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GTR Home > Conditions/Phenotypes > Hypoparathyroidism, familial isolated, 2

Hypoparathyroidism, familial isolated, 2

Summary

Patients with familial isolated hypoparathyroidism-2 (FIH2) usually present with seizures, caused by hypocalcemia, in early life. Serum parathyroid hormone (PTH; 168450) levels are low to undetectable. Hyperphosphatemia is present, and levels of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D may be within the normal range. Development can be normal if hypocalcemia is treated with calcium and vitamin D supplementation (Ding et al., 2001). Some patients have been found to lack parathyroid glands (Thomee et al., 2005). For a discussion of genetic heterogeneity of familial isolated hypoparathyroidism, see FIH1 (146200). [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FIH2, GCMB, HRPT4, hGCMb, GCM2
    Summary: glial cells missing transcription factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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