Hypoparathyroidism, Familial Isolated, 1

Alternative Names

  • FIH1

Associated Genes

Parathyroid Hormone
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

146200

Mode of Inheritance

Autosomal dominant Autosomal recessive

Gene Map Locus

11p15.3

Description

Hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Familial isolated hypoparathyroidism-1 (FIH1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the parathyroid hormone gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
146200.1United Arab EmiratesMaleYesYes Intellectual disability; Hypoparathyroid...NM_000315.3:c.128G>AHomozygousAutosomal, RecessiveSaleh et al. 2021 Similarly affected b...
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