Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Rita Xu + 591 word(s) 591 2020-12-15 07:34:19

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, R. PMM2-Congenital Disorder of Glycosylation. Encyclopedia. Available online: https://encyclopedia.pub/entry/4867 (accessed on 28 September 2026).
Xu R. PMM2-Congenital Disorder of Glycosylation. Encyclopedia. Available at: https://encyclopedia.pub/entry/4867. Accessed September 28, 2026.
Xu, Rita. "PMM2-Congenital Disorder of Glycosylation" Encyclopedia, https://encyclopedia.pub/entry/4867 (accessed September 28, 2026).
Xu, R. (2020, December 24). PMM2-Congenital Disorder of Glycosylation. In Encyclopedia. https://encyclopedia.pub/entry/4867
Xu, Rita. "PMM2-Congenital Disorder of Glycosylation." Encyclopedia. Web. 24 December, 2020.
PMM2-Congenital Disorder of Glycosylation
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pmm2-congenital-disorder-of-glycosylation

PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.

genetic conditions

References

  1. de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H,Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N,Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A,Saudubray JM, Cormier-Daire V. A broad spectrum of clinical presentations incongenital disorders of glycosylation I: a series of 26 cases. J Med Genet. 2001 Jan;38(1):14-9.
  2. Grünewald S. The clinical spectrum of phosphomannomutase 2 deficiency(CDG-Ia). Biochim Biophys Acta. 2009 Sep;1792(9):827-34. doi:10.1016/j.bbadis.2009.01.003.
  3. Haeuptle MA, Hennet T. Congenital disorders of glycosylation: an update ondefects affecting the biosynthesis of dolichol-linked oligosaccharides. HumMutat. 2009 Dec;30(12):1628-41. doi: 10.1002/humu.21126. Review.
  4. Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: time for achange! Biochim Biophys Acta. 2009 Sep;1792(9):825-6. doi:10.1016/j.bbadis.2009.08.005.
  5. Krasnewich D, O'Brien K, Sparks S. Clinical features in adults with congenitaldisorders of glycosylation type Ia (CDG-Ia). Am J Med Genet C Semin Med Genet.2007 Aug 15;145C(3):302-6. Review.
  6. Monin ML, Mignot C, De Lonlay P, Héron B, Masurel A, Mathieu-Dramard M,Lenaerts C, Thauvin C, Gérard M, Roze E, Jacquette A, Charles P, de Baracé C,Drouin-Garraud V, Khau Van Kien P, Cormier-Daire V, Mayer M, Ogier H, Brice A,Seta N, Héron D. 29 French adult patients with PMM2-congenital disorder ofglycosylation: outcome of the classical pediatric phenotype and depiction of alate-onset phenotype. Orphanet J Rare Dis. 2014 Dec 11;9:207. doi:10.1186/s13023-014-0207-4.
  7. Sparks SE, Krasnewich DM. PMM2-CDG (CDG-Ia). 2005 Aug 15 [updated 2015 Oct29]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1110/
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 801
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 07 Mar 2021
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback