Hereditary mixed polyposis syndrome
Synonyms: HMPS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary mixed polyposis syndrome | HMPS |
| fr | Polypose mixte héréditaire | |
| de | Polyposis-Syndrom, gemischtes, hereditäres | = en |
| es | Síndrome de poliposis mixta hereditaria | = en |
| it | Sindrome ereditaria da poliposi mista | = en |
| nl | Erfelijk gemengde polyposis-syndroom | = en |
| pt | Síndrome com polipose mista, hereditário | |
| pl | Dziedziczny zespół polipowatości mieszanej | = en |
| cs | Hereditární polypózní syndrom se smíšenými polypy | = en |
| uk | Спадковий синдром змішаного поліпозу | = en |
| zh | 遗传性混合性息肉病综合征 | = en |
| tr | Kalıtsal karma polipoz sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601228 | E | validated | |
| OMIM | 610069 | BTNT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2E92.40 | NTBT | index | validated |
| MONDO | 0011023 | E | validated | |
| UMLS | C5192681 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPR1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1076 | ENSG00000107779 | 601299 | 10q23.2 | bone morphogenetic protein receptor type 1A | 16525031[PMID] |
| GREM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2001 | ENSG00000166923 | 603054 | 15q13.3 | gremlin 1, DAN family BMP antagonist | 22561515[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 16525031[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 16525031[PMID]_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
18 annotations · validated 2019-01-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001892 | Abnormal bleeding | |
| HP:0002573 | Hematochezia | |
| HP:0012183 | Hyperplastic colonic polyposis | |
| Frequent (79-30%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0003003 | Colon cancer | |
| HP:0200063 | Colorectal polyposis | |
| HP:0012198 | Juvenile colonic polyposis | |
| HP:0007378 | Neoplasm of the gastrointestinal tract | |
| HP:0100896 | Rectal polyposis | |
| HP:0005505 | Refractory anemia | |
| Occasional (29-5%) | ||
| HP:0040276 | Adenocarcinoma of the colon | |
| HP:0002576 | Intussusception | |
| HP:0100743 | Neoplasm of the rectum | |
| Very rare (<4-1%) | ||
| HP:0100245 | Desmoid tumors | |
| HP:0006771 | Duodenal adenocarcinoma | |
| HP:0012114 | Endometrial carcinoma | |
| HP:0012125 | Prostate cancer | |
| HP:0002890 | Thyroid carcinoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 28242209[PMID]_26600934[PMID]_27984123[PMID]_8644741[PMID]_10092300[PMID]_16525031[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157794
- This record as JSON: /data/d/157794.json