Familial adenomatous polyposis 1

Preferred Label : Familial adenomatous polyposis 1;

Symbol : FAP1;

CISMeF acronym : AAPC; AFAP; APC; BTPS2; FAP1; FPC; GS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adenomatous polyposis of the colon; Familial polyposis of the colon; Polyposis, adenomatous intestinal; APC; FPC;

Included titles and symbols : Gardner syndrome; Brain tumor-polyposis syndrome 2; Familial adenomatous polyposis, attenuated; Adenomatous polyposis coli, attenuated; GS; BTPS2; AFAP; AAPC; Adenoma, periampullary, somatic;

Description : Familial adenomatous polyposis is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991). Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC. See also FAP2 (608456), a similar disorder showing autosomal recessive inheritance and caused by mutation in the MUTYH gene (604933) on chromosome 1p34.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the adenomatous polyposis coli gene (APC, 611731.0001);

Neoplasia : Adrenal carcinoma; Thyroid papillary carcinoma; Periampullary carcinoma; Fibrosarcoma; Colon carcinoma; Gastric adenocarcinoma; Medulloblastoma; Hepatoblastoma; Small intestine carcinoid; Desmoid tumor; Astrocytoma;

Prefixed ID : #175100;

Details

Origin ID

175100;

UMLS CUI

C0032580;

