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.

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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

SOURCES: MESH OMIM ORPHANET

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

SOURCES: MESH OMIM ORPHANET


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

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

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

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

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

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


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