FDXR gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to FDXR gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Nystagmus Very Common - Between 80% and 100% cases
Delayed speech and language development Very Common - Between 80% and 100% cases
Visual impairment Very Common - Between 80% and 100% cases
Peripheral neuropathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FDXR gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Optic atrophy
  • Rod-cone dystrophy
  • Pallor
  • Ophthalmoplegia
  • Optic disc pallor
  • Papilledema
  • Total ophthalmoplegia
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Rare diseases associated to FDXR gene

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


AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA


Description

ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017).

Most common symptoms of AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA

  • Hearing impairment
  • Nystagmus
  • Delayed speech and language development
  • Visual impairment
  • Peripheral neuropathy


More info about AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA

SOURCES: OMIM


Potential gene panels for FDXR gene

FDXR Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FDXR gene.

More info about this panel

Comprehensive Hearing Loss and Deafness Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10

More info about this panel

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

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

Syndromic Hearing Loss Panel Panel

Finland.

By Blueprint Genetics Syndromic Hearing Loss Panel that also includes the following genes: BCS1L SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SOX10 BTD TWNK

More info about this panel

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

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


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