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. Genetic Heterogeneity of Familial Adenomatous PolyposisSee also autosomal recessive FAP2 (OMIM ), caused by mutation in the MUTYH gene (OMIM ) on chromosome 1p34; autosomal recessive FAP3 (OMIM ), caused by mutation in the NTHL1 gene (OMIM ) on chromosome 16p13; and autosomal recessive FAP4 (OMIM ), caused by mutation in the MSH3 gene (OMIM ) on chromosome 5q11.

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.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Familial Adenomatous Polyposis 1; Fap1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %

We have 256 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2; ADSD2 LEBER CONGENITAL AMAUROSIS 2; LCA2 LAURENCE-MOON SYNDROME; LNMS VARIANT ABETA2M AMYLOIDOSIS CHROMOSOME 2p16.3 DELETION SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more