Hypocalcemia, Autosomal Dominant 2; Hypoc2

Clinical Features

Top most frequent phenotypes and symptoms related to Hypocalcemia, Autosomal Dominant 2; Hypoc2

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Fatigue
  • Diabetes mellitus
  • Hypoglycemia
  • Postnatal growth retardation
  • Paresthesia
  • Muscle cramps

And another 11 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.

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.

Hypocalcemia, Autosomal Dominant 2; Hypoc2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

GNA11, GNAQ, BAP1
Specificity
34 %
Genes
100 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Hyperparathyroidism Deletion/Duplication Panel.

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

CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET
Specificity
13 %
Genes
100 %
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 %
Hyperparathyroidism Sequencing Panel.

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

CASR, CDC73, CDKN1B, GNA11, AP2S1, MEN1, PTH1R, RET
Specificity
13 %
Genes
100 %
GNA11.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GNA11
Specificity
100 %
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 %

You can get up to 53 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 Symptoms Checker

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