IDUA - alpha-L-iduronidase Gene

Also Known as IDA; MPS1; MPSI

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3425

About IDUA

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:986,997-1,008,351 (from NCBI)

This gene has 13 transcripts (splice variants), 194 orthologues and is associated with 7 phenotypes. Ubiquitous expression in spleen (RPKM 4.2), stomach (RPKM 4.1) and 25 other tissues.

Summary

This gene encodes an enzyme that hydrolyzes the terminal alpha-L-iduronic acid residues of two glycosaminoglycans, dermatan sulfate and heparan sulfate. This hydrolysis is required for the lysosomal degradation of these glycosaminoglycans. Mutations in this gene that result in enzymatic deficiency lead to the autosomal recessive disease mucopolysaccharidosis type I (MPS I). [provided by RefSeq, Jul 2008]

IDUA Products (2)

mRNA Protein Name
NM_000203.5 NP_000194.2 alpha-L-iduronidase isoform a precursor
NM_001363576.1 NP_001350505.1 alpha-L-iduronidase isoform b
Molecular Function GO Annotation Evidence References Source
enables L-iduronidase activity IDA
IDA: Inferred from direct assay
24036510 GOA
Biological Process GO Annotation Evidence References Source
involved in dermatan sulfate catabolic process IDA
IDA: Inferred from direct assay
24036510 GOA
acts upstream of or within heparin catabolic process IMP
IMP: Inferred from mutant phenotype
21873421 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

IDUA Protein Structure

Glyco_hydro_39

Glyco_hydro_39: Glycosyl hydrolases family 39 (26 - 543)

  • 0
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  • 600
  • 653 a.a.
Protein Preferred Names Protein Names

alpha-L-iduronidase

  • iduronidase alpha-L-

Recombinant IDUA Proteins

Cat. No. Product Name Accession Purity
HY-P72242 IDUA Protein, Human (His) P35475-1 (A28-P653) ≥ 90%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
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

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]

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

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

Mucopolysaccharidoses
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

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

Lysosomal Storage Disease
  • Lysosomal Storage Diseases

  • Disorder Of Lysosomal Enzyme

  • Inborn Lysosomal Enzyme Disorder

  • Lysosomal Storage Metabolism Disorder

  • Lysosomal Storage Disorder

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

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

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

Glycogen Storage Disease Ii
  • Pompe Disease

  • Glycogen Storage Disease Type Ii

  • Acid Maltase Deficiency

  • Gsd Ii

  • Gaa Deficiency

  • Alpha-1,4-Glucosidase Deficiency

  • Glycogenosis Type Ii

  • GSD2

  • Acid Alpha-Glucosidase Deficiency

  • Amd

  • Glycogen Storage Disease, Type Ii

  • Pompe'S Disease

  • Glycogen Storage Disease Type 2

  • Cardiomegalia Glycogenica Diffusa

  • Acid Maltase Deficiency Disease

  • Deficiency Of Alpha-Glucosidase

  • Glycogenosis, Generalized, Cardiac Form

  • Deficiency Of Glucoamylase

  • Deficiency Of Maltase

  • Generalized Glycogenosis

  • Glycogenosis, Type 2

  • Lysosomal Alpha-1,4-Glucosidase Deficiency

  • Glucosidase Acid-1,4-Alpha Deficiency

  • Aglucosidase Alfa

  • Deficiency Of Lysosomal Alpha-Glucosidase

  • Glycogen Storage Disease Due To Acid Maltase Deficiency

  • Alpha-1,4-Glucosidase Acid Deficiency

  • Gsd Due To Acid Maltase Deficiency

  • Gsd Type 2

  • Gsd Type Ii

  • Glycogenosis Due To Acid Maltase Deficiency

  • Glycogenosis Type 2

  • Glycogen Storage Disease 2

  • Cardiomegalia Glycogenica

  • Glycogenosis Generalized Cardiac Form

  • Glycogenosis Ii

  • Gsd-Ii

  • Storage Disease, Glycogen, Type Ii

  • Generalized Glycogen Storage Disease Of Infants

  • Cardiac Form Of Generalized Glycogenosis

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]

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 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 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

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

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

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

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

Mongolian Spot
  • Mongolian Macula

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

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

Huntington Disease
  • Huntington'S Disease

  • Huntington Chorea

  • Huntington'S Chorea

  • HD

  • Huntington Chronic Progressive Hereditary Chorea

  • Juvenile Huntington Disease

  • Chronic Progressive Chorea

  • Chronic Progressive Hereditary Chorea

  • Hc - [Huntington Chorea]

  • Hereditary Chorea

  • Progressive Hereditary Chorea

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

Nerve Compression Syndrome
  • Entrapment Neuropathies

  • Compression Neuropathy

  • Entrapment Neuropathy

  • Peripheral Nerve Entrapment Syndrome

  • Nerve Compression Syndromes

  • Hereditary Liability To Pressure Palsies

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

Umbilical Hernia
  • Hernia, Umbilical

Sphingolipidosis
  • Sphingolipidoses

Alternating Exotropia
  • Exotropia

Leukodystrophy
  • Leukodystrophies

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

Central Nervous System Disease
  • Cns Disorder

  • CNS

  • Cns Diseases

  • Central Nervous System Diseases

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

Mucolipidosis Ii Alpha/Beta
  • I-Cell Disease

  • Mucolipidosis Type Ii

  • Mucolipidosis Ii

  • Icd

  • Inclusion Cell Disease

  • Inclusion-Cell Disease

  • I Cell Disease

  • Mucolipidosis 2

  • MLII

  • Ml Ii

  • Ml Ii Alpha/Beta

  • Gnpta

  • Leroy Disease

  • Ml 2

  • Ml Disorder Type 2

  • N-Acetylglucosamine 1phosphotransferase Deficiency

  • Mucolipidosis Type Ii Alpha/Beta

  • N-Acetylglucosamine 1-Phosphotransferase Deficiency

  • Deficiency Of N-Acetylglucosamine-1-Phosphotransferase

  • Mucolipidosis, Type Ii, Alpha/Beta

  • Ml2

  • Type Ii Mucolipidosis

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

Gingival Hypertrophy
  • Hypertrophy Of Gingivae

Aspartylglucosaminuria
  • Aspartylglycosaminuria

  • Glycosylasparaginase Deficiency

  • Aspartylglucosaminidase Deficiency

  • Aga Deficiency

  • AGU

  • Aspartylglucosamidase Deficiency

  • Glycoasparaginase

  • Aspartylglucosamidase Deficiency

  • Hyperammonemia, Type Iii

Gangliosidosis
  • Gangliosidoses

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

Lysosomal Acid Lipase Deficiency
  • Wolman Disease

  • Cholesteryl Ester Storage Disease

  • Lal Deficiency

  • Lipa Deficiency

  • Cholesterol Ester Storage Disease

  • CESD

  • Cholesterol Ester Hydrolase Deficiency

  • Acid Lipase Deficiency

  • Acid Esterase Deficiency

  • Familial Xanthomatosis

  • Wolman Xanthomatosis

  • Wolman'S Disease

  • Wolman'S Or Triglyceride Storage Type Iii Disease

  • Xanthomatosis, Familial

  • Liposomal Acid Lipase Deficiency, Wolman Type

  • Familial Visceral Xanthomatosis

  • Primary Familial Xanthomatosis

  • Primary Familial Xanthomatosis With Adrenal Calcification

  • Acid Lipase Disease

  • WOD

  • Acid Cholesteryl Ester Hydrolase Deficiency, Type 2

Mucolipidosis
Lysosomal And Lipase Deficiency
Tyrosinemia, Type I
  • Tyrosinemia Type I

  • Hepatorenal Tyrosinemia

  • Fumarylacetoacetase Deficiency

  • Fah Deficiency

  • TYRSN1

  • Fumarylacetoacetate Hydrolase Deficiency

  • Tyrosinemia Type 1

  • Tyrosinemia 1

  • Fumarylacetoacetase

Inguinal Hernia
  • Hernia Inguinal

  • Hernia, Inguinal

  • Inguinal Hernias

  • Bubonocele

  • Indirect Inguinal Hernia

  • Direct Inguinal Hernia

  • Oblique Inguinal Hernia

  • Scrotal Hernia

  • Ih - [Inguinal Hernia]

Gm2 Gangliosidosis
  • Gangliosidosis Gm2

  • Gangliosidoses, Gm2

Aortic Valve Insufficiency
  • Aortic Regurgitation

  • Rheumatic Aortic Regurgitation

  • Aortic Insufficiency

  • Rheumatic Aortic Insufficiency

  • Rheumatic Aortic Valve Insufficiency

  • Aortic Incompetence

  • Corrigan'S Disease

  • Rheumatic Aortic Valve Regurgitation

  • Aortic Valve Incompetency

  • Ai - [Aortic Incompetence]

  • Incompetent Aortic Valve

  • Ar - [Aortic Regurgitation]

  • Calcific Aortic Valve Regurgitation

  • Myxomatous Aortic Valve Regurgitation

  • Annular Incompetency Of Aortic Valve

  • Austin Flint Murmur

  • Flint Murmur

  • Rheumatic Aortic Incompetence

  • Rheumatic Ai - [Aortic Insufficiency]

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

Gaucher Disease, Type I
  • Glucocerebrosidase Deficiency

  • Acid Beta-Glucosidase Deficiency

  • Gba Deficiency

  • GD1

  • Gd I

  • Gaucher Disease, Noncerebral Juvenile

  • Gaucher Disease Type 1

  • Gaucher Disease Type I

  • Gaucher'S Disease Type I

  • Gaucher Disease

  • Gd 1

  • Non-Cerebral Juvenile Gaucher Disease

  • GD

  • Gaucher Disease 1

  • Adult Non-Neuronopathic Gaucher Disease

  • Noncerebral Juvenile Gaucher Disease

  • Type 1 Gaucher Disease

  • Gaucher Disease, Type 1

Niemann-Pick Disease
  • Sphingomyelin/Cholesterol Lipidosis

  • Niemann-Pick Diseases

  • Lipoid Histiocytosis

  • Sphingomyelin Lipidosis

  • Sphingomyelinase Deficiency Disease

  • Lipid Histiocytosis

  • Neuronal Cholesterol Lipidosis

  • Neuronal Lipidosis

  • Npd

  • Sphingomyelinase Deficiency

  • Niemann-Pick Disease, Type A

Osteochondrodysplasia
  • Skeletal Dysplasia

  • Chondrodystrophy

  • Congenital Anomaly Of Cartilage

  • Osteochondrodysplasias

  • Cartilage Development Disorder

  • Osteochondrodysplasia Syndrome

  • Dysplasia, Skeletal

  • Mucopolysaccharidosis Iv

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
Canis familiaris IDUA VGNC VGNC:41867
Mus musculus IDUA MGD MGI:96418
Bos taurus IDUA VGNC VGNC:30037
Rattus norvegicus IDUA RGD RGD:1310943
Macaca mulatta IDUA VGNC VGNC:106621
Felis catus IDUA VGNC VGNC:67694
Others IDUA NCBI