PHEOCHROMOCYTOMAPHEOCHROMOCYTOMA, SUSCEPTIBILITY TO

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr:
OMIM Id: 171300
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:0003345) Elevated urinary norepinephrine 2 / 7739
2
(HPO:0001920) Renal artery stenosis 5 / 7739
3
(HPO:0000093) Proteinuria 169 / 7739
4
(HPO:0001095) Hypertensive retinopathy 3 / 7739
5
(HPO:0000519) Congenital cataract 73 / 7739
6
(HPO:0002666) Pheochromocytoma 9 / 7739
7
(HPO:0000975) Hyperhidrosis 64 / 7739
8
(HPO:0001028) Hemangioma 23 / 7739
9
(HPO:0000957) Cafe-au-lait spot 84 / 7739
10
(HPO:0001649) Tachycardia 53 / 7739
11
(HPO:0003574) Positive regitine blocking test 2 / 7739
12
(HPO:0000875) Episodic hypertension 3 / 7739
13
(HPO:0001635) Congestive heart failure 232 / 7739
14
(HPO:0001342) Cerebral hemorrhage 24 / 7739
15
(HPO:0003072) Hypercalcemia 36 / 7739
16
(HPO:0002664) Neoplasm 111 / 7739
17
(OMIM) Positive Regitine test 2 / 7739
18
(OMIM) Adrenal medullary tumor 1 / 7739
19
(OMIM) Retinal angiomatosis 1 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, ...
Clinical Description OMIM Familial pheochromocytoma was first reported by Calkins and Howard (1947).

Hadorn (1963) reported a German family in which 3 sibs had adrenal tumors consistent with pheochromocytomas. A brother and sister suffered from tachycardia, sweating, hypertension, and ...

Molecular genetics OMIM Neumann et al. (2001) stated that germline mutations in the VHL gene and in the SDHD gene together account for 15 to 20% of all nonfamilial presentations of pheochromocytoma. Neumann et al. (2002) identified germline mutations in 66 ...