HLA-DQA1 gene related symptoms and diseases

All the information presented here about the HLA-DQA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HLA-DQA1 gene

Symptoms // Phenotype % Cases
Vomiting Common - Between 50% and 80% cases
Weight loss Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Chronic diarrhea Uncommon - Between 30% and 50% cases
Rickets Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with HLA-DQA1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal intestine morphology
  • Spontaneous abortion
  • Type I diabetes mellitus
  • Hypocalcemia
  • Inflammatory abnormality of the skin
  • Hypoplasia of dental enamel
  • Malnutrition
  • Eczema

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-DQA1 gene

Here you will find a list of rare diseases related to the HLA-DQA1. 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

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

ADULT-ONSET MYASTHENIA GRAVIS


Alternate names

ADULT-ONSET MYASTHENIA GRAVIS Is also known as adult-onset acquired myasthenia, adult-onset autoimmune myasthenia gravis

Description

Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma (see this term).


More info about ADULT-ONSET MYASTHENIA GRAVIS

SOURCES: ORPHANET


Potential gene panels for HLA-DQA1 gene

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

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

HLA-DQA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HLA-DQA1 gene.

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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