# Nuclide record sdh-deficiency (term). Data CC BY-NC 4.0, attribute "Data from Nuclide (nuclide.cc)". Whole corpus: https://nuclide.cc/api/v1/nuclide.nt
@prefix schema: <https://schema.org/> .
@prefix nuclide: <https://nuclide.cc/ns#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://nuclide.cc/terms/sdh-deficiency/>
  a schema:DefinedTerm ;
  nuclide:kind "term" ;
  schema:identifier "sdh-deficiency" ;
  schema:name "SDH deficiency (SDHB immunohistochemistry loss)"@en ;
  schema:alternateName "SDH-deficient"@en, "SDH-deficient GIST"@en, "SDHB immunohistochemistry"@en, "SDHB loss"@en, "SDHB-negative"@en, "SDHx"@en, "SDHx mutation"@en, "SDHA"@en, "SDHC epimutation"@en, "SDHC promoter methylation"@en, "succinate dehydrogenase deficiency"@en, "Carney-Stratakis syndrome"@en, "Carney triad"@en, "KIT/PDGFRA wild-type GIST"@en, "hereditary paraganglioma syndrome"@en, "SDH-deficient renal cell carcinoma"@en ;
  schema:description "Loss of the succinate dehydrogenase enzyme, shown by a negative SDHB stain, marks a small family of tumours (some stomach GISTs, paragangliomas and phaeochromocytomas, a rare kidney cancer) that are often inherited, occur in young people, ignore imatinib and grow slowly; the stain is the trigger for germline testing of the whole family."@en ;
  schema:url <https://nuclide.cc/terms/sdh-deficiency/> ;
  schema:dateModified "2026-09-17"^^xsd:date ;
  nuclide:related <https://nuclide.cc/drugs/sunitinib/>, <https://nuclide.cc/drugs/temozolomide/>, <https://nuclide.cc/drugs/lutathera/>, <https://nuclide.cc/isotopes/lu-177/>, <https://nuclide.cc/isotopes/i-131/> .