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: Sort by abundance 

1
(HPO:0008200) Primary hyperparathyroidism 5 / 7739
2
(OMIM) Water clear cell hyperplasia 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: