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.

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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). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VISee also HMSN6B (OMIM ), caused by mutation in the SLC25A46 gene (OMIM ) on chromosome 5q22.For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (OMIM ).

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

SOURCES: ORPHANET OMIM


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

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

SLC25A46 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SLC25A46 gene.

More info about this panel

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

SLC25A46 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the SLC25A46 gene.

More info about this panel

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

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

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

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

SLC25A46 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SLC25A46 gene.

More info about this panel

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

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

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

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

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


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