Familial isolated pituitary adenoma
General Information (adopted from Orphanet):
Synonyms, Signs: |
FIPA |
Number of Symptoms | 14 |
OrphanetNr: | 314777 |
OMIM Id: |
102200
600634 |
ICD-10: |
D35.2 |
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Pituitary adenoma
-Rare endocrine disease -Rare genetic disease -Rare oncologic disease |
Symptom Information:
|
(HPO:0000858) | Menstrual irregularities | 42 / 7739 | ||||
|
(HPO:0000280) | Coarse facial features | 189 / 7739 | ||||
|
(HPO:0100829) | Galactorrhea | 7 / 7739 | ||||
|
(HPO:0006767) | Pituitary prolactin cell adenoma | 3 / 7739 | ||||
|
(HPO:0002893) | Pituitary adenoma | 16 / 7739 | ||||
|
(HPO:0000870) | Prolactin excess | 10 / 7739 | ||||
|
(HPO:0000845) | Growth hormone excess | 18 / 7739 | ||||
|
(HPO:0011760) | Pituitary growth hormone cell adenoma | 1 / 7739 | ||||
|
(HPO:0000822) | Hypertension | 224 / 7739 | ||||
|
(HPO:0001638) | Cardiomyopathy | 192 / 7739 | ||||
|
(HPO:0001712) | Left ventricular hypertrophy | 76 / 7739 | ||||
|
(HPO:0001428) | Somatic mutation | 100 / 7739 | ||||
|
(HPO:0030269) | Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} | 2 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|