Details of Disease

General Information of Disease (ID: DISTCBTV)

Disease Name Paragangliomas 4
Synonyms
pheochromocytoma, extraadrenal and cervical paraganglioma; PGL4; SDHB-related hereditary paraganglioma-pheochromocytoma syndrome; paragangliomas, hereditary extraadrenal; paraganglioma, familial malignant; pheochromocytoma, extraadrenal, and cervical paraganglioma; carotid body tumours and multiple extraadrenal Pheochromocytomas; carotid body tumors and multiple extraadrenal Pheochromocytomas; pheochromocytoma, familial extraadrenal; paragangliomas type 4; paragangliomas 4; paraganglioma caused by mutation in SDHB; SDHB paraganglioma
Definition Any paraganglioma in which the cause of the disease is a mutation in the SDHB 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
DISTCBTV: Paragangliomas 4
Disease Identifiers
MONDO ID
MONDO_0007273
MESH ID
C565335
UMLS CUI
C1861848
OMIM ID
115310
MedGen ID
349380

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 Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SDHB OTRE1M1T Definitive Autosomal dominant [2]
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References

1 Functional consequences of succinate dehydrogenase mutations.Endocr Pract. 2011 Jul-Aug;17 Suppl 3:64-71. doi: 10.4158/EP11070.RA.
2 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.