ATP2C1 gene related symptoms and diseases
All the information presented here about the ATP2C1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ATP2C1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Acantholysis | Very Common - Between 80% and 100% cases |
| Osteoporosis | Very Common - Between 80% and 100% cases |
| Hypogonadism | Very Common - Between 80% and 100% cases |
| Hyperkeratosis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ATP2C1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Erythema
- Skin rash
- Hypopigmentation of the skin
- Cutaneous photosensitivity
- Diarrhea
- Telangiectasia
- Short stature
- Concave nasal ridge
And 92 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ATP2C1 gene
Here you will find a list of rare diseases related to the ATP2C1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FAMILIAL BENIGN CHRONIC PEMPHIGUS
Alternate names
FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract, hailey-hailey disease, benign chronic familial pemphigus of hailey-hailey
Description
Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).
Most common symptoms of FAMILIAL BENIGN CHRONIC PEMPHIGUS
- Intellectual disability
- Short stature
- Hearing impairment
- Growth delay
- Neoplasm
BENIGN CHRONIC PEMPHIGUS; BCPM
Alternate names
BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd, hailey-hailey disease, pemphigus, benign familial
Description
Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).
Most common symptoms of BENIGN CHRONIC PEMPHIGUS; BCPM
- Intellectual disability
- Short stature
- Growth delay
- Neoplasm
- Pain
SOURCES: OMIM
Search interest in ATP2C1
Potential gene panels for ATP2C1 gene
ATP2C1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ATP2C1 gene.
More info about this panelATP2C1 Gene Sequencing Panel
By GeneDx
This panel specifically test the ATP2C1 gene.
More info about this panelBenign chronic pemphigus Comprehensive Test Panel
By Connective Tissue Gene Tests
This panel specifically test the ATP2C1 gene.
More info about this panelBenign chronic pemphigus NGS Test Panel
By Connective Tissue Gene Tests
This panel specifically test the ATP2C1 gene.
More info about this panelBenign chronic pemphigus Deletion / Duplication Test Panel
By Connective Tissue Gene Tests
This panel specifically test the ATP2C1 gene.
More info about this panelIchthyoses and related disorders of cornification Panel Panel
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 panelSingle gene testing ATP2C1 Panel
By CeGaT GmbH
This panel specifically test the ATP2C1 gene.
More info about this panelHailey–Hailey disease Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ATP2C1 gene.
More info about this panelHailey–Hailey disease Panel
By MedGene
This panel specifically test the ATP2C1 gene.
More info about this panelHailey-Hailey disease: ATP2C1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ATP2C1 gene.
More info about this panelATP2C1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ATP2C1 gene.
More info about this panelEpidermolysis Bullosa Panel Panel
By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1
More info about this panelHailey-Hailey disease Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the ATP2C1 gene.
More info about this panelFamilial Benign Chronic Pemphigus (Hayley-Hayley Disease) , Sequencing ATP2C1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ATP2C1 gene.
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