Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Name: |
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
|
Description: |
A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.
|
ORPHAcode: |
306661
|
Synonyms: |
Hypercalcemic tumoral calcinosis
|
XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
|
Changed: |
22 Jun 2023 - 16:14
|