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
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
Search interest in FDXR
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 United States.
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 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.
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 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.
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