Details of Disease

General Information of Disease (ID: DIS19SG7)

Disease Name Paragangliomas 2
Synonyms
glomus tumors, familial, 2; SDHAF2-related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2); PGL2; paragangliomas 2; paragangliomas type 2; SDHAF2 paraganglioma; paraganglioma caused by mutation in SDHAF2
Definition Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 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
DIS19SG7: Paragangliomas 2
Disease Identifiers
MONDO ID
MONDO_0011121
MESH ID
C566646
UMLS CUI
C1866552
OMIM ID
601650
MedGen ID
357076

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
SDHAF2 OT0UG9H5 Definitive Autosomal dominant [1]
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References

1 Genetic aspects of nonchromaffin paraganglioma. Hum Genet. 1982;60(4):305-9. doi: 10.1007/BF00569208.