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.
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
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
Search interest in ATP2A2
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 United States.
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 United States.
ATP2A2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ATP2A2 gene.
More info about this panel Germany.
ATP2A2 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the ATP2A2 gene.
More info about this panel United States.
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 Spain.
Darier disease (sequence analysis of ATP2A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ATP2A2 gene.
More info about this panel Portugal.
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 Portugal.
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 Portugal.
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 Germany.
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 Germany.
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 Germany.
Single gene testing ATP2A2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ATP2A2 gene.
More info about this panel Germany.
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 Spain.
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 United States.
ATP2A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP2A2 gene.
More info about this panel United States.
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 United States.
Darier disease Panel
Spain.
By Bioarray
This panel specifically test the ATP2A2 gene.
More info about this panel Spain.
DARIER-WHITE DISEASE Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP2A2 gene.
More info about this panel Spain.
ACROKERATOSIS VERRUCIFORMIS OF HOPF Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP2A2 gene.
More info about this panel Spain.
Darier-White Disease, Sequencing ATP2A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the ATP2A2 gene.
More info about this panel Spain.
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 Spain.
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