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 ⁷⁴ ²⁹ ⁶

Fap4 ⁵⁷ ⁷⁴

Msh3-Related Attenuated Familial Adenomatous Polyposis ⁵⁹

Msh3-Related Attenuated Familial Polyposis Coli ⁵⁹

Msh3-Related Attenuated Fap ⁵⁹

Msh3-Related Afap ⁵⁹

Characteristics:

OMIM:

⁵⁷

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:

³²

familial adenomatous polyposis 4:
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)

Orphanet: ⁵⁹

Rare gastroenterological diseases

External Ids:

Disease Ontology ¹² DOID:0080412

OMIM ⁵⁷ 617100 PS175100

MeSH ⁴⁴ D011125

Orphanet ⁵⁹ ORPHA480536

MedGen ⁴² C4310719 CN238101

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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)

MalaCards based summary : Familial Adenomatous Polyposis 4, is also known as fap4. An important gene associated with Familial Adenomatous Polyposis 4 is MSH3 (MutS Homolog 3). Affiliated tissues include colon, skin 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 : ⁷⁴ 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

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Symptoms & Phenotypes for Familial Adenomatous Polyposis 4

Human phenotypes related to Familial Adenomatous Polyposis 4:

⁵⁹ ³² (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	adenomatous colonic polyposis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0005227
2	colorectal polyposis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0200063
3	juvenile gastrointestinal polyposis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004784
4	colon cancer ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0003003
5	multiple gastric polyps ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0004394
6	thyroid adenoma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000854
7	astrocytoma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0009592
8	stomach cancer ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012126
9	papilloma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012740
10	uterine leiomyoma ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000131
11	renal cyst ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000107
12	ovarian dermoid cyst ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0025274
13	neoplasm of the skin ⁵⁹		Frequent (79-30%)
14	neoplasm of the rectum ⁵⁹		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

⁵⁷

Neoplasia:
thyroid adenoma
astrocytoma
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

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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:

⁴¹

Colon, Skin, Breast, Thyroid

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Publications for Familial Adenomatous Polyposis 4

Articles related to Familial Adenomatous Polyposis 4:

(show all 11)

#	Title	Authors	PMID	Year
1	Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. ⁸ ⁷¹	Adam R...Aretz S	27476653	2016
2	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
3	Guidelines for the clinical management of familial adenomatous polyposis (FAP). ⁷¹	Vasen HF...Wijnen J	18194984	2008
4	Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. ⁷¹	Risinger JI...Barrett JC	8782829	1996
5	Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. ³⁸	Ansari FA...Ahmad I	31372943	2019
6	Synthesis and studies on the mGluR agonist activity of FAP4 stereoisomers. ³⁸	Ivashkin P...Pannecoucke X	25958247	2015
7	Can combined 18F-FDG-PET and dynamic contrast-enhanced MRI predict behavior of desmoid tumors in patients with familial adenomatous polyposis? ³⁸	Bhandari S...Clark SK	22965401	2012
8	Usefulness and impact on management of positive and negative capsule endoscopy. ³⁸	Chami G...Bernstein CN	17853952	2007
9	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
10	Current trends in restorative proctocolectomy: introduction of an ultrasonically activated scalpel. ³⁸	Kusunoki M...Yamamura T	10528778	1999
11	[Determinants of pouch function after continence-preserving proctocolectomy]. ³⁸	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	PubmedIds
1	MSH3	MutS Homolog 3	Protein Coding	1378.36	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27476653 8782829

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Variations for Familial Adenomatous Polyposis 4

ClinVar genetic disease variations for Familial Adenomatous Polyposis 4:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	MSH3	NM_002439.5(MSH3): c.1148del (p.Lys383fs)	deletion	Pathogenic	rs587776701	5:79970922-79970922	5:80675103-80675103
2	MSH3	NM_002439.5(MSH3): c.3001-2A> C	single nucleotide variant	Pathogenic	rs886037878	5:80160630-80160630	5:80864811-80864811
3	MSH3	NM_002439.5(MSH3): c.2760del (p.Tyr921fs)	deletion	Pathogenic	rs751326348	5:80109507-80109507	5:80813688-80813688
4	MSH3	NM_002439.5(MSH3): c.2319-1G> A	single nucleotide variant	Pathogenic	rs866260675	5:80074538-80074538	5:80778719-80778719
5	MSH3	NM_002439.5(MSH3): c.1914_1916CTT[1] (p.Phe639del)	short repeat	Uncertain significance		5:80063772-80063774	5:80767953-80767955

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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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⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ 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:

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:

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