NAGLU - N-acetyl-alpha-glucosaminidase Gene

Also Known as NAG; CMT2V; MPS3B; UFHSD; MPS-IIIB

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4669

About NAGLU

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:42,536,241-42,544,449 (from NCBI)

This gene has 5 transcripts (splice variants), 198 orthologues and is associated with 5 phenotypes. Ubiquitous expression in kidney (RPKM 14.8), fat (RPKM 12.3) and 25 other tissues.

Summary

This gene encodes an enzyme that degrades heparan sulfate by hydrolysis of terminal N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. Defects in this gene are the cause of mucopolysaccharidosis type IIIB (MPS-IIIB), also known as Sanfilippo syndrome B. This disease is characterized by the lysosomal accumulation and urinary excretion of heparan sulfate. [provided by RefSeq, Jul 2008]

NAGLU Products (1)

mRNA Protein Name
NM_000263.4 NP_000254.2 alpha-N-acetylglucosaminidase precursor
Cellular Component GO Annotation Evidence References Source
located in extracellular exosome IDA
IDA: Inferred from direct assay
21082674 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NAGLU Protein Structure

NAGLU_N

NAGLU_N: Alpha-N-acetylglucosaminidase (NAGLU) N-terminal domain (29 - 117)

NAGLU

NAGLU: Alpha-N-acetylglucosaminidase (NAGLU) tim-barrel domain (130 - 466)

NAGLU_C

NAGLU_C: Alpha-N-acetylglucosaminidase (NAGLU) C-terminal domain (474 - 734)

  • 0
  • 200
  • 400
  • 600
  • 743 a.a.
Protein Preferred Names Protein Names

alpha-N-acetylglucosaminidase

  • N-acetylglucosaminidase, alpha

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2v
  • CMT2V

  • Charcot-Marie-Tooth Disease Axonal Type 2v

  • Charcot-Marie-Tooth Neuropathy, Type 2v

  • Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v

  • Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v

  • Charcot-Marie-Tooth Neuropathy Type 2v

  • Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation

  • Hereditary Adult-Onset Painful Axonal Polyneuropathy

  • Charcot-Marie-Tooth Disease 2v

Mucopolysaccharidosis, Type Iiib
  • Mucopolysaccharidosis Type Iiib

  • MPS3B

  • Naglu Deficiency

  • Mps Iiib

  • Sanfilippo Syndrome B

  • N-Acetyl-Alpha-D-Glucosaminidase Deficiency

  • Mpsiiib

  • Mucopoly-Saccharidosis Type 3b

  • Mucopolysaccharidosis Type 3b

  • N-Acetyl-Alpha-Glucosaminidase Deficiency

  • Sanfilippo Syndrome Type B

  • Mps Iii B

  • Mps 3b

  • Mps Iii-B

  • Mucopolysaccharidosis 3b

Hypertrichosis
Mucopolysaccharidosis Iii
  • Sanfilippo Syndrome

  • Mucopolysaccharidosis Type Iii

  • Mucopolysaccharidosis Type 3

  • Mps Iii

  • Mpsiii

  • Sanfilippo Disease

  • Heparan Sulfate Sulfatase Deficiency

  • Mucopolysaccharidosis, Mps-Iii

  • N-Sulphoglucosamine Sulphohydrolase Deficiency

  • Naglu Deficiency

  • Sanfilippo'S Syndrome

  • Mucopoly-Saccharidosis Type 3

  • Mps3

  • Sanfilippos Syndrome

  • Mucopolysaccharidosis Type Iiia

  • Mps Iii B

Mucopolysaccharidosis, Type Iiia
  • Mucopolysaccharidosis Type Iiia

  • MPS3A

  • Mps Iiia

  • Sanfilippo Syndrome A

  • Heparan Sulfate Sulfatase Deficiency

  • Sulfamidase Deficiency

  • Heparan Sulfamidase Deficiency

  • Mpsiiia

  • Mucopolysaccharidosis Type 3a

  • Sanfilippo Syndrome Type A

  • Mucopolysaccharidosis Iii-A

  • Heparane Sulfamidase Deficiency

  • Mps 3a

  • Mucopoly-Saccharidosis Type 3a

  • Mps Iii-A

  • Mucopolysaccharidosis 3a

  • Mucopolysaccharidosis Iii

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

Mucopolysaccharidosis-Plus Syndrome
  • Mucopolysaccharidosis

  • Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders

  • MPSPS

  • Mucopolysaccharidoses

  • Mps

  • Mucopolysaccharidosis-Like Plus Disease

  • Disorders Of Glycosaminoglycan Metabolism

Acute Pyelonephritis
  • Apn - [Acute Pyelonephritis]

