Familial Adenomatous Polyposis 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Familial Adenomatous Polyposis 4

MalaCards integrated aliases for Familial Adenomatous Polyposis 4:

Name: Familial Adenomatous Polyposis 4 ⁵⁷ ¹² ⁷³ ²⁹ ⁶

Fap4 ⁵⁷ ⁷³

Msh3-Related Attenuated Familial Adenomatous Polyposis ⁵⁸

Msh3-Related Attenuated Familial Polyposis Coli ⁵⁸

Msh3-Related Attenuated Fap ⁵⁸

Msh3-Related Afap ⁵⁸

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated august 2016)
increased susceptibility to multiple carcinomas
colorectal adenomas develop in mid adulthood (30s)

HPO:

³¹

familial adenomatous polyposis 4:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁸

Rare gastroenterological diseases

External Ids:

Disease Ontology ¹² DOID:0080412

OMIM® ⁵⁷ 617100

OMIM Phenotypic Series ⁵⁷ PS175100

MeSH ⁴⁴ D018256

Orphanet ⁵⁸ ORPHA480536

MedGen ⁴¹ C4310719 CN238101

SNOMED-CT via HPO ⁶⁸ 146801000119103 23730008 255033000 more

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Summaries for Familial Adenomatous Polyposis 4

OMIM® : ⁵⁷ Familial adenomatous polyposis-4 is an autosomal recessive tumor predisposition syndrome characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer. Proliferative lesions in other tissues may also occur (summary by Adam et al., 2016). For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). (617100) (Updated 05-Mar-2021)

MalaCards based summary : Familial Adenomatous Polyposis 4, also known as fap4, is related to cavernous sinus meningioma and megaloblastic anemia due to dihydrofolate reductase deficiency. An important gene associated with Familial Adenomatous Polyposis 4 is MSH3 (MutS Homolog 3). Affiliated tissues include thyroid, colon and breast, and related phenotypes are adenomatous colonic polyposis and colorectal polyposis

Disease Ontology : ¹² A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has material basis in compound heterozygous mutation in the MSH3 gene on chromosome 5q11.

UniProtKB/Swiss-Prot : ⁷³ Familial adenomatous polyposis 4: 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. FAP4 inheritance is autosomal recessive.

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Related Diseases for Familial Adenomatous Polyposis 4

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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	cavernous sinus meningioma	9.7	MSH3 DHFR
2	megaloblastic anemia due to dihydrofolate reductase deficiency	9.6	MSH3 DHFR
3	megaloblastic anemia	9.6	MSH3 DHFR
4	fanconi anemia, complementation group a	9.5	MSH3 DHFR

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Symptoms & Phenotypes for Familial Adenomatous Polyposis 4

Human phenotypes related to Familial Adenomatous Polyposis 4:

⁵⁸ ³¹ (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	adenomatous colonic polyposis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0005227
2	colorectal polyposis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0200063
3	juvenile gastrointestinal polyposis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004784
4	colon cancer ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003003
5	multiple gastric polyps ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004394
6	astrocytoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0009592
7	stomach cancer ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012126
8	papilloma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012740
9	uterine leiomyoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000131
10	thyroid adenoma ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000854
11	renal cyst ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000107
12	ovarian dermoid cyst ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0025274
13	neoplasm of the skin ⁵⁸		Frequent (79-30%)
14	neoplasm of the rectum ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Neoplasia:
astrocytoma
thyroid adenoma
colorectal cancer
breast papilloma
increased susceptibility to multiple proliferative tumors or cancers
more

Abdomen Gastrointestinal:
colorectal adenomas, multiple
duodenal adenomas, multiple

Clinical features from OMIM®:

617100 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis 4 according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-3	8.62	DHFR MSH3

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Drugs & Therapeutics for Familial Adenomatous Polyposis 4

Search Clinical Trials , NIH Clinical Center for Familial Adenomatous Polyposis 4

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Genetic Tests for Familial Adenomatous Polyposis 4

Genetic tests related to Familial Adenomatous Polyposis 4:

#	Genetic test	Affiliating Genes
1	Familial Adenomatous Polyposis 4 ²⁹	MSH3

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Anatomical Context for Familial Adenomatous Polyposis 4

MalaCards organs/tissues related to Familial Adenomatous Polyposis 4:

⁴⁰

Thyroid, Colon, Breast

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Publications for Familial Adenomatous Polyposis 4

Articles related to Familial Adenomatous Polyposis 4:

#	Title	Authors	PMID	Year
1	Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. ⁵⁷ ⁶	Adam R...Aretz S	27476653	2016
2	Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. ⁶	Risinger JI...Barrett JC	8782829	1996
3	Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. ⁶¹	Ansari FA...Ahmad I	31372943	2019
4	Comprehensive assessment of candidate genes associated with fattening performance in Holstein-Friesian bulls. ⁶¹	Ardicli S...Balci F	31807610	2019
5	Synthesis and studies on the mGluR agonist activity of FAP4 stereoisomers. ⁶¹	Ivashkin P...Pannecoucke X	25958247	2015
6	Can combined 18F-FDG-PET and dynamic contrast-enhanced MRI predict behavior of desmoid tumors in patients with familial adenomatous polyposis? ⁶¹	Bhandari S...Clark SK	22965401	2012
7	Usefulness and impact on management of positive and negative capsule endoscopy. ⁶¹	Chami G...Bernstein CN	17853952	2007
8	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
9	Current trends in restorative proctocolectomy: introduction of an ultrasonically activated scalpel. ⁶¹	Kusunoki M...Yamamura T	10528778	1999
10	[Determinants of pouch function after continence-preserving proctocolectomy]. ⁶¹	Herbst F...Schiessel R	8390127	1993

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Genes for Familial Adenomatous Polyposis 4

Genes related to Familial Adenomatous Polyposis 4 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MSH3	MutS Homolog 3	Protein Coding	1393.05	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	27476653
2	DHFR	Dihydrofolate Reductase	Protein Coding	7.51	GeneCards inferred via : Variants (show sections)

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Variations for Familial Adenomatous Polyposis 4

ClinVar genetic disease variations for Familial Adenomatous Polyposis 4:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MSH3	NM_002439.5(MSH3):c.2319-1G>A	SNV	Pathogenic	253325	rs866260675	5:80074538-80074538	5:80778719-80778719
2	MSH3	NM_002439.5(MSH3):c.3001-2A>C	SNV	Pathogenic	253323	rs886037878	5:80160630-80160630	5:80864811-80864811
3	MSH3	NM_002439.5(MSH3):c.2760del (p.Tyr921fs)	Deletion	Pathogenic	253324	rs751326348	5:80109506-80109506	5:80813687-80813687
4	MSH3	NM_002439.5(MSH3):c.1148del (p.Lys383fs)	Deletion	Pathogenic	8738	rs587776701	5:79970915-79970915	5:80675096-80675096
5	MSH3	NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)	SNV	Likely pathogenic	802123	rs1580035037	5:80064781-80064781	5:80768962-80768962
6	MSH3	NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr)	SNV	Uncertain significance	785130	rs55724159	5:80037285-80037285	5:80741466-80741466
7	DHFR	NM_002439.5(MSH3):c.162_179del (p.Ala57_Ala62del)	Deletion	Likely benign	769652	rs201874762	5:79950700-79950717	5:80654881-80654898
8	MSH3	NM_002439.5(MSH3):c.1914_1916CTT[1] (p.Phe639del)	Microsatellite	not provided	585053	rs758193305	5:80063767-80063769	5:80767948-80767950

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Expression for Familial Adenomatous Polyposis 4

Search GEO for disease gene expression data for Familial Adenomatous Polyposis 4.

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Pathways for Familial Adenomatous Polyposis 4

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GO Terms for Familial Adenomatous Polyposis 4

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Sources for Familial Adenomatous Polyposis 4

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

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⁷¹ UMLS

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⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Familial Adenomatous Polyposis 4 (FAP4)

Aliases & Classifications for Familial Adenomatous Polyposis 4

MalaCards integrated aliases for Familial Adenomatous Polyposis 4:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Familial Adenomatous Polyposis 4

Related Diseases for Familial Adenomatous Polyposis 4

Diseases in the Familial Adenomatous Polyposis family:

Diseases related to Familial Adenomatous Polyposis 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Familial Adenomatous Polyposis 4

Human phenotypes related to Familial Adenomatous Polyposis 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis 4 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Familial Adenomatous Polyposis 4

Genetic Tests for Familial Adenomatous Polyposis 4

Genetic tests related to Familial Adenomatous Polyposis 4:

Anatomical Context for Familial Adenomatous Polyposis 4

MalaCards organs/tissues related to Familial Adenomatous Polyposis 4:

Publications for Familial Adenomatous Polyposis 4

Articles related to Familial Adenomatous Polyposis 4:

Genes for Familial Adenomatous Polyposis 4

Genes related to Familial Adenomatous Polyposis 4 (1 elite genes):

Variations for Familial Adenomatous Polyposis 4

ClinVar genetic disease variations for Familial Adenomatous Polyposis 4:

Expression for Familial Adenomatous Polyposis 4

Pathways for Familial Adenomatous Polyposis 4

GO Terms for Familial Adenomatous Polyposis 4

Sources for Familial Adenomatous Polyposis 4