Achalasia

Alias:
Cardiospasm
Esophageal Achalasia
Achalasia of Cardia
Hypertensive Lower Esophageal Sphincter
Lack of Reflex Relaxation of Lower Oesophageal Sphincter
Aperistalsis of the Oesophagus
Achalasia of Oesophagus
Oesophageal Cardiospasm
Achalasia of Esophagus
Oesophageal Achalasia
Oesophagus Achalasia
Reflex Cardiospasm
Cardia Achalasia
Achalasia Nos
Cardia Spasm
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achalasia, also known as cardiospasm, is related to achalasia-addisonianism-alacrima syndrome and megaesophagus. An important gene associated with Achalasia is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Metabolism and G-Beta Gamma Signaling. The drugs Fentanyl and Oxycodone have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and liver, and related phenotypes are homeostasis/metabolism and nervous system
Related ID:
MESH:D004931
ICD11:636464846

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
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25
298
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Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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