Hypocalciuric Hypercalcemia, Familial, Type Ii; Hhc2

Clinical Features

Phenotypes and symptoms related to Hypocalciuric Hypercalcemia, Familial, Type Ii; Hhc2

  • Nephrolithiasis
  • Pancreatitis
  • Hypercalcemia
  • Multiple lipomas
  • Chondrocalcinosis
  • Primary hyperparathyroidism
  • Peptic ulcer
  • Hypocalciuria
  • Hypermagnesemia
  • Parathormone-independent increased renal tubular calcium reabsorption

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Hypocalciuric Hypercalcemia, Familial, Type Ii; Hhc2 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 in United States.

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

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

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

By Genetic Services Laboratory University of Chicago in United States.

RET, MEN1, CDC73, CASR, PTH1R, CDKN1B, GNA11, AP2S1
Specificity
13 %
Genes
100 %
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
6 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
6 %
Genes
100 %
Hyperparathyroidism Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

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

By Institute for Human Genetics University Clinic Freiburg in Germany.

GNA11
Specificity
100 %
Genes
100 %
ExomePLUS Electrolyte & Kidney Stone.

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

OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Familial hypocalciuric hypercalcemia type 2 (sequence analysis of GNA11 gene).

By CGC Genetics in Portugal.

GNA11
Specificity
100 %
Genes
100 %
Uveal Melanoma Genetic Prognostic Test.

By Impact Genetics Impact Genetics in Canada.

GNAQ, GNA11
Specificity
50 %
Genes
100 %
Hypercalcemic and Hypocalcemic Disorders via the GNA11 Gene.

By PreventionGenetics PreventionGenetics in United States.

GNA11
Specificity
100 %
Genes
100 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB, AIRE, CASR, GATA3, PTH1R, SOX3, GNAS, GNA11, AP2S1, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
7 %
Genes
100 %
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASR, GNA11, AP2S1
Specificity
34 %
Genes
100 %
Nephrolithiasis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Nephrolithiasis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Bartter syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, MAGED2
Specificity
12 %
Genes
100 %
Bartter syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, MAGED2
Specificity
12 %
Genes
100 %
Bartter syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, MAGED2
Specificity
12 %
Genes
100 %
Custom solid tumor gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

APC, PTEN, TP53, FOXL2, TYRP1, RET, RAF1, BRAF, HRAS, KRAS, MAP2K1, NRAS, CDK4, CDKN2A, MET, NF1, GRIN2A, HGF, ERCC2, CTNNB1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Melanoma, somatic mutation sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

BRAF, NRAS, KIT, GNAQ, GNA11
Specificity
20 %
Genes
100 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company in Germany.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, GNAT2, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company in Germany.

VHL, APC, MLH1, PTEN, TP53, RB1, RET, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, TSC1, ALK, ATM , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Hypocalcemia, autosomal dominant 2.

By Centogene AG - the Rare Disease Company in Germany.

GNA11
Specificity
100 %
Genes
100 %
Bartter Syndrome Panel.

By CeGaT GmbH in Germany.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11
Specificity
13 %
Genes
100 %
Single gene testing GNA11.

By CeGaT GmbH in Germany.

GNA11
Specificity
100 %
Genes
100 %
Skeletal dysplasia with abnormal mineralization Panel.

By CeGaT GmbH in Germany.

ALPL, ANKH, SLC34A1, SLC9A3R1, CYP27B1, VDR, CASR, PHEX, FGF23, GNA11, AP2S1, ENPP1, CYP2R1, CLCN5, SLC34A3, DMP1
Specificity
7 %
Genes
100 %
Hypercalcemia (FHH), Familial hypocalciuric: GNA11 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GNA11
Specificity
100 %
Genes
100 %
Hypocalcemia autosomal dominant 2: GNA11 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

GNA11
Specificity
100 %
Genes
100 %
Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

CASR, GNA11, AP2S1
Specificity
34 %
Genes
100 %
Hyperparathyroidism Panel.

By Blueprint Genetics in Finland.

RET, MEN1, AIRE, CDC73, CASR, CDKN1B, GNA11, AP2S1, PTH, GCM2, CDKN2B, CDKN2C, CDKN1A
Specificity
8 %
Genes
100 %
Bartter Syndrome Panel.

By Blueprint Genetics in Finland.

CASR, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, CLCNKA, GNA11, AP2S1
Specificity
12 %
Genes
100 %
Nephrolithiasis Panel.

By Blueprint Genetics in Finland.

ALPL, SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, MOCS1, SLC3A1, APRT, VDR, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, CTNNB1, MTOR, ERBB3, KIT, JAK3 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Somatic Overgrowth Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PTEN, IDH2, TSC2, TSC1, RASA1, MTOR, PIK3CA, AKT2, GNAQ, IDH1, GNA11, PIK3R2, AKT3, AKT1, SMO
Specificity
7 %
Genes
100 %
Nevus Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

FGFR3, HRAS, KRAS, NRAS, PIK3CA, GNAQ, GNA11
Specificity
15 %
Genes
100 %
Melanoma Gene Set.

By Genomics and Pathology Services Washington University in St. Louis in United States.

PTEN, TP53, RB1, RET, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, CDKN2A, MET, NF1, FGFR1, KMT2D, MED12 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
100 %
Guardant360.

By Guardant Health in United States.

BRCA1, BRCA2, VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Comprehensive Panel for Individualized Cancer Threatment.

By GeneKor MSA in Greece.

VHL, APC, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, CDKN2A , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Cancer Hotspot Analysis.

By Advanced Technology Laboratory Spectrum Health in United States.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, IDH2, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Circulo Melanoma.

By Circulogene Theranostics in United States.

GNA11
Specificity
100 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
OmniSeq Comprehensive.

By OmniSeq, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MLH1, PTEN, TP53, FOXL2, HNF1A, PPARG, WT1, RB1, RET, RAF1, IDH2, SOX2, STAT3, PNP, FGFR3 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
HYPOCALCEMIA (AUTOSOMAL DOMINANT).

By Laboratorio de Genetica Clinica SL in Spain.

CASR, GNA11
Specificity
50 %
Genes
100 %
HYPOPARATHYROIDISM.

By Laboratorio de Genetica Clinica SL in Spain.

CASR, GNA11, PTH, GCM2
Specificity
25 %
Genes
100 %
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 2.

By Laboratorio de Genetica Clinica SL in Spain.

GNA11
Specificity
100 %
Genes
100 %
Solid Tumor Targeted Mutation and Fusion Panel.

By Providence Regional Laboratories Providence Health and Services in United States.

PPARG, RET, RAF1, IDH2, FGFR3, AR, BRAF, HRAS, KRAS, MAP2K1, NRAS, FGFR2, MAP2K2, ALK, CDK4, MET, NTRK1, FGFR1, CTNNB1, MTOR , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
100 %
Autosomal Dominant Hypocalcemia Type 2 , Sequencing GNA11 Gene.

By Reference Laboratory Genetics in Spain.

GNA11
Specificity
100 %
Genes
100 %
Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes.

By Reference Laboratory Genetics in Spain.

CASR, GNA11, AP2S1
Specificity
34 %
Genes
100 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
100 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

VHL, APC, MLH1, PTEN, TP53, HNF1A, RB1, RET, FGFR3, BRAF, HRAS, KRAS, NRAS, PTPN11, FGFR2, ALK, ATM, CDH1, STK11, CDKN2A , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %

Alternate names

Hypocalciuric Hypercalcemia, Familial, Type Ii; Hhc2 Is also known as familial benign hypercalcemia, type ii;fbh2, hypercalcemia, familial benign, type ii;fhh type 2.



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