Details of Disease

General Information of Disease (ID: DISBZNRO)

• Disease Name: Idiopathic achalasia
• Synonyms: primary achalasia; idiopathic achalasia of oesophagus; achalasia cardia; idiopathic achalasia of esophagus
• Definition: A primary esophageal motor disorder characterized by loss of esophageal peristalsis and insufficient lower esophageal sphincter (LES) relaxation in response to deglutition.
• Disease Hierarchy:
  DISK845N: Achalasia
  DISBBY0S: Idiopathic disease
  DISBZNRO: Idiopathic achalasia
• Disease Identifiers:
  MONDO ID: MONDO_0019635
  UMLS CUI: C0859976
  MedGen ID: 798339
  Orphanet ID: 930
  SNOMED CT ID: 715192004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CRLF1	TT6YF5K	Supportive	Autosomal recessive	[1]
CRLF1	TT6YF5K	Strong	GermlineCausalMutation	[1]
HLA-DQA1	TTU2I3J	Strong	SusceptibilityMutation	[2]
NOS1	TTZUFI5	Definitive	GermlineCausalMutation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NOS1	DEYEK78	Supportive	Autosomal recessive	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRLF1	OT55PXIN	Supportive	Autosomal recessive	[1]
NOS1	OT7M8XVG	Supportive	Autosomal recessive	[3]
HLA-DQB1	OTVVI3UI	Strong	SusceptibilityMutation	[2]

References

• [1] Mutations in CRLF1 cause familial achalasia. Clin Genet. 2017 Jul;92(1):104-108. doi: 10.1111/cge.12953. Epub 2017 Mar 15.
• [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.