PARAGANGLIOMAS 2

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMUS TUMORS, FAMILIAL, 2
PGL2
Number of Symptoms 15
OrphanetNr:
OMIM Id: 601650
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008629) Pulsatile tinnitus 5 / 7739
2
(HPO:0002886) Vagal paraganglioma 2 / 7739
3
(HPO:0006715) Glomus tympanicum paraganglioma 2 / 7739
4
(HPO:0002668) Paraganglioma 7 / 7739
5
(HPO:0003001) Glomus jugular tumor 5 / 7739
6
(HPO:0006824) Cranial nerve paralysis 81 / 7739
7
(HPO:0002864) Paraganglioma of head and neck 4 / 7739
8
(HPO:0001605) Vocal cord paralysis 13 / 7739
9
(HPO:0001686) Loss of voice 3 / 7739
10
(HPO:0001609) Hoarse voice 34 / 7739
11
(HPO:0030074) Chemodectoma 5 / 7739
12
(OMIM) Cranial nerve palsies can arise with head and neck paragangliomas 4 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Multiple tumors 2 / 7739
15
(HPO:0003581) Adult onset 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Baars (1980) and van Baars et al. (1981, 1981, 1982) reported a large Dutch family in which 26 persons had nonchromaffin paragangliomas of the head and neck. The disorder was inherited in an autosomal pattern spanning 6 ...
Molecular genetics OMIM In the large Dutch family with hereditary paragangliomas described by van Baars et al. (1982), Hao et al. (2009) found a missense mutation in the SDH5 gene on chromosome 11q13.1 encoding a change of a glycine at position ...
Population genetics OMIM Hensen et al. (2012) determined the mutation frequency of 4 succinate dehydrogenase genes in a total of 1,045 patients from 340 Dutch families with paraganglioma and pheochromocytoma. Mutations were identified in 690 cases from 239 families. The most ...