Hereditary Paraganglioma-Pheochromocytoma Syndrome

Preferred Label : Hereditary Paraganglioma-Pheochromocytoma Syndrome;

NCIt synonyms : Familial Pheochromocytoma-Paraganglioma Syndrome; Hereditary Pheochromocytoma-Paraganglioma Syndrome; Familial Paraganglioma-Pheochromocytoma Syndrome;

NCIt definition : A hereditary cancer syndrome characterized by the development of multiple paragangliomas including pheochromocytomas. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.;

NCI Metathesaurus CUI : CL1798933;

Details

Origin ID

C190373;

UMLS CUI

C5783670;

Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_has_associated_disease
- Paraganglioma [NCIt concept]
disease_has_associated_disease
- Hereditary Adrenal Gland Pheochromocytoma [NCIt concept]
- Hereditary Paraganglioma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- SDH Complex Gene Mutation [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_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]
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]

Keyword's position in hierarchy(ies) :

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