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Familial Isolated Hyperparathyroidism

Go to external page http://purl.obolibrary.org/obo/NCIT_C94830

A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors. [ ]

Term info

Label

Familial Isolated Hyperparathyroidism

Synonyms
  • FIHP
  • Familial Isolated Hyperparathyroidism
  • familial isolated hyperparathyroidism
Subsets

NCIT_C90259, NCIT_C118467

ALT DEFINITION

Primary hyperparathyroidism of autosomal dominant or recessive inheritance, associated with mutation(s) in any of the following genes: MEN1 (encoding menin); CASR (extracellular calcium-sensing receptor); or CDC73 (parafibromin), although many cases have no identifiable mutation., A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid) and cause them to make too much parathyroid hormone. The increased parathyroid hormone causes a loss of calcium from the bones and too much calcium in the blood.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C48259

NCI META CUI

CL426666

NICHD Hierarchy Term

Familial Isolated Hyperparathyroidism

Preferred Name

Familial Isolated Hyperparathyroidism

Semantic Type

Disease or Syndrome

code

C94830