Familial Adenomatous Polyposis 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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

nthl1-related attenuated familial adenomatous polyposis
Inheritance: Autosomal recessive;

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Fetal diseases
Anatomical: Gastrointestinal diseases Neuronal diseases Eye diseases Skin diseases Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Neoplasms

Benign neoplasms

Benign neoplasm of colon, rectum, anus and anal canal

Benign neoplasm: Colon, unspecified

Orphanet: ⁵⁹

Rare gastroenterological diseases

External Ids:

Disease Ontology ¹² DOID:0080411

OMIM ⁵⁷ 616415 PS175100

MeSH ⁴⁴ D011125

ICD10 via Orphanet ³⁴ D12.6

Orphanet ⁵⁹ ORPHA454840

MedGen ⁴² C4225157 CN231254

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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.

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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

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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

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Drugs & Therapeutics for Familial Adenomatous Polyposis 3

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

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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

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Anatomical Context for Familial Adenomatous Polyposis 3

MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:

⁴¹

Colon, Skin, Breast, Pancreas

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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	Rivera B...Foulkes WD	26559593	2015
2	A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. ⁸ ⁷¹	Weren RD...Hoogerbrugge N	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	Hampel H...Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee	25394175	2015
4	Guidelines for the clinical management of familial adenomatous polyposis (FAP). ⁷¹	Vasen HF...Wijnen J	18194984	2008
5	Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. ³⁸	Ansari FA...Ahmad I	31372943	2019
6	[Therapeutic effect of a new hybrid technique which combined laparoscopic method and abdominal repair for parastomal hernia repair]. ³⁸	Luo W...Duan X	28655084	2017
7	Positive selection sites in tertiary structure of Leguminosae chalcone isomerase 1. ³⁸	Wang RK...Wang CE	25867341	2015
8	Safety, feasibility, and short-term outcomes of laparoscopic ileal-pouch-anal anastomosis: a single institutional case-matched experience. ³⁸	Larson DW...Pemberton J	16633002	2006
9	Clinical relevance of small-bowel findings detected by wireless capsule endoscopy. ³⁸	Sturniolo GC...D'Inca R	16036534	2005
10	Pancreas-sparing duodenectomy for duodenal polyposis. ³⁸	Sarmiento JM...Farnell MB	11982469	2002
11	Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. ³⁸	Saito T...Noda M	12061627	2002
12	Histochemical study of apoptosis and cell proliferation in hereditary intestinal diseases. ³⁸	Zhang Y...Sugihara K	11186203	1998

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Genes for Familial Adenomatous Polyposis 3

Genes related to Familial Adenomatous Polyposis 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NTHL1	Nth Like DNA Glycosylase 1	Protein Coding	1378.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25938944 26559593
2	TSC2	TSC Complex Subunit 2	Protein Coding	18.12	GeneCards inferred via : Variants (show sections)

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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

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Expression for Familial Adenomatous Polyposis 3

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

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Pathways for Familial Adenomatous Polyposis 3

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GO Terms for Familial Adenomatous Polyposis 3

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⁷⁵ Wikipedia

Familial Adenomatous Polyposis 3 (FAP3)

Aliases & Classifications for Familial Adenomatous Polyposis 3

MalaCards integrated aliases for Familial Adenomatous Polyposis 3:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Familial Adenomatous Polyposis 3

Related Diseases for Familial Adenomatous Polyposis 3

Diseases in the Familial Adenomatous Polyposis family:

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

Symptoms & Phenotypes for Familial Adenomatous Polyposis 3

Human phenotypes related to Familial Adenomatous Polyposis 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 3:

Drugs & Therapeutics for Familial Adenomatous Polyposis 3

Genetic Tests for Familial Adenomatous Polyposis 3

Genetic tests related to Familial Adenomatous Polyposis 3:

Anatomical Context for Familial Adenomatous Polyposis 3

MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:

Publications for Familial Adenomatous Polyposis 3

Articles related to Familial Adenomatous Polyposis 3:

Genes for Familial Adenomatous Polyposis 3

Genes related to Familial Adenomatous Polyposis 3 (1 elite genes):

Variations for Familial Adenomatous Polyposis 3

ClinVar genetic disease variations for Familial Adenomatous Polyposis 3:

Expression for Familial Adenomatous Polyposis 3

Pathways for Familial Adenomatous Polyposis 3

GO Terms for Familial Adenomatous Polyposis 3

Sources for Familial Adenomatous Polyposis 3