Familial esophageal achalasia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 4
OrphanetNr: 99723
OMIM Id: 200400
ICD-10: K22.0
UMLs: C1860213
MeSH: C536011
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: autosomal dominant
autosomal recessive
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

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 19 / 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 ...