ARSB gene related symptoms and diseases
All the information presented here about the ARSB gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARSB gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Recurrent upper respiratory tract infections | Uncommon - Between 30% and 50% cases |
Aseptic necrosis | Uncommon - Between 30% and 50% cases |
Spinal canal stenosis | Uncommon - Between 30% and 50% cases |
Abnormal heart valve morphology | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ARSB gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Metaphyseal irregularity
- Metaphyseal widening
- Epiphyseal dysplasia
- Sleep apnea
- Thoracic kyphosis
- Spastic tetraparesis
- Accelerated skeletal maturation
- Opacification of the corneal stroma
And 60 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARSB gene
Here you will find a list of rare diseases related to the ARSB. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
Alternate names
MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome, mps vi, n-acetylgalactosamine-4-sulfatase deficiency, arsb deficiency, arylsulfatase b deficiency
Description
Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).
Most common symptoms of MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
- Intellectual disability
- Short stature
- Hearing impairment
- Abnormal facial shape
- Flexion contracture
More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6
SOURCES: OMIM
MUCOPOLYSACCHARIDOSIS TYPE 6, RAPIDLY PROGRESSING
Alternate names
MUCOPOLYSACCHARIDOSIS TYPE 6, RAPIDLY PROGRESSING Is also known as mpsvi, rapidly progressing, mps6, rapidly progressing, mucopolysaccharidosis type vi, rapidly progressing, arylsulfatase b deficiency, rapidly progressing
More info about MUCOPOLYSACCHARIDOSIS TYPE 6, RAPIDLY PROGRESSING
SOURCES: ORPHANET
MUCOPOLYSACCHARIDOSIS TYPE 6, SLOWLY PROGRESSING
Alternate names
MUCOPOLYSACCHARIDOSIS TYPE 6, SLOWLY PROGRESSING Is also known as mpsvi, slowly progressing, arylsulfatase b deficiency, slowly progressing, mps6, slowly progressing, mucopolysaccharidosis type vi, slowly progressing
More info about MUCOPOLYSACCHARIDOSIS TYPE 6, SLOWLY PROGRESSING
SOURCES: ORPHANET
Search interest in ARSB
Potential gene panels for ARSB gene
ARSB Familial Mutation/Variant Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARSB gene.
More info about this panelARSB Prenatal Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARSB gene.
More info about this panelARSB Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the ARSB gene.
More info about this panelLysosomal Storage Disease Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 TCF4 MCOLN1 NPC2 ADAMTSL2 DNAJC5 SUMF1 TPP1
More info about this panelMaroteaux-Lamy syndrome Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the ARSB gene.
More info about this panelHearing Loss Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panelLysosomal Storage Disease Panel Panel
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Lysosomal Storage Disease Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelARSB Gene Sequencing Panel
By GeneDx
This panel specifically test the ARSB gene.
More info about this panelARSB. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ARSB gene.
More info about this panelMucopolysaccharidosis type VI (Maroteaux-Lamy, sequence analysis of ARSB gene) Panel
By CGC Genetics
This panel specifically test the ARSB gene.
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelLysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panelMucopolysaccharidosis Type VI / Maroteaux-Lamy Syndrome via ARSB Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ARSB gene.
More info about this panelMucopolysaccharidosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Mucopolysaccharidosis Deletion / Duplication panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panelMucopolysaccharidosis Comprehensive panel Panel
By Connective Tissue Gene Tests Mucopolysaccharidosis Comprehensive panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panelMucopolysaccharidosis NGS panel Panel
By Connective Tissue Gene Tests Mucopolysaccharidosis NGS panel that also includes the following genes: SGSH MCOLN1 GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1
More info about this panelMucopolysaccharidosis panel Panel
By Centogene AG - the Rare Disease Company Mucopolysaccharidosis panel that also includes the following genes: SGSH MYOT LDB3 HGSNAT GALNS GNS GUSB HYAL1 IDS IDUA
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelMucopolysaccharidosis type VI Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ARSB gene.
More info about this panelLysosomal Disorders Panel Panel
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panelLysosomal Disorders Panel Panel
By CeGaT GmbH Lysosomal Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 SUMF1 GNPTG HGSNAT GNPTAB AGA
More info about this panelSingle gene testing ARSB Panel
By CeGaT GmbH
This panel specifically test the ARSB gene.
More info about this panelMucopolysaccharidosis type VI Panel
By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the ARSB gene.
More info about this panelLysosomal Storage Disease Panel
By Asper Biogene Asper Biogene LLC Lysosomal Storage Disease that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelqCarrier Plus Panel
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panelInvitae Comprehensive Mucopolysaccharidoses (MPS) Panel Panel
By Invitae Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel that also includes the following genes: SGSH HGSNAT GALNS GLB1 GNS GUSB HYAL1 IDS IDUA ARSB
More info about this panelInvitae Comprehensive Lysosomal Storage Disorders Panel Panel
By Invitae Invitae Comprehensive Lysosomal Storage Disorders Panel that also includes the following genes: SGSH SLC17A5 SMPD1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3 CLN5
More info about this panelMucopolysaccharidosis type 6: ARSB gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ARSB gene.
More info about this panelMucopolysaccharidosis Type VI (Maroteaux-Lamy): ARSB Full Gene Sequencing Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARSB gene.
More info about this panelMucopolysaccharidosis Type VI (Maroteaux-Lamy): ARSB Gene Deletion/Duplication Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the ARSB gene.
More info about this panelLysosomal Storage Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Lysosomal Storage Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SMPD1 ADAMTS10 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1 CLN3
More info about this panelHearing Loss: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panelInherited Metabolic Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Inherited Metabolic Disorders: Sequencing Panel that also includes the following genes: SGSH SLC17A5 SLC22A5 SLC25A13 SLC25A15 SLC7A7 SMPD1 SUCLG1 TAZ LPIN1
More info about this panelPan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panelHearing Loss: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panelMucopolysaccharidosis type VI Panel
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the ARSB gene.
More info about this panelInheritest NGS, Comprehensive Panel
By Integrated Genetics Westborough Integrated Genetics Inheritest NGS, Comprehensive that also includes the following genes: RMRP BCS1L SACS BLM SGSH SLC12A6 SLC17A5 SLC22A5 SLC26A2 SLC35A3
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelLysosomal Disorders NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Lysosomal Disorders NGS Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MCOLN1 NPC2 ADAMTSL2
More info about this panelMucopolysaccharidosis NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Mucopolysaccharidosis NGS Panel that also includes the following genes: SGSH MYOT LDB3 HGSNAT GALNS GNS GUSB IDS IDUA ARSB
More info about this panelARSB Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARSB gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelLysosomal Disorders and Mucopolysaccharidosis Panel Panel
By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2
More info about this panelComprehensive Metabolism Panel Panel
By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelMucopolysaccharidosis type IV Panel
By Bioarray
This panel specifically test the ARSB gene.
More info about this panelMUCOPOLYSACCHARIDOSIS TYPE 6 ( MAROTEAUX - LAMY SYNDROME) Panel
By Laboratorio de Genetica Clinica SL MUCOPOLYSACCHARIDOSIS TYPE 6 ( MAROTEAUX - LAMY SYNDROME) that also includes the following genes: GNPTAB ARSB
More info about this panelMUCOPOLYSACCHARIDOSIS – NGS PANEL Panel
By Laboratorio de Genetica Clinica SL MUCOPOLYSACCHARIDOSIS – NGS PANEL that also includes the following genes: SGSH GNPTG HGSNAT GNPTAB GALNS GLB1 GNS GUSB HYAL1 IDS
More info about this panelMucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) , Sequencing ARSB Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ARSB gene.
More info about this panelMucopolysaccharidosis , Panel Massive Sequencing (NGS) 11 Genes Panel
By Reference Laboratory Genetics Mucopolysaccharidosis , Panel Massive Sequencing (NGS) 11 Genes that also includes the following genes: SGSH HGSNAT GALNS GLB1 GNS GUSB HYAL1 IDS IDUA ARSB
More info about this panelPeroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
By Reference Laboratory Genetics Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 AGXT2 NPC2 CAT DNAJC5
More info about this panelStorage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
By Reference Laboratory Genetics Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes that also includes the following genes: SCP2 SGSH SLC17A5 SMPD1 ACOX1 MCOLN1 NPC2 DNAJC5 SUMF1 TPP1
More info about this panelPan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
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