HLA-DQB1 gene related symptoms and diseases

All the information presented here about the HLA-DQB1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HLA-DQB1 gene

Symptoms // Phenotype % Cases
Autoimmunity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Weight loss Uncommon - Between 30% and 50% cases
Sleep disturbance Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HLA-DQB1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Hallucinations
  • Memory impairment
  • Confusion
  • Depressivity
  • Rarely - Less than 30% cases

  • Tremor
  • Ataxia
  • Spasticity
  • Visual impairment

And 157 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HLA-DQB1 gene

Here you will find a list of rare diseases related to the HLA-DQB1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


IDIOPATHIC ACHALASIA


Alternate names

IDIOPATHIC ACHALASIA Is also known as idiopathic achalasia of esophagus, achalasia cardia, primary achalasia

Description

Idiopathic achalasia (IA) is a primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.

Most common symptoms of IDIOPATHIC ACHALASIA

  • Pain
  • Dysphagia
  • Vomiting
  • Weight loss
  • Gastroesophageal reflux


More info about IDIOPATHIC ACHALASIA

SOURCES: ORPHANET OMIM

BULLOUS PEMPHIGOID


Description

Bullous pemphigoid (BP) is the most common form of autoimmune bullous dermatosis.

Most common symptoms of BULLOUS PEMPHIGOID

  • Recurrent infections
  • Diabetes mellitus
  • Weight loss
  • Erythema
  • Autoimmunity


More info about BULLOUS PEMPHIGOID

SOURCES: ORPHANET MESH

SPORADIC CREUTZFELDT-JAKOB DISEASE


Alternate names

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd, creutzfeldt-jakob disease, familial

Description

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

Most common symptoms of SPORADIC CREUTZFELDT-JAKOB DISEASE

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

SOURCES: OMIM ORPHANET

NARCOLEPSY TYPE 1


Alternate names

NARCOLEPSY TYPE 1 Is also known as g√Člineau disease, narcoleptic syndrome 1, narcolepsy-cataplexy

Description

Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions).

Most common symptoms of NARCOLEPSY TYPE 1

  • Neoplasm
  • Obesity
  • Hyperactivity
  • Abnormality of the eye
  • Paralysis


More info about NARCOLEPSY TYPE 1

SOURCES: ORPHANET OMIM

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


Alternate names

MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Most common symptoms of MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

SOURCES: OMIM

LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES


Alternate names

LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES Is also known as limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies

Description

Limbic encephalitis with LGI1 antibodies is a rare neuroimmunological disorder characterized by the onset of cognitive decline, psychiatric disturbances and seizures (distinctively faciobrachial dystonic seizures) in association with detection of LGI1 antibodies in serum or cerebrospinal fluid. Patients may present with confusion, hallucinations, vocalization, paranoia, tangentiality, aggressive outbursts and/or spatial disorientation, as well as obstinate hyponatremia. It is most often non-paraneoplastic, however comorbid tumors, such as small cell lung cancer and thymoma, have been reported.

Most common symptoms of LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES

  • Seizures
  • Neoplasm
  • Confusion
  • Sleep disturbance
  • Memory impairment


More info about LIMBIC ENCEPHALITIS WITH LGI1 ANTIBODIES

SOURCES: ORPHANET

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Alternate names

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1, gluten-sensitive enteropathy, susceptibility to, 1

Description

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

Most common symptoms of CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

SOURCES: OMIM

PEDIATRIC MULTIPLE SCLEROSIS


Description

Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.


More info about PEDIATRIC MULTIPLE SCLEROSIS

SOURCES: ORPHANET

NARCOLEPSY TYPE 2


Alternate names

NARCOLEPSY TYPE 2 Is also known as narcolepsy without cataplexy

Description

Narcolepsy without cataplexy is characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and sometimes paralysis at sleep, hypnagogic hallucinations and automatic behavior.

Most common symptoms of NARCOLEPSY TYPE 2

  • Behavioral abnormality
  • Sleep disturbance
  • Hallucinations
  • Insomnia
  • Excessive daytime somnolence


More info about NARCOLEPSY TYPE 2

SOURCES: ORPHANET


Potential gene panels for HLA-DQB1 gene

Narcolepsy (HLA-DQB1 06:02) Genotyping Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics

This panel specifically test the HLA-DQB1 gene.

More info about this panel

Celiac Disease (HLA-DQ2 and HLA-DQ8) Genotyping Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Celiac Disease (HLA-DQ2 and HLA-DQ8) Genotyping that also includes the following genes: HLA-DQA1 HLA-DQB1

More info about this panel

Celiac disease (HLA-DQ/DR) Panel

Portugal.

By CGC Genetics Celiac disease (HLA-DQ/DR) that also includes the following genes: HLA-DQA1 HLA-DQB1

More info about this panel

Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8) Panel

Portugal.

By CGC Genetics Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8) that also includes the following genes: HLA-DQA1 HLA-DQB1 MCM6

More info about this panel

Celiac Disease via Next Generation Sequencing HLA Typing Panel

United States.

By PreventionGenetics PreventionGenetics Celiac Disease via Next Generation Sequencing HLA Typing that also includes the following genes: HLA-DQA1 HLA-DQB1

More info about this panel

Narcolepsy Risk Factor Panel

Germany.

By Bioscientia GmbH Center for Human Genetics Narcolepsy Risk Factor that also includes the following genes: HLA-DQB1 HLA-DRB1

More info about this panel

HLA DQ2/DQ8 Panel

Norway.

By Furst Medical Laboratories, FurstNAT HLA DQ2/DQ8 that also includes the following genes: HLA-DQA1 HLA-DQB1

More info about this panel

Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping that also includes the following genes: HLA-DQA1 HLA-DQB1

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


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