Idiopathic achalasia

General Information (adopted from Orphanet):

Synonyms, Signs: Primary achalasia
Number of Symptoms 5
OrphanetNr: 930
OMIM Id: 200400
ICD-10: K22.0
UMLs: C0859976
MeSH: C536011
MedDRA: 10036669
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare gastro-esophageal disease
 -Rare gastroenterologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000217) Xerostomia 35 / 7739
2
(HPO:0001097) Keratoconjunctivitis sicca 25 / 7739
3
(HPO:0001370) Rheumatoid arthritis 12 / 7739
4
(HPO:0002571) Achalasia Very frequent [Orphanet] 19 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients ...
Clinical Description OMIM Thibert et al. (1965) described 2 families, each with 2 affected sibs under 16 years of age.

Cloud et al. (1966) observed the disorder in 4 Apache Indian sibs less than 6 years old. Westley et ...