FAP4
MCID: FML339
MIFTS: 25

Familial Adenomatous Polyposis 4 (FAP4)

Categories: Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Familial Adenomatous Polyposis 4

MalaCards integrated aliases for Familial Adenomatous Polyposis 4:

Name: Familial Adenomatous Polyposis 4 58 12 76 30 6
Fap4 58 76
Msh3-Related Attenuated Familial Adenomatous Polyposis 60
Msh3-Related Attenuated Familial Polyposis Coli 60
Msh3-Related Attenuated Fap 60
Msh3-Related Afap 60

Characteristics:

OMIM:

58
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:

33
familial adenomatous polyposis 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Familial Adenomatous Polyposis 4

OMIM : 58 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 thyroid, 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 : 76 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.

Related Diseases for Familial Adenomatous Polyposis 4

Symptoms & Phenotypes for Familial Adenomatous Polyposis 4

Human phenotypes related to Familial Adenomatous Polyposis 4:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adenomatous colonic polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005227
2 colorectal polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0200063
3 juvenile gastrointestinal polyposis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004784
4 colon cancer 60 33 frequent (33%) Frequent (79-30%) HP:0003003
5 multiple gastric polyps 60 33 frequent (33%) Frequent (79-30%) HP:0004394
6 thyroid adenoma 60 33 frequent (33%) Frequent (79-30%) HP:0000854
7 astrocytoma 60 33 frequent (33%) Frequent (79-30%) HP:0009592
8 stomach cancer 60 33 frequent (33%) Frequent (79-30%) HP:0012126
9 papilloma 60 33 frequent (33%) Frequent (79-30%) HP:0012740
10 uterine leiomyoma 60 33 frequent (33%) Frequent (79-30%) HP:0000131
11 renal cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0000107
12 ovarian dermoid cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0025274
13 neoplasm of the skin 60 Frequent (79-30%)
14 neoplasm of the rectum 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
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

Drugs & Therapeutics for Familial Adenomatous Polyposis 4

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

Genetic Tests for Familial Adenomatous Polyposis 4

Genetic tests related to Familial Adenomatous Polyposis 4:

# Genetic test Affiliating Genes
1 Familial Adenomatous Polyposis 4 30 MSH3

Anatomical Context for Familial Adenomatous Polyposis 4

MalaCards organs/tissues related to Familial Adenomatous Polyposis 4:

42
Colon, Skin, Thyroid, Breast, Eye

Publications for Familial Adenomatous Polyposis 4

Articles related to Familial Adenomatous Polyposis 4:

# Title Authors Year
1
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. ( 27476653 )
2016
2
Synthesis and studies on the mGluR agonist activity of FAP4 stereoisomers. ( 25958247 )
2015
3
Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. ( 8782829 )
1996

Variations for Familial Adenomatous Polyposis 4

ClinVar genetic disease variations for Familial Adenomatous Polyposis 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH3 NM_002439.4(MSH3): c.1148delA (p.Lys383Argfs) deletion Pathogenic rs587776701 GRCh38 Chromosome 5, 80675103: 80675103
2 MSH3 NM_002439.4(MSH3): c.1148delA (p.Lys383Argfs) deletion Pathogenic rs587776701 GRCh37 Chromosome 5, 79970922: 79970922
3 MSH3 NM_002439.4(MSH3): c.2319-1G> A single nucleotide variant Pathogenic rs866260675 GRCh37 Chromosome 5, 80074538: 80074538
4 MSH3 NM_002439.4(MSH3): c.2319-1G> A single nucleotide variant Pathogenic rs866260675 GRCh38 Chromosome 5, 80778719: 80778719
5 MSH3 NM_002439.4(MSH3): c.3001-2A> C single nucleotide variant Pathogenic rs886037878 GRCh37 Chromosome 5, 80160630: 80160630
6 MSH3 NM_002439.4(MSH3): c.3001-2A> C single nucleotide variant Pathogenic rs886037878 GRCh38 Chromosome 5, 80864811: 80864811
7 MSH3 NM_002439.4(MSH3): c.2760delC (p.Tyr921Metfs) deletion Pathogenic rs751326348 GRCh37 Chromosome 5, 80109507: 80109507
8 MSH3 NM_002439.4(MSH3): c.2760delC (p.Tyr921Metfs) deletion Pathogenic rs751326348 GRCh38 Chromosome 5, 80813688: 80813688
9 MSH3 NM_002439.4(MSH3): c.1917_1919delCTT (p.Phe639del) deletion not provided GRCh37 Chromosome 5, 80063772: 80063774
10 MSH3 NM_002439.4(MSH3): c.1917_1919delCTT (p.Phe639del) deletion not provided GRCh38 Chromosome 5, 80767953: 80767955

Expression for Familial Adenomatous Polyposis 4

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

Pathways for Familial Adenomatous Polyposis 4

GO Terms for Familial Adenomatous Polyposis 4

Sources for Familial Adenomatous Polyposis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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