Familial Isolated Hyperparathyroidism

Clinical Features

Top most frequent phenotypes and symptoms related to Familial Isolated Hyperparathyroidism

  • Renal insufficiency
  • Osteopenia
  • Nephrocalcinosis
  • Hypercalciuria
  • Hypercalcemia
  • Hypophosphatemia
  • Chondrocalcinosis
  • Elevated circulating parathyroid hormone level
  • Generalized osteoporosis
  • Hyperphosphaturia

And another 4 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Familial Isolated Hyperparathyroidism Is also known as fihpt.

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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Familial Isolated Hyperparathyroidism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Endocrine Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

SDHA, SDHB, SDHC, SDHD, TP53, VHL, CDC73, SDHAF2, TMEM127, MAX, MEN1, PRKAR1A, PTEN, RET
Specificity
15 %
Genes
67 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
4 %
Genes
67 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
5 %
Genes
67 %
VistaSeq Endrocrine Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SDHB, SDHC, SDHD, TP53, VHL, CDC73, TMEM127, MAX, MEN1, NF1, PRKAR1A, PTEN, RET
Specificity
16 %
Genes
67 %
Renal Cystic Disorders Sequencing Panel.

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

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
34 %
Hyperparathyroidism Deletion/Duplication Panel.

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

CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET
Specificity
25 %
Genes
67 %
Hyperparathyroidism Sequencing Panel.

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

CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET
Specificity
25 %
Genes
67 %
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
67 %

We have 185 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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