ATP2A2 gene related symptoms and diseases

All the information presented here about the ATP2A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ATP2A2 gene

Symptoms // Phenotype % Cases
Acrokeratosis Very Common - Between 80% and 100% cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Ridged nail Very Common - Between 80% and 100% cases
Fractures of the long bones Uncommon - Between 30% and 50% cases
Aniridia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ATP2A2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Bipolar affective disorder
  • Fragile nails
  • Bone cyst
  • Intellectual disability
  • Palmar pits
  • Skin vesicle
  • Plantar pits
  • Enlargement of parotid gland

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ATP2A2 gene

Here you will find a list of rare diseases related to the ATP2A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DARIER DISEASE


Alternate names

DARIER DISEASE Is also known as keratosis follicularis, darier-white disease, dd, darier disease

Description

Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

Most common symptoms of DARIER DISEASE

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis


More info about DARIER DISEASE

SOURCES: OMIM ORPHANET

ACROKERATOSIS VERRUCIFORMIS OF HOPF


Alternate names

ACROKERATOSIS VERRUCIFORMIS OF HOPF Is also known as akv of hopf, hopf disease

Description

Acrokeratosis verruciformis of Hopf is a localized disorder of keratinization affecting the distal extremities. Onset occurs early in life (Dhitavat et al., 2003).

Most common symptoms of ACROKERATOSIS VERRUCIFORMIS OF HOPF

  • Hyperkeratosis
  • Epidermal acanthosis
  • Ridged nail
  • Subungual hyperkeratosis
  • Acrokeratosis


More info about ACROKERATOSIS VERRUCIFORMIS OF HOPF

SOURCES: OMIM ORPHANET


Potential gene panels for ATP2A2 gene

Epilepsy Advanced Sequencing and CNV Evaluation Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5

More info about this panel

Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders that also includes the following genes: SYNGAP1 TBX1 TSC1 TSC2 SETBP1 PANK2 ADGRV1 ATP6V0A2 MAGI2 VPS13A

More info about this panel

ATP2A2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the ATP2A2 gene.

More info about this panel

ATP2A2 Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the ATP2A2 gene.

More info about this panel

ATP2A2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the ATP2A2 gene.

More info about this panel

Darier disease (sequence analysis of ATP2A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP2A2 gene.

More info about this panel

Darier-White disease (deletion/duplication analysis on ATP2A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP2A2 gene.

More info about this panel

Darier-White disease (deletion/duplication analysis on ATP2A2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ATP2A2 gene.

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Single gene testing ATP2A2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ATP2A2 gene.

More info about this panel

Darier-White disease: ATP2A2 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the ATP2A2 gene.

More info about this panel

Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A

More info about this panel

ATP2A2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ATP2A2 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B

More info about this panel

Darier disease Panel

Spain.

By Bioarray

This panel specifically test the ATP2A2 gene.

More info about this panel

DARIER-WHITE DISEASE Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP2A2 gene.

More info about this panel

ACROKERATOSIS VERRUCIFORMIS OF HOPF Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ATP2A2 gene.

More info about this panel

Darier-White Disease, Sequencing ATP2A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP2A2 gene.

More info about this panel

Acrokeratosis Verruciformis of Hopf , Sequencing ATP2A2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ATP2A2 gene.

More info about this panel


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