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Hypoparathyroidism is decreased function of the parathyroid glands with underproduction of parathyroid hormone (PTH). This can lead to low levels of calcium in the blood, often causing cramping and twitching of muscles or tetany (involuntary muscle contraction), and several other symptoms. It is a very rare disease.
Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. [1] Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood).
Pseudopseudohypoparathyroidism (PPHP) is an inherited disorder, [1] named for its similarity to pseudohypoparathyroidism in presentation. It is more properly Albright hereditary osteodystrophy, although without resistance of parathyroid hormone (PTH), as frequently seen in that affliction.
5741 19226 Ensembl ENSG00000152266 ENSMUSG00000059077 UniProt P01270 Q9Z0L6 RefSeq (mRNA) NM_000315 NM_001316352 NM_020623 RefSeq (protein) NP_000306 NP_001303281 NP_065648 Location (UCSC) Chr 11: 13.49 – 13.5 Mb Chr 7: 112.98 – 112.99 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Parathyroid hormone (PTH), also called parathormone or parathyrin, is a peptide hormone secreted ...
In a healthy physiology, extracellular calcium levels are maintained within a tight range through the actions of parathyroid hormone, vitamin D and the calcium sensing receptor. [1] Disorders in calcium metabolism can lead to hypocalcemia, decreased plasma levels of calcium or hypercalcemia, elevated plasma calcium levels.
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Hyperparathyroidism is an increase in parathyroid hormone (PTH) levels in the blood. [1] [4] This occurs from a disorder either within the parathyroid glands (primary hyperparathyroidism) or as response to external stimuli (secondary hyperparathyroidism). [1]
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