Orphanet: SLC35A1 CDG_Code

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( 3000 characters remaining) <div class="blockWarning"> <i class="ad-alerte icon"> </i> <h3> Attention </h3> <p> 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 <a href="Directory_Contact.php?lng=EN&type_list=CONTACT_FORM&StaticId=29"> contact us </a> . Only comments written in English can be processed. </p> <p> Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact <a href="Directory_Contact.php?lng=EN&type_list=CONTACT_FORM&StaticId=29"> </a> </p> <p> <a href="Directory_Contact.php?lng=EN&type_list=CONTACT_FORM&StaticId=29"> 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 </a> <a href="Education_AboutOrphanet.php?lng=EN&stapage=CGU#RGPDAnchor"> section General Data Protection Regulation and data privacy (GDPR) and Confidentiality) </a> .  </p> <h2> SLC35A1-CDG </h2> <div class="definition"> <p class="title-h3"> Disease definition </p> <section> <p> SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage. </p> </section> </div> <h3> ORPHA:238459 </h3> <a href="Disease_Classif_Simple.php?lng=EN&LnkId=19265"> Classification level: Disorder </a> <li> <em> Synonym(s): </em> </li> <li> <strong> CDG syndrome type IIf </strong> </li> <li> <strong> CDG-IIf </strong> </li> <li> <strong> CDG2F </strong> </li> <li> <strong> CMP-sialic acid transporter deficiency </strong> </li> <li> <strong> Carbohydrate deficient glycoprotein syndrome type IIf </strong> </li> <li> <strong> Congenital disorder of glycosylation type 2f </strong> </li> <li> <strong> Congenital disorder of glycosylation type IIf </strong> </li> <li> <em> Prevalence: </em> <strong> <1 / 1 000 000 </strong> </li> <li> <em> Inheritance: </em> <strong> No data available </strong> </li> <li> <em> Age of onset: </em> <strong> Infancy </strong> , <strong> Neonatal </strong> </li> <li> <em> ICD-10: </em> <strong> E77.8 </strong> </li> <li> <em> ICD-11: </em> <strong> <a class="lien_ext" href="https://icd.who.int/browse11/l-m/en#/http://id.who.int/icd/entity/684473574" target="_blank"> 5C54.2 </a> </strong> </li> <li> <em> OMIM: </em> <strong> <a class="lien_ext" href="http://omim.org/entry/603585" target="_blank"> 603585 </a> </strong> </li> <li> <em> UMLS: </em> <strong> C1970344 </strong> </li> <li> <em> MeSH: </em> <strong> C567040 </strong> </li> <li> <em> GARD: </em> <strong> <a class="lien_ext" href="https://rarediseases.info.nih.gov/diseases/12409/index" target="_blank"> 12409 </a> </strong> </li> <li> <em> MedDRA: </em> <strong> - </strong> </li> <p> Our Website does not host any form of advertising Our partnerships do not influence our editorial policy </p> <p class="copyright"> &copy everythingpossible / Fotolia © Orphanet version 5.54.0 - Last updated: 2023-11-24 </p> </div> </ul> </h3> <div class="sep10"></div> </div> </div> </div> <div class="topic_buttons"> <div class="fr gray f11" style="line-height: 12px; 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