PARAGANGLIOMAS 3

General Information (adopted from Orphanet):

Synonyms, Signs: GLOMUS TUMORS, FAMILIAL, 3
PGL3
Number of Symptoms 28
OrphanetNr:
OMIM Id: 605373
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:0006737) Extraadrenal pheochromocytoma 4 / 7739
3
(HPO:0001605) Vocal cord paralysis 13 / 7739
4
(HPO:0003001) Glomus jugular tumor 5 / 7739
5
(HPO:0000740) Episodic paroxysmal anxiety 8 / 7739
6
(HPO:0006748) Adrenal pheochromocytoma 4 / 7739
7
(HPO:0002864) Paraganglioma of head and neck 4 / 7739
8
(HPO:0002331) Recurrent paroxysmal headache 4 / 7739
9
(HPO:0002668) Paraganglioma 7 / 7739
10
(HPO:0006824) Cranial nerve paralysis 81 / 7739
11
(HPO:0003334) Elevated circulating catecholamine level 2 / 7739
12
(HPO:0000975) Hyperhidrosis 64 / 7739
13
(HPO:0000975) Hyperhidrosis 64 / 7739
14
(HPO:0001649) Tachycardia 53 / 7739
15
(HPO:0001962) Palpitations 62 / 7739
16
(HPO:0001649) Tachycardia 53 / 7739
17
(HPO:0000822) Hypertension 224 / 7739
18
(HPO:0001962) Palpitations 62 / 7739
19
(HPO:0002640) Hypertension associated with pheochromocytoma 3 / 7739
20
(HPO:0001686) Loss of voice 3 / 7739
21
(HPO:0001609) Hoarse voice 34 / 7739
22
(OMIM) Elevated catecholamines (in patients with pheochromocytoma) 2 / 7739
23
(OMIM) Rarely malignant 1 / 7739
24
(HPO:0003581) Adult onset 117 / 7739
25
(OMIM) Cranial nerve palsies can arise with head and neck paragangliomas 4 / 7739
26
(HPO:0030074) Chemodectoma 5 / 7739
27
(OMIM) Multiple tumors 2 / 7739
28
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of a family with PGL3, Niemann and Muller (2000) identified a heterozygous mutation in the SDHC gene (602413.0001).

Baysal et al. (2004) described a family with PGL3 in which an 8,372-bp deletion in ...

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 ...