Primary parathyroids hyperplasia
General Information (adopted from Orphanet):
Synonyms, Signs: |
Familial parathyroids hyperplasia Hereditary parathyroids hyperplasia |
Number of Symptoms | 3 |
OrphanetNr: | 99878 |
OMIM Id: |
600166
|
ICD-10: |
E21.0 |
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: |
Familial primary hyperparathyroidism
-Rare endocrine disease -Rare genetic disease -Rare oncologic disease |
Symptom Information:
|
(HPO:0008200) | Primary hyperparathyroidism | 5 / 7739 | ||||
|
(OMIM) | Water clear cell hyperplasia | 1 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|