NAGLU gene related symptoms and diseases
All the information presented here about the NAGLU gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NAGLU gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Peripheral neuropathy | Common - Between 50% and 80% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Ovoid thoracolumbar vertebrae | Uncommon - Between 30% and 50% cases |
| Limb ataxia | Uncommon - Between 30% and 50% cases |
| Recurrent upper respiratory tract infections | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NAGLU gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Coarse hair
- Protuberant abdomen
- Dysostosis multiplex
- Asymmetric septal hypertrophy
- Heparan sulfate excretion in urine
- Thickened ribs
- Pain
- Dense calvaria
And 33 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NAGLU gene
Here you will find a list of rare diseases related to the NAGLU. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SANFILIPPO SYNDROME TYPE B
Alternate names
SANFILIPPO SYNDROME TYPE B Is also known as mps3b, n-acetyl-alpha-glucosaminidase deficiency, mpsiiib, mucopolysaccharidosis type 3b, mucopolysaccharidosis type iiib
More info about SANFILIPPO SYNDROME TYPE B
SOURCES: ORPHANET
MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
Alternate names
MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b, mps iiib, n-acetyl-alpha-d-glucosaminidase deficiency, naglu deficiency
Description
Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).
Most common symptoms of MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Ataxia
More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B
SOURCES: OMIM
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V
Alternate names
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V Is also known as hereditary adult-onset painful axonal polyneuropathy, autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation, charcot-marie-tooth disease, axonal, autosomal dominant, type 2v, charcot-marie-tooth neuropathy, type 2v, cmt2v
Most common symptoms of AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V
- Pain
- Peripheral neuropathy
- Areflexia
- Hyporeflexia
- Paresthesia
More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2V
Search interest in NAGLU
Potential gene panels for NAGLU 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 B syndrome Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the NAGLU 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.
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.
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.
NAGLU. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NAGLU gene.
More info about this panel Spain.
Mucopolysaccharidosis type IIIB (Sanfilippo B, sequence analysis of NAGLU gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NAGLU 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.
Mucopolysaccharidosis Type IIIB / Sanfilippo Syndrome B via NAGLU Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NAGLU 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.
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 IIIB Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NAGLU 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.
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.
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.
Single gene testing NAGLU Panel
Germany.
By CeGaT GmbH
This panel specifically test the NAGLU gene.
More info about this panel Germany.
Charcot-Marie-Tooth Disease Panel
Estonia.
By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7
More info about this panel Estonia.
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.
Mucopolysaccharidosis IIIB Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the NAGLU gene.
More info about this panel Austria.
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.
Mucopolysaccharidosis IIIB Panel
Slovakia.
By MedGene
This panel specifically test the NAGLU gene.
More info about this panel Slovakia.
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.
Sanfilippo syndrome type B: NAGLU gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NAGLU gene.
More info about this panel Spain.
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 IIIB: NAGLU Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NAGLU gene.
More info about this panel United States.
Mucopolysaccharidosis Type IIIB: NAGLU Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the NAGLU 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.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
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 United States.
Mucopolysaccharidosis, MPS-III-B Panel
United States.
By Integrated Genetics Westborough Integrated Genetics
This panel specifically test the NAGLU gene.
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.
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.
NAGLU Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NAGLU 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.
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.
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 IIIB Panel
Spain.
By Bioarray
This panel specifically test the NAGLU gene.
More info about this panel Spain.
MUCOPOLYSACCHARIDOSIS TYPE 3B (SANFILIPPO SYNDROME TYP B) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the NAGLU 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.
Sanfilippo Type B Syndrome, Sequencing NAGLU Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NAGLU 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.
Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel
Spain.
By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GDAP1 KIF1B MFN2 TRPV4 AARS LRSAM1 MED25 DYNC1H1 DNM2 HSPB8
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.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
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 Canada.
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