HLA-B gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HLA-B gene

Symptoms // Phenotype % Cases
Fever Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Myocardial infarction Common - Between 50% and 80% cases
Arthritis Common - Between 50% and 80% cases
Weight loss Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with HLA-B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Photophobia
  • Aortic regurgitation
  • Not very common - Between 30% and 50% cases

  • Anemia
  • Migraine
  • Pain
  • Dilatation
  • Arthralgia
  • Myalgia

And 150 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to HLA-B gene

Here you will find a list of rare diseases related to the HLA-B. 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

BEHÇET DISEASE


Alternate names

BEHÇET DISEASE Is also known as bd, behcet disease

Description

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

Most common symptoms of BEHÇET DISEASE

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


More info about BEHÇET DISEASE

SOURCES: OMIM ORPHANET MESH

TAKAYASU ARTERITIS


Alternate names

TAKAYASU ARTERITIS Is also known as young female arteritis, aortic arch syndrome, pulseless disease

Description

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

Most common symptoms of TAKAYASU ARTERITIS

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


More info about TAKAYASU ARTERITIS

SOURCES: ORPHANET OMIM

SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1


Alternate names

SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 Is also known as ankylosing spondylitis, susceptibility to, marie-strumpell spondylitis, bechterew syndrome

Description

Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001).Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to SpondyloarthropathyAdditional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2 ) and chromosome 2q36 (SPDA3 ).

Most common symptoms of SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

  • Pain
  • Kyphosis
  • Arrhythmia
  • Photophobia
  • Arthritis


More info about SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

SOURCES: OMIM ORPHANET

PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONNECTIVE TISSUE DISEASE


Alternate names

PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONNECTIVE TISSUE DISEASE Is also known as pah associated with connective tissue disease

Description

Pulmonary arterial hypertension (PAH, see this term) associated with connective tissue disease (PAH-CTD) is a form of pulmonary arterial hypertension (PAH, see this term) characterized by an elevated pulmonary arterial resistance leading to right heart failure observed as a complication of a connective tissue disease.


More info about PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONNECTIVE TISSUE DISEASE

SOURCES: ORPHANET




If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like CLEC12B COL25A1 PDE4D GCKR CFTR

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more