SLC25A46 gene related symptoms and diseases
All the information presented here about the SLC25A46 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC25A46 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sensory neuropathy | Very Common - Between 80% and 100% cases |
| Skeletal muscle atrophy | Very Common - Between 80% and 100% cases |
| Steppage gait | Very Common - Between 80% and 100% cases |
| Progressive visual loss | Very Common - Between 80% and 100% cases |
| Sensory impairment | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC25A46 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Polyneuropathy
- Distal sensory impairment
- Distal amyotrophy
- Pes cavus
- Hyporeflexia
- Sensorimotor neuropathy
- Visual loss
- Optic atrophy
And 78 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC25A46 gene
Here you will find a list of rare diseases related to the SLC25A46. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B
Alternate names
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib, charcot-marie-tooth disease, type 6b, cmt6b
Description
Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).
Most common symptoms of NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Scoliosis
More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B
SOURCES: OMIM
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6
Alternate names
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6 Is also known as peripheral neuropathy and optic atrophy, charcot-marie-tooth disease, type 6a, cmt6, hmsn via, cmt6a, charcot-marie-tooth disease, type 6, hmsn6, neuropathy, hereditary motor and sensory, type vi, charcot-marie-tooth disease type 6
Description
Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003).
Most common symptoms of HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6
- Hearing impairment
- Scoliosis
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6
Search interest in SLC25A46
Potential gene panels for SLC25A46 gene
SLC25A46 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SLC25A46 gene.
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.
SLC25A46 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SLC25A46 gene.
More info about this panel Germany.
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.
SLC25A46 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SLC25A46 gene.
More info about this panel Germany.
Neurogenetic Disorders - panels Panel
Germany.
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
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.
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.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
SLC25A46 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC25A46 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.
Charcot-Marie-Tooth Neuropathy Panel Panel
Finland.
By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2
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.
Hereditary Motor and Sensory Neuropathy Type VIB , Sequencing SLC25A46 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC25A46 gene.
More info about this panel Spain.
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