OPTN gene related symptoms and diseases
All the information presented here about the OPTN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to OPTN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Open angle glaucoma | Uncommon - Between 30% and 50% cases |
| Muscle weakness | Uncommon - Between 30% and 50% cases |
| Fasciculations | Uncommon - Between 30% and 50% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Glaucoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with OPTN gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Respiratory failure
- Dysphagia
- Amyotrophic lateral sclerosis
Rarely - Less than 30% cases
- Xerostomia
- Muscle fibrillation
- Bulbar palsy
- Hypertension
- Agitation
And 47 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to OPTN gene
Here you will find a list of rare diseases related to the OPTN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
GLAUCOMA, PRIMARY OPEN ANGLE; POAG
Description
Quigley (1993) reviewed adult-onset primary open angle glaucoma, which combines a particular abnormal appearance of the optic disc (optic nerve head) with a slowly progressive loss of visual sensitivity. Many patients with glaucoma have intraocular pressures above the normal range, although this cannot be considered part of the definition of the disease, since some patients have normal intraocular pressures. Changes in the optic disc, either inherited or acquired, contribute to the development of the disorder, which leads to visual loss from increasing nerve fiber layer atrophy. Quigley et al. (1994) stated that POAG should be reviewed as a multifactorial disorder.
Most common symptoms of GLAUCOMA, PRIMARY OPEN ANGLE; POAG
- Hypertension
- Peripheral neuropathy
- Myopia
- Optic atrophy
- Blindness
More info about GLAUCOMA, PRIMARY OPEN ANGLE; POAG
SOURCES: OMIM
AMYOTROPHIC LATERAL SCLEROSIS
Alternate names
AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS
- Microcephaly
- Muscle weakness
- Pain
- Cataract
- Spasticity
More info about AMYOTROPHIC LATERAL SCLEROSIS
AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12
- Muscle weakness
- Dysarthria
- Dysphagia
- Respiratory failure
- Fasciculations
More info about AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12
SOURCES: OMIM
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
Alternate names
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO Is also known as npg, ntg, glaucoma, normal pressure, susceptibility to
Most common symptoms of GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
- Blindness
- Glaucoma
- Increased intraocular pressure
- Open angle glaucoma
More info about GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO
SOURCES: OMIM
Search interest in OPTN
Potential gene panels for OPTN 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.
Amyotrophic Lateral Sclerosis Advanced Evaluation Panel
United States.
By Athena Diagnostics Inc Amyotrophic Lateral Sclerosis Advanced Evaluation that also includes the following genes: SOD1 SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1
More info about this panel United States.
Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation that also includes the following genes: SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1 FUS
More info about this panel United States.
Optic Atrophy and Early Glaucoma Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Optic Atrophy and Early Glaucoma Panel that also includes the following genes: SLC4A4 SPG7 TBK1 ACO2 BEST1 WFS1 ACVR1 OPTN ASB10 MFRP
More info about this panel United States.
Amyotrophic Lateral Sclerosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART
More info about this panel United States.
Dementia Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72
More info about this panel United States.
Primary Open Angle Glaucoma (Adult onset) Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Primary Open Angle Glaucoma (Adult onset) that also includes the following genes: OPTN WDR36 MYOC
More info about this panel Denmark.
OPTN Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the OPTN gene.
More info about this panel United States.
OPTN mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the OPTN gene.
More info about this panel Netherlands.
OPTN. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the OPTN gene.
More info about this panel Spain.
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS that also includes the following genes: OPTN CYP1B1 LTBP2 MYOC
More info about this panel Spain.
Primary adult open-angle glaucoma (sequence analysis of OPTN gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the OPTN gene.
More info about this panel Portugal.
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2
More info about this panel United States.
Glaucoma Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Glaucoma Sequencing Panel with CNV Detection that also includes the following genes: SLC4A4 ATOH7 OPTN MFRP COL4A1 COL8A1 COL8A2 CYP1B1 SH3PXD2B WDR36
More info about this panel United States.
Amyotrophic Lateral Sclerosis via OPTN Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the OPTN gene.
More info about this panel United States.
Amyotrophic lateral sclerosis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Comprehensive panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Amyotrophic lateral sclerosis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders NGS panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3
More info about this panel Germany.
