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 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:

MalaCards categories:
Global: Genetic diseases Rare 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:

OMIM ⁵⁷ 617100

Orphanet ⁵⁹ ORPHA480536

MedGen ⁴² C4310719 CN238101

MeSH ⁴⁴ D011125

SNOMED-CT via HPO ⁶⁹ 258211005 255033000 255034006 more

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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 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.

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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

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

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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, Thyroid, Breast

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Publications for Familial Adenomatous Polyposis 4

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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	1378.46	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27476653

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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	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

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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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Sources for Familial Adenomatous Polyposis 4

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