Kidney Disease
  • Renal Failure

  • Kidney Failure

  • Kidney Diseases

  • Nephropathy

  • Abnormality Of The Kidney

  • Impaired Renal Function Disease

  • Renal Anomaly

  • Kidney Dysfunction

  • Renal Disease

  • Nephropathies

  • Renal Failure Adverse Event

  • Abnormal Renal Function

Mucopolysaccharidosis, Type Iiic
  • Mucopolysaccharidosis Type Iiic

  • MPS3C

  • Mps Iiic

  • Sanfilippo Syndrome C

  • Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Hgsnat Deficiency

  • Mpsiiic

  • Mucopolysaccharidosis Type 3c

  • Sanfilippo Syndrome Type C

  • Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Mucopoly-Saccharidosis Type 3c

  • Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency

  • Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency

  • Mps 3c

  • Mps Iii-C

  • Mucopolysaccharidosis 3c

  • Mucopolysaccharidosis Iii

  • Mps Iii C

Scheie Syndrome
  • Mucopolysaccharidosis Type Is

  • Alpha-L-Iduronidase Deficiency

  • Mucopolysaccharidosis Type I

  • Mucopolysaccharidosis I

  • Hurler-Scheie Syndrome

  • Mucopolysaccharidosis Type 1

  • Mucopolysaccharidosis Is

  • Mucopolysaccharidosis Type 1s

  • Mucopolysaccharidosis Type V

  • Hurler Syndrome

  • Idua Deficiency

  • Mps I

  • MPS1S

  • Mps1-S

  • Mucopolysaccharidosis Type V, Formerly

  • Mps V, Formerly

  • Mps5, Formerly

  • Lipochondrodystrophy

  • Mpsis

  • Mucopolysaccharidosis, Type I

  • Iduronidase Deficiency Disease

  • Mps I - Hurler Syndrome

  • Mucopolysaccharidosis, Mps-I

  • Mucopolysaccharidosis, Type 1

  • Attenuated Mps I

  • Mps 1

  • Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)

  • Severe Mps I

  • Mps I H

  • Mps I H-S

  • Mps I S

  • Mps1

  • Mpsi

  • Mucopolysaccharidosis 1s

  • Mps Is

  • Mps-Is

  • Mps V

  • Mucopolysaccharidosis V

  • Pfaundler-Hurler Syndrome

  • L-Iduronidase Deficiency

  • Dysostosis Multiplex

  • Dysostosis Multiplex Syndrome

  • Gargoylism

  • Mps1 - [Mucopolysaccharidosis Type 1]

Urinary System Disease
  • Abnormality Of The Urinary System

  • Non-Neoplastic Urinary Tract Disease

  • Urinary Tract Disease

  • Urinary Tract Diseases

  • Urinary Tract Anomaly

  • Urologic Diseases

  • Non-Neoplastic Urinary System Disorder

  • Congenital Malformation Of The Urinary System

Urinary Tract Obstruction
  • Obstructive Uropathy

  • Urinary Obstruction

  • Urologic Diseases

Pyelonephritis
Mucopolysaccharidosis, Type Iiid
  • Mucopolysaccharidosis Type Iiid

