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

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

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

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
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure. (24088413)
2013
2
Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. (23167761)
2013
3
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life. (23837464)
2013
4
Features of brain MRI in dogs with treated and untreated mucopolysaccharidosis type I. (23582423)
2013
5
Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of I+-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. (24266751)
2013
6
Insights into mucopolysaccharidosis I from the structure and action of I+-L-iduronidase. (24036510)
2013
7
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. (21480867)
2012
8
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. (22424341)
2012
9
Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: comment on pathogenesis of a novel complication. (22732207)
2012
10
Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening. (22926196)
2012
11
Increased longevity and metabolic correction following syngeneic BMT in a murine model of mucopolysaccharidosis type I. (22179554)
2012
12
Valve surgery in a mucopolysaccharidosis type I patient: early prosthetic valve endocarditis. (21820914)
2012
13
Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential. (22548043)
2012
14
Recombinant encapsulated cells overexpressing alpha-L-iduronidase correct enzyme deficiency in human mucopolysaccharidosis type I cells. (21778683)
2012
15
Renal failure associated with mucopolysaccharidosis type I in a cat from a MPS I research colony. (22330352)
2011
16
Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report. (22114460)
2011
17
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. (21831279)
2011
18
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles. (21394825)
2011
19
Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome). (21037085)
2011
20
Histopathologic changes of the ear in canine models of mucopolysaccharidosis types I and VII. (20930106)
2011
21
Glycosaminoglycan storage in neuroanatomical regions of mucopolysaccharidosis I dogs following intrathecal recombinant human iduronidase. (21749451)
2011
22
Corneal hysteresis and intraocular pressure in mucopolysaccharidosis I and VI. (21955585)
2011
23
Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. (20217237)
2010
24
Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein. (19396826)
2009
25
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. (18479957)
2008
26
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression. (18792977)
2008
27
Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy. (17920576)
2008
28
First pregnancy and life after preimplantation genetic diagnosis by polar body analysis for mucopolysaccharidosis type I. (16478590)
2006
29
Laronidase treatment of mucopolysaccharidosis I. (15691212)
2005
30
Atypical microbial infections of digestive tract may contribute to diarrhea in mucopolysaccharidosis patients: a MPS I case study. (15882450)
2005
31
Enzyme replacement therapy in mucopolysaccharidosis type I. (15895714)
2005
32
Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study. (15111796)
2004
33
Treatment of respiratory system (not just lung!) abnormalities in Mucopolysaccharidosis I. (15126984)
2004
34
Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. (12447720)
2002
35
Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report. (12161377)
2002
36
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. (10328965)
1999
37
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. (10356309)
1999
38
The use of partially HLA-mismatched donors for allogeneic transplantation in patients with mucopolysaccharidosis-I. (10084733)
1998
39
Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union. (9787109)
1998
40
Myoblast gene therapy in canine mucopolysaccharidosis. I: Abrogation by an immune response to alpha-L-iduronidase. (8864760)
1996
41
Stereological and morphometric analysis of dermal fibroblasts before and after bone marrow transplantation in a case of mucopolysaccharidosis I Scheie phenotype. (8372638)
1993
42
Two novel mutations causing mucopolysaccharidosis type I detected by single strand conformational analysis of the alpha-L-iduronidase gene. (8401515)
1993
43
Mucopolysaccharidosis I and intracranial tumor in a patient with high-pressure hydrocephalus. (8233684)
1993
44
Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele. (1551679)
1992
45
A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. (1301196)
1992
46
Mucopolysaccharidosis I presenting with endocardial fibroelastosis of infancy. (2500843)
1989
47
Long-term effects of bone marrow transplantation in dogs with mucopolysaccharidosis I. (2493739)
1989
48
A further contribution to the knowledge of mucopolysaccharidosis I H/S compound. Presentation of two cases and review of the literature. (3096273)
1986
49
Prenatal diagnosis of mucopolysaccharidosis I: A special difficulty arising from an unusually low enzyme activity in mother's cells. (3921950)
1985
50
The pathology of the feline model of mucopolysaccharidosis I. (6407329)
1983

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