Orphanet: Familial adenomatous polyposis due to 5q22.2 microdeletion

Search for a rare disease

Other search option(s)

Alphabetical list

Suggest an update

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Familial adenomatous polyposis due to 5q22.2 microdeletion

ORPHA:261584

Classification level: Subtype of disorder

Synonym(s):
- Colorectal adenomatous polyposis due to monosomy 5q22.2
- FAP due to monosomy 5q22.2
- Familial adenomatous polyposis due to del(5)(q22.2)
- Familial adenomatous polyposis due to monosomy 5q22.2
- Familial polyposis coli due to monosomy 5q22.2
Prevalence: -
Inheritance: -
Age of onset: Adult
ICD-10: D12.6
ICD-11: 2B90.Y
OMIM: -
UMLS: C5548205
MeSH: -
GARD: -
MedDRA: -

Summary

This disease is described under Familial adenomatous polyposis

Detailed information

General public

Article for general public
Deutsch (2018, pdf) - Familienhilfe Polyposis Coli e.V

Guidelines

Clinical practice guidelines
English (2012) - J Pediatr Hematol Oncol
English (2019) - Endoscopy

Disease review articles

Clinical genetics review
English (2022) - GeneReviews

Clinical Outcome Assessment (COA)

Patient-Centered Outcome Measures (PCOMs)
English (2023) - PROQOLID^TM

Genetic Testing

Guidance for genetic testing
English (2011) - Eur J Hum Genet

produced/endorsed by ERN(s) FSMR

produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.