Pheochromocytoma/paraganglioma syndrome 3

Preferred Label : Pheochromocytoma/paraganglioma syndrome 3;

Symbol : PPGL3;

CISMeF acronym : PGL3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomus tumors, familial, 3; PGL3; Paragangliomas 3;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the succinate dehydrogenase complex subunit C gene (SDHC, 602413.0001);

Neoplasia : Paragangliomas; Multiple tumors; Paragangliomas, head and neck; Chemodectomas; Carotid body tumors; Glomus jugular tumors; Pheochromocytoma, adrenal; Pheochromocytoma, extraadrenal; Rarely malignant;

Laboratory abnormalities : Elevated catecholamines (in patients with pheochromocytoma);

Prefixed ID : #605373;

Details

Origin ID

605373;

UMLS CUI

C1854336;

Automatic exact mappings (from CISMeF team)
- SDHC wt Allele [NCIt concept]
- symbol withdrawn PGL3 [HGNC gene]
Broader ORDO disease(s)
- Catecholamine-producing tumor [ORDO Disease]
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Currated CISMeF NLP mapping
- paragangliomas 3 [MeSH concept]
- paragangliomas 3 [MeSH Supplementary Concept]
DO Cross reference
- paraganglioma [DO Concept]
Genes related to phenotype
- Succinate dehydrogenase Complex, subunit C [OMIM gene]
HPO term(s)
- Adrenal pheochromocytoma [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chemodectoma [HPO term]
- Cranial nerve paralysis [HPO term]
- Diaphoresis [HPO term]
- Elevated circulating catecholamine level [HPO term]
- Episodic paroxysmal anxiety [HPO term]
- Extraadrenal pheochromocytoma [HPO term]
- Glomus jugular tumor [HPO term]
- Hoarse voice [HPO term]
- Hyperhidrosis [HPO term]
- Hypertension associated with pheochromocytoma [HPO term]
- Loss of voice [HPO term]
- Multiple tumors [HPO term]
- Neoplasm [HPO term]
- Palpitations [HPO term]
- Pulsatile tinnitus [HPO term]
- Recurrent paroxysmal headache [HPO term]
- Tachycardia [HPO term]
- Vocal cord paralysis [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- paragangliomas 3 [MeSH Supplementary Concept]
- paragangliomas 3 [MeSH concept]

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