Hypoparathyroidism, Familial Isolated; Fih

Description

Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH ) 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.Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, {188400}) is usually a sporadic condition (Taitz et al., 1966).

Clinical Features

Top most frequent phenotypes and symptoms related to Hypoparathyroidism, Familial Isolated; Fih

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cataract
  • Myopathy
  • Abnormality of the dentition
  • Arrhythmia
  • Alopecia

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Hypoparathyroidism, Familial Isolated; Fih Is also known as hypoparathyroidism, autosomal dominant.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Hypoparathyroidism, Familial Isolated; Fih Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

STX16, TBCE, TBX1, CASR, CHD7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH
Specificity
12 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago (United States).

STX16, TBCE, TBX1, CASR, CDH7, FAM111A, CYP24A1, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, PDE4D, PRKAR1A, PTH
Specificity
12 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
100 %
GCM2-Related Familial Isolated Hypoparathyroidism.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

GCM2
Specificity
100 %
Genes
50 %
Hypoparathyroidism (sequence analysis of GCM2 gene).

By CGC Genetics (Portugal).

GCM2
Specificity
100 %
Genes
50 %
GCM2-Related Familial Isolated Hypoparathyroidism.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).

GCM2
Specificity
100 %
Genes
50 %
Familial Isolated Hypoparathyroidism via GCM2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GCM2
Specificity
100 %
Genes
50 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SOX3, STX16, TBCE, CASR, FAM111A, AIRE, GATA3, GCM2, GNA11, GNAS, HADHA, HADHB, AP2S1, PTH, PTH1R
Specificity
14 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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