SGSH gene related symptoms and diseases
All the information presented here about the SGSH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SGSH gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Thickened calvaria | Uncommon - Between 30% and 50% cases |
Progressive neurologic deterioration | Uncommon - Between 30% and 50% cases |
Split hand | Uncommon - Between 30% and 50% cases |
Limb ataxia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SGSH gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Recurrent upper respiratory tract infections
- Growth abnormality
- Coarse hair
- Restlessness
- Hirsutism
- Dysostosis multiplex
- Asymmetric septal hypertrophy
- Visceromegaly
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SGSH gene
Here you will find a list of rare diseases related to the SGSH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SANFILIPPO SYNDROME TYPE A
Alternate names
SANFILIPPO SYNDROME TYPE A Is also known as mucopolysaccharidosis type 3a, mucopolysaccharidosis type iiia, mpsiiia, mps3a, heparan sulfamidase deficiency
More info about SANFILIPPO SYNDROME TYPE A
SOURCES: ORPHANET
MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
Alternate names
MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia, sulfamidase deficiency, sanfilippo syndrome a, heparan sulfate sulfatase deficiency
Description
The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival.
Most common symptoms of MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
SOURCES: OMIM
Search interest in SGSH
Potential gene panels for SGSH gene
MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel
GeneAware Complete Panel Version 2 (Female) Panel

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
GeneAware Complete Panel Version 2 (Male) Panel

By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel
Sanfilippo A syndrome Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the SGSH gene.
More info about this panel
Lysosomal 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 panel
Lysosomal 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 panel
Mucopolysaccharidosis type IIIA Panel

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the SGSH gene.
More info about this panel
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) that also includes the following genes: SGSH SLC2A1 SPR NPC2 CBS APTX COQ8A PDSS1 MMAA MMAB
More info about this panel
SGSH. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SGSH gene.
More info about this panel
Mucopolysaccharidosis type IIIA (Sanfilippo A, sequence analysis of SGSH gene) Panel

By CGC Genetics
This panel specifically test the SGSH gene.
More info about this panel
Lysosomal 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 panel
Lysosomal 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 panel
Mucopolysaccharidosis Type III Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Mucopolysaccharidosis Type III Sequencing Panel with CNV Detection that also includes the following genes: SGSH HGSNAT GNS NAGLU
More info about this panel
Mucopolysaccharidosis Type IIIA / Sanfilippo Syndrome A via SGSH Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics
This panel specifically test the SGSH gene.
More info about this panel
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
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Mucopolysaccharidosis 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 panel
Mucopolysaccharidosis 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 panel
Mucopolysaccharidosis 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 panel
Mental retardation - different panels Panel

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
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Mental Retardation and Dysmorphology - panels Panel

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel
Syndromal Diseases - panels Panel

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel
Brain Malformations / Neuronal Migration Disorders Panel

By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panel
Mucopolysaccharidosis type IIIA (Sanfilippo A) (SGSH) Panel

By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the SGSH gene.
More info about this panel
Mucopolysaccharidosis 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 panel
AllNeuro 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 panel
Mucopolysaccharidosis type IIIA Panel

By Centogene AG - the Rare Disease Company
This panel specifically test the SGSH gene.
More info about this panel
Lysosomal 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 panel
Lysosomal 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 panel
Single gene testing SGSH Panel

By CeGaT GmbH
This panel specifically test the SGSH gene.
More info about this panel
Mucopolysaccharidosis type IIIA Panel

By Laboratory of Human Genetics GENOMED Health Care Center
This panel specifically test the SGSH gene.
More info about this panel
Lysosomal 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 panel
SGSH Panel

By Division Human Genetics Medical University Innsbruck
This panel specifically test the SGSH gene.
More info about this panel
qCarrier 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 panel
Invitae 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 panel
Invitae Mucopolysaccharidosis Type III (MPS III) Panel Panel

By Invitae Invitae Mucopolysaccharidosis Type III (MPS III) Panel that also includes the following genes: SGSH HGSNAT GNS NAGLU
More info about this panel
Invitae 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 panel
Invitae Treatable Neurometabolic Disorders Panel Panel

By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel
Sanfilippo syndrome type A: SGSH gene sequence analysis Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SGSH gene.
More info about this panel
Mucopolysaccharidosis Type III: Full Gene Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mucopolysaccharidosis Type III: Full Gene Sequencing Panel that also includes the following genes: SGSH HGSNAT GNS NAGLU
More info about this panel
Mucopolysaccharidosis Type III: Gene Deletion/Duplication Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Mucopolysaccharidosis Type III: Gene Deletion/Duplication Panel that also includes the following genes: SGSH HGSNAT GNS NAGLU
More info about this panel
Mucopolysaccharidosis Type IIIA: SGSH Full Gene Sequencing Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SGSH gene.
More info about this panel
Mucopolysaccharidosis Type IIIA: SGSH Gene Deletion/Duplication Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the SGSH gene.
More info about this panel
Lysosomal 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 panel
Inherited 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
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Pan-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 panel
Inheritest 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
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Mucopolysaccharidosis, MPS-III-A Panel

By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the SGSH gene.
More info about this panel
Epilepsy 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 panel
Lysosomal 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 panel
Intellectual Disability NGS Panel Panel

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel
Mucopolysaccharidosis 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 panel
SGSH Panel

By Fulgent Genetics Fulgent Genetics
This panel specifically test the SGSH gene.
More info about this panel
Comprehensive 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 panel
Lysosomal 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 panel
Comprehensive 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 panel
Mucopolysaccharidosis type IIIA Panel

By Bioarray
This panel specifically test the SGSH gene.
More info about this panel
MUCOPOLYSACCHARIDOSIS TYPE 3A (SANFILIPPO SYNDROME TYPE A) Panel

By Laboratorio de Genetica Clinica SL
This panel specifically test the SGSH gene.
More info about this panel
MUCOPOLYSACCHARIDOSIS – 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 panel
Mucopolysaccharidosis Type IIIA , Sequencing SGSH Gene Panel

By Reference Laboratory Genetics
This panel specifically test the SGSH gene.
More info about this panel
Mucopolysaccharidosis , 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 panel
Peroxisomal 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 panel
Storage 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 panel
Pan-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
More info about this panel
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