loading...| Preferred Name |
Familial hypocalciuric hypercalcemia |
|
| Synonyms |
Familial benign hypercalcemia |
|
| Definitions |
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_405 |
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| alternative_term |
Familial benign hypercalcemia FBHH FHH FBH Familial benign hypocalciuric hypercalcemia |
|
| definition |
Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 |
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| has_age_of_onset |
All ages |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
OMIM:600740 ICD-10:E83.5 ICD-11:5A51.2 OMIM:145980 OMIM:145981 UMLS:C1809471 |
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| label |
Familial hypocalciuric hypercalcemia |
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| notation |
ORPHA:405 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_264719 http://www.orpha.net/ORDO/Orphanet_68415 |
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| prefixIRI |
ORDO:Orphanet_405 |
|
| prefLabel |
Familial hypocalciuric hypercalcemia |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_264719 http://www.orpha.net/ORDO/Orphanet_68415 |
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| subClassOf |