Serrated polyposis syndrome
Synonyms: Hyperplastic polyposis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial, Unknown
- Age of onset
- Adult, Elderly
- Status
- active
A rare, genetic intestinal disease characterized by the presence of multiple (usually large) hyperplastic/serrated colorectal polyps, usually with a pancolonic distribution. Histology reveals hyperplastic polyps, sessile serrated adenomas (most common), traditional serrated adenomas or mixed polyps. It is associated with an increased personal and familial (first-degree relatives) risk of colorectal cancer.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Serrated polyposis syndrome | Hyperplastic polyposis syndrome |
| fr | Syndrome de polypose dentelée | Polypose hyperplasique |
| de | Serratiertes Polyposis-Syndrom | Polyposis-Syndrom, hyperplastisches |
| es | Síndrome de poliposis serrada | Síndrome de poliposis hiperplásica |
| it | Sindrome da poliposi iperplastica | Poliposi serrata |
| nl | Gekartelde polyposis-syndroom | Zaagtand-polyposis · Hyperplastische polyposis-syndroom |
| pt | Síndrome com polipose hiperplástica | |
| pl | Zespół polipowatości hiperplastycznej | Polipowatość ząbkowana |
| cs | Polypózní syndrom s hyperplastickými polypy | Serátní polypóza |
| uk | Синдром зубчастого поліпозу | Синдром гіперпластичного поліпозу |
| zh | 增生性息肉综合征 | 锯齿状息肉病 |
| tr | Hiperplastik polipoz sendromu | Tırtıklı polipoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617108 | E | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2E92.40 | NTBT | index | validated |
| MONDO | 0015524 | E | validated | |
| UMLS | C4296896 | E | validated | |
| MedDRA | 10085922 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:363314Genetic intestinal polyposis
rare genetic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNF43 | Disease-causing germline mutation(s) in | Assessed | HGNC:18505 | ENSG00000108375 | 612482 | 17q22 | ring finger protein 43 | 27081527[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet validated | 22851664[PMID]_21636642[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
14 annotations · validated 2019-01-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200063 | Colorectal polyposis | |
| Frequent (79-30%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0100808 | Gastric diverticulum | |
| Occasional (29-5%) | ||
| HP:0100834 | Neoplasm of the large intestine | |
| Very rare (<4-1%) | ||
| HP:0100574 | Biliary tract neoplasm | |
| HP:0002862 | Bladder carcinoma | |
| HP:0003002 | Breast carcinoma | |
| HP:0100728 | Germ cell neoplasia | |
| HP:0012189 | Hodgkin lymphoma | |
| HP:0002861 | Melanoma | |
| HP:0100615 | Ovarian neoplasm | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0012125 | Prostate cancer | |
| HP:0100008 | Schwannoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24512911[PMID]_27081527[PMID]_1645228[PMID]_7463029[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157798
- This record as JSON: /data/d/157798.json