PARAGANGLIOMAS 4

General Information (adopted from Orphanet):

Synonyms, Signs: PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL
PARAGANGLIOMA, FAMILIAL MALIGNANT
PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL
CAROTID BODY TUMORS AND MULTIPLE EXTRAADRENAL PHEOCHROMOCYTOMAS
PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA
PGL4
Number of Symptoms 19
OrphanetNr:
OMIM Id: 115310
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:0005584) Renal cell carcinoma 13 / 7739
2
(HPO:0008629) Pulsatile tinnitus 5 / 7739
3
(HPO:0002331) Recurrent paroxysmal headache 4 / 7739
4
(HPO:0006748) Adrenal pheochromocytoma 4 / 7739
5
(HPO:0003001) Glomus jugular tumor 5 / 7739
6
(HPO:0002668) Paraganglioma 7 / 7739
7
(HPO:0006737) Extraadrenal pheochromocytoma 4 / 7739
8
(HPO:0003006) Neuroblastoma 16 / 7739
9
(HPO:0002864) Paraganglioma of head and neck 4 / 7739
10
(HPO:0000740) Episodic paroxysmal anxiety 8 / 7739
11
(HPO:0100723) Gastrointestinal stroma tumor 7 / 7739
12
(HPO:0000975) Hyperhidrosis 64 / 7739
13
(HPO:0001962) Palpitations 62 / 7739
14
(HPO:0001649) Tachycardia 53 / 7739
15
(HPO:0000822) Hypertension 224 / 7739
16
(OMIM) Malignancy (34%) 1 / 7739
17
(OMIM) Multiple tumors in 28% of patients 1 / 7739
18
(OMIM) Increased urinary catecholamines 2 / 7739
19
(OMIM) Cranial nerve palsies can arise with head and neck paragangliomas 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bogdasarian and Lotz (1979) reported a family in which affected individuals had multiple catecholamine-secreting head and neck paragangliomas and retroperitoneal pheochromocytomas.

Glowniack et al. (1985) reported a family in which 3 individuals spanning 3 generations had ...

Genotype-Phenotype Correlations OMIM In a population-based genetic study of 334 unrelated patients with adrenal or extraadrenal pheochromocytomas and 83 patients with head and neck paragangliomas, Neumann et al. (2004) found that 12% of patients had a mutation in either the SDHB ...
Molecular genetics OMIM In affected members of 3 families with pheochromocytoma and paragangliomas, Astuti et al. (2001) identified a mutation in the SDHB gene (185470.0001). One of the families had been reported by Skoldberg et al. (1998). In the second family, ...
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 ...