PARAGANGLIOMAS 1

General Information (adopted from Orphanet):

Synonyms, Signs: PARAGANGLIOMA, CAROTID BODY
CAROTID BODY TUMORS
PARAGANGLIOMATA
PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1 PARAGANGLIOMAS WITH SENSORINEURAL HEARING LOSS, INCLUDED
PARAGANGLIOMAS, FAMILIAL, 1
CHEMODECTOMAS
GLOMUS TUMORS, FAMILIAL, 1
GLOMUS JUGULARE TUMORS
PGL1
CBT1
PGL
Number of Symptoms 32
OrphanetNr:
OMIM Id: 168000
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:0008513) Bilateral conductive hearing impairment 11 / 7739
2
(HPO:0008629) Pulsatile tinnitus 5 / 7739
3
(HPO:0000405) Conductive hearing impairment 164 / 7739
4
(HPO:0008591) Congenital conductive hearing impairment 8 / 7739
5
(HPO:0002864) Paraganglioma of head and neck 4 / 7739
6
(HPO:0001605) Vocal cord paralysis 13 / 7739
7
(HPO:0006824) Cranial nerve paralysis 81 / 7739
8
(HPO:0003001) Glomus jugular tumor 5 / 7739
9
(HPO:0002668) Paraganglioma 7 / 7739
10
(HPO:0000740) Episodic paroxysmal anxiety 8 / 7739
11
(HPO:0006737) Extraadrenal pheochromocytoma 4 / 7739
12
(HPO:0002331) Recurrent paroxysmal headache 4 / 7739
13
(HPO:0006715) Glomus tympanicum paraganglioma 2 / 7739
14
(HPO:0006748) Adrenal pheochromocytoma 4 / 7739
15
(HPO:0002886) Vagal paraganglioma 2 / 7739
16
(HPO:0003334) Elevated circulating catecholamine level 2 / 7739
17
(HPO:0000975) Hyperhidrosis 64 / 7739
18
(HPO:0000975) Hyperhidrosis 64 / 7739
19
(HPO:0000822) Hypertension 224 / 7739
20
(HPO:0001962) Palpitations 62 / 7739
21
(HPO:0001649) Tachycardia 53 / 7739
22
(HPO:0001962) Palpitations 62 / 7739
23
(HPO:0001649) Tachycardia 53 / 7739
24
(HPO:0002640) Hypertension associated with pheochromocytoma 3 / 7739
25
(HPO:0001686) Loss of voice 3 / 7739
26
(HPO:0001609) Hoarse voice 34 / 7739
27
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
(HPO:0003581) Adult onset 117 / 7739
29
(OMIM) Multiple tumors in 74% of patients 1 / 7739
30
(OMIM) Elevated catecholamines (in patients with pheochromocytoma) 2 / 7739
31
(OMIM) Cranial nerve palsies can arise with head and neck paragangliomas 4 / 7739
32
(HPO:0030074) Chemodectoma 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., ...
Clinical Description OMIM Kroll et al. (1964) found carotid body tumors in 12 members of a family in an autosomal dominant pattern of inheritance. Resler et al. (1966) reported a patient with bilateral carotid body tumors and a glomus jugulare tumor. ...
Genotype-Phenotype Correlations OMIM In a review of several studies, Baysal et al. (2002) found that 83 cases of paragangliomas-1 in 'unrelated' families and patients were attributable to 3 founder populations in the Netherlands, in stark contrast to 25 distinct SDHD mutations ...
Molecular genetics OMIM Astrom et al. (2003) stated that a large number of PGL1 families had been reported from the Netherlands and that there may be Dutch founder mutations.

In affected members of families with hereditary paraganglioma, Baysal et ...

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 ...