FAP3
MCID: FML299
MIFTS: 30

Familial Adenomatous Polyposis 3 (FAP3)

Categories: Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Adenomatous Polyposis 3

MalaCards integrated aliases for Familial Adenomatous Polyposis 3:

Name: Familial Adenomatous Polyposis 3 57 12 74 29 6
Fap3 57 74
Nthl1-Related Attenuated Familial Adenomatous Polyposis 59
Nthl1-Related Attenuated Fap 59
Nthl1-Related Afap 59

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
increased susceptibility to multiple carcinomas
carcinomas tend to develop in mid or late adulthood


HPO:

32
familial adenomatous polyposis 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080411
MeSH 44 D011125
ICD10 via Orphanet 34 D12.6
Orphanet 59 ORPHA454840

Summaries for Familial Adenomatous Polyposis 3

OMIM : 57 Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). (616415)

MalaCards based summary : Familial Adenomatous Polyposis 3, also known as fap3, is related to tuberous sclerosis 2 and tuberous sclerosis. An important gene associated with Familial Adenomatous Polyposis 3 is NTHL1 (Nth Like DNA Glycosylase 1). Affiliated tissues include colon, skin and breast, and related phenotypes are adenomatous colonic polyposis and colon cancer

Disease Ontology : 12 A familial adenomatous polyposis that has material basis in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : 74 Familial adenomatous polyposis 3: A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma.

Related Diseases for Familial Adenomatous Polyposis 3

Diseases in the Familial Adenomatous Polyposis family:

Familial Adenomatous Polyposis 1 Familial Adenomatous Polyposis 2
Familial Adenomatous Polyposis 3 Familial Adenomatous Polyposis 4

Diseases related to Familial Adenomatous Polyposis 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 tuberous sclerosis 2 9.4 TSC2 NTHL1
2 tuberous sclerosis 9.2 TSC2 NTHL1

Symptoms & Phenotypes for Familial Adenomatous Polyposis 3

Human phenotypes related to Familial Adenomatous Polyposis 3:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005227
2 colon cancer 59 32 frequent (33%) Frequent (79-30%) HP:0003003
3 breast carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0003002
4 meningioma 59 32 frequent (33%) Frequent (79-30%) HP:0002858
5 neoplasm of the rectum 59 32 frequent (33%) Frequent (79-30%) HP:0100743
6 endometrial carcinoma 59 32 frequent (33%) Frequent (79-30%) HP:0012114
7 bladder neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0009725
8 pancreatic adenocarcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006725
9 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
10 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
11 ovarian cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0000138
12 duodenal adenocarcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006771
13 non-hodgkin lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012539
14 seborrheic keratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0031287
15 neoplasm of the skin 59 32 Frequent (79-30%) HP:0008069

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
meningioma
bladder cancer
colorectal cancer
breast cancer
endometrial cancer
more
Abdomen Gastrointestinal:
colorectal adenomas, multiple

Clinical features from OMIM:

616415

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 NTHL1 TSC2

Drugs & Therapeutics for Familial Adenomatous Polyposis 3

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 3

Genetic Tests for Familial Adenomatous Polyposis 3

Genetic tests related to Familial Adenomatous Polyposis 3:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 3 29 NTHL1

Anatomical Context for Familial Adenomatous Polyposis 3

MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:

41
Colon, Skin, Breast, Pancreas

Publications for Familial Adenomatous Polyposis 3

Articles related to Familial Adenomatous Polyposis 3:

(show all 12)
# Title Authors PMID Year
1
Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. 8 71
26559593 2015
2
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. 8 71
25938944 2015
3
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 71
25394175 2015
4
Guidelines for the clinical management of familial adenomatous polyposis (FAP). 71
18194984 2008
5
Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. 38
31372943 2019
6
[Therapeutic effect of a new hybrid technique which combined laparoscopic method and abdominal repair for parastomal hernia repair]. 38
28655084 2017
7
Positive selection sites in tertiary structure of Leguminosae chalcone isomerase 1. 38
25867341 2015
8
Safety, feasibility, and short-term outcomes of laparoscopic ileal-pouch-anal anastomosis: a single institutional case-matched experience. 38
16633002 2006
9
Clinical relevance of small-bowel findings detected by wireless capsule endoscopy. 38
16036534 2005
10
Pancreas-sparing duodenectomy for duodenal polyposis. 38
11982469 2002
11
Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. 38
12061627 2002
12
Histochemical study of apoptosis and cell proliferation in hereditary intestinal diseases. 38
11186203 1998

Variations for Familial Adenomatous Polyposis 3

ClinVar genetic disease variations for Familial Adenomatous Polyposis 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NTHL1 NM_002528.7(NTHL1): c.685+1G> A single nucleotide variant Pathogenic rs372946560 16:2093567-2093567 16:2043566-2043566
2 NTHL1 NM_002528.7(NTHL1): c.244C> T (p.Gln82Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs150766139 16:2096239-2096239 16:2046238-2046238
3 NTHL1 NM_002528.7(NTHL1): c.274C> T (p.Arg92Cys) single nucleotide variant Uncertain significance rs148104494 16:2096209-2096209 16:2046208-2046208
4 NTHL1 NM_002528.7(NTHL1): c.832G> A (p.Gly278Ser) single nucleotide variant Uncertain significance rs139309757 16:2090008-2090008 16:2040007-2040007
5 NTHL1 NM_002528.7(NTHL1): c.503T> C (p.Ile168Thr) single nucleotide variant Uncertain significance rs1805378 16:2094653-2094653 16:2044652-2044652

Expression for Familial Adenomatous Polyposis 3

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 3.

Pathways for Familial Adenomatous Polyposis 3

GO Terms for Familial Adenomatous Polyposis 3

Sources for Familial Adenomatous Polyposis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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