MCID: MCP037
MIFTS: 65

Mucopolysaccharidosis is

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Fetal diseases, Oral diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis is

MalaCards integrated aliases for Mucopolysaccharidosis is:

Name: Mucopolysaccharidosis is 54 50 13 38
Mucopolysaccharidosis Type I 23 50 24 25 56 29 52
Scheie Syndrome 12 50 24 25 56 71 14
Alpha-L-Iduronidase Deficiency 23 50 24 56 71 69
Mucopolysaccharidosis I 38 12 25 42 14 69
Hurler-Scheie Syndrome 12 50 24 25 69
Mucopolysaccharidosis Type is 12 50 56 71
Hurler Syndrome 12 50 24 25
Idua Deficiency 23 50 24 25
Mps I 23 50 24 25
Mucopolysaccharidosis Type 1s 12 50 56
Mps1s 50 56 71
Mucopolysaccharidosis Type V 12 71
Mps is 24 71
Mpsis 50 56
Mps1 24 56
Scheie Syndrome Formerly Known As Mucopoly-Saccharidosis Type V) 50
Mucopolysaccharidosis Type V, Formerly 50
Mucopolysaccharidosis Type 1h/s 50
Mucopolysaccharidosis Type Ih/s 50
Iduronidase Deficiency Disease 12
Mucopolysaccharidosis, Type 1 12
Mucopolysaccharidosis Type 1h 50
Mucopolysaccharidosis Type Ih 50
Mucopolysaccharidosis, Mps-I 12
Mucopolysaccharidosis Type 1 56
Mucopolysaccharidosis Ih/s 50
Pfaundler-Hurler Syndrome 69
Mucopolysaccharidosis Ih 50
Mucopolysaccharidosis 1s 71
Mps I - Hurler Syndrome 12
Mucopolysaccharidosis V 69
Iduronidase, Alpha-L- 13
Lipochondrodystrophy 12
Intermediate Mps 1 24
Attenuated Mps I 50
Mps V, Formerly 50
Hurler Disease 50
Mps5, Formerly 50
Severe Mps I 50
Severe Mps 1 24
Mild Mps 1 24
Mps I H-S 25
Mps 1h/s 24
Mps Ih/s 24
Mps1-Hs 50
Mps1h/s 50
Mpsih/s 50
Mps I H 25
Mps I S 25
Mps1-H 50
Mps1-S 50
Mps 1h 24
Mps Ih 24
Mps 1s 24
Mps-is 71
Mps1h 50
Mpsih 50
Mps 1 50
Mps V 71
Mpsi 56

Characteristics:

Orphanet epidemiological data:

56
mucopolysaccharidosis type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/1000000 (Germany),1-9/100000 (Portugal),1-9/100000 (Netherlands),1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/100000 (Norway),1-5/10000 (Norway),1-9/1000000 (Denmark),1-9/100000 (Denmark),1-9/1000000 (Ireland),1-9/100000 (United Kingdom),1-9/1000000 (Tunisia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Canada),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (Poland); Age of onset: All ages; Age of death: adolescent,late childhood;
scheie syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Canada),<1/1000000 (United Kingdom); Age of onset: Adolescent,Adult,Childhood; Age of death: elderly;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
alpha-l-iduronidase activity is <1% for all forms of mps1
mps1 types are distinguished clinically by age of onset and progression or by mutation(s)
onset of symptoms after age 5
diagnosis typically between age 10-20 years


HPO:

32
mucopolysaccharidosis is:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis is

OMIM : 54
The mucopolysaccharidoses are a group of inherited disorders caused by a lack of specific lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs), or mucopolysaccharides. The accumulation of partially degraded GAGs causes interference with cell, tissue, and organ function. Deficiency of alpha-L-iduronidase can result in a wide range of phenotypic involvement with 3 major recognized clinical entities: Hurler (MPS IH; 607014), Hurler-Scheie (MPS IH/S; 607015), and Scheie (MPS IS) syndromes. Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the MPS I clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression (McKusick, 1972). (607016)

MalaCards based summary : Mucopolysaccharidosis is, also known as mucopolysaccharidosis type i, is related to mucopolysaccharidosis ih/s and dysostosis, and has symptoms including short stature, scoliosis and visual impairment. An important gene associated with Mucopolysaccharidosis is is IDUA (Iduronidase, Alpha-L-), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Aldurazyme and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and bone marrow, and related phenotypes are Decreased viability in esophageal squamous lineage and cellular

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on mucopolysaccharidosis type i.

