ORPHA:733
Familial adenomatous polyposis
Synonyms: Colorectal adenomatous polyposis · FAP · Familial polyposis coli
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare intestinal polyposis syndrome characterized by the development of up to hundreds to thousands of adenomas in the large bowel. It is a multi-system disorder with important extracolonic manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial adenomatous polyposis | Colorectal adenomatous polyposis · FAP · Familial polyposis coli |
| fr | Polypose adénomateuse familiale | FAP · PAF · Polypose adénomateuse colorectale · Polypose rectocolique familiale |
| de | Polyposis, adenomatöse familiäre | FAP · Polypen, adenomatöse kolorektale |
| es | Poliposis adenomatosa familiar | PAF · Poliposis adenomatosa coli · Poliposis adenomatosa colorrectal |
| it | Poliposi adenomatosa familiare | FAP · Poliposi adenomatosa colorettale · Poliposi familiare del colon |
| nl | Familiale adenomateuze polyposis | Colorectale adenomateuze polyposis · FAP · Familiale polyposis coli |
| pt | Polipose adenomatosa familiar | FAP · PAF · Polipose adenomatosa colorretal dominante · Polipose adenomatosa familiar autossómica dominante · Síndrome Gardner |
| pl | Rodzinna polipowatość gruczolakowata | FAP · Polipowatość gruczolakowata jelita grubego · Rodzinna polipowatość jelita |
| cs | Familiární adenomatózní polypóza | Kolorektální adenomatózní polypóza · FAP · Familiární střevní polypóza · Familiární polypóza střev |
| uk | Сімейний аденоматозний поліпоз | Аденоматозний поліпоз товстої кишки · Сімейний поліпоз coli · FAP |
| zh | 家族性腺瘤性息肉病 | 结直肠腺瘤性息肉病 |
| tr | Ailesel adenomatöz polipoz | FAP · Ailesel polipoz koli · Kolorektal adenomatöz polipoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175100 | BTNT | validated | |
| OMIM | 608456 | BTNT | validated | |
| OMIM | 616415 | BTNT | validated | |
| OMIM | 617100 | BTNT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | index | validated |
| MONDO | 0021055 | E | validated | |
| MeSH | D011125 | E | validated | |
| UMLS | C0032580 | E | validated | |
| GARD | 6408 | E | validated | |
| MedDRA | 10056981 | 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 (4):
- ORPHA:271835Genetic digestive tract tumor
rare genetic diseases - ORPHA:363314Genetic intestinal polyposis
rare genetic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:716393Rare disorder with non-progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79665Gardner syndrome moved to · inactive
- ORPHA:99818Turcot syndrome with polyposis moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APC | Disease-causing germline mutation(s) in | Assessed | HGNC:583 | ENSG00000134982 | 611731 | 5q22.2 | APC regulator of Wnt signaling pathway | 31070935[PMID] |
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Prevalence and incidence
12 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2011[OTHER] |
| Annual incidence | 1-5 / 10 000 | 19 / 100 000 | Denmark | Value and class | Validated | 12692062[PMID] |
| Point prevalence | 1-9 / 100 000 | 4.65 / 100 000 | Denmark | Value and class | Validated | 12692062[PMID] |
| Annual incidence | 1-9 / 100 000 | 8.6 / 100 000 | Sweden | Value and class | Validated | 10636071[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.2 / 100 000 | Sweden | Value and class | Validated | 10636071[PMID] |
| Annual incidence | 1-5 / 10 000 | 15.8 / 100 000 | Finland | Value and class | Validated | 1314763[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.63 / 100 000 | Finland | Value and class | Validated | 1314763[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.6 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID] |
| Point prevalence | 1-9 / 100 000 | 5.3 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.24 / 100 000 | Australia | Value and class | Validated | 2556632[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.8 / 100 000 | Australia | Value and class | Validated | 2556632[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
45 annotations · validated 2021-04-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005227 | Adenomatous colonic polyposis | |
| HP:0003003 | Colon cancer | |
| HP:0200063 | Colorectal polyposis | |
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | |
| HP:0100245 | Desmoid tumors | |
| HP:0007378 | Neoplasm of the gastrointestinal tract | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0002019 | Constipation | |
| HP:0002014 | Diarrhea | |
| HP:0004783 | Duodenal polyposis | |
| HP:0004394 | Multiple gastric polyps | |
| HP:0100246 | Osteoma | |
| HP:0025388 | Thyroid nodule | |
| Occasional (29-5%) | ||
| HP:0100717 | Abnormality of the cementum | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0008256 | Adrenocortical adenoma | |
| HP:0010615 | Angiofibromas | |
| HP:0006771 | Duodenal adenocarcinoma | |
| HP:0100631 | Neoplasm of the adrenal gland | |
| HP:0011068 | Odontoma | |
| HP:0002895 | Papillary thyroid carcinoma | |
| HP:0011069 | Supernumerary tooth | |
| HP:0000706 | Unerupted tooth | |
| Very rare (<4-1%) | ||
| HP:0040274 | Adenocarcinoma of the small intestine | |
| HP:0009592 | Astrocytoma | |
| HP:0005230 | Biliary tract obstruction | |
| HP:0030692 | Brain neoplasm | |
| HP:0030153 | Cholangiocarcinoma | |
| HP:0002888 | Ependymoma | |
| HP:0200040 | Epidermoid cyst | |
| HP:0010614 | Fibroma | |
| HP:0000853 | Goiter | |
| HP:0002884 | Hepatoblastoma | |
| HP:0000821 | Hypothyroidism | |
| HP:0012032 | Lipoma | |
| HP:0011355 | Localized skin lesion | |
| HP:0002885 | Medulloblastoma | |
| HP:0100575 | Neoplasm of the gallbladder | |
| HP:0006725 | Pancreatic adenocarcinoma | |
| HP:0001733 | Pancreatitis | |
| HP:0030434 | Pilomatrixoma | |
| HP:0002893 | Pituitary adenoma | |
| HP:0031459 | Soft tissue neoplasm | |
| HP:0012126 | Stomach cancer | |
| HP:0100646 | Thyroiditis | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301519[PMID]_31070935[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/733
- This record as JSON: /data/d/733.json