Pheochromocytoma/paraganglioma syndrome 6

Preferred Label : Pheochromocytoma/paraganglioma syndrome 6;

Symbol : PPGL6;

CISMeF acronym : PGL6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PGL6; Paragangliomas 6;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, oxoglutarate carrier), member 11 gene (SLC25A11, 604165.0001);

Neoplasia : Paragangliomas;

Laboratory abnormalities : Increased catecholamines (in some patients);

Prefixed ID : #618464;

Détails

Origin ID

618464;

UMLS CUI

C5193112;

Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, oxoglutarate carrier), member 11 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating catecholamine level [HPO term]
- Hypertension [HPO term]
- Paraganglioma [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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