Hyperparathyroidism 4; Hrpt4

Clinical Features

Phenotypes and symptoms related to Hyperparathyroidism 4; Hrpt4

  • Neoplasm
  • Osteopenia
  • Carcinoma
  • Nephrolithiasis
  • Breast carcinoma
  • Hypercalcemia
  • Hyperparathyroidism
  • Primary hyperparathyroidism
  • Parathyroid carcinoma

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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.

Hyperparathyroidism 4; Hrpt4 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
6 %
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
6 %
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
3 %
Genes
100 %
GCM2-Related Familial Isolated Hypoparathyroidism.

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

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

By CGC Genetics (Portugal).

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

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

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

By PreventionGenetics PreventionGenetics (United States).

GCM2
Specificity
100 %
Genes
100 %
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
7 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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