Functional Gene of Heilongjiang Provincial Education Committee, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin 150030, PR China.
Papers in Europe PMC
04
Liu C6 papers · 2016
Key Laboratory of Agriculture Biological Functional Gene of Heilongjiang Provincial Education Committee, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China.
Papers in Europe PMC
05
Li J4 papers · 2024
College of Animal Science and Technology, Southwest University, Chongqing 402460, China.
Papers in Europe PMC
06
Wang H4 papers · 2024
College of Animal Science and Technology, Southwest University, Chongqing 402460, China.
Papers in Europe PMC
07
Zhang X4 papers · 2015
School of Life Science, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China.
Papers in Europe PMC
08
Li C3 papers · 2023
Key Laboratory of Agricultural Microbiology of Heilongjiang Province, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China.
Papers in Europe PMC
09
Zhang Y3 papers · 2024
School of Life Science, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China.
Papers in Europe PMC
10
Guan X2 papers · 2016
Key Laboratory of Agriculture Biological Functional Gene of Heilongjiang Provincial Education Committee, Northeast Agricultural University, No. 59 Mucai Street, Xiangfang District, Harbin, 150030, People's Republic of China.
Papers in Europe PMC

Clinical research

Is a treatment being tested?

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 2026-07-26

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 dominant spastic paraplegia type 19" OR "SPG19" OR "hereditary spastic paraplegia type 19"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spastic paraplegia 19, autosomal dominant

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Autosomal dominant spastic paraplegia type 19" OR "SPG19" OR "hereditary spastic paraplegia type 19" OR "Spastic paraplegia 19, autosomal dominant"

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

Ingested 2026-07-27T07:10:37.464Z