Succinate Dehydrogenase-Deficient Tumor Syndrome

Preferred Label : Succinate Dehydrogenase-Deficient Tumor Syndrome;

NCIt synonyms : Hereditary Paraganglioma-Pheochromocytoma Syndrome; SDHx-Related Syndromes; SDH Deficient Tumor Syndrome; SDH-Deficient Tumor Syndrome;

NCIt 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.;

Détails

Origin ID

C48300;

UMLS CUI

C1708353;

Currated CISMeF NLP mapping
- Hereditary pheochromocytoma and paraganglioma (disorder) [SNOMED CT concept]
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
- hereditary paraganglioma pheochromocytoma [Disease (Nov.)]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
disease_mapped_to_gene
- SDHA Gene [NCIt concept]
- SDHAF2 Gene [NCIt concept]
- SDHB Gene [NCIt concept]
- SDHC Gene [NCIt concept]
- SDHD Gene [NCIt concept]
disease_may_have_associated_disease
- Paraganglioma [NCIt concept]
- Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- SDHA Gene Mutation [NCIt concept]
- SDHAF2 Gene Mutation [NCIt concept]
- SDHB Gene Mutation [NCIt concept]
- SDHC Gene Mutation [NCIt concept]
- SDHD Gene Mutation [NCIt concept]
may_be_associated_disease_of_disease
- Advanced Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Metastatic Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Unresectable Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- SDHA Gene [NCIt concept]
- SDHA wt Allele [NCIt concept]
- SDHAF2 Gene [NCIt concept]
- SDHAF2 wt Allele [NCIt concept]
- SDHB Gene [NCIt concept]
- SDHB wt Allele [NCIt concept]
- SDHC Gene [NCIt concept]
- SDHC wt Allele [NCIt concept]
- SDHD Gene [NCIt concept]
- SDHD wt Allele [NCIt concept]
related_to_genetic_biomarker
- MAX Gene [NCIt concept]
- SDHA Gene [NCIt concept]
- SDHAF2 Gene [NCIt concept]
- SDHB Gene [NCIt concept]
- SDHC Gene [NCIt concept]
- SDHD Gene [NCIt concept]
- TMEM127 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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