UniProtKB/Swiss-Prot : 71 Mucopolysaccharidosis 1S: A mild form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1S may have little or no neurological involvement, normal stature and life span, but present development of joints stiffness, mild hepatosplenomegaly, aortic valve disease and corneal clouding.

Genetics Home Reference : 25 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.

Disease Ontology : 12 A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.

GeneReviews: NBK1162

Related Diseases for Mucopolysaccharidosis is

Diseases in the Mucopolysaccharidosis Ih family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis is Mucopolysaccharidosis Ih/s
Mucopolysaccharidosis Type Vi Mucopolysaccharidosis Vii
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Type Iiia
Mucopolysaccharidosis Ii Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iv Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis is via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis ih/s 28.0 CTSA GAA GALNS GLA GLB1 HEXA
2 dysostosis 27.7 CTSA GLA GLB1 HEXA
3 mucopolysaccharidosis ih 11.3
4 malignant migrating partial seizures of infancy 11.0
5 epileptic encephalopathy, early infantile, 6 10.9
6 myopathy - thyrotoxic 10.4 IDUA NAGLU
7 ciliary dyskinesia, primary, 29 10.1 GAA GALNS
8 petrositis 10.1 GLB1 HEXA
9 atrial septal defect 6 10.1 CTSA GAA
10 spina bifida occulta 10.1 CTSA GLB1
11 ectodermal dysplasia, hypohidrotic, with immune deficiency 10.0 GAA GALNS
12 bone angioendothelial sarcoma 10.0 CTSA GLB1
13 severe combined immunodeficiency due to ada deficiency 9.9 CTSA GLB1
14 deafness, autosomal dominant 20/26 9.9 GAA IDUA
15 purpura 9.9 GALNS GLB1 HEXA
16 muscle disorders 9.8 CTSA GALNS GLB1
17 cervicitis 9.8
18 tyrosinemia, type i 9.8 CTSA HEXA
19 prolidase deficiency 9.8 CTSA GAA HEXA
20 hematopoietic stem cell transplantation 9.7
21 fucosidosis 9.7 CTSA GAA HEXA
22 macular corneal dystrophy 9.7
23 arthritis 9.7
24 pseudopapilledema 9.7
25 corneal dystrophy 9.7
26 myopathy 9.7
27 3-hydroxyacyl-coa dehydrogenase deficiency 9.7 CTSA GAA HEXA
28 ependymoblastoma 9.7 CTSA GLA
29 hyperglobulinemic purpura 9.7 CTSA GLB1 HEXA
30 hemophagocytic lymphohistiocytosis, familial, 5 9.6 CTSA GLB1 HEXA
31 microcephaly 16, primary, autosomal recessive 9.6 GALNS HEXA IDUA NAGLU
32 ataxia 9.6
33 fabry disease 9.6
34 endocardial fibroelastosis 9.6
35 hydrocephalus 9.6
36 cerebritis 9.6
37 sleep disorder 9.6
38 eye disease 9.6
39 hyperammonemia 9.6
40 uterine corpus cancer 9.3 GLA GLB1 HEXA
41 ovarian clear cell malignant adenofibroma 8.8 GAA GALNS GLA HEXA IDUA
42 hypogonadotropic hypogonadism 16 with or without anosmia 8.7 GALNS GLA GLB1 HEXA IDUA
43 malignant glioma 7.4 CTSA GAA GALNS GLA GLB1 HEXA

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



Diseases related to Mucopolysaccharidosis is

Symptoms & Phenotypes for Mucopolysaccharidosis is

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
flat nasal bridge
broad nose
broad nares

Head And Neck- Neck:
short neck

Skeletal- Feet:
pes cavus

Head And Neck- Eyes:
retinal degeneration (in some patients)
glaucoma (in some patients)
corneal clouding, progressive

Skeletal- Hands:
carpal tunnel syndrome
claw-hand deformity

Respiratory- Airways:
obstructive airway disease

Skeletal- Spine:
lumbar-sacral spondylolisthesis

Skeletal- Limbs:
genu valgum

Head And Neck- Face:
broad face
full cheeks
mandibular prognathism

Neurologic- Central Nervous System:
normal intelligence
pachymeningitis cervicalis (cervical cord compression due to thickened dura)

Cardiovascular- Heart:
aortic stenosis
aortic regurgitation
abnormal mitral valve

Respiratory:
obstructive sleep apnea

Skeletal:
dysostosis multiplex, mild (in some patients)

Laboratory- Abnormalities:
excretion of heparan sulfate in urine
excretion of dermatan sulfate in urine


Clinical features from OMIM:

607016

Human phenotypes related to Mucopolysaccharidosis is:

