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MCID: FML299
MIFTS: 24
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Familial Adenomatous Polyposis 3
Categories:
Genetic diseases, Gastrointestinal diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Fetal diseases, Bone diseases
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MalaCards integrated aliases for Familial Adenomatous Polyposis 3:
Characteristics:Orphanet epidemiological data:59
nthl1-related attenuated familial adenomatous polyposis
Inheritance: Autosomal recessive; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
increased susceptibility to multiple carcinomas carcinomas tend to develop in mid or late adulthood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Gastrointestinal diseases Neuronal diseases Eye diseases Skin diseases Bone diseases
ICD10:
34
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OMIM
:
57
Familial adenomatous polyposis-3 is an autosomal recessive cancer predisposition syndrome characterized by the development of multiple colonic adenomas, often with progression to colorectal cancer. Carcinomas affecting other tissues may also occur, and the carcinomas tend to develop in middle age or late adulthood (summary by Weren et al., 2015).
For a discussion of genetic heterogeneity of familial adenomatous polyposis, see FAP1 (175100). (616415)
MalaCards based summary : Familial Adenomatous Polyposis 3, also known as fap3, is related to tuberous sclerosis 2 and tuberous sclerosis. An important gene associated with Familial Adenomatous Polyposis 3 is NTHL1 (Nth Like DNA Glycosylase 1). Affiliated tissues include colon, skin and breast, and related phenotypes are meningioma and breast carcinoma UniProtKB/Swiss-Prot : 75 Familial adenomatous polyposis 3: 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. |
Diseases in the Familial Adenomatous Polyposis family:
Diseases related to Familial Adenomatous Polyposis 3 via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616415Human phenotypes related to Familial Adenomatous Polyposis 3:32
MGI Mouse Phenotypes related to Familial Adenomatous Polyposis 3:46
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MalaCards organs/tissues related to Familial Adenomatous Polyposis 3:41
Colon,
Skin,
Breast
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Genes related to Familial Adenomatous Polyposis 3 (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Familial Adenomatous Polyposis 3:6
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Search
GEO
for disease gene expression data for Familial Adenomatous Polyposis 3.
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