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 Camila Xu + 766 word(s) 766 2020-12-15 07:27:02

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, C. Histiocytosis-Lymphadenopathy Plus Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4113 (accessed on 27 September 2026).
Xu C. Histiocytosis-Lymphadenopathy Plus Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4113. Accessed September 27, 2026.
Xu, Camila. "Histiocytosis-Lymphadenopathy Plus Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4113 (accessed September 27, 2026).
Xu, C. (2020, December 23). Histiocytosis-Lymphadenopathy Plus Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4113
Xu, Camila. "Histiocytosis-Lymphadenopathy Plus Syndrome." Encyclopedia. Web. 23 December, 2020.
Histiocytosis-Lymphadenopathy Plus Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/histiocytosis-lymphadenopathy-plus-syndrome

Histiocytosis-lymphadenopathy plus syndrome (also known as SLC29A3 spectrum disorder) is a group of conditions with overlapping signs and symptoms that affect many parts of the body. This group of disorders includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis, and familial Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy or SHML).

genetic conditions

References

  1. Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, Caillez D, Emile JF,Pastor-Anglada M, Abel L, Puel A, Govindarajan R, de Pontual L, Casanova JL. Amild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxicaltranslation of an otherwise noncoding mRNA splice variant. PLoS One.2012;7(1):e29708. doi: 10.1371/journal.pone.0029708.
  2. Kang N, Jun AH, Bhutia YD, Kannan N, Unadkat JD, Govindarajan R. Humanequilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impairnucleoside transport, protein localization, and stability. J Biol Chem. 2010 Sep 3;285(36):28343-52. doi: 10.1074/jbc.M110.109199.
  3. Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N,Keenan S, Pasha S, Rahman F, Gentle D, Vreeswijk MP, Devilee P, Knowles MA,Ceylaner S, Trembath RC, Dalence C, Kismet E, Köseoğlu V, Rossbach HC, Gissen P, Tannahill D, Maher ER. Mutations in SLC29A3, encoding an equilibrative nucleosidetransporter ENT3, cause a familial histiocytosis syndrome (Faisalabadhistiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010 Feb5;6(2):e1000833. doi: 10.1371/journal.pgen.1000833.
  4. Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y,Tenenbaum-Rakover Y, Newman WG, Donnai D, Shalev SA. Expanding the clinicalspectrum of SLC29A3 gene defects. Eur J Med Genet. 2010 Sep-Oct;53(5):309-13.doi: 10.1016/j.ejmg.2010.06.012.
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 : Camila Xu
View Times: 861
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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