56 32 (show top 50) (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
4 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
5 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
6 wide mouth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000154
7 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
8 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0001744
9 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
10 depressed nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0005280
11 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000280
12 glaucoma 56 32 occasional (7.5%) Frequent (79-30%),Very frequent (99-80%) HP:0000501
13 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
14 apnea 56 32 frequent (33%) Frequent (79-30%) HP:0002104
15 low anterior hairline 56 32 frequent (33%) Frequent (79-30%) HP:0000294
16 macrocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000256
17 inguinal hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000023
18 intellectual disability 56 32 frequent (33%) Frequent (79-30%) HP:0001249
19 full cheeks 56 32 frequent (33%) Frequent (79-30%) HP:0000293
20 spastic paraparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002313
21 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
22 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
23 joint stiffness 56 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0001387
24 cough 56 32 frequent (33%) Frequent (79-30%) HP:0012735
25 thick nasal alae 56 32 frequent (33%) Frequent (79-30%) HP:0009928
26 widely spaced teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000687
27 dolichocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000268
28 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
29 microdontia 56 32 frequent (33%) Frequent (79-30%) HP:0000691
30 sensorineural hearing impairment 56 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000407
31 retinopathy 56 32 frequent (33%) Frequent (79-30%) HP:0000488
32 cerebral palsy 56 32 hallmark (90%) Very frequent (99-80%) HP:0100021
33 rhinitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0012384
34 arthralgia 56 32 frequent (33%) Frequent (79-30%) HP:0002829
35 aortic regurgitation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001659
36 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0007957
37 chronic otitis media 56 32 hallmark (90%) Very frequent (99-80%) HP:0000389
38 joint dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001373
39 spinal canal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0003416
40 thick lower lip vermilion 56 32 frequent (33%) Frequent (79-30%) HP:0000179
41 split hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0001171
42 sinusitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000246
43 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
44 paresthesia 56 32 frequent (33%) Frequent (79-30%) HP:0003401
45 gingival overgrowth 56 32 frequent (33%) Frequent (79-30%) HP:0000212
46 everted lower lip vermilion 56 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000232
47 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
48 aseptic necrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0010885
49 thick vermilion border 56 32 frequent (33%) Frequent (79-30%) HP:0012471
50 mucopolysacchariduria 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008155

UMLS symptoms related to Mucopolysaccharidosis is:


joint stiffness, thick skin

GenomeRNAi Phenotypes related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.1 CTSA GALNS GLA HEXA IDUA UBR5

MGI Mouse Phenotypes related to Mucopolysaccharidosis is:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.06 NAGLU UBR5 CTSA GAA GALNS GLA
2 behavior/neurological MP:0005386 10.04 CTSA GAA GLA GLB1 HEXA IDUA
3 growth/size/body region MP:0005378 10.01 CTSA GAA GLA GLB1 HEXA IDUA
4 homeostasis/metabolism MP:0005376 9.97 CTSA GAA GALNS GLA GLB1 HEXA
5 cardiovascular system MP:0005385 9.95 CTSA GAA GLA IDUA NAGLU UBR5
6 craniofacial MP:0005382 9.83 UBR5 CTSA HEXA IDUA NAGLU
7 liver/biliary system MP:0005370 9.8 CTSA GLA GLB1 HEXA IDUA NAGLU
8 mortality/aging MP:0010768 9.8 HEXA IDUA NAGLU UBR5 CTSA GLA
9 renal/urinary system MP:0005367 9.7 CTSA GALNS GLA GLB1 HEXA IDUA
10 skeleton MP:0005390 9.43 GAA GALNS GLB1 HEXA IDUA NAGLU
11 vision/eye MP:0005391 9.02 GALNS GLA HEXA IDUA NAGLU

Drugs & Therapeutics for Mucopolysaccharidosis is

FDA approved drugs:

id Drug Name Active Ingredient(s) 17 Company Approval Date
1
Aldurazyme 17 LARONIDASE Genzyme May 2003

Drugs for Mucopolysaccharidosis is (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 62)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 1,Phase 2
2 Immunoglobulins Phase 4,Phase 1,Phase 2
3 Hormone Antagonists Phase 2, Phase 3
4 Hormones Phase 2, Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
6 Pharmaceutical Solutions Phase 3,Phase 1,Phase 2
7
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
8
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
9
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
10
Busulfan Approved, Investigational Phase 2 55-98-1 2478
11
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
12
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
13
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
14
alemtuzumab Approved, Investigational Phase 2 216503-57-0
15
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
16
Hydroxyurea Approved Phase 2 127-07-1 3657
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18 Thiotepa Approved Phase 2 52-24-4 5453
19
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
20
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Zinc Approved Phase 1, Phase 2 7440-66-6 32051 23994
23
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
24
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
25
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
26
Mesna Approved Phase 2 3375-50-6 598
27 Tocopherol Approved, Nutraceutical Phase 2
28
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
29 tannic acid Approved, Nutraceutical Phase 2
30 Antifungal Agents Phase 1, Phase 2
31 Anti-Infective Agents Phase 1, Phase 2
32 Antimetabolites Phase 1, Phase 2
33 Antimetabolites, Antineoplastic Phase 1, Phase 2
34 Antirheumatic Agents Phase 1, Phase 2
35 Calcineurin Inhibitors Phase 1, Phase 2
36 Cyclosporins Phase 1, Phase 2
37 Dermatologic Agents Phase 1, Phase 2
38 Immunosuppressive Agents Phase 1, Phase 2
39 Anti-Inflammatory Agents Phase 1, Phase 2
40 Alkylating Agents Phase 2
41 Antilymphocyte Serum Phase 2
42 Methylprednisolone acetate Phase 2
43 Methylprednisolone Hemisuccinate Phase 2
44 Prednisolone acetate Phase 2
45 Prednisolone hemisuccinate Phase 2
46 Prednisolone phosphate Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 2
48 N-monoacetylcystine Phase 2
49 Thioctic Acid Phase 2
50 Tocopherols Phase 2

Interventional clinical trials:

(show all 48)

id Name Status NCT ID Phase Drugs
1 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
2 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
3 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
4 Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00258011 Phase 3
5 Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00146770 Phase 3
6 Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I Completed NCT00912925 Phase 3
7 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
8 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
9 Immune Tolerance Study With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
10 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
11 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
12 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2 Laronidase ERT
13 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
14 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
15 Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and II Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
16 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
17 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
18 Safety and Dose Ranging Study of Human Insulin Receptor MAb-IDUA Fusion Protein in Adults and Children With MPS I Active, not recruiting NCT03053089 Phase 1, Phase 2 AGT-181
19 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
20 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
21 Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Children With MPS I Enrolling by invitation NCT03071341 Phase 1, Phase 2 AGT-181
22 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
23 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-318 in Subjects With MPS I Recruiting NCT02702115 Phase 1
24 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
25 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
26 Safety and Dose Ranging Study of Insulin Receptor MAb-IDUA Fusion Protein in Patients With MPS I Active, not recruiting NCT02371226 Phase 1 AGT-181 (HIRMAb-IDUA)
27 Intrathecal Enzyme Replacement for Hurler Syndrome Active, not recruiting NCT00638547 Phase 1 IRT Laronidase
28 Administration of IV Laronidase Post Bone Marrow Transplant in Hurler Active, not recruiting NCT01173016 Phase 1 Laronidase
29 Extension Study of AGT-181-102 to Evaluate Long Term Safety and Activity of AGT-181 Enrolling by invitation NCT02597114 Phase 1 AGT-181
30 Extension Study of Intrathecal Enzyme Replacement Therapy for MPS I Terminated NCT00786968 Phase 1 laronidase
31 Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis (MPS) I Terminated NCT00215527 Phase 1 laronidase
32 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
33 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
34 Effects of Growth Hormone in Chronically Ill Children Unknown status NCT00286689 Growth Hormone
35 A Study of Intrathecal Enzyme Therapy for Cognitive Decline in MPS I Completed NCT00852358 laronidase
36 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
37 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
38 Mucopolysaccharidosis I (MPS I) Registry Recruiting NCT00144794
39 Biomarker for Patients With Hurler Disease or High-grade Suspicion for Hurler Disease Recruiting NCT02298712
40 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
41 Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products Recruiting NCT00695279
42 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
43 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Active, not recruiting NCT01572636 Laronidase
44 Extension Study of Intrathecal Enzyme Replacement for Cognitive Decline in MPS I Enrolling by invitation NCT02232477 Intrathecal recombinant human alpha iduronidase
45 Ultrasound Findings of Finger, Wrist and Knee Joints in Mucopolysaccharidosis Enrolling by invitation NCT02067650
46 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Not yet recruiting NCT03161171
47 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674
48 Mucopolysaccharidosis (MPS) I, II, and VI Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia in Combination With Pediatric ENT Surgery (The HATT Project) Terminated NCT02095015

Search NIH Clinical Center for Mucopolysaccharidosis is

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis is cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: mucopolysaccharidosis i

Genetic Tests for Mucopolysaccharidosis is

Genetic tests related to Mucopolysaccharidosis is:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type I 29 24 IDUA
2 Scheie Syndrome 24

