FAP4
MCID: FML339
MIFTS: 30
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Familial Adenomatous Polyposis 4 (FAP4)
Categories:
Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Familial Adenomatous Polyposis 4:
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:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases Anatomical: Gastrointestinal diseases Neuronal diseases Eye diseases Skin diseases Bone diseases
Orphanet: 58
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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. |
Diseases in the Familial Adenomatous Polyposis family:
Diseases related to Familial Adenomatous Polyposis 4 via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Familial Adenomatous Polyposis 4:58 31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617100 (Updated 05-Mar-2021)GenomeRNAi Phenotypes related to Familial Adenomatous Polyposis 4 according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Familial Adenomatous Polyposis 4:40
Thyroid,
Colon,
Breast
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Articles related to Familial Adenomatous Polyposis 4:
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ClinVar genetic disease variations for Familial Adenomatous Polyposis 4:6
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Search
GEO
for disease gene expression data for Familial Adenomatous Polyposis 4.
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