Details of Disease

General Information of Disease (ID: DISK845N)

• Disease Name: Achalasia
• Synonyms: cardiospasm; achalasia; hypertensive lower esophageal sphincter; achalasia of oesophagus; achalasia of cardia; achalasia of esophagus; esophageal achalasia; lack of reflex relaxation of lower oesophageal sphincter; achalasia (disease)
• Definition: A finding indicating the lack of adequate relaxation of the lower esophageal sphincter resulting in difficulty swallowing food.
• Disease Hierarchy:
  DIS5L3HQ: Esophageal disorder
  DISK845N: Achalasia
• Disease Identifiers:
  MONDO ID: MONDO_0008698
  MESH ID: D004931
  UMLS CUI: C0014848
  MedGen ID: 5023
  HPO ID: HP:0002571
  SNOMED CT ID: 45564002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FUT3	TTUPAD7	moderate	Biomarker	[1]
HLA-DQA1	TTU2I3J	Strong	Genetic Variation	[2]
NOS1	TTZUFI5	Strong	Biomarker	[3]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GUCY1A1	OTPTCBUN	Limited	Genetic Variation	[4]
AAAS	OTJT9T23	Strong	Genetic Variation	[5]
AGA	OTNWT1WB	Strong	Genetic Variation	[6]
DBI	OT884QY9	Strong	Biomarker	[7]
ECI1	OTRQTK84	Strong	Biomarker	[8]
HLA-DQB1	OTVVI3UI	Strong	Genetic Variation	[9]
IARS2	OTDX4SCA	Strong	Biomarker	[10]
ISLR2	OTUJZIDC	Strong	Genetic Variation	[11]
LMNA	OT3SG7ZR	Strong	Biomarker	[12]
NPNT	OTFZAO1G	Strong	Biomarker	[13]
PNMA2	OTF5YBQG	Strong	Biomarker	[14]
RNASE2	OT8Z4FNE	Strong	Biomarker	[15]
SPRY2	OTH0CRCZ	Strong	Biomarker	[16]

References

• [1] Achalasia diagnosed despite normal integrated relaxation pressure responds favorably to therapy.Neurogastroenterol Motil. 2019 Jun;31(6):e13586. doi: 10.1111/nmo.13586. Epub 2019 Apr 7.
• [2] Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia.Nat Genet. 2014 Aug;46(8):901-4. doi: 10.1038/ng.3029. Epub 2014 Jul 6.
• [3] Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. Gastroenterology. 2015 Mar;148(3):533-536.e4. doi: 10.1053/j.gastro.2014.11.044. Epub 2014 Dec 3.
• [4] Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.PLoS One. 2018 Jul 12;13(7):e0200446. doi: 10.1371/journal.pone.0200446. eCollection 2018.
• [5] Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene.Ophthalmic Genet. 2009 Mar;30(1):45-9. doi: 10.1080/13816810802502962.
• [6] Clinical Practice Update: The Use of Per-Oral Endoscopic Myotomy in Achalasia: Expert Review and Best Practice AdviceFrom the AGA Institute.Gastroenterology. 2017 Nov;153(5):1205-1211. doi: 10.1053/j.gastro.2017.10.001. Epub 2017 Oct 6.
• [7] The assessment of the esophageal motility of children with esophageal disorders by the detailed observation of the pH-multichannel intraluminal impedance waveform and baseline impedance: screening test potential.Esophagus. 2019 Apr;16(2):133-140. doi: 10.1007/s10388-018-0640-x. Epub 2018 Aug 25.
• [8] Multiple Rapid Swallows (MRS) Complements Single-Swallow (SS) Analysis for High-Resolution Esophageal Manometry (HREM).Dig Dis Sci. 2019 Aug;64(8):2206-2213. doi: 10.1007/s10620-019-05545-2. Epub 2019 Feb 25.
• [9] First genotype-phenotype study reveals HLA-DQ1 insertion heterogeneity in high-resolution manometry achalasia subtypes.United European Gastroenterol J. 2019 Feb;7(1):45-51. doi: 10.1177/2050640618804717. Epub 2018 Oct 3.
• [10] Expanding the clinical phenotype of IARS2-related mitochondrial disease.BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.
• [11] Innovative and Contemporary Interventional Therapies for Esophageal Diseases.J Thorac Imaging. 2019 Jul;34(4):217-235. doi: 10.1097/RTI.0000000000000423.
• [12] Mice that express farnesylated versions of prelamin A in neurons develop achalasia.Hum Mol Genet. 2015 May 15;24(10):2826-40. doi: 10.1093/hmg/ddv043. Epub 2015 Feb 4.
• [13] Poem Versus Laparoscopic Heller Myotomy in the Treatment of Esophageal Achalasia: A Case-Control Study from Two High Volume Centers Using the Propensity Score.J Gastrointest Surg. 2020 Mar;24(3):505-515. doi: 10.1007/s11605-019-04465-w. Epub 2019 Dec 17.
• [14] Gelatinase B/Matrix Metalloproteinase-9 as Innate Immune Effector Molecule in Achalasia.Clin Transl Gastroenterol. 2018 Nov 19;9(11):208. doi: 10.1038/s41424-018-0076-6.
• [15] Activated Eosinophils are Present in Esophageal Muscle in Patients with Achalasia of the Esophagus.Med Sci Monit. 2018 Apr 19;24:2377-2383. doi: 10.12659/msm.909727.
• [16] Loss of mammalian Sprouty2 leads to enteric neuronal hyperplasia and esophageal achalasia.Nat Neurosci. 2005 Jul;8(7):855-7. doi: 10.1038/nn1485.