AGBL1 gene related symptoms and diseases

All the information presented here about the AGBL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AGBL1 gene

Symptoms // Phenotype % Cases
Corneal dystrophy Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases
Esophageal ulceration Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Opacification of the corneal stroma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AGBL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the eye
  • Blindness
  • Cataract
  • Esophageal carcinoma
  • Barrett esophagus
  • Obesity
  • Clinodactyly of the 5th toe
  • Esophagitis

And 7 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to AGBL1 gene

Here you will find a list of rare diseases related to the AGBL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADENOCARCINOMA OF THE ESOPHAGUS


Alternate names

ADENOCARCINOMA OF THE ESOPHAGUS Is also known as esophageal adenocarcinoma, barrett metaplasia

Description

Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach.

Most common symptoms of ADENOCARCINOMA OF THE ESOPHAGUS

  • Dysphagia
  • Obesity
  • Gastroesophageal reflux
  • Feeding difficulties in infancy
  • Cough


More info about ADENOCARCINOMA OF THE ESOPHAGUS

SOURCES: OMIM MESH ORPHANET

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY


Alternate names

FUCHS ENDOTHELIAL CORNEAL DYSTROPHY Is also known as fecd, late hereditary endothelial dystrophy, endoepithelial corneal dystrophy

Description

Fuchs endothelial corneal dystrophy (FECD) is the most frequent form of posterior corneal dystrophy (see this term) and is characterized by excrescences on a thickened Descemet membrane (corneal guttae), generalized corneal edema, with gradually decreased visual acuity.

Most common symptoms of FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

  • Cataract
  • Blindness
  • Abnormality of the eye
  • Opacification of the corneal stroma
  • Corneal dystrophy


More info about FUCHS ENDOTHELIAL CORNEAL DYSTROPHY

SOURCES: ORPHANET

CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8


Description

Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013).For a discussion of genetic heterogeneity of FECD, see FECD1 (OMIM ).

Most common symptoms of CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

  • Edema
  • Reduced visual acuity
  • Corneal dystrophy


More info about CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 8; FECD8

SOURCES: OMIM


Potential gene panels for AGBL1 gene

Corneal Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

AGBL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AGBL1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRICKLE2 EFNB1 NPHS1 ABCA12 PYGM WDR60 IRS2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more