ORPHA:2869
Peutz-Jeghers syndrome
Synonyms: Hamartomatous intestinal polyposis · PJS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A genetic intestinal polyposis syndrome characterized by development of characteristic hamartomatous polyps throughout the gastrointestinal (GI) tract, and by mucocutaneous pigmentation. This disorder carries a considerably increased risk of GI and extra-GI malignancies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peutz-Jeghers syndrome | Hamartomatous intestinal polyposis · PJS |
| fr | Syndrome de Peutz-Jeghers | PJS · Polypose hamartomateuse intestinale |
| de | Peutz-Jeghers-Syndrom | PJS · Polyposis, hamartöse intestinale |
| es | Síndrome de Peutz-Jeghers | PJS · Poliposis intestinal hamartomatosa |
| it | Sindrome di Peutz-Jeghers | PJS · Poliposi amartomatosa intestinale |
| nl | Syndroom van Peutz-Jeghers | Hamartomateuze intestinale polyposis · PJS |
| pt | Síndrome Peutz-Jeghers | Polipose intestinal hamartomatosa · SPJ |
| pl | Zespół Peutza i Jeghersa | PJS · Polipowatość hamartomatyczna jelit · Zespół polipy i plamki |
| cs | Peutzův-Jeghersův syndrom | Hamartomatózní intestinální polypóza · PJS · Syndrom s polypy a skvrnami · Lentiginopolyposis digestiva · Peutz-Jeghersův syndrom |
| uk | Синдром Пейтца-Єгерса | Гамартомний поліпоз кишечника · PJS |
| zh | Peutz-Jeghers综合征 | 错构瘤样肠息肉病 |
| tr | Peutz-Jeghers sendromu | PJS · Polipler ve lekeler sendromu · Hamartomatöz bağırsak polipozu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175200 | E | validated | |
| ICD-10 | Q85.8 | NTBT | inclusion | validated |
| ICD-11 | LD2D.0 | E | specific | validated |
| MONDO | 0008280 | E | validated | |
| MeSH | D010580 | E | validated | |
| UMLS | C0031269 | E | validated | |
| GARD | 7378 | E | validated | |
| MedDRA | 10034764 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (8):
- ORPHA:271835Genetic digestive tract tumor
rare genetic diseases - ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:363314Genetic intestinal polyposis
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:589746Inherited gynecological cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STK11 | Disease-causing germline mutation(s) in | Assessed | HGNC:11389 | ENSG00000118046 | 602216 | 19p13.3 | serine/threonine kinase 11 | 9837816[PMID]_20581245[PMID]_20301443[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | Worldwide | Value and class | Not yet validated | 20301443[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 / 100 000 | Uruguay | Value and class | Validated | 24260271[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100669 | Abnormal pigmentation of the oral mucosa | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0002672 | Gastrointestinal carcinoma | |
| HP:0012733 | Macule | |
| HP:0001003 | Multiple lentigines | |
| Frequent (79-30%) | ||
| HP:0002239 | Gastrointestinal hemorrhage | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0005264 | Abnormality of the gallbladder | |
| HP:0000366 | Abnormality of the nose | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0001903 | Anemia | |
| HP:0100574 | Biliary tract neoplasm | |
| HP:0003002 | Breast carcinoma | |
| HP:0030079 | Cervix cancer | |
| HP:0008675 | Enlarged polycystic ovaries | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0005214 | Intestinal obstruction | |
| HP:0100644 | Melanonychia | |
| HP:0005562 | Multiple renal cysts | |
| HP:0100582 | Nasal polyposis | |
| HP:0002664 | Neoplasm | |
| HP:0100273 | Neoplasm of the colon | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0012720 | Neoplasm of the nose | |
| HP:0100743 | Neoplasm of the rectum | |
| HP:0100833 | Neoplasm of the small intestine | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0002035 | Rectal prolapse | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0012126 | Stomach cancer | |
| HP:0002013 | Vomiting | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2869
- This record as JSON: /data/d/2869.json