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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IDUA Gene

protein-coding   GIFtS: 61
GCID: GC04P000970

iduronidase, alpha-L-

 Explore 45 diseases affiliated with
IDUA via our new
 Human Malady Compendium 
Biological research products
for IDUA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Iduronidase, Alpha-L-1 2
MPS11 2
IDA2 5
Alpha-L-Iduronidase1
EC 3.2.1.763

External Ids:    HGNC: 53911   Entrez Gene: 34252   Ensembl: ENSG000001274157   OMIM: 2528005   UniProtKB: P354753   

Export aliases for IDUA gene to outside databases

Previous GC identifer: GC04P001023


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IDUA:
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_037622.5  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IDUA gene promoter:
         USF1   PPAR-gamma1   p53   USF-1   PPAR-gamma2   POU3F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIDUA promoter sequence
   Search SABiosciences Chromatin IP Primers for IDUA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IDUA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3   Ensembl cytogenetic band:  4p16.3   HGNC cytogenetic band: 4p16.3

IDUA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IDUA gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P000970:  view genomic region     (about GC identifiers)

Start:
980,785 bp from pter      End:
998,317 bp from pter
Size:
17,533 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475 (See protein sequence)
Recommended Name: Alpha-L-iduronidase precursor  
Size: 653 amino acids; 72670 Da
Subunit: Monomer (Probable)
Subcellular location: Lysosome
1 PDB 3D structure from and Proteopedia for IDUA:
1Y24 (3D)    

Explore the universe of human proteins at neXtProt for IDUA: NX_P35475

IDUA Protein expression data from MOPED and PaxDb:    About this image 
IDUA Protein Expression

REFSEQ proteins: NP_000194.2  
ENSEMBL proteins: 
 ENSP00000247933   ENSP00000422952   ENSP00000424847   ENSP00000423685   ENSP00000424227  
 ENSP00000425081   ENSP00000396458  
Reactome Protein details: P35475
Human Recombinant Protein Products for IDUA: 
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Browse ProSpec Recombinant Proteins
Uscn Proteins for IDUA

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005764lysosome ----
GO:0030135coated vesicle IEA--
GO:0043202lysosomal lumen TAS--

IDUA for ontologies           About GeneDecksing



IDUA Antibody Products: 
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ThermoFisher Antibody for IDUA

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Uscn ELISAs and CLIAs for IDUA


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

IDUA for domains           About GeneDecksing

3 InterPro domains/families:
 IPR000514 Glyco_hydro_39
 IPR017853 Glycoside_hydrolase_SF
 IPR013781 Glyco_hydro_catalytic_dom

Graphical View of Domain Structure for InterPro Entry P35475

ProtoNet protein and cluster: P35475

1 Blocks protein family: IPB000514 Glycoside hydrolase

UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
Similarity: Belongs to the glycosyl hydrolase 39 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: IDUA_HUMAN, P35475
Catalytic activity: Hydrolysis of unsulfated alpha-L-iduronosidic linkages in dermatan sulfate

     Genatlas biochemistry entry for IDUA:
iduronidase,alpha-L,same as D4S111,lysosomal,hydrolyzing dermatan sulfate,heparan sulfate,catalyzing the second step of
degradation of glucosaminoglycans (mucopolysaccharides)

     Enzyme Number (IUBMB): EC 3.2.1.761

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003940L-iduronidase activity IEA--
GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
GO:0005102receptor binding IEA--
GO:0043169cation binding IEA--
     
IDUA for ontologies           About GeneDecksing


Phenotypes:
     15/20 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Idua) (see all 20):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
 growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
 integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

IDUA for phenotypes           About GeneDecksing

Animal Models:
     Mouse knock-outs for IDUA: Iduatm1Clk Iduatm1Efn
   inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for IDUA 

miRNA
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Inhib. RNA
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OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IDUA (see all 4)
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Sirion Biotech Custom design and validation of potent shRNA sequences against IDUA 

Gene Editing
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Clone
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In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDUA


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1MPS IIIC - Sanfilippo syndrome C
8/15 pathways (see all 15)
MPS VI - Maroteaux-Lamy syndrome1.00
MPS IIIA - Sanfilippo syndrome A1.00
MPS IIIC - Sanfilippo syndrome C1.00
MPS IIID - Sanfilippo syndrome D1.00
MPS I - Hurler syndrome1.00
MPS IX - Natowicz syndrome1.00
Mucopolysaccharidoses1.00
MPS II - Hunter syndrome1.00
2Metabolism
Metabolism1.00
Metabolic pathways0.38
3Disease
Disease1.00
4Lysosome
Lysosome1.00
5Glycosaminoglycan degradation
Glycosaminoglycan degradation1.00

Pathway sources
See GeneCards unified pathways
Show all pathways


5/20        Reactome Pathways for IDUA (see all 20)
    Chondroitin sulfate/dermatan sulfate metabolism
MPS VI - Maroteaux-Lamy syndrome
Metabolism
Disease
MPS II - Hunter syndrome


3         Kegg Pathways  (Kegg details for IDUA):
    Glycosaminoglycan degradation
Metabolic pathways
Lysosome


IDUA for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IDUA

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/25 Interacting proteins for IDUA (P354752, 3 ENSP000002479334) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
InteractantInteraction Details
GeneCardExternal ID(s)
MPP3Q133682, 3MINT-64783 I2D: score=4 
ARSBENSP000002649144STRING: ENSP00000264914
GPC3ENSP000003598544STRING: ENSP00000359854
GPC4ENSP000003598644STRING: ENSP00000359864
HEXAENSP000002680974STRING: ENSP00000268097
About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000902cell morphogenesis IEA--
GO:0005975carbohydrate metabolic process TAS--
GO:0005984disaccharide metabolic process TAS2470345
GO:0006027glycosaminoglycan catabolic process TAS--
GO:0007040lysosome organization IEA--

IDUA for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

IDUA for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for IDUA

3 HMDB Compounds for IDUA    About this table
CompoundSynonyms CAS #PubMed Ids
DermatanChondroitin sulfate B (see all 13)24967-94-0--
Iduronic acidL-Iduronate (see all 3)3402-98-0--
WaterDihydrogen oxide (see all 2)7732-18-5--
10/25 Novoseek chemical compound relationships for IDUA gene (see all 25)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
dermatan sulfate 83.9 28 8680403 (1), 9425437 (1), 11861306 (1), 12517274 (1) (see all 21)
glycosaminoglycan 78.2 22 15851016 (2), 19384290 (2), 11861306 (1), 7950365 (1) (see all 12)
idarubicin 77.4 83 9147610 (8), 12028023 (6), 9256828 (5), 8057680 (5) (see all 15)
heparan sulfate 74.4 26 8680403 (1), 9425437 (1), 11861306 (1), 12517274 (1) (see all 19)
dermatan 69.2 4 19839758 (1), 1917344 (1)
mannose 6-phosphate 67.4 9 16439176 (2), 9425437 (1), 18838694 (1), 9068797 (1) (see all 7)
mucopolysaccharide 57.4 3 9425437 (1), 1907534 (1)
iduronic acid 52.9 1 16283671 (1)
mannose 45.5 2 7950365 (1), 18613275 (1)
tetrasaccharide 43.2 1 14718373 (1)

Search CenterWatch for drugs/clinical trials and news about IDUA 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for IDUA gene: 
NM_000203.3  

Unigene Cluster for IDUA:

Iduronidase, alpha-L-
Hs.89560  [show with all ESTs]
Unigene Representative Sequence: NM_000203
13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000247933(uc003gby.3 uc003gbz.3) ENST00000502910 ENST00000514698
ENST00000508168 ENST00000506561 ENST00000504568 ENST00000509744 ENST00000514192
ENST00000509948 ENST00000514224 ENST00000502829 ENST00000514417 ENST00000453894(uc003gca.3)


miRNA
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OriGene shRNA RFP: IDUA
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Sirion Biotech Custom design and validation of potent shRNA sequences against IDUA 
Clone
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IDUA
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IDUA

Additional cDNA sequence: 

AK098805.1 AK291816.1 BC029959.1 BC099922.1 M74715.1 

13 DOTS entries:

DT.100748479  DT.95211433  DT.100748478  DT.101982098  DT.312397  DT.97841748  DT.91740837  DT.95308638 
DT.121268303  DT.121268400  DT.97816385  DT.99963606  DT.97833470 

24/186 AceView cDNA sequences (see all 186):

BE674945 AI093301 AI216475 NM_000203 AI809662 AW341134 CB049523 BM887869 
W25580 AI911115 AI332855 AI457535 AI332567 AI703058 AI917596 BQ772031 
AI703146 AI739461 BE327278 R69402 AI861925 BE045581 H27612 M74715 

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for IDUA (see all 8)    About this scheme

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1:                          -     -                 -     -     -                                                                           
SP2:                    -     -     -                 -     -     -                                                                           
SP3:                                -                 -     -     -                                                                           
SP4:                                                  -     -     -                                                                           
SP5:                                                                                                                                          


ECgene alternative splicing isoforms for IDUA

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

IDUA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGCCCTCCC
IDUA Expression
About this image
See IDUA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for IDUA

SOURCE GeneReport for Unigene cluster: Hs.89560

UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
Tissue specificity: Ubiquitous

    SABiosciences Custom PCR Arrays for IDUA
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IDUA
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IDUA
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IDUA

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for IDUA gene from 5/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Idua1 , 5 iduronidase, alpha-L-1, 5 79.93(n)1
79.1(a)1
  5 (53.24 cM)5
159321  NM_008325.31  NP_032351.21 
 1086603315 
chicken
(Gallus gallus)
Aves IDUA1 iduronidase, alpha-L- 60.77(n)
60.66(a)
  427294  NM_001031433.1  NP_001026604.1 
lizard
(Anolis carolinensis)
Reptilia --
--
--
75(a)
55(a)
many → 1
many → 1
GL343201.1(908740-910900)
GL343201.1(882598-907003)
zebrafish
(Danio rerio)
Actinopterygii idua1 iduronidase, alpha-L- 62.4(n)
58.9(a)
  567720  XM_001923654.3  XP_001923689.3 
fruit fly
(Drosophila melanogaster)
Insecta CG62011 , 3 L-iduronidase3
CG62011
30(a)3
45.89(n)1
32.07(a)1
  32D43
345441  NM_135645.11  NP_609489.11 


ENSEMBL Gene Tree for IDUA (if available)
TreeFam Gene Tree for IDUA (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/403 NCBI SNPs in IDUA are shown (see all 403    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1219650201,2
C,Fpathogenic981646(+) GGGACC/TAGCAG 5 Q * stg1 int1 ut311Minor allele frequency- T:0.00NA 4432
rs1219650191,2
Cpathogenic996535(+) GCTCTA/GGGCCG 2 * W stg10--------
rs119348011,2
C,A,Hpathogenic996555(+) AGGCCG/CGGACC 2 /R /G mis1 ese31Minor allele frequency- C:0.00NA 2
rs1219650251,2
Cpathogenic998080(+) GAGTTC/G/TGAGCC 3 R G * mis1 stg11NA 4544
rs759217271,2
--978820(+) GTGTCC/GCGGTG 2 -- int1 us2k10--------
rs1925267121,2
--978893(+) AGACAA/GTTCTG 2 -- int1 us2k10--------
rs38067551,2
C,F,H--979030(+) AGCAGC/AGTGTC 2 -- int1 us2k17Minor allele frequency- A:0.04EA NS WA NA 1968
rs1849140921,2
--979061(+) GATACA/GCTGCA 2 -- us2k1 int10--------
rs1875583731,2
--979092(+) CAAAGC/TGGGCC 2 -- int1 us2k10--------
rs38405001,2
C,F--979175(+) CGGTTC/-CGTTC 2 -- int1 us2k14Minor allele frequency- -:0.38NA 8

HapMap Linkage Disequilibrium report for IDUA (980785 - 998317 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for IDUA
     4 CNVs: 30190 30187 30189 30188
Human Gene Mutation Database (HGMD): IDUA

Locus Specific Mutation Databases (LSDB): IDUA

SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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IDUA for disorders           About GeneDecksing

OMIM gene information: 252800   
OMIM disorders: 607014  607016  607015  
UniProtKB/Swiss-Prot: IDUA_HUMAN, P35475
  • Defects in IDUA are the cause of mucopolysaccharidosis type 1H (MPS1H) [MIM:607014]; also known as Hurler
  • syndrome. MPS1H is a severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by
    progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H
    usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal
    clouding and severe mental retardation. Obstructive airways disease, respiratory infection and cardiac complications
    usually result in death before 10 years of age
  • Defects in IDUA are the cause of mucopolysaccharidosis type 1H/S (MPS1H/S) [MIM:607015]; also known as
  • Hurler-Scheie syndrome. MPS1H/S is a form of mucopolysaccharidosis type 1, a rare lysosomal storage disease
    characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate.
    MPS1H/S represents an intermediate phenotype of the MPS1 clinical spectrum. It is characterized by relatively little
    neurological involvement, but most of the somatic symptoms described for severe MPS1 develop in the early to
    mid-teens, causing considerable loss of mobility
  • Defects in IDUA are the cause of mucopolysaccharidosis type 1S (MPS1S) [MIM:607016]; also known as Scheie
  • syndrome. MPS1S is a mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by
    progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S
    may have little or no neurological involvement, normal stature and life span, but present development of joints
    stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding

