ACO2 gene related symptoms and diseases

All the information presented here about the ACO2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ACO2 gene

Symptoms // Phenotype % Cases
Optic atrophy Common - Between 50% and 80% cases
Pallor Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Abnormality of eye movement Uncommon - Between 30% and 50% cases
Retinal degeneration Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ACO2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Retinal dystrophy
  • Metabolic acidosis
  • Generalized-onset seizure
  • Progressive microcephaly
  • Bradycardia
  • Increased body weight
  • Progressive hearing impairment
  • Athetosis

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ACO2 gene

Here you will find a list of rare diseases related to the ACO2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INFANTILE CEREBELLAR-RETINAL DEGENERATION

Description

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Most common symptoms of INFANTILE CEREBELLAR-RETINAL DEGENERATION

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

SOURCES: OMIM ORPHANET

OPTIC ATROPHY 9; OPA9

Most common symptoms of OPTIC ATROPHY 9; OPA9

  • Peripheral neuropathy
  • Optic atrophy
  • Reduced visual acuity
  • Pallor
  • Scotoma


More info about OPTIC ATROPHY 9; OPA9

SOURCES: OMIM

AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY

Alternate names

AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY Is also known as autosomal recessive non-syndromic optic atrophy


More info about AUTOSOMAL RECESSIVE ISOLATED OPTIC ATROPHY

SOURCES: ORPHANET


Potential gene panels for ACO2 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.

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.

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel
United States.

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

Portugal.

By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3

More info about this panel
Portugal.

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

Portugal.

By CGC Genetics Hereditary optic neuropathy, including Leber's hereditary optic neuropathy (NGS panel of 5 genes and 3 frequent mutations on mt DNA) that also includes the following genes: ACO2 RTN4IP1 TMEM126A MT-ND1 MT-ND4 MT-ND6 OPA1 OPA3

More info about this panel
Portugal.

Infantile Cerebellar-Retinal Degeneration the ACO2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ACO2 gene.

More info about this panel
United States.

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

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

Optic Atrophy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Optic Atrophy Sequencing Panel with CNV Detection that also includes the following genes: SLC24A1 SPG7 ACO2 TIMM8A WFS1 MFN2 CISD2 TMEM126A MTPAP C12orf65

More info about this panel
United States.

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Comprehensive mitochondrial disorders panel Panel

Germany.

By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC

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.

Optic atrophy type 9 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACO2 gene.

More info about this panel
Germany.

Cerebellar-retinal degeneration, infantile Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ACO2 gene.

More info about this panel
Germany.

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel
Germany.

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel
Germany.

Optic Atrophy Panel Panel

Germany.

By CeGaT GmbH Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A VAX2 WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A

More info about this panel
Germany.

Spinocerebellar Ataxia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Spinocerebellar Ataxia that also includes the following genes: SACS SLC9A1 SLC9A6 SPTBN2 STUB1 TWNK ACO2 TTPA WFS1 WWOX

More info about this panel
Estonia.

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel
United States.

TCA Cycle NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics TCA Cycle NGS Panel that also includes the following genes: SUCLA2 SUCLG1 ACO2 PDHX DLAT FH IDH1 IDH2 IDH3B MDH1

More info about this panel
United States.

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel
United States.

ACO2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ACO2 gene.

More info about this panel
United States.

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel
Finland.

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel
Finland.

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel
Finland.

Optic Atrophy Panel Panel

Finland.

By Blueprint Genetics Optic Atrophy Panel that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 SNX10 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A

More info about this panel
Finland.

OPTIC ATROPHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL OPTIC ATROPHY NGS PANEL that also includes the following genes: SPG7 ACO2 TIMM8A WFS1 MFN2 RTN4IP1 CISD2 SLC25A46 TMEM126A C12orf65

More info about this panel
Spain.

Optic Atrophy , Panel Massive Sequencing 4 Genes Panel

Spain.

By Reference Laboratory Genetics Optic Atrophy , Panel Massive Sequencing 4 Genes that also includes the following genes: ACO2 TMEM126A OPA1 OPA3

More info about this panel
Spain.

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