Peutz-Jeghers syndrome
Information
- Disease name
- Peutz-Jeghers syndrome
- Disease ID
- DOID:3852
- Description
- "An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13." [url:https\://pubmed.ncbi.nlm.nih.gov/10499464/, url:https\://pubmed.ncbi.nlm.nih.gov/10874301/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| STK11 | 19 | 1,205,778 | 1,228,431 | 40 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT00001452 | Completed | Defining the Genetic Basis for the Development of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the Carney Complex | December 14, 1995 | ||
| NCT00438906 | Completed | Cancer of the Pancreas Screening Study (CAPS 3) | December 2006 | December 2009 | |
| NCT00633607 | Completed | Hereditary Colorectal and Associated Tumor Registry Study | April 2012 | January 26, 2018 | |
| NCT06242457 | Completed | Poorly Differentiated Adenocarcinoma of the Jejunum in a Patient With Peutz-Jeghers Syndrome: A Case Report | July 15, 2023 | December 30, 2023 | |
| NCT06001476 | Not yet recruiting | Phase 4 | Cold Snare Polypectomy for Small Bowel Polyps in Patients With Peutz-Jeghers Syndrome | August 20, 2023 | February 1, 2025 |
| NCT05692596 | Recruiting | The Pancreas Interception Center (PIC) for Early Detection, Prevention, and Novel Therapeutics | October 6, 2022 | August 2025 | |
| NCT03050268 | Recruiting | Familial Investigations of Childhood Cancer Predisposition | April 6, 2017 | March 31, 2037 | |
| NCT06163365 | Recruiting | Inherited Cancer Early Diagnosis (ICED) Study | July 26, 2022 | July 26, 2025 | |
| NCT04095195 | Recruiting | Registry of Subjects at Risk of Pancreatic Cancer | August 20, 2019 | September 20, 2045 | |
| NCT00811590 | Terminated | Phase 2 | Pilot Study of mTOR Inhibitor Therapy in Peutz-Jeghers Syndrome | November 2008 | March 2011 |
| NCT03806075 | Unknown status | N/A | Study of Accurate Diagnosis and Treatment of Peutz-Jeghers Syndrome | March 1, 2018 | September 1, 2021 |
| NCT03781050 | Unknown status | Phase 4 | Efficacy of Rapamycin (Sirolimus) in the Treatment of Peutz-Jeghers Syndrome | September 16, 2018 | July 1, 2022 |
| NCT01178151 | Withdrawn | Phase 2 | Study of Everolimus in the Treatment of Advanced Malignancies in Patients With Peutz-Jeghers Syndrome | October 2010 | April 2015 |
- Exact Synonym (Disease Ontology)
- Colonic hamartomatous polyp
- Exact Synonym (Disease Ontology)
- gastric Peutz-Jeghers polyp
- Exact Synonym (Disease Ontology)
- Peutz Jeghers colon polyp
- Exact Synonym (Disease Ontology)
- Peutz Jeghers polyp
- Exact Synonym (Disease Ontology)
- Peutz-Jeghers polyp of small Intestine
- Exact Synonym (Disease Ontology)
- peutz-jeghers small bowel hamartoma
- Disase is a (Disease Ontology)
- DOID:5295
- Cross Reference ID (Disease Ontology)
- GARD:7378
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q85.89
- Cross Reference ID (Disease Ontology)
- MESH:D010580
- Cross Reference ID (Disease Ontology)
- MIM:175200
- Cross Reference ID (Disease Ontology)
- NCI:C3324
- Cross Reference ID (Disease Ontology)
- NCI:C4733
- Cross Reference ID (Disease Ontology)
- NCI:C7755
- Cross Reference ID (Disease Ontology)
- ORDO:2869
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:157029009
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:277161008
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:53633000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0031269
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265323
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0456487
- OrphaNumber from OrphaNet (Orphanet)
- 2869
- MedGen unique identifier (MedGen Concept name)
- 18404
- MedGen concept unique identifier (MedGen Concept name)
- C0031269
- MeSH unique ID (MeSH (Medical Subject Headings))
- D010580