MCID: FML339
MIFTS: 21

Familial Adenomatous Polyposis 4

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

Aliases & Classifications for Familial Adenomatous Polyposis 4

MalaCards integrated aliases for Familial Adenomatous Polyposis 4:

Name: Familial Adenomatous Polyposis 4 57 75 29 6
Fap4 57 75
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:
increased susceptibility to multiple carcinomas
colorectal adenomas develop in mid adulthood (30s)
two unrelated families have been reported (last curated august 2016)


HPO:

32
familial adenomatous polyposis 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617100
Orphanet 59 ORPHA480536
MeSH 44 D011125

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 thyroid, and related phenotypes are thyroid adenoma and astrocytoma

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
colorectal adenomas, multiple
duodenal adenomas, multiple

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

Clinical features from OMIM:

617100

Human phenotypes related to Familial Adenomatous Polyposis 4:

32
# Description HPO Frequency HPO Source Accession
1 thyroid adenoma 32 HP:0000854
2 astrocytoma 32 HP:0009592
3 stomach cancer 32 HP:0012126

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, Thyroid, Breast

Publications for Familial Adenomatous Polyposis 4

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.3001-2A> C single nucleotide variant Pathogenic rs886037878 GRCh37 Chromosome 5, 80160630: 80160630
4 MSH3 NM_002439.4(MSH3): c.3001-2A> C single nucleotide variant Pathogenic rs886037878 GRCh38 Chromosome 5, 80864811: 80864811
5 MSH3 NM_002439.4(MSH3): c.2760delC (p.Tyr921Metfs) deletion Pathogenic rs886037879 GRCh37 Chromosome 5, 80109507: 80109507
6 MSH3 NM_002439.4(MSH3): c.2760delC (p.Tyr921Metfs) deletion Pathogenic rs886037879 GRCh38 Chromosome 5, 80813688: 80813688
7 MSH3 NM_002439.4(MSH3): c.2319-1G> A single nucleotide variant Pathogenic rs866260675 GRCh37 Chromosome 5, 80074538: 80074538
8 MSH3 NM_002439.4(MSH3): c.2319-1G> A single nucleotide variant Pathogenic rs866260675 GRCh38 Chromosome 5, 80778719: 80778719

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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