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GTR Home > Conditions/Phenotypes > Neonatal severe primary hyperparathyroidism

Neonatal severe primary hyperparathyroidism

Synonyms
Neonatal severe hyperparathyroidism
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Neonatal severe hyperparathyroidism usually manifests in the first 6 months of life with severe hypercalcemia, bone demineralization, and failure to thrive. Early diagnosis is critical because untreated NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. Some infants have milder hyperparathyroidism and a substantially milder clinical presentation and natural history (summary by Egbuna and Brown, 2008). [from OMIM]

Available tests

58 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAR, EIG8, FHH, FIH, GPRC2A, HHC, HHC1, HYPOC1, NSHPT, PCAR1, hCasR, CASR
    Summary: calcium sensing receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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