Succinate Dehydrogenase-Deficient Renal Cell Carcinoma

Preferred Label : Succinate Dehydrogenase-Deficient Renal Cell Carcinoma;

NCIt synonyms : Succinate Dehydrogenase Renal Cell Carcinoma; SDH-RCC; SDH-Deficient Renal Cell Carcinoma; SDH Deficient Renal Cell Carcinoma;

NCIt definition : A very rare renal cell carcinoma that usually affects young adults. It is characterized by mutations in one of the four subunits of the SDH complex (SDHA, SDHB, SDHC, or SDHD gene). Most frequently, the mutations occur in the SDHB subunit. It has a relatively good prognosis.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL563184;

Details

Origin ID

C156464;

UMLS CUI

C4744841;

Disease excludes abnormal cell
- Malignant Squamous Cell [NCIt concept]
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
- Neoplastic Squamous Cell [NCIt concept]
Disease may have findings
- Flank Pain [NCIt concept]
- Hematuria [NCIt concept]
Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Kidney and Ureter [NCIt concept]
- Urinary System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Mixed Neoplastic Glandular and Squamous Cell Population [NCIt concept]
disease_has_abnormal_cell
- Adenocarcinoma Cell [NCIt concept]
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Glandular Cell [NCIt concept]
disease_has_finding
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Loss of Immunohistochemical Expression of Succinate Dehydrogenase (SDH) B [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Malignant Epithelial Cells with Cytoplasmic Vacuoles or Flocculent Cytoplasmic Inclusions Containing Wispy Eosinophilic Material Present [NCIt concept]
disease_has_molecular_abnormality
- SDH Complex Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
- Renal Tubular Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
- Renal Tubule Epithelium [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Kidney [NCIt concept]
- Renal Tubule [NCIt concept]
- Urinary System [NCIt concept]
disease_mapped_to_gene
- SDHA Gene [NCIt concept]
- SDHB Gene [NCIt concept]
- SDHC Gene [NCIt concept]
- SDHD Gene [NCIt concept]
disease_may_have_associated_disease
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
disease_may_have_molecular_abnormality
- SDHA 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
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
pathogenesis_of_disease_involves_gene
- SDHA Gene [NCIt concept]
- SDHA 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]

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