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
United States.
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 panel United States.
Hyperparathyroidism Sequencing Panel Panel
United States.
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 panel United States.
ExomePLUS Electrolyte & Kidney Stone Panel
United States.
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 panel United States.
Hypocalciuric hypercalcemia, familial, type III (sequence analysis of AP2S1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the AP2S1 gene.
More info about this panel Portugal.
Hypocalciuric hypercalcemia, familial, type III Panel
Germany.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the AP2S1 gene.
More info about this panel Germany.
Familial Hypocalciuric Hypercalcemia (FHH) via AP2S1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the AP2S1 gene.
More info about this panel United States.
Hypoparathyroidism Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Familial Hypocalciuric Hypercalcemia (FHH) Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Nephrolithiasis and related disorders NGS panel Panel
United States.
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 panel United States.
Nephrolithiasis and related disorders Comprehensive panel Panel
United States.
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 panel United States.
Nephrolithiasis and related disorders Deletion / Duplication panel Panel
United States.
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 panel United States.
Hypocalciuric hypercalcemia Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hypocalciuric hypercalcemia that also includes the following genes: CASR GNA11 AP2S1
More info about this panel Germany.
Hypocalciuric hypercalcemia, familial, type III Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the AP2S1 gene.
More info about this panel Germany.
Single gene testing AP2S1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the AP2S1 gene.
More info about this panel Germany.
Skeletal dysplasia with abnormal mineralization Panel Panel
Germany.
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 panel Germany.
Hypocalciuric hypercalcemia, familial, type III: AP2S1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the AP2S1 gene.
More info about this panel Spain.
Hypocalciuric hypercalcemia: CASR, GNA11, and AP2S1 genes sequence analysis Panel
Spain.
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 panel Spain.
AP2S1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AP2S1 gene.
More info about this panel United States.
Hyperparathyroidism Panel Panel
Finland.
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 panel Finland.
Bartter Syndrome Panel Panel
Finland.
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 panel Finland.
FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 3 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the AP2S1 gene.
More info about this panel Spain.
Familial Hypocalciuric Hypercalcemia (FHH) Type 3 , Sequencing AP2S1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the AP2S1 gene.
More info about this panel Spain.
Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes Panel
Spain.
By Reference Laboratory Genetics Familial Hypocalciuric Hypercalcemia (FHH) , Panel Massive Sequencing AP2S1, CASR, GNA11 Genes that also includes the following genes: CASR GNA11 AP2S1
More info about this panel Spain.
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