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PedAM

Pediatric Disease Annotations & Medicines



   idiopathic achalasia
  

Disease ID 1741
Disease idiopathic achalasia
Definition
Characterised by loss of oesophageal peristalsis and insufficient lower oesophageal sphincter relaxation in response to deglutition. A rare disease with no gender predilection, the peak incidence occurs between 30 and 60 years of age. Although the precise aetiology is unknown, it is often thought to be either autoimmune, viral immune, or neurodegenerative. Some familial cases have been reported, but the rarity of familial occurrence does not support the hypothesis that genetic inheritance is a significant aetiologic factor.
Synonym
idiopathic achalasia of esophagus
idiopathic achalasia of esophagus (disorder)
idiopathic achalasia of oesophagus
primary achalasia
Orphanet
UMLS
C0859976
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:1)
C0041234  |  chagas' disease  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
HLA-DQA1  |  3117  |  ORPHANET
HLA-DQB1  |  3119  |  ORPHANET
NOS1  |  4842  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:3)
NOS1  |  12q24.22
HLA-DQA1  |  6p21.32
HLA-DQB1  |  6p21.32
Disease ID 1741
Disease idiopathic achalasia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:1)
HP:0002571  |  Achalasia
Text Mined Phenotype(Waiting for update.)
Disease ID 1741
Disease idiopathic achalasia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)