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 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

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

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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁵

Neoplasms

Benign neoplasms

Benign neoplasm of colon, rectum, anus and anal canal

Benign neoplasm: Colon, unspecified

Orphanet: ⁶⁰

Rare gastroenterological diseases

External Ids:

Disease Ontology ¹² DOID:0080411

OMIM ⁵⁸ 616415

MeSH ⁴⁵ D011125

ICD10 via Orphanet ³⁵ D12.6

Orphanet ⁶⁰ ORPHA454840

MedGen ⁴³ C4225157 CN231254

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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.

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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	9.6	NTHL1 TSC2
2	tuberous sclerosis 2	9.5	NTHL1 TSC2

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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

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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 ³⁰	NTHL1

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Anatomical Context for Familial Adenomatous Polyposis 3

MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:

⁴²

Colon, Skin, Breast, Eye

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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 )	Weren RD...Hoogerbrugge N	2015
2	Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. ( 26559593 )	Rivera B...Foulkes WD	2015

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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	1377.91	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	26559593 25938944
2	TSC2	TSC Complex Subunit 2	Protein Coding	17.8	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	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

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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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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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