FAP4
MCID: FML339
MIFTS: 26

Familial Adenomatous Polyposis 4 (FAP4)

Categories: Bone diseases, 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 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:



External Ids:

Disease Ontology 12 DOID:0080412
MeSH 44 D011125
Orphanet 59 ORPHA480536

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.

Related Diseases for Familial Adenomatous Polyposis 4

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

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 29 MSH3

Anatomical Context for Familial Adenomatous Polyposis 4

MalaCards organs/tissues related to Familial Adenomatous Polyposis 4:

41
Colon, Skin, Breast, Thyroid

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
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
25394175 2015
3
Guidelines for the clinical management of familial adenomatous polyposis (FAP). 71
18194984 2008
4
Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. 71
8782829 1996
5
Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. 38
31372943 2019
6
Synthesis and studies on the mGluR agonist activity of FAP4 stereoisomers. 38
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
22965401 2012
8
Usefulness and impact on management of positive and negative capsule endoscopy. 38
17853952 2007
9
Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. 38
12061627 2002
10
Current trends in restorative proctocolectomy: introduction of an ultrasonically activated scalpel. 38
10528778 1999
11
[Determinants of pouch function after continence-preserving proctocolectomy]. 38
8390127 1993

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

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
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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