Details of Disease | DrugMAP

General Information of Disease (ID: DISZ7KOC)

Disease Name	Paragangliomas 1
Synonyms	glomus jugulare tumors; PGL1; Paragangliomata; paragangliomas with sensorineural hearing loss; paragangliomas, familial nonchromaffin, 1; carotid body tumors; glomus jugulare tumours; carotid body tumours; chemodectomas; glomus tumors, familial, 1; paraganglioma, carotid body; paragangliomas, familial, 1; paragangliomas 1, with or without deafness; paraganglioma caused by mutation in SDHD; paragangliomas type 1; SDHD paraganglioma; paragangliomas 1
Definition	Any paraganglioma in which the cause of the disease is a mutation in the SDHD gene.
Disease Hierarchy	DISFK7RF: Adrenal gland neoplasm DIS2XXH5: Paraganglioma DISP9K7L: Hereditary pheochromocytoma-paraganglioma DISZ7KOC: Paragangliomas 1
Disease Identifiers	MONDO ID MONDO_0008192 MESH ID D005925 UMLS CUI C3494181 OMIM ID 168000 MedGen ID 488134

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SDHD	TTVH9W8	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SDHD	OTYZ8XRH	Definitive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.