C48300Level 6
Succinate Dehydrogenase-Deficient Tumor Syndrome
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant hereditary neoplastic syndrome caused by mutations in the SDHA,SDHB, SDHC, SDHD, and SDHAF2 genes. It is characterized by the development of paragangliomas and pheochromocytomas, gastrointestinal stromal tumors, and SDH-deficient renal cell carcinomas.
**Synonyms:** - SDH Deficient Tumor Syndrome - SDH-Deficient Tumor Syndrome - SDHx-Related Syndromes
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