  • MPS3D

  • Mps Iiid

  • N-Acetylglucosamine-6-Sulfatase Deficiency

  • Sanfilippo Syndrome D

  • Gns Deficiency

  • Mucopolysaccharidosis Type 3d

  • Sanfilippo Syndrome Type D

  • Glucosamine N-Acetyl-6-Sulfatase Deficiency

  • Mpsiiid

  • Mps 3d

  • Mucopoly-Saccharidosis Type 3d

  • N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency

  • Mps Iii-D

  • Mucopolysaccharidosis 3d

  • Sanfilippo D Syndrome

  • Mps Iii D

Nephrolithiasis, Calcium Oxalate
  • Kidney Stones

  • Calculus Of Kidney

  • Kidney Calculi

  • Nephrolithiasis

  • Renal Calculi

  • Calcium Oxalate Urolithiasis

  • CAON

  • Urolithiasis, Calcium Oxalate

  • Calcium Oxalate Nephrolithiasis

  • Kidney Stone

  • Nephrolith

  • Renal Calculus

  • Urinary Stones

  • Renal Stone

  • Calculus, Kidney

  • Calculus, Renal

  • Renal Lithiasis

  • Renal Stones

  • Urolithiasis

  • Renal Calculus Or Stone

  • Stone In Kidney

  • Nephritic Calculus

  • Multiple Kidney Calculi

  • Multiple Kidney Calculus

  • Nephrolithiasis Nos

  • Pelvic Nephrolithiasis

  • Pelviolithiasis

  • Pelvis Nephrolithiasis

Vesicoureteral Reflux
  • Vesico-Ureteral Reflux

Mucopolysaccharidosis, Type Iva
  • Mps Iva

  • Galns Deficiency

  • MPS4A

  • Morquio A Disease

  • Galactosamine-6-Sulfatase Deficiency

  • Morquio Syndrome A

  • Mucopolysaccharidosis Iva

  • Mucopolysaccharidosis Type Iva

  • Mpsiva

  • Morquio Disease Type A

  • Mucopolysaccharidosis Type 4a

  • N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency

  • Morquio Syndrome Type A

  • Mps 4a

  • Morquio Disease, Type A

  • Mucopolysaccharidosis 4a

  • Morquio'S Syndrome A

  • Mps Iv A

  • Mucopolysaccharidosis Iv

  • Mucopolysaccharidosis, Mps-Iv-A

Kluver-Bucy Syndrome
  • Bilateral Temporal Lobe Disorder

  • Klüver-Bucy Syndrome

  • Klver-Bucy Syndrome

  • Kluver Bucy Syndrome

  • Memory Loss, Extreme Sexual Behavior, Placidity, And Visual Distractibility

  • Post-Encephalitic Kluver Bucy Syndrome

  • Post-Traumatic Kluver Bucy Syndrome

Mucopolysaccharidosis, Type Ivb
  • Mucopolysaccharidosis Type Ivb

  • Mps Ivb

  • MPS4B

  • Morquio Syndrome B

  • Beta-D-Galactosidase Deficiency

  • Morquio Disease Type B

  • Mps 4b

  • Mucopolysaccharidosis Type 4b

  • Mpsivb

  • Morquio Disease, Type B

  • Mucopolysaccharidosis Type Iv-B

  • Mucopolysaccharidosis 4b

  • Morquio'S Syndrome B

  • Mps-Ivb

Mucopolysaccharidosis, Type Vii
  • Sly Syndrome

  • Beta-Glucuronidase Deficiency

  • Mucopolysaccharidosis Vii

  • Mucopolysaccharidosis Type Vii

  • MPS7

  • Mps Vii

  • Gusb Deficiency

  • Mucopolysaccharidosis Type 7

  • Mucopolysaccharidosis 7

  • Deficiency Of Beta-Glucuronidase

  • Mps Vii - Sly Syndrome

  • Mps 7

  • Mpsvii

  • Sly Disease

  • Sl

Mucopolysaccharidosis Iv
  • Morquio Syndrome

  • Mucopolysaccharidosis Type 4

  • Mucopolysaccharidosis Type Iv

  • Morquio Disease

  • Galactosamine-6-Sulfatase Deficiency

  • Mps4

  • Mpsiv

  • Morquio-Brailsford Disease

  • Chondroosteodystrophy

  • Deficiency Of Chondroitinsulphatase

  • Deficiency Of N-Acetylgalactosamine-6-Sulphatase

  • Mucopolysaccharidosis, Mps-Iv

  • Osteochondrodystrophy

  • Morquio'S Disease

  • Morquio'S Syndrome

  • Mps Iv

  • Mucopolysaccharidosis Iv

  • Morquios Syndrome

  • Mucopolysaccharidosis, Mps-Iv-A

  • Mucopolysaccharidosis Type Ivb

  • Galns Deficiency

Lipoid Nephrosis
  • Minimal Change Disease

  • Minimal Change Glomerulonephritis

  • Nephrotic Syndrome With Lesion Of Minimal Change Glomerulonephritis

  • Nephrotic Syndrome With Lesion Of Minimal Change Nephrotic Syndrome

  • Idiopathic Minimal Change Nephrotic Syndrome

  • Mcns

  • Minimal Change Glomerulopathy

  • Minimal Change Nephrotic Syndrome

  • Nephrotic Syndrome Minimal Change

  • Nephrosis, Lipoid

  • Glomerulonephritis, Minimal Change

  • Nephrotic Syndrome, Minimal Change

Mucopolysaccharidosis, Type Ii
  • Hunter Syndrome

  • Iduronate 2-Sulfatase Deficiency

  • Mucopolysaccharidosis Ii

  • Mps Ii

  • Mucopolysaccharidosis Type Ii

  • MPS2

  • Sulfoiduronate Sulfatase Deficiency

  • Mucopolysaccharidosis, Mps-Ii

  • Ids Deficiency

  • Sids Deficiency

  • I2s Deficiency

  • Mucopolysaccharidosis Type 2

  • Mucopolysaccharidosis Type 2, Severe Form

  • Deficiency Of Iduronate-2-Sulphatase

  • Hunter'S Syndrome

