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
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Summaries for Mucopolysaccharidosis I

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: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:65 Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler\'s disease, also gargoylism,... more...

Description from OMIM:47 607015,607016,607014

GeneReviews summary for mps1

Aliases & Classifications for Mucopolysaccharidosis I

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8Disease Ontology, 21Genetics Home Reference, 31LifeMap Discovery™, 62UMLS, 43NIH Rare Diseases, 20GeneTests, 49Orphanet, 22GTR, 45Novoseek, 9diseasecard, 47OMIM, 19GeneReviews, 58SNOMED-CT, 35MeSH, 40NCIt, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
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 31 62
mucopolysaccharidosis type i 19 43 20 22 21 45
hurler-scheie syndrome 8 43 20 21 45 62
hurler syndrome 8 43 20 22 21
scheie syndrome 8 43 20 21 49
idua deficiency 19 43 21
mps i 19 43 21
alpha-l-iduronidase deficiency 19 43
mucopolysaccharidosis, mps-i 8 22
mucopolysaccharidosis is 9 47
iduronidase deficiency disease 8
mucopolysaccharidosis type is 49
mucopolysaccharidosis type 1s 49
mucopolysaccharidosis, type 1 8
pfaundler-hurler syndrome 62
mucopolysaccharidosis v 62
mps i - hurler syndrome 8
lipochondrodystrophy 8
attenuated mps i 43
severe mps i 43
mps i h-s 21
mps i s 21
mps i h 21
mps1s 49
mps 1 43


External Ids:

Disease Ontology8 DOID:12802
MeSH35 D008059
NCIt40 C85053
SNOMED-CT via Orphanet59 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 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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

607016

Clinical features from OMIM:

607015,607016,607014

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Genetic Tests for Mucopolysaccharidosis I

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Sources:
20GeneTests, 22GTR
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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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31LifeMap Discovery™, 33MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis I:

33
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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37MGI
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MGI Mouse Phenotypes related to Mucopolysaccharidosis I:

37
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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52PubMed
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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:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis I:

64 (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, 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:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 3BitterDB
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Compounds related to Mucopolysaccharidosis I according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1dermatan45 2410.7ELN, IDUA
2mannose459.7TLR4, IDUA
3dermatan sulfate459.7ELN, IDUA
4glycosaminoglycan459.7ELN, IDUA
5tgf beta1459.7TLR4, ELN
6carbohydrates459.6ELN, TLR4
7heparan sulfate45 2410.6ELN, IDUA
8nacl459.6ELN, IDUA
9n acetylcysteine459.5TLR4, ELN
10docosahexaenoic acid45 29 2411.5TLR4, LCAT
11myristic acid45 24 1111.5TLR4, LCAT
12pravastatin45 51 29 24 1113.5LCAT, TLR4
13vitamin d459.5ELN, TLR4
14palmitate459.5LCAT, TLR4
15atorvastatin45 51 29 24 1113.5LCAT, TLR4
16fibrinogen459.4ELN, TLR4
17simvastatin45 51 61 29 24 1114.4LCAT, TLR4
18cyclosporin a45 29 6111.4IDUA, TLR4
19diisopropylfluorophosphate459.4LCAT, ELN
20sodium dodecylsulfate459.4ELN, LCAT
21histamine45 29 2411.3ELN, TLR4
22phosphatidylcholine459.3ELN, LCAT
23vitamin a45 24 1111.3LCAT, ELN
24actinomycin d459.2ELN, TLR4
25polysaccharide459.2TLR4, IDUA, ELN
26ascorbic acid45 2410.2LCAT, ELN
27phospholipid459.2TLR4, LCAT
28genistein45 29 61 3 24 1114.0ELN, TLR4
29heparin45 29 24 1111.9LCAT, ELN, IDUA
30alanine458.9LCAT, ELN, TLR4
31cysteine458.8LCAT, ELN, TLR4
32serine458.7LCAT, ELN, TLR4
33dexamethasone45 51 29 1111.4LCAT, 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

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet