HLA-A gene related symptoms and diseases
All the information presented here about the HLA-A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HLA-A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Photophobia | Very Common - Between 80% and 100% cases |
| Visual impairment | Very Common - Between 80% and 100% cases |
| Autoimmunity | Uncommon - Between 30% and 50% cases |
| Abnormal retinal morphology | Uncommon - Between 30% and 50% cases |
| Blurred vision | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HLA-A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Optic disc pallor
- Retinal detachment
- Nyctalopia
- Visual loss
- Attenuation of retinal blood vessels
- Blindness
- Cataract
- Dyspareunia
And 58 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HLA-A gene
Here you will find a list of rare diseases related to the HLA-A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
STEVENS-JOHNSON SYNDROME
Alternate names
STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type
Description
Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.
Most common symptoms of STEVENS-JOHNSON SYNDROME
- Anemia
- Visual impairment
- Fever
- Fatigue
- Dysphagia
More info about STEVENS-JOHNSON SYNDROME
BIRDSHOT CHORIORETINOPATHY
Alternate names
BIRDSHOT CHORIORETINOPATHY Is also known as birdshot retinochoroidopathy, birdshot retinochoroiditis, birdshot chorioretinitis, bscr, vitiliginous choroiditis
Description
Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia.
Most common symptoms of BIRDSHOT CHORIORETINOPATHY
- Cataract
- Visual impairment
- Blindness
- Visual loss
- Photophobia
More info about BIRDSHOT CHORIORETINOPATHY
Search interest in HLA-A
Potential gene panels for HLA-A gene
HLA-A*31:01 Panel
United States.
By Genelex
This panel specifically test the HLA-A gene.
More info about this panel United States.
GeneSight Psychotropic Panel
United States.
By Assurex Health, Inc. GeneSight Psychotropic that also includes the following genes: SLC6A4 UGT1A4 UGT2B15 CYP2B6 CYP2C19 CYP2C9 CYP2D6 CYP3A4 HLA-A HTR2A
More info about this panel United States.
OneOme RightMed comprehensive test Panel
United States.
By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19
More info about this panel United States.
Carbamazepine response Panel
India.
By Xcode Life Xcode Life Carbamazepine response that also includes the following genes: SCN2A HLA-A
More info about this panel India.
Tempus xT assay Panel
United States.
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ASMT COL1A2 TUBB8 ABHD12 HOXD13 SATB2 IL17F