MPS 1
MCID: MCP002
MIFTS: 73

Mucopolysaccharidosis I (MPS 1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases categories

Summaries for Mucopolysaccharidosis I

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 coronary artery disease, 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 dermatan and mannose have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related mouse phenotypes are skeleton and liver/biliary system.

Disease Ontology:9 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-l-iduronidase.

Wikipedia:66 Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler\'s disease, also gargoylism,... more...

Description from OMIM:48 607015,607016,607014

GeneReviews summary for mps1

Aliases & Classifications for Mucopolysaccharidosis I

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Sources:
9Disease Ontology, 22Genetics Home Reference, 32LifeMap Discovery™, 63UMLS, 44NIH Rare Diseases, 21GeneTests, 50Orphanet, 23GTR, 46Novoseek, 10diseasecard, 48OMIM, 20GeneReviews, 59SNOMED-CT, 36MeSH, 41NCIt, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 26ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

50
scheie syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Elderly


Aliases & Descriptions:

mucopolysaccharidosis i 9 22 32 63
mucopolysaccharidosis type i 20 44 21 23 22 46
hurler-scheie syndrome 9 44 21 22 46 63
hurler syndrome 9 44 21 23 22
scheie syndrome 9 44 21 22 50
idua deficiency 20 44 22
mps i 20 44 22
alpha-l-iduronidase deficiency 20 44
mucopolysaccharidosis, mps-i 9 23
mucopolysaccharidosis is 10 48
iduronidase deficiency disease 9
mucopolysaccharidosis type is 50
mucopolysaccharidosis type 1s 50
mucopolysaccharidosis, type 1 9
pfaundler-hurler syndrome 63
mucopolysaccharidosis v 63
mps i - hurler syndrome 9
lipochondrodystrophy 9
attenuated mps i 44
severe mps i 44
mps i h-s 22
mps i s 22
mps i h 22
mps1s 50
mps 1 44


External Ids:

Disease Ontology9 DOID:12802
MeSH36 D008059
NCIt41 C85053
SNOMED-CT via Orphanet60 73123008
ICD10 via Orphanet27 E76.0
ICD1026 E76.0

Related Diseases for Mucopolysaccharidosis I

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Mucopolysaccharidosis Iv family:

Mucopolysaccharidosis Ix Mucopolysaccharidosis Vi
Mucopolysaccharidosis Iii mucopolysaccharidosis i
Mucopolysaccharidosis Ii 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 51)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis31.6IDUA, LCAT
2coronary artery disease30.2LCAT, TLR4
3metachromatic leukodystrophy10.4
4leukodystrophy10.4
5adrenoleukodystrophy10.3
6melanoma10.3
7hematopoietic stem cell transplantation10.2
8factor vii deficiency10.1
9portal hypertension10.1
10artery disease10.1
11craniosynostosis10.1
12endocarditis10.1
13neurologic diseases10.1
14nodular regenerative hyperplasia10.1
15aneurysm10.1
16carpal tunnel syndrome10.1
17macular corneal dystrophy10.1
18pseudopapilledema10.1
19cerebritis10.1
20arthritis10.1
21corneal dystrophy10.1
22hypertension10.1
23myopathy10.1
24trigger thumb10.1
25diarrhea10.1
26mongolian spot10.1
27lissencephaly10.1
28endocardial fibroelastosis10.0
29fabry disease10.0
30cervicitis10.0
31dysostosis10.0
32eye disease10.0
33glaucoma10.0
34hydrocephalus10.0
35meningioma10.0
36ataxia10.0
37mucopolysaccharidosis ih10.0
38blindness10.0
39adenocarcinoma10.0
40breast cancer10.0
41pancreatic ductal adenocarcinoma10.0
42pancreatitis10.0
43thrombocytopenia10.0TLR4, IDUA
44galactosemia10.0LCAT, TLR4
45mental retardation10.0IDUA, ELN
46metabolic syndrome x10.0LCAT, IDUA
47cystic fibrosis10.0TLR4, ELN
48insulin resistance10.0TLR4, LCAT
49vascular disease10.0LCAT, ELN
50congenital heart disease10.0ELN, TLR4

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



Diseases related to mucopolysaccharidosis i

Symptoms for Mucopolysaccharidosis I

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

607016

Clinical features from OMIM:

607015,607016,607014

Symptoms:

50 (show all 18)
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • hypertonia/spasticity/rigidity/stiffness
  • sensorineural deafness/hearing loss
  • macrostomia/big mouth
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • splenomegaly
  • 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)
  • glaucoma

Drugs & Therapeutics for Mucopolysaccharidosis I

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discovery™, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

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:
21GeneTests, 23GTR
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Genetic tests related to Mucopolysaccharidosis I:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I21 23 IDUA
2 Hurler Syndrome21 23
3 Hurler-Scheie Syndrome21
4 Scheie Syndrome21
5 Mucopolysaccharidosis, Mps-I-S23

Anatomical Context for Mucopolysaccharidosis I

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Sources:
32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis I:

34
Bone, Bone marrow, Eye, Liver, T cells, Brain, Lung, Skin, Testes

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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38MGI
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MGI Mouse Phenotypes related to Mucopolysaccharidosis I:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.8ELN, IDUA, TLR4
2MP:00053708.7LCAT, IDUA, TLR4
3MP:00053678.6TLR4, IDUA, LCAT
4MP:00053698.5TLR4, IDUA, ELN
5MP:00053918.5LCAT, IDUA, TLR4
6MP:00053858.1LCAT, ELN, IDUA, TLR4
7MP:00053768.1TLR4, IDUA, ELN, LCAT

Publications for Mucopolysaccharidosis I

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Sources:
53PubMed
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Articles related to Mucopolysaccharidosis I:

(show top 50)    (show all 118)
idTitleAuthorsYear
1
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. (23465405)
2013
2
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (23562162)
2013
3
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. (22983812)
2013
4
Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs. (23563357)
2013
5
Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. (23167761)
2013
6
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. (21480867)
2012
7
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. (22424341)
2012
8
Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. (21436264)
2011
9
Evaluation of I+-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis. (21786328)
2011
10
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. (21383673)
2011
11
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I. (21482163)
2011
12
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. (19926322)
2010
13
Introduction to Brazilian Guidelines to Diagnosis, Treatment,and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease. (19810165)
2009
14
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. (19038563)
2009
15
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. (18479957)
2008
16
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. (18707908)
2008
17
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. (18796143)
2008
18
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. (19042989)
2008
19
Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). (18546328)
2008
20
Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI. (18509743)
2008
21
Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. (17311010)
2007
22
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. (17043838)
2007
23
Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation. (17083538)
2006
24
Prediction of neuropathology in mucopolysaccharidosis I patients. (15639191)
2005
25
Laronidase treatment of mucopolysaccharidosis I. (15691212)
2005
26
Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. (15947088)
2005
27
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. (16435195)
2005
28
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model. (16435197)
2005
29
Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study. (15111796)
2004
30
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. (14718373)
2004
31
Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. (14715900)
2004
32
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population. (12818523)
2003
33
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. (12747881)
2003
34
Idiopathic hyperammonemia following an unrelated cord blood transplant for mucopolysaccharidosis I. (12481230)
2003
35
Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. (12447720)
2002
36
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. (10328965)
1999
37
The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. (10084733)
1998
38
Stereological and morphometric analysis of dermal fibroblasts before and after bone marrow transplantation in a case of mucopolysaccharidosis I Scheie phenotype. (8372638)
1993
39
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis I. (1339393)
1992
40
Cloning and characterization of cDNA encoding canine alpha-L-iduronidase. mRNA deficiency in mucopolysaccharidosis I dog. (1551868)
1992
41
Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation. (1950476)
1991
42
Cardiovascular changes after bone marrow transplantation in dogs with mucopolysaccharidosis I. (2150744)
1990
43
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
44
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). (3114705)
1987
45
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system. (3100576)
1987
46
Meningiomas in young cats with mucopolysaccharidosis I. (6415241)
1983
47
The pathology of the feline model of mucopolysaccharidosis I. (6407329)
1983
48
Bone cysts in mucopolysaccharidosis I S (Scheie syndrome). (6766518)
1980
49
Alpha-L-iduronidase deficiency in a cat: a model of mucopolysaccharidosis I. (117422)
1979
50
Acute glaucoma in systemic mucopolysaccharidosis I-S. (125545)
1975

Variations for Mucopolysaccharidosis I

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis I:

65 (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

Clinvar genetic disease variations for Mucopolysaccharidosis I:

1
id Gene Name Type Significance SNP ID Assembly Location
1IDUANM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys)single nucleotide variantPathogenicGRCh37Chr 4, 998093: 998093
2IDUANM_000203.4(IDUA): c.208C> T (p.Gln70Ter)single nucleotide variantPathogenicrs121965020GRCh37Chr 4, 981646: 981646
3IDUANM_000203.4(IDUA): c.1598C> G (p.Pro533Arg)single nucleotide variantPathogenicrs121965021GRCh37Chr 4, 997206: 997206
4IDUAIDUA, IVS5AS, G-A, -7single nucleotide variantPathogenic
5IDUANM_000203.4(IDUA): c.192C> A (p.Tyr64Ter)single nucleotide variantPathogenicrs121965022GRCh37Chr 4, 981630: 981630
6IDUANM_000203.4(IDUA): c.928C> T (p.Gln310Ter)single nucleotide variantPathogenicrs121965023GRCh37Chr 4, 995905: 995905
7IDUANM_000203.4(IDUA): c.1096A> C (p.Thr366Pro)single nucleotide variantPathogenicrs121965024GRCh37Chr 4, 996180: 996180
8IDUANM_000203.4(IDUA): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs121965025GRCh37Chr 4, 998080: 998080
9IDUANM_000203.4(IDUA): c.1475G> C (p.Arg492Pro)single nucleotide variantPathogenicrs121965026GRCh37Chr 4, 996896: 996896
10IDUANM_000203.4(IDUA): c.1037T> G (p.Leu346Arg)single nucleotide variantPathogenicrs121965033GRCh37Chr 4, 996121: 996121

Expression for genes affiliated with Mucopolysaccharidosis I

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2BioGPS, 16Gene 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:
46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Mucopolysaccharidosis I according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1dermatan46 2510.7ELN, IDUA
2mannose469.7TLR4, IDUA
3dermatan sulfate469.7ELN, IDUA
4glycosaminoglycan469.7ELN, IDUA
5tgf beta1469.7TLR4, ELN
6carbohydrates469.6ELN, TLR4
7heparan sulfate46 2510.6ELN, IDUA
8nacl469.6ELN, IDUA
9n acetylcysteine469.5TLR4, ELN
10docosahexaenoic acid46 30 2511.5TLR4, LCAT
11myristic acid46 25 1211.5TLR4, LCAT
12pravastatin46 52 30 25 1213.5LCAT, TLR4
13vitamin d469.5ELN, TLR4
14palmitate469.5LCAT, TLR4
15atorvastatin46 52 30 25 1213.5LCAT, TLR4
16fibrinogen469.4ELN, TLR4
17simvastatin46 52 62 30 25 1214.4LCAT, TLR4
18cyclosporin a46 30 6211.4IDUA, TLR4
19diisopropylfluorophosphate469.4LCAT, ELN
20sodium dodecylsulfate469.4ELN, LCAT
21histamine46 30 2511.3ELN, TLR4
22phosphatidylcholine469.3ELN, LCAT
23vitamin a46 25 1211.3LCAT, ELN
24actinomycin d469.2ELN, TLR4
25polysaccharide469.2TLR4, IDUA, ELN
26ascorbic acid46 2510.2LCAT, ELN
27phospholipid469.2TLR4, LCAT
28genistein46 30 62 3 25 1214.0ELN, TLR4
29heparin46 30 25 1211.9LCAT, ELN, IDUA
30alanine468.9LCAT, ELN, TLR4
31cysteine468.8LCAT, ELN, TLR4
32serine468.7LCAT, ELN, TLR4
33dexamethasone46 52 30 1211.4LCAT, ELN, IDUA, TLR4

GO Terms for genes affiliated with Mucopolysaccharidosis I

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Products for genes affiliated with Mucopolysaccharidosis I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis I

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet