Pheochromocytoma/paraganglioma syndrome 2

Preferred Label : Pheochromocytoma/paraganglioma syndrome 2;

Symbol : PPGL2;

CISMeF acronym : PGL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Glomus tumors, familial, 2; PGL2; Paragangliomas 2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the succinate dehydrogenase complex assembly factor-2 gene (SDHAF2, 613019.0001);

Neoplasia : Paragangliomas; Multiple tumors; Paragangliomas, head and neck; Chemodectomas; Carotid body tumors (most common); Glomus jugular tumors; Vagal nerve tumors (glomus vagale); Tympanic nerve tumors (glomus tympanicum);

Prefixed ID : #601650;

Details

Origin ID

601650;

UMLS CUI

C1866552;

Automatic exact mappings (from CISMeF team)
- SDHAF2 wt Allele [NCIt concept]
- symbol withdrawn PGL2 [HGNC gene]
Broader ORDO disease(s)
- Catecholamine-producing tumor [ORDO Disease]
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Currated CISMeF NLP mapping
- paragangliomas 2 [MeSH concept]
- paragangliomas 2 [MeSH Supplementary Concept]
DO Cross reference
- paraganglioma [DO Concept]
Genes related to phenotype
- Succinate dehydrogenase complex assembly factor 2 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chemodectoma [HPO term]
- Cranial nerve paralysis [HPO term]
- Glomus jugular tumor [HPO term]
- Glomus tympanicum paraganglioma [HPO term]
- Hoarse voice [HPO term]
- Loss of voice [HPO term]
- Multiple tumors [HPO term]
- Neoplasm [HPO term]
- Pulsatile tinnitus [HPO term]
- Vagal paraganglioma [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 2 [MeSH Supplementary Concept]
- paragangliomas 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients