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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Pseudohypoparathyroidism
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Metal Metabolism, Inborn Errors > Pseudohypoparathyroidism
Nutritional and Metabolic Diseases > Metabolic Diseases > Calcium Metabolism Disorders > Pseudohypoparathyroidism
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Metabolic > Pseudohypoparathyroidism
Nutritional and Metabolic Diseases > Metabolic Diseases > Bone Diseases, Metabolic > Pseudohypoparathyroidism

Terme préférentiel

Pseudohypoparathyroidism  

Type

  • mesh:Descriptor

Définition

  • 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. A syndrome characterized by variable features such as short stature, obesity, round face, subcutaneous ossifications, and BRACHYDACTYLY. It is associated with resistance to PARATHYROID HORMONE and THYROTROPIN. The autosomal dominant inherited form (PSEUDOHYPOPARATHYROIDISM, TYPE IA) is caused by mutations in the GNAS gene. OMIM: 103580.

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URI

http://data.loterre.fr/ark:/67375/JVR-SDRLCN8T-N

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 27/05/2020