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 ⁵⁶ ¹² ⁷³ ²⁹ ⁶

Fap3 ⁵⁶ ⁷³

Nthl1-Related Attenuated Familial Adenomatous Polyposis ⁵⁸

Nthl1-Related Attenuated Fap ⁵⁸

Nthl1-Related Afap ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

OMIM:

⁵⁶

Inheritance:
autosomal recessive

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

HPO:

³¹

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: ³³

Neoplasms

Benign neoplasms

Benign neoplasm of colon, rectum, anus and anal canal

Benign neoplasm: Colon, unspecified

Orphanet: ⁵⁸

Rare gastroenterological diseases

External Ids:

Disease Ontology ¹² DOID:0080411

OMIM ⁵⁶ 616415

OMIM Phenotypic Series ⁵⁶ PS175100

MeSH ⁴³ D011125

ICD10 via Orphanet ³³ D12.6

Orphanet ⁵⁸ ORPHA454840

MedGen ⁴¹ C4225157 CN231254

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Summaries for Familial Adenomatous Polyposis 3

OMIM : ⁵⁶ 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, is also known as fap3. An important gene associated with Familial Adenomatous Polyposis 3 is NTHL1 (Nth Like DNA Glycosylase 1). Affiliated tissues include colon, breast and skin, 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 : ⁷³ 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

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Symptoms & Phenotypes for Familial Adenomatous Polyposis 3

Human phenotypes related to Familial Adenomatous Polyposis 3:

⁵⁸ ³¹ (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	adenomatous colonic polyposis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005227
2	colon cancer ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003003
3	meningioma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002858
4	breast carcinoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003002
5	neoplasm of the rectum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0100743
6	endometrial carcinoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012114
7	bladder neoplasm ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009725
8	pancreatic adenocarcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006725
9	basal cell carcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002671
10	squamous cell carcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002860
11	ovarian cyst ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000138
12	non-hodgkin lymphoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0012539
13	duodenal adenocarcinoma ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006771
14	seborrheic keratosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0031287
15	neoplasm of the skin ⁵⁸ ³¹		Frequent (79-30%)	HP:0008069

Symptoms via clinical synopsis from OMIM:

⁵⁶

Neoplasia:
meningioma
bladder cancer
colorectal cancer
breast cancer
endometrial cancer
more

Abdomen Gastrointestinal:
colorectal adenomas, multiple

Clinical features from OMIM:

616415

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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:

⁴⁰

Colon, Breast, Skin, Pancreas

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Publications for Familial Adenomatous Polyposis 3

Articles related to Familial Adenomatous Polyposis 3:

(show all 13)

#	Title	Authors	PMID	Year
1	Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. ⁵⁶ ⁶	Rivera B...Foulkes WD	26559593	2015
2	A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. ⁶ ⁵⁶	Weren RD...Hoogerbrugge N	25938944	2015
3	NTHL1 Tumor Syndrome ⁶	Kuiper RP...Hoogerbrugge N	32239880	2020
4	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. ⁶	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
5	Guidelines for the clinical management of familial adenomatous polyposis (FAP). ⁶	Vasen HF...Wijnen J	18194984	2008
6	Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. ⁶¹	Ansari FA...Ahmad I	31372943	2019
7	[Therapeutic effect of a new hybrid technique which combined laparoscopic method and abdominal repair for parastomal hernia repair]. ⁶¹	Luo W...Duan X	28655084	2017
8	Positive selection sites in tertiary structure of Leguminosae chalcone isomerase 1. ⁶¹	Wang RK...Wang CE	25867341	2015
9	Safety, feasibility, and short-term outcomes of laparoscopic ileal-pouch-anal anastomosis: a single institutional case-matched experience. ⁶¹	Larson DW...Pemberton J	16633002	2006
10	Clinical relevance of small-bowel findings detected by wireless capsule endoscopy. ⁶¹	Sturniolo GC...D'Inca R	16036534	2005
11	Pancreas-sparing duodenectomy for duodenal polyposis. ⁶¹	Sarmiento JM...Farnell MB	11982469	2002
12	Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. ⁶¹	Saito T...Noda M	12061627	2002
13	Histochemical study of apoptosis and cell proliferation in hereditary intestinal diseases. ⁶¹	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	1368.2	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	25938944 26559593 32239880

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Variations for Familial Adenomatous Polyposis 3

ClinVar genetic disease variations for Familial Adenomatous Polyposis 3:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	NTHL1	NM_002528.7(NTHL1):c.685+1G>A	SNV	Pathogenic	218092	rs372946560	16:2093567-2093567	16:2043566-2043566
2	NTHL1	NM_002528.7(NTHL1):c.115+1G>A	SNV	Likely pathogenic	656884		16:2097709-2097709	16:2047708-2047708
3	NTHL1	NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)	SNV	Conflicting interpretations of pathogenicity	499145	rs148104494	16:2096209-2096209	16:2046208-2046208
4	NTHL1	NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)	SNV	Conflicting interpretations of pathogenicity	587357	rs1805378	16:2094653-2094653	16:2044652-2044652
5	NTHL1	NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	SNV	Conflicting interpretations of pathogenicity	192319	rs150766139	16:2096239-2096239	16:2046238-2046238
6	NTHL1	NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser)	SNV	Uncertain significance	587358	rs139309757	16:2090008-2090008	16:2040007-2040007
7	NTHL1	NM_002528.7(NTHL1):c.116-10C>G	SNV	Benign/Likely benign	776963		16:2096377-2096377	16:2046376-2046376

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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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⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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:

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:

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