MPS1
MCID: MCP002
MIFTS: 78

Mucopolysaccharidosis I (MPS1) malady

Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Skin diseases categories
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Summaries for Mucopolysaccharidosis I

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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 based summary: Mucopolysaccharidosis I, also known as mucopolysaccharidosis type i, is related to mucopolysaccharidosis and mucopolysaccharidosis ih/s, and has symptoms including coarse face, corneal clouding/opacity/vascularisation and nasal congestion/sinusitis/rhinitis/rhinorrhea. 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 liver, 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...

Descriptions from OMIM:46 607016,607014,607015

GeneReviews summary for mps1

Aliases & Classifications for Mucopolysaccharidosis I

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 21Genetics Home Reference, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 44Novoseek, 22GTR, 48Orphanet, 9diseasecard, 46OMIM, 19GeneReviews, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
See all sources

Mucopolysaccharidosis I, Aliases & Descriptions:

Name: Mucopolysaccharidosis I 30 8 21 62
Mucopolysaccharidosis Type I 19 42 20 22 21 44 48 62
Hurler-Scheie Syndrome 8 42 20 21 44 62
Hurler Syndrome 8 42 20 22 21
Scheie Syndrome 8 42 20 21 48
Alpha-L-Iduronidase Deficiency 19 42 48 62
Mps I 19 42 21 62
Idua Deficiency 19 42 21
Iduronidase Deficiency Disease 8 62
Mucopolysaccharidosis is 9 46
Mucopolysaccharidosis Type 1s 48
Mucopolysaccharidosis Type is 48
Mucopolysaccharidosis, Type 1 8
Mucopolysaccharidosis Type 1 48
 
Mucopolysaccharidosis, Mps-I 8
Pfaundler-Hurler Syndrome 62
Mucopolysaccharidosis V 62
Mps I - Hurler Syndrome 8
Lipochondrodystrophy 8
Attenuated Mps I 42
Severe Mps I 42
Mps I H-S 21
Mps I S 21
Mps I H 21
Mps1s 48
Mps 1 42
Mps1 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
mucopolysaccharidosis type i:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Child / adolescent
scheie syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Adolescence / Young adulthood; Age of death: Elderly


External Ids:

Disease Ontology8 DOID:12802
NCIt39 C85053
MeSH34 D008059
MESH via Orphanet35 D008059
ICD10 via Orphanet26 E76.0
UMLS via Orphanet63 C0023786, C2713321
ICD1025 E76.0

Related Diseases for Mucopolysaccharidosis I

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Diseases in the Mucopolysaccharidosis I family:

Mucopolysaccharidosis Ii Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iv Mucopolysaccharidosis Vi
Mucopolysaccharidosis Ix Mucopolysaccharidosis
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis31.6IDUA, LCAT
2mucopolysaccharidosis ih/s10.6
3mucopolysaccharidosis ih10.5
4metachromatic leukodystrophy10.4
5leukodystrophy10.4
6hypertension10.3
7adrenoleukodystrophy10.3
8melanoma10.3
9hematopoietic stem cell transplantation10.2
10cervicitis10.2
11craniosynostosis10.2
12factor vii deficiency10.2
13portal hypertension10.2
14artery disease10.2
15endocarditis10.2
16neurologic diseases10.2
17nodular regenerative hyperplasia10.2
18aneurysm10.2
19carpal tunnel syndrome10.1
20arthritis10.1
21macular corneal dystrophy10.1
22pseudopapilledema10.1
23cerebritis10.1
24corneal dystrophy10.1
25myopathy10.1
26trigger thumb10.1
27thrombocytopenia10.1TLR4, IDUA
28diarrhea10.1
29mongolian spot10.1
30lissencephaly10.1
31hydrocephalus10.1
32fabry disease10.1
33endocardial fibroelastosis10.1
34dysostosis10.1
35eye disease10.1
36meningioma10.1
37ataxia10.1
38blindness10.1
39pancreatic ductal adenocarcinoma10.0
40adenocarcinoma10.0
41breast cancer10.0
42pancreatitis10.0
43glioblastoma10.0
44galactosemia10.0LCAT, TLR4
45mental retardation10.0IDUA, ELN
46coronary artery anomaly9.9LCAT, TLR4
47metabolic syndrome x9.9LCAT, IDUA
48cystic fibrosis9.9ELN, TLR4
49insulin resistance9.9LCAT, TLR4
50vascular disease9.9ELN, LCAT

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



Diseases related to mucopolysaccharidosis i

Symptoms for Mucopolysaccharidosis I

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Symptoms by clinical synopsis from OMIM:

607016

Clinical features from OMIM:

607016,607014,607015

Symptoms:

48 (show all 64)
  • coarse face
  • corneal clouding/opacity/vascularisation
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • chronic/relapsing otitis
  • scoliosis
  • abnormal vertebral size/shape
  • herniae
  • inguinal/inguinoscrotal/crural hernia
  • claw hand/retracted fingers
  • hirsutism/hypertrichosis/increased body hair
  • storage liver disease
  • splenomegaly
  • abnormal cry/voice/phonation disorder/nasal speech
  • metaphyseal anomaly
  • epiphyseal anomaly
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • short stature/dwarfism/nanism
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • dolichocephaly/scaphocephaly
  • low hair line-front
  • face/facial anomalies
  • broad cheeks/cherub-like/cherubin face
  • glaucoma
  • retinopathy
  • long/large/bulbous nose
  • depressed nasal bridge
  • flared/thick ala nasi
  • thick lips
  • protruding lips
  • thickened/hypertrophic/fibromatous gingivae
  • complete/partial microdontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hearing loss/hypoacusia/deafness
  • sensorineural deafness/hearing loss
  • wide rib cage/thorax
  • tonsil anomaly/hypertrophy/adenoiditis
  • malabsorption/chronic diarrhea/steatorrhea
  • apnea/sleep apnea
  • cough
  • repeat respiratory infections
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • articular/joint pain/arthralgia
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • rachidian/spine canal stenosis
  • cardiac valvulopathy
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • cardiomyopathy/hypertrophic/dilated
  • heart/cardiac failure
  • hydrocephaly
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • osteonecrosis/bone infarction
  • joint dislocation/subluxation
  • tendon rupture/tendinitis/bursitis/tenosynovitis
  • nerve conduction abnormality
  • acute palsy
  • anomalies of bones/skeletal anomalies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • macrostomia/big mouth
  • hypertonia/spasticity/rigidity/stiffness

HPO human phenotypes related to Mucopolysaccharidosis I:

(show all 82)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 coarse facial features hallmark (90%) HP:0000280
3 otitis media hallmark (90%) HP:0000388
4 abnormality of the metaphyses hallmark (90%) HP:0000944
5 hypertrichosis hallmark (90%) HP:0000998
6 limitation of joint mobility hallmark (90%) HP:0001376
7 abnormality of the voice hallmark (90%) HP:0001608
8 splenomegaly hallmark (90%) HP:0001744
9 scoliosis hallmark (90%) HP:0002650
10 abnormal form of the vertebral bodies hallmark (90%) HP:0003312
11 hernia of the abdominal wall hallmark (90%) HP:0004299
12 short stature hallmark (90%) HP:0004322
13 abnormality of the epiphyses hallmark (90%) HP:0005930
14 opacification of the corneal stroma hallmark (90%) HP:0007759
15 mucopolysacchariduria hallmark (90%) HP:0008155
16 glaucoma hallmark (90%) HP:0000501
17 decreased nerve conduction velocity hallmark (90%) HP:0000762
18 limitation of joint mobility hallmark (90%) HP:0001376
19 abnormality of the aortic valve hallmark (90%) HP:0001646
20 opacification of the corneal stroma hallmark (90%) HP:0007759
21 mucopolysacchariduria hallmark (90%) HP:0008155
22 cerebral palsy hallmark (90%) HP:0100021
23 thick lower lip vermilion typical (50%) HP:0000179
24 gingival overgrowth typical (50%) HP:0000212
25 everted lower lip vermilion typical (50%) HP:0000232
26 macrocephaly typical (50%) HP:0000256
27 dolichocephaly typical (50%) HP:0000268
28 full cheeks typical (50%) HP:0000293
29 low anterior hairline typical (50%) HP:0000294
30 sensorineural hearing impairment typical (50%) HP:0000407
31 abnormality of the nasal alae typical (50%) HP:0000429
32 retinopathy typical (50%) HP:0000488
33 glaucoma typical (50%) HP:0000501
34 microdontia typical (50%) HP:0000691
35 malabsorption typical (50%) HP:0002024
36 apnea typical (50%) HP:0002104
37 recurrent respiratory infections typical (50%) HP:0002205
38 developmental regression typical (50%) HP:0002376
39 arthralgia typical (50%) HP:0002829
40 abnormality of the hip bone typical (50%) HP:0003272
41 paresthesia typical (50%) HP:0003401
42 abnormal nasal morphology typical (50%) HP:0005105
43 depressed nasal bridge typical (50%) HP:0005280
44 cognitive impairment typical (50%) HP:0100543
45 enlarged thorax typical (50%) HP:0100625
46 abnormality of the tonsils typical (50%) HP:0100765
47 thick lower lip vermilion typical (50%) HP:0000179
48 everted lower lip vermilion typical (50%) HP:0000232
49 coarse facial features typical (50%) HP:0000280
50 splenomegaly typical (50%) HP:0001744
51 hepatomegaly typical (50%) HP:0002240
52 hydrocephalus occasional (7.5%) HP:0000238
53 visual impairment occasional (7.5%) HP:0000505
54 optic atrophy occasional (7.5%) HP:0000648
55 joint dislocation occasional (7.5%) HP:0001373
56 congestive heart failure occasional (7.5%) HP:0001635
57 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
58 abnormality of the aortic valve occasional (7.5%) HP:0001646
59 spinal canal stenosis occasional (7.5%) HP:0003416
60 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
61 aseptic necrosis occasional (7.5%) HP:0010885
62 abnormal tendon morphology occasional (7.5%) HP:0100261
63 wide mouth occasional (7.5%) HP:0000154
64 sinusitis occasional (7.5%) HP:0000246
65 sensorineural hearing impairment occasional (7.5%) HP:0000407
66 hypertonia occasional (7.5%) HP:0001276
67 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
68 glaucoma rare (5%) HP:0000501
69 retinal degeneration rare (5%) HP:0000546
70 autosomal recessive inheritance HP:0000007
71 broad face HP:0000283
72 full cheeks HP:0000293
73 mandibular prognathia HP:0000303
74 wide nose HP:0000445
75 short neck HP:0000470
76 aortic valve stenosis HP:0001650
77 aortic regurgitation HP:0001659
78 pes cavus HP:0001761
79 genu valgum HP:0002857
80 obstructive sleep apnea HP:0002870
81 depressed nasal bridge HP:0005280
82 corneal opacity HP:0007957

