ORPHA:309031
Pancreatic triacylglycerol lipase deficiency
Also known as: Pancreatic triglyceride lipase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4
7th percentile
Trials
0
Interventional, condition-specific
Researchers
16
Distinct authors in sample
Gene link
PNLIP
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic disorder of lipid metabolism characterized by to childhood onset of impaired absorption of dietary fat with greasy/oily and voluminous stools, but normal growth and development. Decreased levels of fecal elastase, as well as low serum levels of the fat-soluble vitamins A, D, and E, have been reported.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013700
- OMIM:614338
- UMLS:C3280527
- NCIT:C129030
Additional Mondo synonyms (1)
pancreatic triglyceride lipase deficiency
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 — PNLIP
- LiteraturePresent
4 matched papers (1 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 (PNLIP).
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?
4
4 papers have ever been indexed 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.
4 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).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
16
Distinct author names in 4 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.
- 01Lowe ME2 papers · 2015
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. Electronic address: Loweme2@upmc.edu.
Papers in Europe PMC - 02Camarota LM1 paper · 2003Papers in Europe PMC
- 03Cheng L1 paper · 2024
Institute of Bast Fiber Crops, Chinese Academy of Agricultural Science, No. 348 Xianjia Road, Changsha 410205, China.
Papers in Europe PMC - 04Duan S1 paper · 2024
Institute of Bast Fiber Crops, Chinese Academy of Agricultural Science, No. 348 Xianjia Road, Changsha 410205, China.
Papers in Europe PMC - 05Haughney M1 paper · 2015
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Papers in Europe PMC - 06Howles PN1 paper · 2003Papers in Europe PMC
- 07Huggins KW1 paper · 2003
Department of Pathology and Laboratory Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio 45267, USA.
Papers in Europe PMC - 08Hui DY1 paper · 2003Papers in Europe PMC
- 09Luo W1 paper · 2024
Key Laboratory of Carbohyrate Chemistry and Biotechnology, Jiangnan University, Ministry of Education, No. 1800 Lihu Road, Wuxi 214122, China.
Papers in Europe PMC - 10Miller R1 paper · 2008
Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15213, USA.
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.
"Pancreatic triacylglycerol lipase deficiency" OR "Pancreatic triglyceride lipase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Pancreatic triacylglycerol lipase deficiency" OR "Pancreatic triglyceride lipase deficiency" OR "PNLIP"
Recall-expansion terms: PNLIP
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T12:54:16.319Z