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.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Mucopolysaccharidosis type IIIB Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NAGLU gene.

More info about this panel

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

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

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

Single gene testing NAGLU Panel

Germany.

By CeGaT GmbH

This panel specifically test the NAGLU gene.

More info about this panel

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

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

Mucopolysaccharidosis IIIB Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the NAGLU gene.

More info about this panel

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

Mucopolysaccharidosis IIIB Panel

Slovakia.

By MedGene

This panel specifically test the NAGLU gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

NAGLU Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NAGLU gene.

More info about this panel

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

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

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

Mucopolysaccharidosis type IIIB Panel

Spain.

By Bioarray

This panel specifically test the NAGLU gene.

More info about this panel

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

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

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

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

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

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

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

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


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