SLC52A3 gene related symptoms and diseases
All the information presented here about the SLC52A3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC52A3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Bulbar palsy | Very Common - Between 80% and 100% cases |
| Ptosis | Very Common - Between 80% and 100% cases |
| Facial palsy | Very Common - Between 80% and 100% cases |
| Respiratory insufficiency | Very Common - Between 80% and 100% cases |
| Dysphagia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC52A3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Muscle weakness
- Muscular hypotonia
- Hyperreflexia
- Hearing impairment
- Oral-pharyngeal dysphagia
- Ataxia
- Sensorineural hearing impairment
- Stridor
And 70 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC52A3 gene
Here you will find a list of rare diseases related to the SLC52A3. 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
BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
Alternate names
BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 Is also known as bulbar palsy, progressive, with sensorineural deafness, pontobulbar palsy with deafness
Description
Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS ). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010).
Most common symptoms of BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
- Generalized hypotonia
- Hearing impairment
- Scoliosis
- Ataxia
- Sensorineural hearing impairment
More info about BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1
SOURCES: OMIM
FAZIO-LONDE DISEASE
Alternate names
FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood
Description
Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).
Most common symptoms of FAZIO-LONDE DISEASE
- Generalized hypotonia
- Hearing impairment
- Failure to thrive
- Sensorineural hearing impairment
- Muscle weakness
More info about FAZIO-LONDE DISEASE
SOURCES: OMIM
Search interest in SLC52A3
Potential gene panels for SLC52A3 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 1 (sequence analysis of SLC52A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC52A3 gene.
More info about this panel Portugal.
Fazio-Londe disease (sequence analysis of SLC52A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC52A3 gene.
More info about this panel Portugal.
Fazio-Londe disease (deletion/duplication analysis of SLC52A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC52A3 gene.
More info about this panel Portugal.
Fazio-Londe disease (deletion/duplication analysis of SLC52A3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC52A3 gene.
More info about this panel Portugal.
Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via SLC52A3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC52A3 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.
SLC52A3 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the SLC52A3 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.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
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.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
Brown-Vialetto-Van Laere syndrome 1 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC52A3 gene.
More info about this panel Austria.
Fazio-Londe Disease Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the SLC52A3 gene.
More info about this panel Austria.
Brown-Vialetto-Van Laere syndrome 1 Panel
Slovakia.
By MedGene
This panel specifically test the SLC52A3 gene.
More info about this panel Slovakia.
Fazio-Londe Disease Panel
Slovakia.
By MedGene
This panel specifically test the SLC52A3 gene.
More info about this panel Slovakia.
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.
SLC52A3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC52A3 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.
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.
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.
FAZIO-LONDE SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC52A3 gene.
More info about this panel Spain.
Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel
Spain.
By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B
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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