  • Mps Ii - Hunter Syndrome

  • Iduronate-2-Sulfatase Deficiency

  • Attenuated Mps

  • Mps 2

  • Severe Mps Ii

  • Mpsii

  • Mucopolysaccharidosis Type 2, Attenuated Form

  • Hunter Syndrome Type B

  • Iduronate 2-Sulfatase Deficiency Type B

  • Mps2b

  • Mpsiib

  • Mucopolysaccharidosis Type 2b

  • Mucopolysaccharidosis Type Ii, Attenuated Form

  • Mucopolysaccharidosis Type Iib

  • Hunter Syndrome Type A

  • Iduronate 2-Sulfatase Deficiency Type A

  • Mps2a

  • Mpsiia

  • Mucopolysaccharidosis Type 2a

  • Mucopolysaccharidosis Type Ii, Severe Form

  • Mucopolysaccharidosis Type Iia

  • Mucopolysaccharidosis 2

  • Hunters Syndrome

  • Iduronate 2-Sulphatase Deficiency

  • Iduronate Sulfatase Deficiency

  • Iduronate Sulphatase Deficiency

  • Sulfo-Iduronate Sulfatase Deficiency

  • Sulfoiduronidate Sulfatase Deficiency

  • Sulpho-Iduronate Sulphatase Deficiency

  • Sulphoiduronidate Sulphatase Deficiency

  • Mps2 - [Mucopolysaccharidosis 2]

Mucolipidosis Iii Alpha/Beta
  • Pseudo-Hurler Polydystrophy

  • Mucolipidosis Iii

  • Ml Iii Alpha/Beta

  • Mucolipidosis Iiia

  • Ml Iiia

  • Ml Iii

  • Ml 3 A

  • Ml3

  • Mucolipidosis Type 3a

  • Mucolipidosis Iii, Variant

  • Mucolipidosis Type Iii Alpha/Beta

  • Ml 3 Alpha/Beta

  • Mucolipidosis Type 3 Alpha/Beta

  • Mucolipidosis Type 3

  • Mucolipidosis Type Iii Complementation Group A

  • MLIIIA

  • Cariant Pseudo-Hurler Polydystrophy

  • Mucolipidosis, Type Iii Alpha/Beta

  • Mucolipidosis, Type Iii, Alpha/Beta

Mucopolysaccharidosis, Type Vi
  • Maroteaux-Lamy Syndrome

  • Arylsulfatase B Deficiency

  • Mucopolysaccharidosis Type Vi

  • Mps Vi

  • Mucopolysaccharidosis Vi

  • Mucopolysaccharidosis Type 6

  • MPS6

  • Arsb Deficiency

  • N-Acetylgalactosamine-4-Sulfatase Deficiency

  • Mucopolysaccharidosis 6

  • N-Acetylgalactosamine 4-Sulfatase Deficiency

  • Deficiency Of N-Acetylgalactosamine-4-Sulfatase

  • Maroteaux - Lamy Syndrome

  • Mps Vi - Maroteaux-Lamy Syndrome

  • Mps 6

  • Maroteaux Lamy Syndrome

  • Mucopoly-Saccharidosis Type Vi

  • Polydystrophic Dwarfism

  • Asb Deficiency

  • Mpsvi

  • Maroteaux-Lamy Disease

  • Arsb - [Arylsulfatase B] Deficiency

Microvascular Complications Of Diabetes 3
  • Diabetic Nephropathy

  • Microvascular Complications Of Diabetes, Susceptibility To, 3

  • MVCD3

  • Nephropathy, Diabetic

  • Nephropathy, Diabetic, Susceptibility To

  • End-Stage Renal Disease, Diabetic

  • End-Stage Renal Disease, Diabetic, Susceptibility To

  • Diabetic End-Stage Renal Disease

  • Diabetic Nephropathies

Hepatorenal Syndrome
  • Hepato-Renal Syndrome

  • Hepatorenal Failure

  • Hrf - [Hepatorenal Failure]

  • Hepatorenal Degeneration

  • Hepatic Renal Syndrome

  • Hepatic Renal Failure

  • Renal Hepatic Failure

  • Urohepatic Syndrome

Glycogen Storage Disease
  • Glycogenosis

  • Glycogenoses

  • Gsd

  • Storage Disease, Glycogen

  • Gsd - [Glycogen Storage Disease]

  • Glycogen Thesaurismosis

  • Diffuse Glycogenosis

  • Generalised Glycogen Storage Disease

  • Generalised Glycogenosis

  • Generalised Glycogen Storage Disease Of Infants

  • Glycogen Synthase Deficiency

Hurler Syndrome
  • Mucopolysaccharidosis Ih

  • Mucopolysaccharidosis Type Ih

  • Mps1-H

  • MPS1H

  • Hurler Disease

  • Mpsih

  • Mucopolysaccharidosis Type 1h

  • Alpha-L-Iduronidase Deficiency

  • Dysostosis Multiplex

  • Dysostosis Multiplex Syndrome

  • Gargoylism

  • Hurler Disease Mps Type 1h

  • Hurler-Pfaundler Syndrome

  • L-Iduronidase Deficiency, Hurler Type

  • Mucopolysaccharidosis Type I Severe Form

  • Mucopolysaccharidosis 1h

  • Hurler'S Syndrome

  • Mps Ih

  • Mps-Ih

  • Pfaundler-Hurler Syndrome

  • Mucopolysaccharidosis I

Lowe Oculocerebrorenal Syndrome
  • Lowe Syndrome

  • Oculocerebrorenal Syndrome

  • OCRL

  • Oculocerebrorenal Syndrome Of Lowe

  • Ocrl1

  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

  • Lowe Disease

  • Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

  • Cerebrooculorenal Syndrome

  • Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

  • Lowe Oculo-Cerebro-Renal Dystrophy

  • Lowe Oculo-Cerebro-Renal Syndrome

  • Lowe Oculocerebrorenal Dystrophy

  • Low

  • Chromosome 11p Deletion Syndrome

  • Oculocerebrorenal Dystrophy

  • Cerebro-Oculorenal Dystrophy

  • Ocrl1 - [Oculocerebrorenal Syndrome]

  • Lowe-Terrey-Maclachlan Syndrome

  • Renal-Oculocerebrodystrophy

Hydronephrosis
  • Stricture Of Ureteropelvic Junction With Hydronephrosis

  • Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Mannosidosis, Alpha B, Lysosomal
  • Alpha-Mannosidosis

  • Lysosomal Alpha-D-Mannosidase Deficiency

  • Deficiency Of Alpha-Mannosidase

  • Alpha-Mannosidase B Deficiency

  • Mannosidosis

  • MANSA

  • Mannosidosis, Alpha-, Types I And Ii

  • Alpha-D-Mannosidosis

  • Alpha-Mannosidase Deficiency

  • Α-Mannosidosis

  • Alpha Mannosidase B Deficiency

  • Mannosidosis, Alpha B Lysosomal

  • Lysosomal Alpha B Mannosidosis

  • Alpha-Mannosidosis, Infantile Form

  • Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

  • Alpha-Mannosidosis, Adult Form

  • Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

  • Alpha-Mannosidosis Types I And Ii

  • Mannosidase Deficiency Diseases

Acute Kidney Tubular Necrosis
  • Acute Tubular Necrosis

  • Acute Renal Failure With Tubular Necrosis

  • Acute Tubule Necrosis

  • Acute Renal Failure With Lesion Of Tubular Necrosis

  • Atn - Acute Tubular Necrosis

  • Tubular Necrosis Acute

  • Kidney Tubular Necrosis, Acute

  • Acute Renal Tubular Necrosis

  • Acute Tubular Nephrosis

  • Ischaemic Acute Tubular Necrosis

  • Ischaemic Tubular Necrosis

  • Kidney Tubular Necrosis

  • Lower Nephron Nephrosis

  • Necrotising Renal Oedema

  • Renal Tubular Necrosis

  • Toxic Tubular Necrosis

  • Tubular Kidney Necrosis

  • Tubular Necrosis Nos

  • Tubular Nephrosis

Gangliosidosis
  • Gangliosidoses

Gm1 Gangliosidosis
  • Beta-Galactosidase Deficiency

  • Gangliosidosis Gm1

  • Deficiency Of Beta-Galactosidase

  • Beta Galactosidase 1 Deficiency

  • Beta-Galactosidosis

  • Glb 1 Deficiency

  • Beta-Galactosidase-1 Deficiency

  • Beta-Galactosidase-1 Deficiency

  • Glb1 Deficiency

  • Landing Disease

  • Gangliosidosis, Gm1

Sandhoff Disease
  • Total Hexosaminidase Deficiency

  • Hexosaminidases A And B Deficiency

  • Sandhoff Disease, Infantile, Juvenile, And Adult Forms

  • Beta-Hexosaminidase-Beta-Subunit Deficiency

  • Gm2 Gangliosidosis, Type 2

  • Hexosaminidase A And B Deficiency Disease

  • Sandhoff-Jatzkewitz-Pilz Disease

  • Gm2 Gangliosidosis, Type Ii

  • Sandhoff Disease, Infantile Form

  • Sandhoff Disease, Adult Form

  • Sandhoff Disease, Juvenile Form

  • Gm2-Gangliosidosis, Type Ii

  • Sandhoff Jatzkewitz Disease

  • Type Ii Gm2 Gangliosidosis

  • Gm2 Gangliosidosis, 0 Variant

  • Gm2 Gangliosidosis 0 Variant

  • Hexosaminidases A And B Deficiency, Infantile Form

  • Infantile Gm2 Gangliosidosis 0 Variant

  • Adult Gm2 Gangliosidosis 0 Variant

  • Hexosaminidases A And B Deficiency, Adult Form

  • Hexosaminidases A And B Deficiency, Juvenile Form

  • Juvenile Gm2 Gangliosidosis 0 Variant

  • Gm2-Gangliosidosis 2

  • GM2G2

  • Hexosaminidase A And B Deficiency

  • Sd

Nephrotic Syndrome
  • Finnish Congenital Nephrotic Syndrome

  • Ns - [Nephrotic Syndrome]

