MCID: MCP002
MIFTS: 80

Mucopolysaccharidosis I malady

Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Mucopolysaccharidosis I

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Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Mucopolysaccharidosis i (mps i) is a condition that affects many different parts of the body. it is a progressively debilitating disorder; however, the rate of progression varies among affected individuals. mps i is caused by reduced levels or the complete lack of the idua enzyme. without the proper amount of this enzyme, many different organs and tissues of the body become enlarged, resulting in various medical problems. this condition is usually divided into two subtypes, severe mps i and attenuated mps i. while both types can cause similar symptoms, people with severe mps i typically have an earlier onset of symptoms, a decline in intellectual function, and a shorter lifespan. although there is no cure for mps i, bone marrow transplant and enzyme replacement therapy are treatment options that may help manage the symptoms of this condition. last updated: 7/15/2008

MalaCards: Mucopolysaccharidosis I, also known as mucopolysaccharidosis type i, is related to mucopolysaccharidosis and mucopolysaccharidosis vi, and has symptoms including hemiplegia/diplegia/hemiparesia/limb palsy, hypertonia/spasticity/rigidity/stiffness and sensorineural deafness/hearing loss. An important gene associated with Mucopolysaccharidosis I is IDUA (iduronidase, alpha-L-). The drug laronidase and the compounds chondroitin sulfate and docosahexaenoic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related mouse phenotypes are cardiovascular system and hearing/vestibular/ear.

Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-l-iduronidase.

Genetics Home Reference:21 Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types.

Wikipedia:63 Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler\'s disease, also gargoylism,... more...

Description from OMIM:46 607014,607015,607016

GeneReviews summary for mps1

Aliases & Classifications for Mucopolysaccharidosis I

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
scheie syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Elderly


Aliases & Descriptions:

mucopolysaccharidosis i 8 21 30 60
mucopolysaccharidosis type i 19 42 20 22 21 44
hurler-scheie syndrome 8 42 20 21 44 60
hurler syndrome 8 42 20 22 21
scheie syndrome 8 20 21 48
idua deficiency 19 42 21
alpha-l-iduronidase deficiency 19 42
mucopolysaccharidosis, mps-i 8 22
mucopolysaccharidosis is 9 46
mps i 19 21
iduronidase deficiency disease 8
mucopolysaccharidosis, type 1 8
mucopolysaccharidosis type 1s 48
pfaundler-hurler syndrome 60
mps i - hurler syndrome 8
mucopolysaccharidosis v 60
lipochondrodystrophy 8
attenuated mps i 42
mps i h-s 21
mps i s 21
mps i h 21
mps1s 48


External Ids:

Disease Ontology8 DOID:12802
NCIt39 C85053
MeSH34 D008059
SNOMED-CT via Orphanet57 73123008
ICD10 via Orphanet26 E76.0
ICD1025 E76.0

Related Diseases for Mucopolysaccharidosis I

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Mucopolysaccharidosis Iv family:

Mucopolysaccharidosis Vi mucopolysaccharidosis i
Mucopolysaccharidosis Iii Mucopolysaccharidosis Ii
Mucopolysaccharidosis Ix Mucopolysaccharidosis
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis Ih

Diseases related to Mucopolysaccharidosis I via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 62)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis31.5IDUA, LCAT
2mucopolysaccharidosis vi10.4
3metachromatic leukodystrophy10.3
4leukodystrophy10.3
5hypertension10.3
6lysosomal storage disease10.3
7mucopolysaccharidosis ii10.3
8adrenoleukodystrophy10.2
9melanoma10.2
10coronary artery disease10.1
11factor vii deficiency10.1
12portal hypertension10.1
13craniosynostosis10.1
14endocarditis10.1
15neurologic diseases10.1
16pseudopapilledema10.0
17macular corneal dystrophy10.0
18cerebritis10.0
19arthritis10.0
20corneal dystrophy10.0
21myopathy10.0
22diarrhea10.0
23mucopolysaccharidosis iii10.0
24endocardial fibroelastosis10.0
25fabry disease10.0
26cervicitis10.0
27dysostosis10.0
28eye disease10.0
29glaucoma10.0
30hydrocephalus10.0
31liver disease10.0
32meningioma10.0
33mucopolysaccharidosis ih10.0
34mongolian spot10.0
35lissencephaly10.0
36adenocarcinoma10.0
37breast cancer10.0
38pancreatic ductal adenocarcinoma10.0
39pancreatitis10.0
40primary hyperoxaluria10.0LCAT
41liver cirrhosis10.0LCAT
42acute myocardial infarction10.0LCAT
43hyperhomocysteinemia10.0ELN
44periodontitis10.0TLR4
45pulmonary emphysema10.0ELN
46endometriosis10.0ELN
47diabetic retinopathy10.0FGF2
48myeloma10.0FGF2
49hypercalcemia10.0ELN
50arteriosclerosis10.0ELN

Graphical network of the top 20 diseases related to Mucopolysaccharidosis I:



Diseases related to mucopolysaccharidosis i

Clinical Features for Mucopolysaccharidosis I

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

607014,607015,607016

Clinical synopsis from OMIM:

607016

Symptoms:

48 (show all 18)
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypertonia/spasticity/rigidity/stiffness
  • sensorineural deafness/hearing loss
  • macrostomia/big mouth
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • corneal clouding/opacity/vascularisation
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • nerve conduction abnormality
  • acute palsy
  • anomalies of bones/skeletal anomalies
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • coarse face
  • thick lips
  • protruding lips
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • glaucoma

Drugs & Therapeutics for Mucopolysaccharidosis I

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Mucopolysaccharidosis I

Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis I

Search NIH Clinical Center for Mucopolysaccharidosis I

Search CenterWatch for Mucopolysaccharidosis I

Inferred drug relations via UMLS60/NDF-RT40:

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Mucopolysaccharidosis I cell therapies at LifeMap Discovery.

Genetic Tests for Mucopolysaccharidosis I

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Mucopolysaccharidosis I:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I20 22 IDUA
2 Hurler Syndrome20 22
3 Hurler-Scheie Syndrome20
4 Scheie Syndrome20
5 Mucopolysaccharidosis, Mps-I-S22

Anatomical Context for Mucopolysaccharidosis I

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis I:

32
Bone, Bone marrow, Liver, Eye, Brain, Testes, Skin, Spinal cord, Tongue, Lung, T cells

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Mucopolysaccharidosis I:
id TissueAnatomical CompartmentCell Relevance
1 BoneBone MarrowBone Marrow Stromal Cells Potential therapeutic candidate

Animal Models for Mucopolysaccharidosis I or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mucopolysaccharidosis I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1IDUA, TLR4, LCAT
2MP:00053778.4FGF2, IDUA, TLR4
3MP:00053918.2FGF2, IDUA, TLR4, LCAT
4MP:00053978.2FGF2, IDUA, TLR4, LCAT
5MP:00053698.1TLR4, IDUA, FGF2, ELN
6MP:00053767.4LCAT, TLR4, IDUA, FGF2, ELN

Publications for Mucopolysaccharidosis I

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Sources:
50PubMed
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Articles related to Mucopolysaccharidosis I:

(show top 50)    (show all 259)
idTitleAuthorsYear
1
A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. (24053568)
2013
2
Residual I+-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. (23786846)
2013
3
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. (22983812)
2013
4
Enzyme replacement therapy with laronidase (Aldurazyme(Ar)) for treating mucopolysaccharidosis type I. (24085657)
2013
5
Enzyme replacement therapy with laronidase (Aldurazyme(Ar)) for treating mucopolysaccharidosis type I. (24257962)
2013
6
Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I. (24378468)
2013
7
Immune response to intrathecal enzyme replacement therapy in mucopolysaccharidosis I patients. (24002329)
2013
8
Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms. (22527994)
2012
9
Enzyme replacement therapy in an attenuated case of mucopolysaccharidosis type I (Scheie syndrome): a 6.5-year detailed follow-up. (23127271)
2012
10
Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice. (22580166)
2012
11
Inner ear changes in mucopolysaccharidosis type I/Hurler syndrome. (22918113)
2012
12
Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I. (22402327)
2012
13
An exploratory study of brain function and structure in mucopolysaccharidosis type I: long term observations following hematopoietic cell transplantation (HCT). (22867884)
2012
14
Intracerebroventricular transplantation of human bone marrow-derived multipotent progenitor cells in an immunodeficient mouse model of mucopolysaccharidosis type I (MPS-I). (22472595)
2012
15
Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking I+-l-iduronidase. (21873421)
2011
16
Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms. (21521498)
2011
17
Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients. (21639919)
2011
18
Intrathecal enzyme replacement therapy for mucopolysaccharidosis I: translating success in animal models to patients. (21506913)
2011
19
Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. (20162367)
2010
20
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. (21637564)
2010
21
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. (19954743)
2010
22
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I. (20655780)
2010
23
Upregulation of elastase activity in aorta in mucopolysaccharidosis I and VII dogs may be due to increased cytokine expression. (20044292)
2010
24
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I. (21123810)
2010
25
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. (19038563)
2009
26
Combined aortic and mitral valve replacement in a child with mucopolysaccharidosis type I: a case report. (19455897)
2009
27
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. (18707908)
2008
28
Co-expression of MGMT(P140K) and alpha-L-iduronidase in primary hepatocytes from mucopolysaccharidosis type I mice enables efficient selection with metabolic correction. (18076130)
2008
29
Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). (18546328)
2008
30
Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin. (17604658)
2008
31
The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. (18389335)
2008
32
Immune tolerance improves the efficacy of enzyme replacement therapy in canine mucopolysaccharidosis I. (18654665)
2008
33
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. (17043838)
2007
34
Mucopolysaccharidosis I cats mount a cytotoxic T lymphocyte response after neonatal gene therapy that can be blocked with CTLA4-Ig. (16698321)
2006
35
Gene therapy for a mucopolysaccharidosis type I murine model with lentiviral-IDUA vector. (15703491)
2005
36
Mucopolysaccharidosis I under enzyme replacement therapy with laronidase--a mortality case with autopsy report. (16435211)
2005
37
Anesthesia for an adult with mucopolysaccharidosis I. (16427535)
2005
38
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (12559846)
2003
39
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. (12747881)
2003
40
Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. (12948739)
2003
41
Enzyme replacement therapy in feline mucopolysaccharidosis I. (11243725)
2001
42
Enzyme-replacement therapy in mucopolysaccharidosis I. (11172140)
2001
43
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase. (11580912)
2001
44
Mobilization and transduction of peripheral blood progenitor cells in patients with mucopolysaccharidosis I. (9919944)
1998
45
Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. (7951228)
1994
46
Mucopolysaccharidosis Type I (20301341)
1993
47
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. (1339393)
1992
48
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. (1551868)
1992
49
Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I. (2150744)
1990
50
Mucopolysaccharidosis I-H (Hurler's syndrome) and human temporal bone histopathology. (6422830)
1984

Genetic Variations for Mucopolysaccharidosis I

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mucopolysaccharidosis I:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1IDUAp.Arg89GlnVAR_003354
2IDUAp.Arg89TrpVAR_003355
3IDUAp.Arg383HisVAR_003367
4IDUAp.Leu490ProVAR_003374
5IDUAp.Arg492ProVAR_003375
6IDUAp.Asn350IleVAR_020983
7IDUAp.Ser423ArgVAR_020985
8IDUAp.Tyr76CysVAR_066215
9IDUAp.Gly219GluVAR_066220
10IDUAp.Glu276LysVAR_066222
11IDUAp.Trp306LeuVAR_066223
12IDUAp.Asn348LysVAR_066224

Expression for genes affiliated with Mucopolysaccharidosis I

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidosis I

Search GEO for disease gene expression data for Mucopolysaccharidosis I.

Pathways for genes affiliated with Mucopolysaccharidosis I

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Compounds for genes affiliated with Mucopolysaccharidosis I

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB, 59Tocris Bioscience
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Compounds related to Mucopolysaccharidosis I according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1chondroitin sulfate44 2411.0ELN
2docosahexaenoic acid44 28 2411.8TLR4, LCAT
3dermatan44 2410.7IDUA, ELN
4diisopropylfluorophosphate449.7LCAT, ELN
5myristic acid44 11 2411.6LCAT, TLR4
6iduronic acid44 2410.6FGF2, IDUA
7gelfoam449.4ELN, FGF2
8infliximab44 49 1111.4FGF2, TLR4
9polyglycolic acid449.4ELN, FGF2
10alginate449.3FGF2, ELN
11palmitate449.3LCAT, TLR4
12lactose44 1110.3ELN, FGF2
13bleomycin44 1110.2ELN, FGF2
14atorvastatin44 49 28 11 2413.1TLR4, LCAT
15suramin44 28 1111.1ELN, FGF2
16hydrocortisone44 2 59 1112.0ELN, FGF2
17dermatan sulfate449.0IDUA, FGF2, ELN
18glycosaminoglycan449.0IDUA, FGF2, ELN
19cyclosporin a44 28 5911.0TLR4, IDUA, FGF2
20heparan sulfate44 2410.0IDUA, FGF2, ELN
21sodium dodecylsulfate448.9ELN, FGF2, LCAT
22tgf beta1448.9TLR4, FGF2, ELN
23carbohydrates448.9ELN, FGF2, TLR4
24phosphatidylcholine448.9LCAT, FGF2, ELN
25vitamin a44 11 2410.9ELN, FGF2, LCAT
26ascorbic acid44 249.8ELN, FGF2, LCAT
27actinomycin d448.8ELN, FGF2, TLR4
28genistein44 28 59 2 11 2413.8ELN, FGF2, TLR4
29cycloheximide448.7TLR4, FGF2, ELN
30h2o2448.7ELN, FGF2, TLR4
31vegf448.5TLR4, FGF2, ELN
32polysaccharide448.5TLR4, IDUA, FGF2, ELN
33heparin44 28 11 2411.5ELN, FGF2, IDUA, LCAT
34alanine448.4LCAT, TLR4, FGF2, ELN
35serine448.2LCAT, TLR4, FGF2, ELN
36dexamethasone44 49 28 1110.9ELN, FGF2, IDUA, TLR4, LCAT

GO Terms for genes affiliated with Mucopolysaccharidosis I

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16Gene Ontology
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Biological processes related to Mucopolysaccharidosis I according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascadeGO:0703749.1FGF2, TLR4
2organ morphogenesisGO:0098878.9ELN, FGF2
3activation of MAPK activityGO:0001878.8FGF2, TLR4

Products for genes affiliated with Mucopolysaccharidosis I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis I

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet