Idiopathic 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.

Clinical Features

Top most frequent phenotypes and symptoms related to Idiopathic Achalasia

  • Pain
  • Dysphagia
  • Vomiting
  • Weight loss
  • Gastroesophageal reflux
  • Arthritis
  • Cough
  • Chest pain
  • Asthma
  • Aspiration

And another 8 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available IDIOPATHIC ACHALASIA have a estimated incidence of 0.77 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Idiopathic Achalasia Is also known as idiopathic achalasia of esophagus, achalasia cardia, primary achalasia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Idiopathic Achalasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Celiac Disease (HLA-DQ2 and HLA-DQ8) Genotyping.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

HLA-DQA1, HLA-DQB1
Specificity
100 %
Genes
50 %
Celiac disease (HLA-DQ/DR).

By CGC Genetics (Portugal).

HLA-DQA1, HLA-DQB1
Specificity
100 %
Genes
50 %
Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8).

By CGC Genetics (Portugal).

HLA-DQA1, HLA-DQB1, MCM6
Specificity
67 %
Genes
50 %
Celiac Disease via Next Generation Sequencing HLA Typing.

By PreventionGenetics PreventionGenetics (United States).

HLA-DQA1, HLA-DQB1
Specificity
100 %
Genes
50 %
HLA DQ2/DQ8.

By Furst Medical Laboratories, FurstNAT (Norway).

HLA-DQA1, HLA-DQB1
Specificity
100 %
Genes
50 %
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

HLA-DQA1, HLA-DQB1
Specificity
100 %
Genes
50 %
HLA-DQA1.

By Fulgent Genetics Fulgent Genetics (United States).

HLA-DQA1
Specificity
100 %
Genes
25 %
Tempus xT assay.

By Tempus Labs, Inc. (United States).

BCL6, RIT1, BCL7A, BCR, ROS1, RPL5, RPS15, RPS6KB1, RUNX1, RXRA, BLM, SDHA, SDHB, SDHC, SDHD, SEC23B, SEMA3C, BMPR1A, SF3B1, SRSF2 , (...)

View the complete list with 555 more genes
Specificity
1 %
Genes
50 %

We have 9 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 4C; WS4C PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1; CMM1

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