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.

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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

SOURCES: OMIM MESH ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

Single gene testing AP2S1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the AP2S1 gene.

More info about this panel

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

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

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

AP2S1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AP2S1 gene.

More info about this panel

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

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

FAMILIAL HYPOCALCIURIC HYPERCALCEMIATYPE 3 Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the AP2S1 gene.

More info about this panel

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

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


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