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Achalasia, familial esophageal

MedGen UID:
395436
•Concept ID:
C1860213
•
Disease or Syndrome
Synonym: Familial esophageal achalasia
 
Monarch Initiative: MONDO:0100457
OMIM®: 200400

Definition

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 typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (summary by Farrokhi and Vaezi, 2007 and Gockel et al., 2010). [from OMIM]

Clinical features

From HPO
Achalasia
MedGen UID:
5023
•Concept ID:
C0014848
•
Disease or Syndrome
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.
See: Feature record | Search on this feature
Rheumatoid arthritis
MedGen UID:
2078
•Concept ID:
C0003873
•
Disease or Syndrome
Rheumatoid arthritis is an inflammatory disease, primarily of the joints, with autoimmune features and a complex genetic component.
See: Feature record | Search on this feature
Keratoconjunctivitis sicca
MedGen UID:
9620
•Concept ID:
C0022575
•
Disease or Syndrome
Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids.
See: Feature record | Search on this feature
Xerostomia
MedGen UID:
22735
•Concept ID:
C0043352
•
Disease or Syndrome
Dryness of the mouth due to salivary gland dysfunction.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Frequency and clinical characteristics of special types of achalasia in Japan: A large-scale, multicenter database study.
Tanaka S, Abe H, Sato H, Shiwaku H, Minami H, Sato C, Ogawa R, Shimamura Y, Yokomichi H, Inoue H
J Gastroenterol Hepatol 2021 Oct;36(10):2828-2833. Epub 2021 Jun 13 doi: 10.1111/jgh.15557. PMID: 34032322
Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years.
Tebaibia A, Boudjella MA, Boutarene D, Benmediouni F, Brahimi H, Oumnia N
World J Gastroenterol 2016 Oct 14;22(38):8615-8623. doi: 10.3748/wjg.v22.i38.8615. PMID: 27784974Free PMC Article

Diagnosis

Frequency and clinical characteristics of special types of achalasia in Japan: A large-scale, multicenter database study.
Tanaka S, Abe H, Sato H, Shiwaku H, Minami H, Sato C, Ogawa R, Shimamura Y, Yokomichi H, Inoue H
J Gastroenterol Hepatol 2021 Oct;36(10):2828-2833. Epub 2021 Jun 13 doi: 10.1111/jgh.15557. PMID: 34032322
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.
Koehler K, Hmida D, Schlossmann J, Landgraf D, Reisch N, Schuelke M, Huebner A
Neurogastroenterol Motil 2020 Dec;32(12):e13923. Epub 2020 Jun 22 doi: 10.1111/nmo.13923. PMID: 32573102
Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years.
Tebaibia A, Boudjella MA, Boutarene D, Benmediouni F, Brahimi H, Oumnia N
World J Gastroenterol 2016 Oct 14;22(38):8615-8623. doi: 10.3748/wjg.v22.i38.8615. PMID: 27784974Free PMC Article
Achalasia familiar: report of a family with an autosomal dominant pattern of inherence.
Gordillo-González G, Guatibonza YP, Zarante I, Roa P, Jacome LA, Hani A
Dis Esophagus 2011 Jan;24(1):E1-4. Epub 2010 Nov 12 doi: 10.1111/j.1442-2050.2010.01124.x. PMID: 21073617

Prognosis

Incidence, clinical features and para-clinical findings of achalasia in Algeria: Experience of 25 years.
Tebaibia A, Boudjella MA, Boutarene D, Benmediouni F, Brahimi H, Oumnia N
World J Gastroenterol 2016 Oct 14;22(38):8615-8623. doi: 10.3748/wjg.v22.i38.8615. PMID: 27784974Free PMC Article

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