FAP4
MCID: FML339
MIFTS: 30

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 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:

Orphanet: 58  
Rare gastroenterological diseases


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.

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

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

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:

40
Thyroid, Colon, Breast

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
27476653 2016
2
Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. 6
8782829 1996
3
Isolation, functional characterization and efficacy of biofilm-forming rhizobacteria under abiotic stress conditions. 61
31372943 2019
4
Comprehensive assessment of candidate genes associated with fattening performance in Holstein-Friesian bulls. 61
31807610 2019
5
Synthesis and studies on the mGluR agonist activity of FAP4 stereoisomers. 61
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
22965401 2012
7
Usefulness and impact on management of positive and negative capsule endoscopy. 61
17853952 2007
8
Inhibition by apple polyphenols of ADP-ribosyltransferase activity of cholera toxin and toxin-induced fluid accumulation in mice. 61
12061627 2002
9
Current trends in restorative proctocolectomy: introduction of an ultrasonically activated scalpel. 61
10528778 1999
10
[Determinants of pouch function after continence-preserving proctocolectomy]. 61
8390127 1993

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

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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