Drugs & Therapeutics for Mucopolysaccharidosis I

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Genetic Tests for Mucopolysaccharidosis I

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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

Anatomical Context for Mucopolysaccharidosis I

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MalaCards organs/tissues related to Mucopolysaccharidosis I:

32
Bone, Bone marrow, Liver, Eye, Heart, Tonsil, Brain, Lung, Skin, 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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MGI Mouse Phenotypes related to Mucopolysaccharidosis I:

36
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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Articles related to Mucopolysaccharidosis I:

(show top 50)    (show all 123)
idTitleAuthorsYear
1
Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I. (25027660)
2014
2
Effects of Neonatal Enzyme Replacement Therapy and Simvastatin Treatment on Cervical Spine Disease in Mucopolysaccharidosis I Dogs. (24898323)
2014
3
Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. (23465405)
2013
4
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (23562162)
2013
5
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits. (22983812)
2013
6
Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs. (23563357)
2013
7
Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. (23167761)
2013
8
Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis. (21480867)
2012
9
High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. (22424341)
2012
10
Ocular lesions in canine mucopolysaccharidosis I and response to enzyme replacement therapy. (21436264)
2011
11
Evaluation of I+-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis. (21786328)
2011
12
Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. (21383673)
2011
13
Laronidase replacement therapy improves myocardial function in mucopolysaccharidosis I. (21482163)
2011
14
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. (19926322)
2010
15
Introduction to Brazilian Guidelines to Diagnosis, Treatment,and Monitoring for Gaucher Disease, Fabry Disease, Mucopolysaccharidosis I, and Pompe Disease. (19810165)
2009
16
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. (19038563)
2009
17
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. (18479957)
2008
18
Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. (18707908)
2008
19
The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. (18796143)
2008
20
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. (19042989)
2008
21
Decreased corneal opacity and improved vision in a patient with mucopolysaccharidosis I (Hurler-Scheie) treated with enzyme replacement therapy (laronidase, Aldurazyme). (18546328)
2008
22
Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI. (18509743)
2008
23
Improvements in mucopolysaccharidosis I mice after adult retroviral vector-mediated gene therapy with immunomodulation. (17311010)
2007
24
Enzyme replacement therapy in two patients with an advanced severe (Hurler) phenotype of mucopolysaccharidosis I. (17043838)
2007
25
Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation. (17083538)
2006
26
Prediction of neuropathology in mucopolysaccharidosis I patients. (15639191)
2005
27
Laronidase treatment of mucopolysaccharidosis I. (15691212)
2005
28
Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. (15947088)
2005
29
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. (16435195)
2005
30
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model. (16435197)
2005
31
Craniofacial abnormalities in a murine knock-out model of mucopolysaccharidosis I H: a computed tomography and anatomic study. (15111796)
2004
32
Glycosaminoglycan degradation fragments in mucopolysaccharidosis I. (14718373)
2004
33
Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I. (14715900)
2004
34
Mucopolysaccharidosis I: a comparative study of haplotypes Eco47III-NspI sites frequencies in patients and healthy subjects of Mexican population. (12818523)
2003
35
Immune tolerance after long-term enzyme-replacement therapy among patients who have mucopolysaccharidosis I. (12747881)
2003
36
Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. (12447720)
2002
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
Impaired urea clearance in canine mucopolysaccharidosis I. (15221703)
1987
45
Radiological findings in patients with mucopolysaccharidosis I H/S (Hurler-Scheie syndrome). (3114705)
1987
46
Bone marrow transplantation in canine mucopolysaccharidosis I. Effects within the central nervous system. (3100576)
1987
47
Meningiomas in young cats with mucopolysaccharidosis I. (6415241)
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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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:

