Details of Disease

General Information of Disease (ID: DISGMTLG)

Disease Name Attenuated familial adenomatous polyposis
Synonyms
mild form of FAP; hereditary flat adenoma syndrome; attenuated FAP; attenuated familial adenomatous polyposis; attenuated familial polyposis coli; HFAS; attenuated adenomatous polyposis coli; AFAP; AAPC
Definition
Attenuated familial adenomatous polyposis (AFAP) is 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 (CRC) onset and a more limited expression of the extracolonic features.
Disease Hierarchy
DIS99333: Classic or attenuated familial adenomatous polyposis
DISGMTLG: Attenuated familial adenomatous polyposis
Disease Identifiers
MONDO ID
MONDO_0016362
MESH ID
C538265
UMLS CUI
C2674616
MedGen ID
436213
Orphanet ID
220460
SNOMED CT ID
715866009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FAP TTGPQ0F moderate Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NTHL1 OTPQXPT1 Strong Biomarker [2]
AFAP1 OTR473H8 Definitive Genetic Variation [1]
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References

1 Mitochondrial variants in MT-CO2 and D-loop instability are involved in MUTYH-associated polyposis.J Mol Med (Berl). 2015 Nov;93(11):1271-81. doi: 10.1007/s00109-015-1312-0. Epub 2015 Jul 3.
2 The genetic basis of colonic adenomatous polyposis syndromes.Hered Cancer Clin Pract. 2017 Mar 16;15:5. doi: 10.1186/s13053-017-0065-x. eCollection 2017.