Disease or Syndrome
pseudohypoparathyroidism
Subclass of:
Metal Metabolism, Inborn Errors;
Calcium Metabolism Disorders;
Metabolic Bone Disorder
Definitions related to pseudohypoparathyroidism:
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A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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A condition characterized by the insensitivity of the tissues to respond to the activity of the parathyroid hormone. It results in increased levels of parathyroid hormone in the serum, hypocalcemia, and hyperphosphatemia.NCI ThesaurusU.S. National Cancer Institute, 2021
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A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Disorders of GNAS inactivation include the phenotypes pseudohypoparathyroidism Ia, Ib, and Ic (PHP-Ia, -Ib, -Ic), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). PHP-Ia and PHP-Ic are characterized by: End-organ resistance to endocrine hormones including parathyroid hormone (PTH), thyroid-stimulating hormone (TSH), gonadotropins (LH and FSH), growth hormone-releasing hormone (GHRH), and CNS neurotransmitters (leading to obesity and variable degrees of intellectual disability and developmental delay); and The Albright hereditary osteodystrophy (AHO) phenotype (short stature, round facies, and subcutaneous ossifications) and brachydactyly type E (shortening mainly of the 4th and/or 5th metacarpals and metatarsals and distal phalanx of the thumb). Although PHP-Ib is characterized principally by PTH resistance, some individuals also have partial TSH resistance and mild features of AHO (e.g., brachydactyly). PPHP, a more limited form of PHP-Ia, is characterized by various manifestations of the AHO phenotype without the hormone resistance or obesity. POH and OC are even more restricted variants of PPHP: POH consists of dermal ossification beginning in infancy, followed by increasing and extensive bone formation in deep muscle and fascia. OC consists of extra-skeletal ossification that is limited to the dermis and subcutaneous tissues.GeneReviewsUniversity of Washington, 2021
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Hereditary condition clinically resembling hypoparathyroidism, but caused by failure of response to rather than deficiency of parathyroid hormones; characterized by hypocalcemia and hyperphosphatemia, and commonly associated with short stature, obesity, short metacarpals, and ectopic calcification.CRISP ThesaurusNational Institutes of Health, 2006
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Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. (See Pathophysiology, Presentation, and Workup.WebMD, 2019
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Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able...National Center for Advancing Translational Sciences
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Pseudohypoparathyroidism (PHP) results from an insensitivity of target tissues to the biologic actions of parathyroid hormone (PTH). It is caused by genetic mutations in the PTH signaling pathway. The disease manifests clinically with hypocalcemia, high PTH levels, and hyperphosphatemia. The disease may be symptomatic or asymptomatic....Athenahealth, Inc., 2019
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