ORPHA:320385
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Also known as: Autosomal recessive spastic paraplegia type 49 · HSAN due to TECPR2 mutation · SPG49
Publications
113
64.9th percentile
Trials
0
Interventional, condition-specific
Researchers
962
Distinct authors in sample
Gene link
TECPR2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic peripheral characterized by early evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic , gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have and features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.
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:0014016
- OMIM:615031
- UMLS:C3542549
Additional Mondo synonyms (6)
TECPR2 hereditary spastic paraplegia · autosomal recessive spastic paraplegia type 49 · hereditary spastic paraplegia 49 · hereditary spastic paraplegia caused by mutation in TECPR2 · hereditary spastic paraplegia type 49 · neuropathy, hereditary sensory and autonomic, type IX, with developmental delay
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
Definitive — TECPR2
- LiteraturePresent
113 matched papers (91 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 (TECPR2).
GenCC classification: Definitive.
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?
113
113 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.
113 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).
91 in the last 10 years · high confidence · 64.9th percentile (publications denominator)
Phrase hits: 113 · MeSH hits: 0
Who's working on it?
962
Distinct author names in 113 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.
- 01Elazar Z9 papers · 2026
Department of Biomolecular Sciences, The Weizmann Institute of Science, Rehovot, Israel.
Papers in Europe PMC - 02Stevanin G9 papers · 2021
Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France. giovanni.stevanin@upmc.fr.
Papers in Europe PMC - 03Ebrahimi-Fakhari D7 papers · 2025
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. Electronic address: darius.ebrahimi-fakhari@childrens.harvard.edu.
Papers in Europe PMC - 04Behrends C5 papers · 2025
Munich Cluster for Systems Neurology (SyNergy), Medical Faculty, Ludwig-Maximilians-University München, Munich, Germany. christian.behrends@mail03.med.uni-muenchen.de.
Papers in Europe PMC - 05Ben-Zeev B5 papers · 2021
Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Papers in Europe PMC - 06Heimer G5 papers · 2021
Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.
Papers in Europe PMC - 07Saffari A5 papers · 2025
Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.
Papers in Europe PMC - 08Shatz O5 papers · 2026
Department of Biomolecular Sciences, The Weizmann Institute of Science, Rehovot, Israel.
Papers in Europe PMC - 09Darios F4 papers · 2020
Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
Papers in Europe PMC - 10Durr A4 papers · 2016
Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, Paris, France.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation" OR "Autosomal recessive spastic paraplegia type 49" OR "HSAN due to TECPR2 mutation" OR "SPG49" OR "TECPR2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia 49" OR "hereditary spastic paraplegia caused by mutation in TECPR2" OR "hereditary spastic paraplegia type 49" OR "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation" OR "Autosomal recessive spastic paraplegia type 49" OR "HSAN due to TECPR2 mutation" OR "SPG49" OR "TECPR2 hereditary spastic paraplegia" OR "hereditary spastic paraplegia 49" OR "hereditary spastic paraplegia caused by mutation in TECPR2" OR "hereditary spastic paraplegia type 49" OR "neuropathy, hereditary sensory and autonomic, type IX, with developmental delay" OR "TECPR2"
Recall-expansion terms: TECPR2
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T13:33:04.055Z