Hypocalciuric Hypercalcemia, Familial, Type Iii; Hhc3

Genes related to Hypocalciuric Hypercalcemia, Familial, Type Iii; Hhc3

AP2S1

Clinical Features

Top most frequent phenotypes and symptoms related to Hypocalciuric Hypercalcemia, Familial, Type Iii; Hhc3

Muscle weakness
Milia
Renal insufficiency
Fatigue
Depressivity
Headache
Nephrolithiasis
Bone pain
Pancreatitis
Hypercalcemia

And another 12 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.

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Hypocalciuric Hypercalcemia, Familial, Type Iii; Hhc3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
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 Panel GTR000552069 complete gene list OCRL, HPRT1, CYP11B2, FAH, CYP24A1, AGXT, FAM20C, APRT, VDR, CDC73, CTNS, GRHPR, CASR, HSD11B2, AVPR2, AQP2, PHEX, SLC12A3, SCNN1A, SCNN1B, BSND, CLCNKB, KCNJ1, SLC12A1, FGF23, ATP6V1B1, GATA3, GNAS, NR3C2, KLHL3, SLC2A2, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, PTH, GCM2, ENPP1, CLCN5, SLC34A3, AVP, GALNT3, CUL3, WNK4, FAM20A, CLDN16, CLDN19, SLC22A12 Specificity 3 % Genes 100 %
Hypocalciuric hypercalcemia, familial, type III (sequence analysis of AP2S1 gene). By CGC Genetics in Portugal. AP2S1 Specificity 100 % Genes 100 %
Hypocalciuric hypercalcemia, familial, type III. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. AP2S1 Specificity 100 % Genes 100 %
Hypocalciuric hypercalcemia, familial, type III. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. AP2S1 Specificity 100 % Genes 100 %
Familial Hypocalciuric Hypercalcemia (FHH) via AP2S1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. AP2S1 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 Panel GTR000559186 complete gene list SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1 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 Panel GTR000559211 complete gene list SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1 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 Panel GTR000559218 complete gene list SLC34A1, OCRL, HPRT1, CYP24A1, SLC9A3R1, XDH, AGXT, CA2, SLC3A1, APRT, GRHPR, CASR, HNF4A, KCNJ1, SLC12A1, ATP6V1B1, GNA11, SLC4A1, ATP6V0A4, HOGA1, AP2S1, CLCN5, SLC34A3, FAM20A, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, ADCY10, SLC26A1 Specificity 4 % Genes 100 %
Hypocalciuric hypercalcemia, familial, type III. By Centogene AG - the Rare Disease Company in Germany. AP2S1 Specificity 100 % Genes 100 %
Single gene testing AP2S1. By CeGaT GmbH in Germany. AP2S1 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 %
Hypocalciuric hypercalcemia, familial, type III: AP2S1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. AP2S1 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 %
AP2S1. By Fulgent Genetics Fulgent Genetics in United States. AP2S1 Specificity 100 % 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 %
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 3. By Laboratorio de Genetica Clinica SL in Spain. AP2S1 Specificity 100 % Genes 100 %
Familial Hypocalciuric Hypercalcemia (FHH) Type 3 , Sequencing AP2S1 Gene. By Reference Laboratory Genetics in Spain. AP2S1 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 %

Alternate names

Hypocalciuric Hypercalcemia, Familial, Type Iii; Hhc3 Is also known as familial benign hypercalcemia, type iii;fbh3, hypercalcemia, familial benign, type iii, hypercalcemia, familial benign, oklahoma type;fhh type 3.

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