Hereditary Paraganglioma

Preferred Label : Hereditary Paraganglioma;

NCIt synonyms : SDH-Related Familial Paraganglioma; Familial Paraganglioma;

NCIt definition : A hereditary neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.;

Neoplastic status : Undetermined;

Details

Origin ID

C5329;

UMLS CUI

C1333993;

Disease excludes abnormal cell
- Large Osteoclastic Giant Cell [NCIt concept]
- Neoplastic Endothelial Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Disease excludes normal cell origin
- Endothelial Cell [NCIt concept]
Disease may have findings
- Multifocal Lesion [NCIt concept]
- Nesting (Zellballen) Growth Pattern [NCIt concept]
- Trabecular Pattern [NCIt concept]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Endocrine Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
- Neoplastic Neuroendocrine Cell [NCIt concept]
disease_has_associated_disease
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
disease_has_finding
- Endocrine Differentiation [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Expression of Neuroendocrine Markers Present [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Neuroendocrine Differentiation [NCIt concept]
disease_has_molecular_abnormality
- SDH Complex Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
- Neural Crest-Derived Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Autonomic Nervous System [NCIt concept]
- Peripheral Nerve [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]
- 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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