Trait
Achalasia
A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus.
Summary
- Also called
- Achalasia of the esophagus, Achalasia of the oesophagus
- Body system
- Abnormality of the digestive system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Achalasia, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test18 genes linked to Achalasia
Changes in these genes cause rare conditions in which Achalasia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AAASaladin WD repeat nucleoporin | Always | In 2 conditions |
| ACTBactin beta | Always | In 2 conditions |
| BUD13BUD13 spliceosome associated protein | Always | In 1 condition |
| GUCY1A1guanylate cyclase 1 soluble subunit alpha 1 | Always | In 1 condition |
| MEIS2Meis homeobox 2 | Always | In 1 condition |
| MYO1Hmyosin IH | Always | In 1 condition |
| GMPPAGDP-mannose pyrophosphorylase A | Very often (80–99%) | In 2 conditions |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Very often (80–99%) | In 2 conditions |
| TRAPPC11trafficking protein particle complex subunit 11 | Very often (80–99%) | In 2 conditions |
| COL4A5collagen type IV alpha 5 chain | Often (30–79%) | In 1 condition |
| COL4A6collagen type IV alpha 6 chain | Often (30–79%) | In 1 condition |
| MRAPmelanocortin 2 receptor accessory protein | Often (30–79%) | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Often (30–79%) | In 1 condition |
| GLAgalactosidase alpha | Sometimes (5–29%) | In 1 condition |
| SAMD9sterile alpha motif domain containing 9 | Sometimes (5–29%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Sometimes (5–29%) | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Not recorded | In 1 condition |
| IVNS1ABPinfluenza virus NS1A binding protein | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks