GSN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GSN gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Abnormal autonomic nervous system physiology Very Common - Between 80% and 100% cases
Bilateral facial palsy Very Common - Between 80% and 100% cases
Cardiac amyloidosis Very Common - Between 80% and 100% cases
Lattice corneal dystrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Mild proteinuria
  • Facial paralysis
  • Bulbar signs
  • Abnormality of abdomen morphology
  • Amyloidosis
  • Orthostatic hypotension
  • Bulbar palsy
  • Corneal dystrophy

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to GSN gene

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


AGEL AMYLOIDOSIS


Alternate names

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy, amyloidosis, meretoja type, amyloidosis due to mutant gelsolin, amyloidosis v, familial amyloidosis, finnish type, gelsolin amyloidosis, familial amyloid polyneuropathy type iv, hereditary amyloidosis, f

Description

AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

Most common symptoms of AGEL AMYLOIDOSIS

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


More info about AGEL AMYLOIDOSIS

SOURCES: ORPHANET OMIM MESH


Potential gene panels for GSN gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

GSN Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the GSN gene.

More info about this panel

Amyloidosis, finnish type (sequence analysis of GSN gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the GSN gene.

More info about this panel

Hereditary amyloidosis (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN

More info about this panel

Hereditary amyloidosis (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Hereditary amyloidosis (NGS panel of 19 genes) that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN

More info about this panel

Gelsolin gene analysis Panel

Poland.

By Laboratory of Genetics BioTe21 Adam Master

This panel specifically test the GSN gene.

More info about this panel

Familial Amyloidosis (Finnish Type) via GSN Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the GSN gene.

More info about this panel

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

Hereditary Amyloidosis, gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Hereditary Amyloidosis, gene sequencing panel that also includes the following genes: TTR FGA GSN LYZ B2M

More info about this panel

Custom gene seqeuncing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S

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

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Single gene testing GSN Panel

Germany.

By CeGaT GmbH

This panel specifically test the GSN gene.

More info about this panel

Corneal Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

GSN Gene, Full Gene Analysis Panel

United States.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic

This panel specifically test the GSN gene.

More info about this panel

GSN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GSN gene.

More info about this panel

KidneySeq - 264 Genes Panel

United States.

By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E

More info about this panel

Corneal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2

More info about this panel

AMYLOIDOSIS HEREDITARY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYLOIDOSIS HEREDITARY NGS PANEL that also includes the following genes: TACSTD2 TGFBI TNFRSF1A TTR NLRP3 IL31RA CST3 F10 FGA GSN

More info about this panel

AMYLOIDOSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYLOIDOSIS that also includes the following genes: TTR IL31RA FGA GSN LYZ OSMR B2M

More info about this panel

Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL5A1 COL8A2 CYP4V2 ZNF469

More info about this panel

Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TTR IL31RA FGA GSN LYZ OSMR B2M

More info about this panel


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