FAP3
MCID: FML299
MIFTS: 28

Familial Adenomatous Polyposis 3 (FAP3)

Categories: 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 58 12 76 30 6
Fap3 58 76
Nthl1-Related Attenuated Familial Adenomatous Polyposis 60
Nthl1-Related Attenuated Fap 60
Nthl1-Related Afap 60

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
familial adenomatous polyposis 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Familial Adenomatous Polyposis 3

OMIM : 58 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 and tuberous sclerosis 2. 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 : 76 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 9.6 NTHL1 TSC2
2 tuberous sclerosis 2 9.5 NTHL1 TSC2

Symptoms & Phenotypes for Familial Adenomatous Polyposis 3

Human phenotypes related to Familial Adenomatous Polyposis 3:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005227
2 colon cancer 60 33 frequent (33%) Frequent (79-30%) HP:0003003
3 breast carcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0003002
4 meningioma 60 33 frequent (33%) Frequent (79-30%) HP:0002858
5 neoplasm of the rectum 60 33 frequent (33%) Frequent (79-30%) HP:0100743
6 endometrial carcinoma 60 33 frequent (33%) Frequent (79-30%) HP:0012114
7 bladder neoplasm 60 33 frequent (33%) Frequent (79-30%) HP:0009725
8 pancreatic adenocarcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006725
9 squamous cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002860
10 ovarian cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0000138
11 duodenal adenocarcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0006771
12 basal cell carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002671
13 non-hodgkin lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0012539
14 seborrheic keratosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0031287
15 neoplasm of the skin 60 33 Frequent (79-30%) HP:0008069

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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 30 NTHL1

Anatomical Context for Familial Adenomatous Polyposis 3

MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:

42
Colon, Skin, Breast, Eye

Publications for Familial Adenomatous Polyposis 3

Articles related to Familial Adenomatous Polyposis 3:

# Title Authors Year
1
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. ( 25938944 )
2015
2
Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. ( 26559593 )
2015

Variations for Familial Adenomatous Polyposis 3

ClinVar genetic disease variations for Familial Adenomatous Polyposis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NTHL1 NM_002528.5(NTHL1): c.268C> T (p.Gln90Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs150766139 GRCh38 Chromosome 16, 2046238: 2046238
2 NTHL1 NM_002528.5(NTHL1): c.268C> T (p.Gln90Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs150766139 GRCh37 Chromosome 16, 2096239: 2096239
3 NTHL1 NM_002528.7(NTHL1): c.685+1G> A single nucleotide variant Pathogenic rs372946560 GRCh38 Chromosome 16, 2043566: 2043566
4 NTHL1 NM_002528.7(NTHL1): c.685+1G> A single nucleotide variant Pathogenic rs372946560 GRCh37 Chromosome 16, 2093567: 2093567
5 NTHL1 NM_002528.7(NTHL1): c.274C> T (p.Arg92Cys) single nucleotide variant Uncertain significance rs148104494 GRCh37 Chromosome 16, 2096209: 2096209
6 NTHL1 NM_002528.7(NTHL1): c.274C> T (p.Arg92Cys) single nucleotide variant Uncertain significance rs148104494 GRCh38 Chromosome 16, 2046208: 2046208
7 NTHL1 NM_002528.6(NTHL1): c.856G> A (p.Gly286Ser) single nucleotide variant Uncertain significance rs139309757 GRCh38 Chromosome 16, 2040007: 2040007
8 NTHL1 NM_002528.6(NTHL1): c.856G> A (p.Gly286Ser) single nucleotide variant Uncertain significance rs139309757 GRCh37 Chromosome 16, 2090008: 2090008
9 NTHL1 NM_002528.7(NTHL1): c.503T> C (p.Ile168Thr) single nucleotide variant Uncertain significance rs1805378 GRCh38 Chromosome 16, 2044652: 2044652
10 NTHL1 NM_002528.7(NTHL1): c.503T> C (p.Ile168Thr) single nucleotide variant Uncertain significance rs1805378 GRCh37 Chromosome 16, 2094653: 2094653

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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