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.
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
Search interest in GSN
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 United States.
GSN Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GSN gene.
More info about this panel Germany.
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 Portugal.
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 Portugal.
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 Portugal.
Gelsolin gene analysis Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the GSN gene.
More info about this panel Poland.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
Single gene testing GSN Panel
Germany.
By CeGaT GmbH
This panel specifically test the GSN gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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 United States.
GSN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GSN gene.
More info about this panel United States.
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 United States.
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 Finland.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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