ORPHA:220460
Attenuated familial adenomatous polyposis
Synonyms: AFAP · APC-related AFAP · APC-related attenuated FAP · APC-related attenuated familial polyposis coli · Attenuated FAP · Attenuated familial polyposis coli
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
A mild form of familial adenomatous polyposis characterized by the presence of fewer than 100 adenomatous colonic polyps, a more proximal colonic location, a delayed age of colorectal cancer onset and a more limited expression of the extracolonic features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Attenuated familial adenomatous polyposis | AFAP · APC-related AFAP · APC-related attenuated FAP · APC-related attenuated familial polyposis coli · Attenuated FAP · Attenuated familial polyposis coli |
| fr | Polypose adénomateuse familiale atténuée | PAF attenuée · PAF attenuée liée à APC · PAFA · PAFA liée à APC · Polypose rectocolique familiale atténuée · Polypose rectocolique familiale atténuée liée à APC |
| de | Attenuierte familiäre adenomatöse Polyposis | APC-assoziierte attenuierte familiäre Polyposis coli · Attenuierte FAP · AFAP · APC-abhängige attenuierte FAP · APC-assoziierte Polyposis |
| es | Poliposis adenomatosa familiar atenuada | PAF atenuada · PAF atenuada asociada a APC · PAFA · PAFA asociada a APC · Poliposis coli familiar atenuada · Poliposis coli familiar atenuada asociada a APC · Poliposis colónica familiar atenuada · Poliposis colónica familiar atenuada asociada a APC |
| it | Poliposi adenomatosa familiare attenuata | AFAP · FAP attenuata · Poliposi rettocolica familiare attenuata |
| nl | Geattenueerde familiale adenomateuze polyposis | AFAP · APC-gerelateerde AFAP · APC-gerelateerde geattenueerde FAP · APC-gerelateerde geattenueerde familiale polyposis coli · Geattenueerde FAP · Geattenueerde familiale polyposis coli |
| pt | Polipose adenomatosa familiar atenuada | FAP atenuada APC-relacionada · Polipose colon familiar atenuada · Polipose do cólon atenuada familiar APC-relacionada · AFAP · AFAP APC-relacionada · FAP atenuada |
| pl | Postać poronna rodzinnej polipowatości gruczolakowatej | AFAP · Poronna FAP · Postać poronna rodzinnej polipowatości jelita grubego |
| cs | Atenuovaná familiární adenomatózní polypóza | AFAP · Atenuovaná FAP · Atenuovaná familiární polyposis coli |
| uk | Послаблений сімейний аденоматозний поліпоз | AFAP · Послаблений сімейний поліпоз кишкової палички · Ослаблений ФАП |
| zh | 家族性腺瘤性息肉病轻型 | 轻型家族性结肠息肉病 |
| tr | Zayıflatılmış ailesel adenomatöz polipoz | AFAP · Zayıflatılmış FAP · Zayıflatılmış ailesel polipoz koli |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175100 | NTBT | validated | |
| ICD-10 | D12.6 | NTBT | attributed | validated |
| ICD-11 | 2B90.Y | NTBT | index | validated |
| MONDO | 0016362 | E | validated | |
| MeSH | C538265 | E | validated | |
| UMLS | C2674616 | E | validated | |
| GARD | 8532 | 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 (3):
- 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
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:247806OBSOLETE: APC-related attenuated familial adenomatous polyposis referred 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 | 17489848[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
23 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:0003003 | Colon cancer | |
| HP:0004783 | Duodenal polyposis | |
| HP:0030255 | Large intestinal polyposis | |
| HP:0004394 | Multiple gastric polyps | |
| HP:0006753 | Neoplasm of the stomach | |
| HP:0100896 | Rectal polyposis | |
| Occasional (29-5%) | ||
| HP:0040276 | Adenocarcinoma of the colon | |
| HP:0009592 | Astrocytoma | |
| HP:0010614 | Fibroma | |
| HP:0005562 | Multiple renal cysts | |
| HP:0012740 | Papilloma | |
| HP:0000854 | Thyroid adenoma | |
| HP:0000131 | Uterine leiomyoma | |
| Very rare (<4-1%) | ||
| HP:0008256 | Adrenocortical adenoma | |
| HP:0006744 | Adrenocortical carcinoma | |
| HP:0003002 | Breast carcinoma | |
| HP:0002672 | Gastrointestinal carcinoma | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0002895 | Papillary thyroid carcinoma | |
| HP:0030434 | Pilomatrixoma | |
| Excluded (0%) | ||
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27476653[PMID]_22976915[PMID]_17938238[PMID]_22525412[PMID]_19822006[PMID]_14902760[PMID]_8747580[PMID]_11156460[PMID]_18046442[PMID]_21209732[PMID]_15300576[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/220460
- This record as JSON: /data/d/220460.json