Details of Disease | DrugMAP

General Information of Disease (ID: DISULFVV)

Disease Name	Paragangliomas 3
Synonyms	glomus tumors, familial, 3; PGL3; SDHC-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3); paraganglioma caused by mutation in SDHC; SDHC paraganglioma; paragangliomas 3; paragangliomas type 3
Definition	Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene.
Disease Hierarchy	DISFK7RF: Adrenal gland neoplasm DIS2XXH5: Paraganglioma DISP9K7L: Hereditary pheochromocytoma-paraganglioma DISULFVV: Paragangliomas 3
Disease Identifiers	MONDO ID MONDO_0011544 MESH ID C565335 UMLS CUI C1854336 OMIM ID 605373 MedGen ID 340200

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SDHC	OTC8G2MX	Definitive	Autosomal dominant	[1]
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References

1	15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. Endocr Relat Cancer. 2015 Aug;22(4):T91-103. doi: 10.1530/ERC-15-0268.