  • Nephrosis Syndrome

  • Nephrosis Nos

  • Glomerular Lesion Nephrosis

Fucosidosis
  • Alpha-L-Fucosidase Deficiency

  • Fucosidase Deficiency Disease

  • A-Fucosidase Deficiency

  • Alpha Fucosidase Deficiency

  • Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues

  • Alpha-Fucosidase Deficiency

  • Fucosidase Deficiency

  • FUCA1D

Hurler-Scheie Syndrome
  • Mucopolysaccharidosis Type Ih/S

  • Mucopolysaccharidosis Ih/S

  • MPS1H/S

  • Mpsih/S

  • Mucopolysaccharidosis Type 1h/S

  • Mps1-Hs

  • Alpha-L-Iduronidase Deficiency

  • Mucopolysaccharidosis I

  • Mucopolysaccharidosis 1h/S

  • Mps-Ih/S

Krabbe Disease
  • Globoid Cell Leukodystrophy

  • Galactosylceramide Beta-Galactosidase Deficiency

  • Galc Deficiency

  • Galactocerebrosidase Deficiency

  • GLD

  • Globoid Cell Leukoencephalopathy

  • Diffuse Globoid Body Sclerosis

  • Gcl

  • Leukodystrophy, Globoid Cell

  • Krabbe'S Leukodystrophy

  • Krabbe Leukodystrophy

  • KRB

  • Beta Galactocerebrosidase Deficiency

  • Krabbe'S Disease

  • Galactosylceramidase Deficiency Disease

  • Galactosylceramide Lipidosis

  • Galactosylcerebrosidase Deficiency

  • Galactosylsphingosine Lipidosis

  • Psychosine Lipidosis

  • Galactosylceramidase Deficiency

  • Infantile Globoid Cell Leukodystrophy

  • Krabbe Brain Sclerosis

Type 1 Diabetes Mellitus
  • Diabetes Mellitus, Insulin-Dependent

  • Diabetes Mellitus Type 1

  • IDDM

  • Type 1 Diabetes

  • Insulin-Dependent Diabetes Mellitus

  • T1D

  • Juvenile-Onset Diabetes

  • Jod

  • Diabetes Mellitus, Type 1

  • Diabetes Mellitus, Insulin-Dependent-1

  • Type I Diabetes Mellitus

  • Autoimmune Diabetes

  • Juvenile Diabetes

  • Juvenile-Onset Diabetes Mellitus

  • Diabetes, Insulin Dependent

  • Insulin-Dependent Diabetes Mellitus-1

  • Diabetes Mellitus Insulin-Dependent

  • Diabetes Autoimmune

  • Diabetes Mellitus, Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 1, Susceptibility To

  • Diabetes Type 1

  • Type I Diabetes

  • Diabetes, Autoimmune

  • T1dm - [Type 1 Diabetes Mellitus]

  • Iddm - [Insulin Dependent Diabetes Mellitus]

  • Type 1 Iddm

  • Juvenile Diabetes Mellitus Without Compications

  • Idiopathic Insulin-Dependent Diabetes Mellitus Without Complications

  • Juvenile-Onset Diabetes Mellitus Without Compications

  • Ketosis-Prone Diabetes Mellitus Without Compications

  • Juvenile-Onset-Type Diabetes Mellitus Without Compications

Fanconi Syndrome
  • Infantile Nephropathic Cystinosis

  • Adult Fanconi Syndrome

  • Congenital Fanconi Syndrome

  • De Toni-Fanconi Syndrome

  • Fanconi-De Toni Syndrome

  • Lignac-Fanconi Syndrome

  • Fanconi Renotubular Syndrome

  • Primary Fanconi Renotubular Syndrome

  • De Toni-Debre-Fanconi Syndrome

  • Adult Fanconi Anemia

  • Detoni Fanconi Syndrome

  • Fanconi-De-Toni Syndrome

  • Primary Fanconi Syndrome

  • Detoni-Debre-Fanconi Syndrome

  • Primary Fanconi Renal Syndrome

  • Fanconi Anemia

  • Cystinosis, Infantile Nephropathic

  • Fanconi-Bickel Syndrome

  • Renal Fanconi Syndrome

  • Lowe-Bickel Syndrome

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

Galactosialidosis
  • Goldberg Syndrome

  • Neuraminidase Deficiency With Beta-Galactosidase Deficiency

  • Ppca Deficiency

  • GSL

  • Lysosomal Protective Protein Deficiency

  • Cathepsin A Deficiency

  • Neuraminidase/Beta-Galactosidase Expression

  • Protective Protein/Cathepsin A Deficiency

  • Ngbe

  • Cathepsin A Deficiency Of

  • Lysosomal Protective Protein Deficiency Of

  • Deficiency Of Cathepsin A

  • Neuraminidase Beta-Galactosidase Deficiency

  • Protective Protein Cathepsin A Deficiency

Mucolipidosis
Ceroid Lipofuscinosis, Neuronal, 3
  • Batten Disease

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Neuronal Ceroid Lipofuscinosis 3

