Achalasia, Familial Esophageal
Description
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 (Farrokhi and Vaezi, 2007; summary by Gockel et al., 2010).
Genes related to Achalasia, Familial Esophageal
- NOS1
- HLA-DQA1
- HLA-DQB1
- CRLF1
Clinical Features
Phenotypes and symptoms related to Achalasia, Familial Esophageal
- Rheumatoid arthritis
- Keratoconjunctivitis sicca
- Xerostomia
- Achalasia
Incidence and onset information
— Based on the latest data available Achalasia, Familial Esophageal have a estimated incidence of 0.77 per 100k in Europe.
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Achalasia, Familial Esophageal Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
NOS1.
By Fulgent Genetics Fulgent Genetics in United States.
NOS1
Specificity
100 %
Genes
25 % |
Celiac Disease (HLA-DQ2 and HLA-DQ8) Genotyping.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
HLA-DQB1, HLA-DQA1
Specificity
100 %
Genes
50 % |
Celiac disease (HLA-DQ/DR).
By CGC Genetics in Portugal.
HLA-DQB1, HLA-DQA1
Specificity
100 %
Genes
50 % |
Lactose intolerance (MCM6 gene) and Celiac disease (HLA-DQ2/ HLA-DQ8).
By CGC Genetics in Portugal.
HLA-DQB1, HLA-DQA1, MCM6
Specificity
67 %
Genes
50 % |
Celiac Disease via Next Generation Sequencing HLA Typing.
By PreventionGenetics PreventionGenetics in United States.
HLA-DQB1, HLA-DQA1
Specificity
100 %
Genes
50 % |
HLA DQ2/DQ8.
By Furst Medical Laboratories, FurstNAT in Norway.
HLA-DQB1, HLA-DQA1
Specificity
100 %
Genes
50 % |
Celiac Disease (HLA-DQA1*05, HLA-DQB1*02, and HLA-DQB1*03:02) Genotyping.
By Molecular Genetics Laboratory Genetrack Biolabs Inc. in Canada.
HLA-DQB1, HLA-DQA1
Specificity
100 %
Genes
50 % |
HLA-DQA1.
By Fulgent Genetics Fulgent Genetics in United States.
HLA-DQA1
Specificity
100 %
Genes
25 % |
Tempus xT assay.
By Tempus Labs, Inc. in United States.
BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)
View the complete list with 571 more genes
Specificity
1 %
Genes
50 % |
Narcolepsy (HLA-DQB1 06:02) Genotyping.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
HLA-DQB1
Specificity
100 %
Genes
25 % |
Narcolepsy Risk Factor.
By Bioscientia GmbH Center for Human Genetics in Germany.
HLA-DQB1, HLA-DRB1
Specificity
50 %
Genes
25 % |
CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome.
By Bioscientia GmbH Center for Human Genetics in Germany.
CRLF1
Specificity
100 %
Genes
25 % |
Cold-Induced sweating syndrome including Crisponi syndrome: CRLF1 gene sequence analysis.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
CRLF1
Specificity
100 %
Genes
25 % |
CRLF1.
By Fulgent Genetics Fulgent Genetics in United States.
CRLF1
Specificity
100 %
Genes
25 % |
CRISPONI SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
CRLF1, CLCF1
Specificity
50 %
Genes
25 % |
COLD INDUCED SWEATING SYNDROME.
By Laboratorio de Genetica Clinica SL in Spain.
CRLF1, CLCF1
Specificity
50 %
Genes
25 % |
Induced Sweating by Cold Syndrome including Crisponi Syndrome , Sequencing CRLF1 Gene.
By Reference Laboratory Genetics in Spain.
CRLF1
Specificity
100 %
Genes
25 % |
Alternate names
Achalasia, Familial Esophageal Is also known as ;achalasia cardia; idiopathic achalasia of esophagus; primary achalasia.
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