OPA1 gene related symptoms and diseases

All the information presented here about the OPA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to OPA1 gene

Symptoms // Phenotype	% Cases
Sensorineural hearing impairment	Common - Between 50% and 80% cases
Optic atrophy	Common - Between 50% and 80% cases
Hearing impairment	Common - Between 50% and 80% cases
Hyperreflexia	Uncommon - Between 30% and 50% cases
Strabismus	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with OPA1 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Ataxia
Myopathy
Progressive visual loss
Peripheral neuropathy
Rarely - Less than 30% cases
External ophthalmoplegia
Progressive external ophthalmoplegia
Central scotoma
Gait disturbance

And 105 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to OPA1 gene

Here you will find a list of rare diseases related to the OPA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Generalized hypotonia
Hearing impairment
Sensorineural hearing impairment
Feeding difficulties
Skeletal muscle atrophy

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

SOURCES: OMIM

BEHR SYNDROME; BEHRS

Alternate names

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

Description

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

Most common symptoms of BEHR SYNDROME; BEHRS

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about BEHR SYNDROME; BEHRS

SOURCES: ORPHANET OMIM MESH

AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

Alternate names

AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME Is also known as doa+, optic atrophy-deafness-polyneuropathy-myopathy syndrome

Description

Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

Most common symptoms of AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

Strabismus
Sensorineural hearing impairment
Visual impairment
Optic atrophy
Reduced tendon reflexes

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

SOURCES: ORPHANET

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Alternate names

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome, doa+

Description

Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

Most common symptoms of OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Seizures
Hearing impairment
Ataxia
Strabismus
Sensorineural hearing impairment

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

SOURCES: OMIM

AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM

Alternate names

AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM Is also known as autosomal dominant optic atrophy, kjer type, kjer optic atrophy, optic atrophy type 1

Description

Autosomal dominant optic atrophy (ADOA) is one of the most common forms of hereditary optic neuropathy (see this term) characterized by progressive bilateral visual loss during the first decade of life, associated with optic disc pallor, visual field and color vision defects.

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM

SOURCES: ORPHANET

OPTIC ATROPHY 1; OPA1

Alternate names

OPTIC ATROPHY 1; OPA1 Is also known as kjer-type optic atrophy, optic atrophy, kjer type, oak, optic atrophy, juvenile

Description

Autosomal dominant optic atrophy is characterized by an insidious onset of visual impairment in early childhood with moderate to severe loss of visual acuity, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density (Votruba et al., 1998).Some patients with mutations in the OPA1 gene may also develop extraocular neurologic features, such as deafness, progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia; see {125250}. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).Yu-Wai-Man et al. (2009) provided a detailed review of autosomal dominant optic atrophy and Leber hereditary optic neuropathy (LHON ), with emphasis on the selective vulnerability of retinal ganglion cells to mitochondrial dysfunction in both disorders. Genetic Heterogeneity of Optic AtrophyOptic atrophy-2 (OPA2 ) maps to chromosome Xp11.4-p11.21. OPA3 (OMIM ) is caused by mutation in the OPA3 gene (OMIM ) on chromosome 19q13. OPA4 (OMIM ) maps to chromosome 18q12.2-q12.3. OPA5 (OMIM ) is caused by mutation in the DNM1L gene (OMIM ) on chromosome 12p11. OPA6 (OMIM ) maps to chromosome 8q21-q22. OPA7 (OMIM ) is caused by mutation in the TMEM126A gene (OMIM ) on chromosome 11q14. OPA8 (OMIM ) maps to chromosome 16q21-q22. OPA9 (OMIM ) is caused by mutation in the ACO2 gene (OMIM ) on chromosome 22q13; OPA10 (OMIM ) is caused by mutation in the RTN4IP1 gene (OMIM ) on chromosome 6q21; and OPA11 (OMIM ) is caused by mutation in the YME1L1 gene (OMIM ) on chromosome 10p12.

Most common symptoms of OPTIC ATROPHY 1; OPA1

Hearing impairment
Ataxia
Strabismus
Sensorineural hearing impairment
Visual impairment

More info about OPTIC ATROPHY 1; OPA1

SOURCES: ORPHANET 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 OPA1

Potential gene panels for OPA1 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

OPA1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to OPA1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to OPA1 gene

MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

BEHR SYNDROME; BEHRS

Alternate names

Description

Most common symptoms of BEHR SYNDROME; BEHRS

AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Alternate names

Description

Most common symptoms of OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

AUTOSOMAL DOMINANT OPTIC ATROPHY, CLASSIC FORM

Alternate names

Description

OPTIC ATROPHY 1; OPA1

Alternate names

Description

Most common symptoms of OPTIC ATROPHY 1; OPA1

GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

Alternate names

Most common symptoms of GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO

Search interest in OPA1

Potential gene panels for OPA1 gene

MitoMet®Plus aCGH Analysis Panel

OPA1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

OPA1 Deletion/Duplication Analysis Panel

OPA1 Sequence Analysis (Prenatal Diagnosis) Panel

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

PEO Panel (MitomeNGS) Panel

OPA1 DNA Sequencing Test (Related to mtDNA depletion) Panel

Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS) Panel

Optic Atrophy Evaluation (OPA1) Panel

Hearing Loss Advanced Sequencing and CNV Evaluation Panel

Optic Atrophy and Early Glaucoma Panel Panel

Mitochondrial Depletion Panel Panel

OtoSCOPE Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Progressive External Opthalmoplegia Panel

Optic atrophy type 1 Panel

OPA1 Sequencing Panel

OPA1 Deletion/duplication analysis Panel

Ataxia Exome Panel Panel

OPA1 Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

OPA1 mutation analysis Panel

OPA1. Complete sequencing Panel

OPA1. MLPA testing Panel

Optic Atrophy Type 1 (sequence analysis of OPA1 gene) Panel

Optic atrophy 1 (deletion/duplication analysis of OPA1 gene) Panel

Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

OPA1 Sequence Analysis Panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

Autosomal Dominant Optic Atrophy (ADOA) or Optic Atrophy, Kjer-Type (OAK) and DOA Plus Syndrome (DOA+) via OPA1 Gene Sequencing with CNV Detection Panel

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel

Optic Atrophy Sequencing Panel with CNV Detection Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

(Mitochondrial) Optic Atrophy Panel

Optic Atrophy Type 1 Panel

Optic Atrophy Type 1 and Deafness Panel

Eye Diseases - panels Panel

Neurogenetic Disorders - panels Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Hereditary Optic Atrophy Panel

Epilepsy Panel

Optic Atrophy 1 Panel