PARAGANGLIOMAS 5

General Information (adopted from Orphanet):

Synonyms, Signs: PGL5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 614165
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002668) Paraganglioma 7 / 7739
2
(OMIM) Paraganglioma, catecholamine-secreting 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Burnichon et al. (2010) reported a 32-year-old woman who developed a catecholamine-secreting extraadrenal paraganglioma. Clinical features included hypertension and hyperadrenergic symptoms, such as dizziness, tachycardia, and sweating. She had high concentrations of urinary normetanephrine, norepinephrine, and chromogranin A. ...
Molecular genetics OMIM In a woman with an extraadrenal paraganglioma, Burnichon et al. (2010) identified a heterozygous germline mutation in the SDHA gene (R589W; 600857.0005). Tumor tissue showed loss of heterozygosity (LOH) at the SDHA locus. In vitro functional expression studies ...