    20/45 diseases for IDUA (see all 45):    About MalaCards
    mucopolysaccharidosis    hurler-scheie syndrome    autosomal recessive disease    mucopolysaccharidosis ih
    scheie syndrome    mongolian spot    lysosomal storage disease    corneal clouding
    duodenogastric reflux    metachromatic leukodystrophy    craniofacial abnormalities    non-hodgkin lymphoma
    hurler syndrome    mucopolysaccharidosis i    gaucher's disease    metabolic disorders
    friedreich ataxia    leukodystrophy    hodgkin's lymphoma    leukopenia

    1 disease from the University of Copenhagen DISEASES database for IDUA:
    Mucopolysaccharidosis

    10/26 Novoseek disease relationships for IDUA gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mucopolysaccharidosis type i 99.1 149 12517274 (3), 14718373 (3), 1339393 (2), 10870845 (2) (see all 97)
    hurler-scheie syndrome 95.7 11 7550232 (2), 12517274 (1), 14559116 (1), 1832239 (1) (see all 8)
    mucopolysaccharidosis 88.7 13 10735634 (2), 9425437 (1), 11110421 (1), 17718826 (1) (see all 9)
    lysosomal storage diseases 82.4 18 17718826 (1), 18479957 (1), 1339393 (1), 9134434 (1) (see all 11)
    enzyme deficiency 66.9 4 1907053 (1), 1909400 (1), 17490413 (1), 17920576 (1)
    mucopolysaccharidosis type vii 50 2 9134434 (1), 8006122 (1)
    deficiency diseases 46.9 2 7809150 (1), 7550232 (1)
    hepatomegaly 45.6 1 16324679 (1)
    pompe disease 36.8 2 16359666 (1)
    metabolic disorder 36.2 1 11952079 (1)

    GeneTests: IDUA
    Mucopolysaccharidosis Type I

    Genetic Association Database (GAD): IDUA
    Human Genome Epidemiology (HuGE) Navigator: IDUA (1 document)

    Export disorders for IDUA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IDUA gene, integrated from 9 sources (see all 212):
    (articles sorted by number of sources associating them with IDUA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human alpha-L-iduronidase: cDNA isolation and expression. (PubMed id 1946389)1, 2, 9 Scott H.S.... Hopwood J.J. (1991)
    2. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy. (PubMed id 15300847)1, 2, 9 Yogalingam G.... Hopwood J.J. (2004)
    3. Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity. (PubMed id 10466419)1, 2, 9 Lee-Chen G.J.... Chin Y.W. (1999)
    4. Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency. (PubMed id 8554071)1, 2, 9 Aronovich E.L.... Whitley C.B. (1996)
    5. PCR detection of two RFLPs in exon I of the alpha-L-iduronidase (IDUA) gene. (PubMed id 1362562)1, 2, 9 Scott H.S.... Morris C.P. (1992)
    6. Identification and characterization of -3c-g acceptor splice site mutation in human alpha-L-iduronidase associated with mucopolysaccharidosis type IH/S. (PubMed id 10735634)1, 2, 9 Teng Y.N.... Lee-Chen G.J. (2000)
    7. Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. (PubMed id 1832239)1, 3, 9 MacDonald M.E....Gusella J.F. (1991)
    8. Four novel mutations underlying mild or intermediate forms of alpha- L-iduronidase deficiency (MPS IS and MPS IH/S). (PubMed id 7550232)1, 2, 9 Tieu P.T.... Neufeld E.F. (1995)
    9. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications. (PubMed id 8680403)1, 2, 9 Scott H.S.... Hopwood J.J. (1995)
    10. Structure and sequence of the human alpha-L-iduronidase gene. (PubMed id 1505961)1, 2, 9 Scott H.S.... Morris C.P. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3425 HGNC: 5391 AceView: IDUA Ensembl:ENSG00000127415 euGenes: HUgn3425
    ECgene: IDUA Kegg: 3425 H-InvDB: IDUA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IDUA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IDUA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IDUA gene:
    Search GeneIP for patents involving IDUA

    GeneCards and IP:
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