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.

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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. Genetic Heterogeneity of Primary Open Angle GlaucomaOther forms of primary open angle glaucoma include GLC1A (OMIM ), caused by mutation in the MYOC gene (OMIM ) on chromosome 1q24.3-q25.2; GLC1B (OMIM ) on chromosome 2cen-q13; GLC1C (OMIM ) on chromosome 3q21-q24; GLC1D (OMIM ) on chromosome 8q23; GLC1F (OMIM ), caused by mutation in the ASB10 gene on chromosome 7q36; GLC1G (OMIM ), caused by mutation in the WDR36 gene (OMIM ) on chromosome 5q22; GLC1H (OMIM ) on chromosome 2p16-p15; GLC1I (OMIM ) on chromosome 15q11-q13; GLC1J (OMIM ) on chromosome 9q22; GLC1K (OMIM ) on chromosome 20p12; GLC1L (see {137750}) on chromosome 3p22-p21; GLC1M (OMIM ) on chromosome 5q22; GLC1N (OMIM ) on chromosome 15q22-q24; GLC1O (OMIM ), caused by mutation in the NTF4 gene (OMIM ) on chromosome 19q13.3; GLC1P (OMIM ), caused by an approximately 300-kb duplication on chromosome 12q24, most likely involving the TBK1 gene (OMIM ).Nail-patella syndrome (NPS ), which is caused by mutation in the LMX1B gene (OMIM ) on chromosome 9q34, has open angle glaucoma as a pleiotropic feature. Other Forms of GlaucomaFor a general description and a discussion of genetic heterogeneity of congenital forms of glaucoma, see GLC3A (OMIM ).See {606657} for a discussion of normal tension glaucoma (NTG) or normal pressure glaucoma (NPG), a subtype of POAG.

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

SOURCES: OMIM MESH ORPHANET

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


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

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

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

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

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

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

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

OPTN Gene Sequencing Panel

United States.

By GeneDx

This panel specifically test the OPTN gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Single gene testing OPTN Panel

Germany.

By CeGaT GmbH

This panel specifically test the OPTN gene.

More info about this panel

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

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

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

Amyotrophic lateral sclerosis 12 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the OPTN gene.

More info about this panel

Glaucoma 1, open angle, E Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the OPTN gene.

More info about this panel

Amyotrophic lateral sclerosis 12 Panel

Slovakia.

By MedGene

This panel specifically test the OPTN gene.

More info about this panel

Glaucoma 1, open angle, E Panel

Slovakia.

By MedGene

This panel specifically test the OPTN gene.

More info about this panel

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

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

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

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

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

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

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

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

OPTN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OPTN gene.

More info about this panel

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

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

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

Hereditary glaucoma Panel

Spain.

By Bioarray

This panel specifically test the OPTN gene.

More info about this panel

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

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

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

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

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

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

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

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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