LOXL1 gene related symptoms and diseases

All the information presented here about the LOXL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LOXL1 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Hypertension Very Common - Between 80% and 100% cases
Dilatation Very Common - Between 80% and 100% cases
Visual loss Very Common - Between 80% and 100% cases
Glaucoma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LOXL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Rigidity
  • Anisocoria
  • Mydriasis
  • Lens subluxation
  • Retinal vein occlusion
  • Age-related cataract
  • Phakodonesis
  • Pigment deposition in the trabecular meshwork

And 3 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LOXL1 gene

Here you will find a list of rare diseases related to the LOXL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EXFOLIATION SYNDROME; XFS


Alternate names

EXFOLIATION SYNDROME; XFS Is also known as exfoliation glaucoma, pseudoexfoliation glaucoma, pexg, pseudoexfoliation of the lens, xfg, pexs, pseudoexfoliation syndrome

Description

Exfoliation syndrome (XFS) is a common age-related disorder of the extracellular matrix that is frequently associated with severe chronic secondary open-angle glaucoma and cataract. XFS syndrome may affect up to 30% of people over 60 years of age worldwide and is biomicroscopically diagnosed by abnormal microfibrillar deposits on ocular structures that line the aqueous-bathed surfaces of the anterior segment (summary by Schlotzer-Schrehardt and Naumann, 2006).

Most common symptoms of EXFOLIATION SYNDROME; XFS

  • Cataract
  • Hypertension
  • Dilatation
  • Visual loss
  • Glaucoma


More info about EXFOLIATION SYNDROME; XFS

SOURCES: OMIM MESH


Potential gene panels for LOXL1 gene

Exfoliation syndrome, susceptibility to Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LOXL1 gene.

More info about this panel

Glaucoma Panel

Estonia.

By Asper Biogene Asper Biogene LLC Glaucoma that also includes the following genes: SLC4A4 BEST1 ACVR1 OPTN ASB10 CANT1 SBF2 COL18A1 CYP1B1 WDR36

More info about this panel

Glaucoma Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma that also includes the following genes: RPGRIP1 OPTN ASB10 OLFM2 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36

More info about this panel

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel

Glaucoma NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Glaucoma NGS Panel that also includes the following genes: RPS19 SLC4A4 TTR BEST1 CA4 ACVR1 OPTN RRM2B CANT1 SBF2

More info about this panel

LOXL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LOXL1 gene.

More info about this panel

GLAUCOMA NGS ÀNEL Panel

Spain.

By Laboratorio de Genetica Clinica SL GLAUCOMA NGS ÀNEL that also includes the following genes: SLC4A4 TEK BEST1 ACVR1 OPTN ASB10 MFRP CANT1 SBF2 COL18A1

More info about this panel

Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

By Reference Laboratory Genetics Glaucoma , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: RPGRIP1 OPTN ASB10 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36 FOXC1

More info about this panel


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