PHEOCHROMOCYTOMA--ISLET CELL TUMOR SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 16
OrphanetNr:
OMIM Id: 171420
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:0000093) Proteinuria 169 / 7739
2
 (HPO:0003345) Elevated urinary norepinephrine 2 / 7739
3
 (HPO:0001095) Hypertensive retinopathy 3 / 7739
4
 (HPO:0002666) Pheochromocytoma 9 / 7739
5
 (HPO:0000997) Axillary freckling 9 / 7739
6
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
7
 (HPO:0000975) Hyperhidrosis 64 / 7739
8
 (HPO:0001342) Cerebral hemorrhage 24 / 7739
9
 (HPO:0001635) Congestive heart failure 232 / 7739
10
 (HPO:0000875) Episodic hypertension 3 / 7739
11
 (HPO:0003574) Positive regitine blocking test 2 / 7739
12
 (HPO:0001649) Tachycardia 53 / 7739
13
 (HPO:0003072) Hypercalcemia 36 / 7739
14
 (OMIM) Positive Regitine test 2 / 7739
15
 (OMIM) Islet cell tumor 1 / 7739
16
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: