HGSNAT gene related symptoms and diseases
All the information presented here about the HGSNAT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HGSNAT gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Blindness | Uncommon - Between 30% and 50% cases |
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Rod-cone dystrophy | Uncommon - Between 30% and 50% cases |
| Macular crystals | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with HGSNAT gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Hyperreflexia
- Visual impairment
- Cataract
- Sensorineural hearing impairment
- Nystagmus
- Cone dysfunction syndrome
- Mild hearing impairment
- Optic atrophy
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HGSNAT gene
Here you will find a list of rare diseases related to the HGSNAT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SANFILIPPO SYNDROME TYPE C
Alternate names
SANFILIPPO SYNDROME TYPE C Is also known as mucopolysaccharidosis type iiic, mps3c, mpsiiic, heparan-alpha-glucosaminide n-acetyltransferase deficiency, mucopolysaccharidosis type 3c, hgsnat deficiency
More info about SANFILIPPO SYNDROME TYPE C
SOURCES: ORPHANET
MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
Alternate names
MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c, mps iiic, acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency
Description
Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).
Most common symptoms of MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Hypertelorism
More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C
SOURCES: OMIM
RETINITIS PIGMENTOSA 73; RP73
Most common symptoms of RETINITIS PIGMENTOSA 73; RP73
- Hearing impairment
- Blindness
- Rod-cone dystrophy
- Reduced visual acuity
- Pallor
More info about RETINITIS PIGMENTOSA 73; RP73
SOURCES: OMIM
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
Search interest in HGSNAT
Potential gene panels for HGSNAT gene
MitoMet®Plus aCGH Analysis Panel
United States.
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 United States.
Sanfilippo C syndrome Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the HGSNAT gene.
More info about this panel United States.
Lysosomal Storage Disease Panel Panel
United States.
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 United States.
HGSNAT Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the HGSNAT gene.
More info about this panel Germany.
Lysosomal Storage Disease Panel Panel
Argentina.
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 Argentina.
Mucopolysaccharidosis type IIIC Panel
Czech Republic.
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 HGSNAT gene.
More info about this panel Czech Republic.
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Panel
Netherlands.
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 Netherlands.
HGSNAT. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HGSNAT gene.
More info about this panel Spain.
Mucopolysaccharidosis type IIIC (Sanfilippo C, sequence analysis of HGSNAT gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the HGSNAT gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
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 Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
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 Portugal.
Mucopolysaccharidosis Type III Sequencing Panel with CNV Detection Panel
United States.
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 United States.
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 United States.
Mucopolysaccharidosis Type IIIC / Sanfilippo Syndrome C via HGSNAT Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the HGSNAT gene.
More info about this panel United States.
Mucopolysaccharidosis Deletion / Duplication panel Panel
United States.
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 United States.
Mucopolysaccharidosis Comprehensive panel Panel
United States.
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 United States.
Mucopolysaccharidosis NGS panel Panel
United States.
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 United States.
Mental retardation - different panels Panel
Germany.
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
More info about this panel Germany.
Mental Retardation and Dysmorphology - panels Panel
Germany.
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 Germany.
Syndromal Diseases - panels Panel
Germany.
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 Germany.
Brain Malformations / Neuronal Migration Disorders Panel
Germany.
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 Germany.
Mucopolysaccharidosis panel Panel
Germany.
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 Germany.
AllNeuro panel Panel
Germany.
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 Germany.
Mucopolysaccharidosis type IIIC Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HGSNAT gene.
More info about this panel Germany.
Lysosomal Disorders Panel Panel
Germany.
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 Germany.
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel Germany.
Lysosomal Disorders Panel Panel
Germany.
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 Germany.
Single gene testing HGSNAT Panel
Germany.
By CeGaT GmbH
This panel specifically test the HGSNAT gene.
More info about this panel Germany.
Lysosomal Storage Disease Panel
Estonia.
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 Estonia.
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 United States.
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 United States.
qCarrier Plus Panel
Spain.
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 Spain.
Invitae Comprehensive Mucopolysaccharidoses (MPS) Panel Panel
United States.
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 United States.
Invitae Mucopolysaccharidosis Type III (MPS III) Panel Panel
United States.
By Invitae Invitae Mucopolysaccharidosis Type III (MPS III) Panel that also includes the following genes: SGSH HGSNAT GNS NAGLU
More info about this panel United States.
Invitae Comprehensive Lysosomal Storage Disorders Panel Panel
United States.
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 United States.
Mucopolysaccharidosis Type III: Full Gene Sequencing Panel Panel
United States.
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 United States.
Mucopolysaccharidosis Type III: Gene Deletion/Duplication Panel Panel
United States.
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 United States.
Mucopolysaccharidosis Type IIIC: Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the HGSNAT gene.
More info about this panel United States.
Mucopolysaccharidosis Type IIIC: Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the HGSNAT gene.
More info about this panel United States.
Lysosomal Storage Disorders: Sequencing Panel Panel
United States.
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 United States.
Inherited Metabolic Disorders: Sequencing Panel Panel
United States.
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 panel United States.
Inheritest NGS, Comprehensive Panel
United States.
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 panel United States.
Mucopolysaccharidosis, MPS-III-C Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the HGSNAT gene.
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
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 United States.
Lysosomal Disorders NGS Panel Panel
United States.
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 United States.
Mucopolysaccharidosis NGS Panel Panel
United States.
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 United States.
HGSNAT Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HGSNAT gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
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 United States.
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 Finland.
Lysosomal Disorders and Mucopolysaccharidosis Panel Panel
Finland.
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 Finland.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
Comprehensive Metabolism Panel Panel
Finland.
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 Finland.
Mucopolysaccharidosis type IIIC Panel
Spain.
By Bioarray
This panel specifically test the HGSNAT gene.
More info about this panel Spain.
MUCOPOLYSACCHARIDOSIS TYPE 3C (SANFILIPPO SYNDROME TYP C) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the HGSNAT gene.
More info about this panel Spain.
MUCOPOLYSACCHARIDOSIS – NGS PANEL Panel
Spain.
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 Spain.
RETINITIS PIGMENTOSA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel Spain.
Mucopolysaccharidosis Type IIIC , Sequencing HGSNAT Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HGSNAT gene.
More info about this panel Spain.
Mucopolysaccharidosis , Panel Massive Sequencing (NGS) 11 Genes Panel
Spain.
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 Spain.
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes Panel
Spain.
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 Spain.
Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes Panel
Spain.
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 Spain.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SUCLA2 TSPEAR KANK1 EIF2B2 LAS1L RARB ACSF3