NEUROFIBROMATOSIS-PHEOCHROMOCYTOMA-DUODENAL CARCINOID SYNDROME
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
NPDC SYNDROME
DUODENAL CARCINOID SYNDROME
|
|
Number of Symptoms
|
6
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
162240
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0002666)
|
Pheochromocytoma |
|
|
|
|
9 / 7739
|
|
2
|
(HPO:0001067)
|
Neurofibromas |
|
|
|
|
7 / 7739
|
|
3
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
4
|
(OMIM)
|
Duodenal carcinoid tumor |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Obstructive jaundice |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |