Familial Adenomatous Polyposis 1; Fap1
Description
Familial adenomatous polyposis-1 is an autosomal dominant disorder characterized by predisposition to cancer. Affected individuals usually develop hundreds to thousands of adenomatous polyps of the colon and rectum, a small proportion of which will progress to colorectal carcinoma if not surgically treated. Gardner syndrome is a variant of FAP in which desmoid tumors, osteomas, and other neoplasms occur together with multiple adenomas of the colon and rectum (Nishisho et al., 1991).Rustgi (2007) reviewed the genetics of hereditary colon cancer, including APC.
Clinical Features
Top most frequent phenotypes and symptoms related to Familial Adenomatous Polyposis 1; Fap1
- Intellectual disability
- Neoplasm
- Abnormality of the dentition
- Kyphoscoliosis
- Carcinoma
- Intellectual disability, moderate
- Leukemia
- Carious teeth
- Infertility
- Hyperpigmentation of the skin
And another 46 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Familial Adenomatous Polyposis 1; Fap1 Is also known as apc, familial polyposis of the colon, fpc, adenomatous polyposis of the colon, polyposis, adenomatous intestinal.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Familial Adenomatous Polyposis 1; Fap1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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APC Comprehensive - Sequencing & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
APC
Specificity
100 %
Genes
100 % |
APC Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
APC
Specificity
100 %
Genes
100 % |
APC Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
APC
Specificity
100 %
Genes
100 % |
APC Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
APC
Specificity
100 %
Genes
100 % |
APC Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
APC
Specificity
100 %
Genes
100 % |
APC Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
APC
Specificity
100 %
Genes
100 % |
Hereditary Brain, CNS, PNS Cancer Panel.
By Baylor Miraca Genetics Laboratories (United States).
TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 % |
Hereditary Brain, CNS, PNS Cancer Panel.
By Baylor Miraca Genetics Laboratories (United States).
TP53, VHL, SUFU, PALB2, ALK, APC, MEN1, MLH1, MRE11, MSH2, MSH6, NBN, NF2, ATM, PMS2, PHOX2B, PTCH1
Specificity
6 %
Genes
100 % |
You can get up to 256 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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