  • CLN3

  • Jncl

  • Spielmeyer-Vogt Disease

  • Vogt-Spielmeyer Disease

  • Spielmeyer-Sjogren Disease

  • Cln3 Disease

  • Neuronal Ceroid Lipofuscinosis, Juvenile

  • Cln3 Disease, Juvenile

  • Spielmeyer Sjogren Disease

  • Vogt Spielmeyer Disease

  • Batten-Mayou Disease

  • Batten-Spielmeyer-Vogt Disease

  • Cln3-Related Neuronal Ceroid-Lipofuscinosis

  • Juvenile Batten Disease

  • Juvenile Cerebroretinal Degeneration

  • Classic Juvenile Ncl

  • Classic Juvenile Neuronal Ceroid Lipofuscinosis

  • Juvenile Ncl

  • Lipofuscinosis, Ceroid, Neuronal, Type 3

Canavan Disease
  • Aspartoacylase Deficiency

  • Aminoacylase 2 Deficiency

  • Spongy Degeneration Of Central Nervous System

  • Aspa Deficiency

  • Acy2 Deficiency

  • Canavan-Van Bogaert-Bertrand Disease

  • Mild Canavan Disease

  • Asp Deficiency

  • Spongy Degeneration Of The Central Nervous System

  • Severe Canavan Disease

  • Von Bogaert-Bertrand Disease

  • Canavan'S Disease

  • Spongy Degeneration Of The Brain

  • Juvenile Canavan Disease

  • Infantile Canavan Disease

  • Neonatal Canavan Disease

  • CAND

  • Disease, Canavan

  • Canavan Disease, Juvenile

  • Canavan Disease, Infantile

  • Canavan Disease, Neonatal

Neuronal Ceroid Lipofuscinosis
  • Hereditary Ceroid Lipofuscinosis

  • Batten Disease

  • Ncl

  • Neuronal Ceroid-Lipofuscinoses

  • Lipofuscinosis, Ceroid, Neuronal

  • Juvenile Neuronal Ceroid Lipofuscinosis

  • Cerebromacular Dystrophy

  • Cerebromacular Degeneration

  • Ceroid-Lipofuscinosis

  • Ncl - [Neuronal Ceroid Lipofuscinosis]

  • Amaurotic Familial Idiocy

  • Amaurotic Idiocy

  • Amaurotic Idiot

  • Neuronal Lipofuscinosis

  • Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Niemann-Pick Disease, Type A
  • Niemann-Pick Disease Type A

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

  • Acid Sphingomyelinase Deficiency, Neurovisceral Type

  • Asmd, Neurovisceral Type

  • Infantile Neurovisceral Acid Sphingomyelinase Deficiency

  • Infantile Neurovisceral Asmd

  • Npd-A

  • Niemann-Pick Disease A

  • NPDA

  • Classical Niemann-Pick Disease

  • Niemann-Pick Disease Acute Neuronopathic Form

  • Niemann-Pick Disease Acute Neurovisceral Form

  • Niemann-Pick Disease Classical Infantile Form

  • Niemann-Pick Disease Intermediate Protracted Neurovisceral

  • Niemann-Pick Disease Neuronopathic Type

  • Niemann-Pick Disease Type I

  • Npa

  • Niemann-Pick Diseases

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Metachromatic Leukodystrophy
  • Arylsulfatase A Deficiency

  • MLD

  • Arsa Deficiency

  • Sulfatide Lipidosis

  • Metachromatic Leukoencephalopathy

  • Cerebral Sclerosis, Diffuse, Metachromatic Form

  • Cerebroside Sulfatase Deficiency

  • Leukodystrophy, Metachromatic

  • Pseudoarylsulfatase A Deficiency

  • Leukodystrophy Metachromatic

  • Sulfatidosis

  • Metachromatic Leukodystrophy, Late Infantile

  • Metachromatic Leukodystrophy Variant

  • Deficiency Of Cerebroside-Sulfatase

  • Scholz Cerebral Sclerosis

  • Sulfatide Lipoidosis

  • Cerebral Sclerosis Diffuse Metachromatic Form

  • Arylsulfatase A Deficiency Disease

  • Cerebroside Sulphatase Deficiency Disease

  • Greenfield Disease

  • Metachromatic Leukodystrophy, Adult

  • Metachromatic Leukodystrophy, Juvenile

  • Leukodystrophy Metachromatic Adult

  • Leukodystrophy Metachromatic Juvenile

  • Leukodystrophy Metachromatic Late Infantile

  • Metachromatic Leukodystrophy, Adult Type

  • Metachromatic Leukodystrophy, Juvenile Type

  • Metachromatic Leukodystrophy, Infant

  • Greenfield'S Disease

Sphingolipidosis
  • Sphingolipidoses

Tay-Sachs Disease
  • Hexosaminidase A Deficiency

  • TSD

  • Hexa Deficiency

  • Gm2 Gangliosidosis, Type 1

  • Hexosaminidase Alpha-Subunit Deficiency

  • Gm2-Gangliosidosis, Several Forms

  • Gm2-Gangliosidosis, B, B1, Ab Variant

  • B Variant Gm2 Gangliosidosis

  • Sphingolipidosis, Tay-Sachs

  • Gm2-Gangliosidosis, Type I

  • B Variant Gm2-Gangliosidosis

  • Hex A Pseudodeficiency

  • Hexa Disorders

  • Beta-Hexosaminidase A Deficiency

  • Gm2 Gangliosidosis, Type I

  • Gangliosidosis Gm2 , Type 1

  • Gm2 Gangliosidosis, B, B1 Variant

  • Gm2-Gangliosidosis 1

  • GM2G1

  • Gm2-Gangliosidosis B Variant

  • Tay-Sachs Disease Pseudo-Ab Variant

  • Tay-Sachs Disease Variant B1

  • Gangliosidoses, Gm2

Gaucher'S Disease
  • Gaucher Disease

  • Kerasin Thesaurismosis

  • Glucocerebrosidase Deficiency

  • Glucosylceramidase Deficiency

  • Cerebroside Lipidosis Syndrome

  • Acid Beta-Glucosidase Deficiency

  • Glucosylceramide Beta-Glucosidase Deficiency

  • Acute Cerebral Gaucher Disease

  • Gaucher Splenomegaly

  • Glucocerebrosidosis

  • Glucosyl Cerebroside Lipidosis

  • Kerasin Lipoidosis

  • Lipoid Histiocytosis

  • Glocucerebrosidase Deficiency

  • Sphingolipidosis 1

  • Gaucher Syndrome

  • Gauchers Disease

  • Gd

  • Glucosylceramide Lipidosis

  • Kerasin Histiocytosis

  • Gaucher Disease, Type 1

  • Gaucher Disease, Type 2

Type 2 Diabetes Mellitus
  • Insulin Resistance

  • NIDDM

  • Type 2 Diabetes

  • Diabetes Mellitus, Non-Insulin-Dependent

  • T2D

  • Noninsulin-Dependent Diabetes Mellitus

  • Diabetes Mellitus, Type Ii

  • Maturity-Onset Diabetes

  • Insulin Resistance, Severe, Digenic

  • Diabetes Mellitus, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent

  • Diabetes Mellitus, Noninsulin-Dependent, Association With

  • Diabetes Mellitus, Noninsulin-Dependent, Late Onset

  • Hypertension, Insulin Resistance-Related, Susceptibility To

  • Insulin Resistance, Susceptibility To

  • Non-Insulin-Dependent Diabetes Mellitus

  • Type Ii Diabetes Mellitus

  • Adult-Onset Diabetes Mellitus

  • Maturity-Onset Diabetes Mellitus

  • Diabetes Mellitus Type 2

  • Type Ii Diabetes

  • Type 2 Diabetes Mellitus, Susceptibility To

  • Diabetes, Type 2

  • Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

  • Diabetes Mellitus, Type 2, Susceptibility To

  • Diabetes Mellitus, Noninsulin-Dependent, 2

  • Diabetes Mellitus, Type Ii, Susceptibility To

  • Hypertension, Insulin Resistance-Related

  • Adult-Onset Diabetes

  • Aodm

  • Diabetes Mellitus, Adult-Onset

  • Diabetes Mellitus Type Ii

  • Diabetes Mellitus Type 2, Susceptibility To

  • Diabetes, Type Ii, Susceptibility To

  • Diabetes Type 2

  • Diabetes Mellitus

  • Adult Onset Diabetes

  • Maturity Onset Diabetes

  • Nonketotic Diabetes

  • Non-Insulin Dependent Diabetes Mellitus

  • T2dm - [Type 2 Diabetes Mellitus]

  • Niddm - [Non Insulin Dependent Diabetes Mellitus]

  • Dm2

  • Dm Type Ii

  • Diabetic Type 2

  • Insulin Requiring Type 2 Diabetes

  • Noninsulin Dependent Diabetes

  • Non-Insulin-Dependent Diabetes Mellitus Without Complications

  • Diabetes Due To Insulin Secretory Defect

  • Diabetes Mellitus Due To Insulin Secretory Defect

  • Non-Insulin-Dependent Diabetes Of The Young

  • Senile Diabetes

  • Nonketotic Hyperglycaemia

  • Stable Diabetes

Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus NAGLU RGD RGD:1564228
Felis catus NAGLU VGNC VGNC:68411
Mus musculus NAGLU MGD MGI:1351641
Macaca mulatta NAGLU VGNC VGNC:75127
Bos taurus NAGLU VGNC VGNC:31869
Canis familiaris NAGLU VGNC VGNC:43609
Others NAGLU NCBI