Amyotrophic lateral sclerosis type 12 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OPTN gene.
More info about this panel Germany.
Glaucoma, open angle type 1E Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the OPTN gene.
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.
ALS panel Panel
Germany.
By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART
More info about this panel Germany.
Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN
More info about this panel United States.
Amyotrophic Lateral Sclerosis NGS Panel Panel
United States.
By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN
More info about this panel United States.
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
Germany.
By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1
More info about this panel Germany.
Amyotrophic Lateral Sclerosis (ALS) Panel Panel
Germany.
By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2
More info about this panel Germany.
Frontotemporal Dementia (FTD) Panel Panel
Germany.
By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2
More info about this panel Germany.
Dementia all Panel Panel
Germany.
By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4
More info about this panel Germany.
Single gene testing OPTN Panel
Germany.
By CeGaT GmbH
This panel specifically test the OPTN gene.
More info about this panel Germany.
Amyotrophic lateral sclerosis Panel
Poland.
By Laboratory of Human Genetics GENOMED Health Care Center Amyotrophic lateral sclerosis that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN4 TUBA4A VAPB CHCHD10 FIG4 OPTN
More info about this panel Poland.
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 Estonia.
Amyotrophic Lateral Sclerosis Panel
Estonia.
By Asper Biogene Asper Biogene LLC Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10
More info about this panel Estonia.
Amyotrophic lateral sclerosis 12 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the OPTN gene.
More info about this panel Austria.
Glaucoma 1, open angle, E Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the OPTN gene.
More info about this panel Austria.
Amyotrophic lateral sclerosis 12 Panel
Slovakia.
By MedGene
This panel specifically test the OPTN gene.
More info about this panel Slovakia.
Glaucoma 1, open angle, E Panel
Slovakia.
By MedGene
This panel specifically test the OPTN gene.
More info about this panel Slovakia.
Invitae Amyotrophic Lateral Sclerosis Panel Panel
United States.
By Invitae Invitae Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB CHCHD10 OPTN DCTN1
More info about this panel United States.
Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel
United States.
By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10
More info about this panel United States.
AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. that also includes the following genes: SOD1 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2 SETX
More info about this panel Spain.
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 Spain.
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 Spain.
NGS panel - dementia Panel
Netherlands.
By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB
More info about this panel Netherlands.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Amyotrophic Lateral Sclerosis NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN
More info about this panel United States.
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 United States.
OPTN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the OPTN gene.
More info about this panel United States.
PAGET-Complete Panel
Hungary.
By PentaCoreLab PAGET-Complete that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B TNFSF11 VCP OPTN DCSTAMP CSF1
More info about this panel Hungary.
Amyotrophic Lateral Sclerosis Panel Panel
Finland.
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panel Finland.
Glaucoma Panel Panel
Finland.
By Blueprint Genetics Glaucoma Panel that also includes the following genes: TBK1 TEK CNTNAP2 OPTN COL4A1 TMEM126A CYP1B1 WDR36 FOXC1 FOXE3
More info about this panel Finland.
Hereditary glaucoma Panel
Spain.
By Bioarray
This panel specifically test the OPTN gene.
More info about this panel Spain.
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL RECESSIVE) that also includes the following genes: SPG11 OPTN SPART ALS2 SIGMAR1
More info about this panel Spain.
GLAUCOMA, CONGENITAL Panel
Spain.
By Laboratorio de Genetica Clinica SL GLAUCOMA, CONGENITAL that also includes the following genes: OPTN CYP1B1 MYOC
More info about this panel Spain.
GLAUCOMA, OPEN ANGLE Panel
Spain.
By Laboratorio de Genetica Clinica SL GLAUCOMA, OPEN ANGLE that also includes the following genes: OPTN ASB10 WDR36 MYOC NTF4
More info about this panel Spain.
AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL that also includes the following genes: ATXN2 SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP CHCHD10
More info about this panel Spain.
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 Spain.
Primary Open-Angle Glaucoma Type 1E, Sequencing OPTN Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the OPTN gene.
More info about this panel Spain.
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SOD1 SPG11 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2
More info about this panel Spain.
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 Spain.
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