Automatic exact mappings (from CISMeF team)
- APC [ICHI extension code]
- APC Gene [NCIt concept]
- APC protocol [MeSH Supplementary Concept]
- APC regulator of WNT signaling pathway [ORDO Gene]
- APC wt Allele [NCIt concept]
- Absolute Phagocyte Count [NCIt concept]
- Adenomatous colonic polyposis [HPO term]
- Adenomatous polyp of the colon [ICD-11 More detail]
- Antigen Presenting Cell [NCIt concept]
- Argon Beam Coagulator Ablation [NCIt concept]
- Attenuated Familial Adenomatous Polyposis [NCIt concept]
- Attenuated familial adenomatous polyposis [ORDO Disease]
- Attenuated familial adenomatous polyposis [ICD-11 More detail]
- Attenuated familial adenomatous polyposis [MeSH concept]
- Attenuated familial adenomatous polyposis (disorder) [SNOMED CT concept]
- Gaoshan Chinese [NCIt concept]
- Gauss [NCIt concept]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- PKHD1 wt Allele [NCIt concept]
- PROC wt Allele [NCIt concept]
- PTPN13 wt Allele [NCIt concept]
- Turcot syndrome with polyposis [ORDO Disease]
- adenomatous polyposis coli, attenuated [MeSH Supplementary Concept]
- adenomatous polyposis coli, attenuated [MeSH concept]
- anaphase-promoting complex [GO term]
- antigen-presenting cells [MeSH Descriptor]
- aspirin, caffeine, phenacetin drug combination [MeSH Supplementary Concept]
- attenuated familial adenomatous polyposis [MeSH Supplementary Concept]
- brain Tumor-Polyposis syndrome 2 [MeSH concept]
- drug effects [MeSH Qualifier]
- familial adenomatous polyposis 1 [DO Concept]
- genes, APC [MeSH concept]
Broader ORDO disease(s)
- Familial adenomatous polyposis [ORDO Disease]
Currated CISMeF NLP mapping
- Adenomatous polyposis coli [ICD-9 code]
- Adenomatous polyposis coli [ICD-O code]
- Familial Adenomatous Polyposis [NCIt concept]
- Familial adenomatous polyposis [TUV Concept]
- Familial adenomatous polyposis [ORDO Disease]
- Familial multiple polyposis syndrome (disorder) [SNOMED CT concept]
- Familial polyposis [MedDRA LLT]
- Gardner Syndrome [NCIt concept]
- Gardner syndrome [ORDO Disease]
- Gardner syndrome [PASCAL descriptor]
- Gardner syndrome [ICD-11 Subcategory]
- Gardner syndrome (disorder) [SNOMED CT concept]
- Gardner's syndrome [MedDRA LLT]
- adenomatous polyposis coli [Disease (Nov.)]
- adenomatous polyposis coli [SNOMED Notion]
- adenomatous polyposis coli [MeSH Descriptor]
- adenomatous polyposis coli [MeSH concept]
- familial adenomatous polyposis [DO Concept]
- gardner syndrome [SNOMED Notion]
- gardner syndrome [MeSH Descriptor]
- gardner syndrome [MeSH concept]
DO Cross reference
- familial adenomatous polyposis 1 [DO Concept]
False automatic mappings
- APC [ICD-11 Extension code]
- Alkylphosphocholine Compound [NCIt concept]
- Atrial Premature Complex by ECG Finding [NCIt concept]
- South Georgia and the South Sandwich Islands [NCIt concept]
Genes related to phenotype
- Apc regulator of wnt signaling pathway [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Adenomatous colonic polyposis [HPO term]
- Adrenocortical adenoma [HPO term]
- Adrenocortical carcinoma [HPO term]
- Astrocytoma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Carcinoma [HPO term]
- Carious teeth [HPO term]
- Colon cancer [HPO term]
- Congenital hypertrophy of retinal pigment epithelium [HPO term]
- Desmoid tumors [HPO term]
- Duodenal adenocarcinoma [HPO term]
- Duodenal polyposis [HPO term]
- Epidermoid cyst [HPO term]
- Eruption failure [HPO term]
- Fibroadenoma of the breast [HPO term]
- Fibroma [HPO term]
- Hepatoblastoma [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Keloids [HPO term]
- Medulloblastoma [HPO term]
- Multiple gastric polyps [HPO term]
- Multiple lipomas [HPO term]
- Odontoma [HPO term]
- Osteoma [HPO term]
- Papillary thyroid carcinoma [HPO term]
- Small intestine carcinoid [HPO term]
- Supernumerary tooth [HPO term]
Narrower ORDO disease(s)
- Gardner syndrome [ORDO Disease]
ORDO concept(s)
- APC-related attenuated familial adenomatous polyposis [ORDO Disease]
- Attenuated familial adenomatous polyposis [ORDO Disease]
- Familial adenomatous polyposis [ORDO Disease]
- Gardner syndrome [ORDO Disease]
- Turcot syndrome with polyposis [ORDO Disease]
See also inter- (CISMeF)
- Adenomatous Polyposis Coli Protein [NCIt concept]
- genes, apc [MeSH Descriptor]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Adenomatous polyposis coli [ICD-9 code]
- Adenomatous polyposis coli [MedDRA Preferred Term]
- Adenomatous polyposis coli [ICD-O code]
- Adenomatous polyposis coli (morphologic abnormality) [SNOMED CT concept]
- Familial Adenomatous Polyposis [NCIt concept]
- Familial adenomatous polyposis [MedDRA LLT]
- Familial adenomatous polyposis [ORDO Disease]
- Familial adenomatous polyposis [TUV Concept]
- Familial multiple polyposis syndrome (disorder) [SNOMED CT concept]
- Familial polyposis [MedDRA LLT]
- MYH-associated polyposis (disorder) [SNOMED CT concept]
- Polyposis coli [MedDRA LLT]
- adenomatous polyposis coli [MeSH Descriptor]
- adenomatous polyposis coli [MeSH concept]
- adenomatous polyposis coli [SNOMED Notion]
- adenomatous polyposis coli [Disease (Nov.)]
- familial adenomatous polyposis [DO Concept]
- familial multiple polyposis syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- APC-related attenuated familial adenomatous polyposis [ORDO Disease]
- Familial adenomatous polyposis due to 5q22.2 microdeletion [ORDO Disease]
- Gardner syndrome [Disease (Nov.)]
- MYH-associated polyposis (disorder) [SNOMED CT concept]
Validated automatic mappings to NTBT
- Polyposis coli [MedDRA LLT]
- polyposis, adenomatous intestinal [MeSH concept]

Keyword's position in hierarchy(ies) :

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