General Information of Disease (ID: DISKSBCQ)

Disease Name Paragangliomas 5
Synonyms PGL5; SDHA paraganglioma; paragangliomas type 5; paraganglioma caused by mutation in SDHA; paragangliomas 5
Definition Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene.
Disease Hierarchy
DISNVYSW: Central nervous system cancer
DISNFZKJ: Adrenal gland cancer
DISTWVT3: Peripheral nervous system cancer
DISDQ6PK: Malignant urinary system neoplasm
DIS2XXH5: Paraganglioma
DISP9K7L: Hereditary pheochromocytoma-paraganglioma
DISKSBCQ: Paragangliomas 5
Disease Identifiers
MONDO ID
MONDO_0013602
UMLS CUI
C3279992
OMIM ID
614165
MedGen ID
481622

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
SDHA OTOJ8QFF Definitive Autosomal dominant [1]
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References

1 Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study. J Clin Endocrinol Metab. 2018 Feb 1;103(2):438-445. doi: 10.1210/jc.2017-01762.