AP2S1 gene related symptoms and diseases
All the information presented here about the AP2S1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to AP2S1 gene
Symptoms // Phenotype | % Cases |
---|---|
Muscle weakness | Very Common - Between 80% and 100% cases |
Hypercalcemia | Very Common - Between 80% and 100% cases |
Hypermagnesemia | Very Common - Between 80% and 100% cases |
Multiple small medullary renal cysts | Very Common - Between 80% and 100% cases |
Hypocalciuria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with AP2S1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Peptic ulcer
- Primary hyperparathyroidism
- Chondrocalcinosis
- Osteomalacia
- Hyperparathyroidism
- Multiple lipomas
- Hypophosphatemia
- Pancreatitis
And 12 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to AP2S1 gene
Here you will find a list of rare diseases related to the AP2S1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3
Alternate names
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3 Is also known as familial benign hypercalcemia, type iii, fbh3, hypercalcemia, familial benign, type iii, fhh type 3, hypercalcemia, familial benign, oklahoma type
Most common symptoms of FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3
- Muscle weakness
- Pain
- Fatigue
- Behavioral abnormality
- Renal insufficiency
More info about FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3
Search interest in AP2S1
Potential gene panels for AP2S1 gene
Hyperparathyroidism Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Hyperparathyroidism Deletion/Duplication Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET
More info about this panelHyperparathyroidism Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hyperparathyroidism Sequencing Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET
More info about this panelExomePLUS Electrolyte & Kidney Stone Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panelHypocalciuric hypercalcemia, familial, type III (sequence analysis of AP2S1 gene) Panel
By CGC Genetics
This panel specifically test the AP2S1 gene.
More info about this panelHypocalciuric hypercalcemia, familial, type III Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the AP2S1 gene.
More info about this panelFamilial Hypocalciuric Hypercalcemia (FHH) via AP2S1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the AP2S1 gene.
More info about this panelHypoparathyroidism Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hypoparathyroidism Sequencing Panel with CNV Detection that also includes the following genes: SOX3 STX16 TBCE CASR FAM111A AIRE GATA3 GCM2 GNA11 GNAS
More info about this panelFamilial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection that also includes the following genes: CASR GNA11 AP2S1
More info about this panelNephrolithiasis and related disorders NGS panel Panel
By Connective Tissue Gene Tests Nephrolithiasis and related disorders NGS panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panelNephrolithiasis and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Comprehensive panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panelNephrolithiasis and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Nephrolithiasis and related disorders Deletion / Duplication panel that also includes the following genes: SLC12A1 SLC26A1 SLC34A1 SLC3A1 SLC7A9 SLC9A3R1 XDH SLC2A9 CA2 CASR
More info about this panelHypocalciuric hypercalcemia Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hypocalciuric hypercalcemia that also includes the following genes: CASR GNA11 AP2S1
More info about this panelHypocalciuric hypercalcemia, familial, type III Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the AP2S1 gene.
More info about this panelSingle gene testing AP2S1 Panel
By CeGaT GmbH
This panel specifically test the AP2S1 gene.
More info about this panelSkeletal dysplasia with abnormal mineralization Panel Panel
By CeGaT GmbH Skeletal dysplasia with abnormal mineralization Panel that also includes the following genes: SLC34A1 SLC9A3R1 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 CYP27B1 DMP1
More info about this panelHypocalciuric hypercalcemia, familial, type III: AP2S1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AP2S1 gene.
More info about this panelHypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis that also includes the following genes: CASR GNA11 AP2S1
More info about this panelAP2S1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AP2S1 gene.
More info about this panelHyperparathyroidism Panel Panel
By Blueprint Genetics Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C AIRE GCM2 GNA11 AP2S1
More info about this panelBartter Syndrome Panel Panel
By Blueprint Genetics Bartter Syndrome Panel that also includes the following genes: SLC12A1 SLC12A3 CASR BSND CLCNKA CLCNKB GNA11 AP2S1 KCNJ1
More info about this panelFAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 3 Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the AP2S1 gene.
More info about this panelFamilial Hypocalciuric Hypercalcemia (FHH) Type 3 , Sequencing AP2S1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the AP2S1 gene.
More info about this panelFamilial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes Panel
By Reference Laboratory Genetics Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes that also includes the following genes: CASR GNA11 AP2S1
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