Pheochromocytoma/paraganglioma syndrome 7

Preferred Label : Pheochromocytoma/paraganglioma syndrome 7;

Symbol : PPGL7;

CISMeF acronym : PGL7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PGL7; Paragangliomas 7;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the dihydrolipoamide S-succinyltransferase gene (DLST, 126063.0001);

Neoplasia : Pheochromocytoma; Paragangliomas; Tumors tend to be abdominal; Tumors are benign;

Laboratory abnormalities : Tumors often secrete normetanephrine;

Prefixed ID : #618475;

Details

Origin ID

618475;

UMLS CUI

C5193116;

Genes related to phenotype
- Dihydrolipoamide s-succinyltransferase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Incomplete penetrance [HPO term]
- Paraganglioma [HPO term]
- Pheochromocytoma [HPO term]
ORDO concept(s)
- Hereditary pheochromocytoma-paraganglioma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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