SLC52A2 gene related symptoms and diseases
All the information presented here about the SLC52A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC52A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Ataxia | Very Common - Between 80% and 100% cases |
| Bulbar palsy | Common - Between 50% and 80% cases |
| Optic atrophy | Common - Between 50% and 80% cases |
| Aggressive behavior | Common - Between 50% and 80% cases |
| Gait ataxia | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SLC52A2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Sensory neuropathy
- Sensorimotor neuropathy
- Respiratory insufficiency
- Dysphagia
- Nystagmus
- Limb muscle weakness
- Hearing impairment
- Visual impairment
And 75 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC52A2 gene
Here you will find a list of rare diseases related to the SLC52A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RIBOFLAVIN TRANSPORTER DEFICIENCY
Alternate names
RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome, brown-vialetto-van laere syndrome
Description
Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.
Most common symptoms of RIBOFLAVIN TRANSPORTER DEFICIENCY
- Intellectual disability
- Seizures
- Ataxia
- Muscle weakness
- Muscular hypotonia
More info about RIBOFLAVIN TRANSPORTER DEFICIENCY
SOURCES: ORPHANET
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME
Alternate names
AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME Is also known as scabd, scar3, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, autosomal recessive spinocerebellar ataxia type 3, spinocerebellar ataxia with blindness and deafness
Most common symptoms of AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME
- Hearing impairment
- Ataxia
- Nystagmus
- Optic atrophy
- Blindness
More info about AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA-BLINDNESS-DEAFNESS SYNDROME
BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
Description
Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (OMIM ).
Most common symptoms of BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
- Generalized hypotonia
- Hearing impairment
- Scoliosis
- Ataxia
- Nystagmus
More info about BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2
SOURCES: OMIM
Search interest in SLC52A2
Potential gene panels for SLC52A2 gene
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.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Fatty acid metabolism/ketogenesis disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA
More info about this panel United Kingdom.
Fatty acid metabolism/ketogenesis disorders Panel
United Kingdom.
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Fatty acid metabolism/ketogenesis disorders that also includes the following genes: SLC22A5 SLC25A20 SLC52A3 ACAD9 CPT1A CPT1B CPT2 SLC52A2 SLC52A1 ETFA
More info about this panel United Kingdom.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Brown-Vialetto-Van Laere syndrome type 2 (sequence analysis of SLC52A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC52A2 gene.
More info about this panel Portugal.
Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via SLC52A2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC52A2 gene.
More info about this panel United States.
Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST
More info about this panel Germany.
SLC52A2 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SLC52A2 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.
Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel
Germany.
By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3
More info about this panel Germany.
Ataxia Panel
Germany.
By MGZ Medical Genetics Center Ataxia that also includes the following genes: SACS SLC1A3 SLC25A15 SLC2A1 SLC2A10 CACNA1A CACNA1C CACNB4 APTX SLC52A3
More info about this panel Germany.
Spinal Muscular Atrophy, Proximal Motor Neuropathy Panel
Germany.
By MGZ Medical Genetics Center Spinal Muscular Atrophy, Proximal Motor Neuropathy that also includes the following genes: TFG VAPB SLC52A3 MFN2 CLP1 BICD2 TRPV4 LAS1L DYNC1H1 SLC52A2
More info about this panel Germany.
Brown-Vialetto-Van Laere syndrome type 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC52A2 gene.
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.
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.
Invitae Elevated C4 and C5 Panel Panel
United States.
By Invitae Invitae Elevated C4 and C5 Panel that also includes the following genes: SLC52A3 ETHE1 SLC52A2 SLC52A1 ETFA ETFB ETFDH
More info about this panel United States.
Invitae Comprehensive Neuropathies Panel Panel
United States.
By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1
More info about this panel United States.
Invitae Riboflavin Transporter Deficiency Neuronopathy Panel Panel
United States.
By Invitae Invitae Riboflavin Transporter Deficiency Neuronopathy Panel that also includes the following genes: SLC52A3 SLC52A2
More info about this panel United States.
SLC52A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC52A2 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.
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.
Amyotrophic Lateral Sclerosis Panel Panel
Finland.
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
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.
BROWN-VIALETTO-VAN LAERE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL BROWN-VIALETTO-VAN LAERE SYNDROME that also includes the following genes: SLC52A3 SLC52A2
More info about this panel Spain.
SPINOCEREBELLAR ATAXIA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA NGS PANEL that also includes the following genes: SPTBN2 STUB1 TWNK TTPA WWOX CA8 CACNA1A CACNA1G ELOVL4 APTX
More info about this panel Spain.
Riboflavin Transporter Deficiency Neuronopathy: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Riboflavin Transporter Deficiency Neuronopathy: gene sequencing panel that also includes the following genes: SLC52A3 SLC52A2
More info about this panel Canada.
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