6
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.1598C> G (p.Pro533Arg)single nucleotide variantPathogenicrs121965021GRCh37Chr 4, 997206: 997206
3IDUAIDUA, IVS5AS, G-A, -7single nucleotide variantPathogenic
4IDUANM_000203.4(IDUA): c.192C> A (p.Tyr64Ter)single nucleotide variantPathogenicrs121965022GRCh37Chr 4, 981630: 981630
5IDUANM_000203.4(IDUA): c.928C> T (p.Gln310Ter)single nucleotide variantPathogenicrs121965023GRCh37Chr 4, 995905: 995905
6IDUANM_000203.4(IDUA): c.1096A> C (p.Thr366Pro)single nucleotide variantPathogenicrs121965024GRCh37Chr 4, 996180: 996180
7IDUANM_000203.4(IDUA): c.1861C> T (p.Arg621Ter)single nucleotide variantPathogenicrs121965025GRCh37Chr 4, 998080: 998080
8IDUANM_000203.4(IDUA): c.1475G> C (p.Arg492Pro)single nucleotide variantPathogenicrs121965026GRCh37Chr 4, 996896: 996896
9IDUANM_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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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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Compounds related to Mucopolysaccharidosis I according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1dermatan44 2410.7ELN, IDUA
2mannose449.7TLR4, IDUA
3dermatan sulfate449.7ELN, IDUA
4glycosaminoglycan449.7ELN, IDUA
5tgf beta1449.7TLR4, ELN
6carbohydrates449.6ELN, TLR4
7heparan sulfate44 2410.6ELN, IDUA
8nacl449.6ELN, IDUA
9n acetylcysteine449.5TLR4, ELN
10docosahexaenoic acid44 28 2411.5TLR4, LCAT
11myristic acid44 24 1111.5TLR4, LCAT
12pravastatin44 50 28 24 1113.5LCAT, TLR4
13vitamin d449.5ELN, TLR4
14palmitate449.5LCAT, TLR4
15atorvastatin44 50 28 24 1113.5LCAT, TLR4
16fibrinogen449.4ELN, TLR4
17simvastatin44 50 61 28 24 1114.4LCAT, TLR4
18cyclosporin a44 28 6111.4IDUA, TLR4
19diisopropylfluorophosphate449.4LCAT, ELN
20sodium dodecylsulfate449.4ELN, LCAT
21histamine44 28 2411.3ELN, TLR4
22phosphatidylcholine449.3ELN, LCAT
23vitamin a44 24 1111.3LCAT, ELN
24actinomycin d449.2ELN, TLR4
25polysaccharide449.2TLR4, IDUA, ELN
26ascorbic acid44 2410.2LCAT, ELN
27phospholipid449.2TLR4, LCAT
28genistein44 28 61 2 24 1114.0ELN, TLR4
29heparin44 28 24 1111.9LCAT, ELN, IDUA
30alanine448.9LCAT, ELN, TLR4
31cysteine448.8LCAT, ELN, TLR4
32serine448.7LCAT, ELN, TLR4
33dexamethasone44 50 28 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
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Sources for Mucopolysaccharidosis I

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet