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).

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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