Anatomical Context for Mucopolysaccharidosis is

MalaCards organs/tissues related to Mucopolysaccharidosis is:

39
Bone, Bone Marrow, Heart, Brain, Spinal Cord, Eye, Tonsil
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Mucopolysaccharidosis is:
id Tissue Anatomical CompartmentCell Relevance
1 Bone Bone Marrow Bone Marrow Stromal Cells Potential therapeutic candidate

Publications for Mucopolysaccharidosis is

Articles related to Mucopolysaccharidosis is:

id Title Authors Year
1
Surgical Management of Progressive Thoracolumbar Kyphosis in Mucopolysaccharidosis: Is a Posterior-only Approach Safe and Effective? ( 27403916 )
2016

Variations for Mucopolysaccharidosis is

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis is:

71 (show all 14)
id Symbol AA change Variation ID SNP ID
1 IDUA p.Arg89Gln VAR_003354 rs121965029
2 IDUA p.Arg89Trp VAR_003355 rs754966840
3 IDUA p.Gln380Arg VAR_003366 rs762903007
4 IDUA p.Arg383His VAR_003367 rs754949360
5 IDUA p.Leu490Pro VAR_003374 rs121965027
6 IDUA p.Arg492Pro VAR_003375 rs121965026
7 IDUA p.Asn350Ile VAR_020983
8 IDUA p.Ser423Arg VAR_020985
9 IDUA p.Tyr76Cys VAR_066215 rs780165694
10 IDUA p.Gly219Glu VAR_066220
11 IDUA p.Glu276Lys VAR_066222
12 IDUA p.Trp306Leu VAR_066223
13 IDUA p.Asn348Lys VAR_066224 rs746766617
14 IDUA p.Leu18Pro VAR_072367 rs794726878

ClinVar genetic disease variations for Mucopolysaccharidosis is:

6 (show all 38)
id Gene Variation Type Significance SNP ID Assembly Location
1 IDUA NM_000203.4(IDUA): c.1205G> A (p.Trp402Ter) single nucleotide variant Pathogenic rs121965019 GRCh37 Chromosome 4, 996535: 996535
2 IDUA NM_000203.4(IDUA): c.208C> T (p.Gln70Ter) single nucleotide variant Pathogenic rs121965020 GRCh37 Chromosome 4, 981646: 981646
3 IDUA NM_000203.4(IDUA): c.1598C> G (p.Pro533Arg) single nucleotide variant Pathogenic rs121965021 GRCh37 Chromosome 4, 997206: 997206
4 IDUA IDUA, 1-BP DEL, 1702G deletion Pathogenic
5 IDUA IDUA, IVS5AS, G-A, -7 single nucleotide variant Pathogenic
6 IDUA NM_000203.4(IDUA): c.192C> A (p.Tyr64Ter) single nucleotide variant Pathogenic rs121965022 GRCh37 Chromosome 4, 981630: 981630
7 IDUA NM_000203.4(IDUA): c.928C> T (p.Gln310Ter) single nucleotide variant Pathogenic rs121965023 GRCh37 Chromosome 4, 995905: 995905
8 IDUA NM_000203.4(IDUA): c.1096A> C (p.Thr366Pro) single nucleotide variant Pathogenic rs121965024 GRCh37 Chromosome 4, 996180: 996180
9 IDUA NM_000203.4(IDUA): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs121965025 GRCh37 Chromosome 4, 998080: 998080
10 IDUA NM_000203.4(IDUA): c.1475G> C (p.Arg492Pro) single nucleotide variant Pathogenic rs121965026 GRCh37 Chromosome 4, 996896: 996896
11 IDUA NM_000203.4(IDUA): c.1469T> C (p.Leu490Pro) single nucleotide variant Pathogenic rs121965027 GRCh37 Chromosome 4, 996890: 996890
12 IDUA NM_000203.4(IDUA): c.1960T> G (p.Ter654Gly) single nucleotide variant Pathogenic rs387906504 GRCh37 Chromosome 4, 998179: 998179
13 IDUA NM_000203.4(IDUA): c.613_617dupTGCTC (p.Glu207Alafs) duplication Pathogenic rs786200915 GRCh38 Chromosome 4, 1001702: 1001706
14 IDUA NM_000203.4(IDUA): c.266G> A (p.Arg89Gln) single nucleotide variant Pathogenic rs121965029 GRCh37 Chromosome 4, 981704: 981704
15 IDUA NM_000203.4(IDUA): c.1037T> G (p.Leu346Arg) single nucleotide variant Pathogenic rs121965033 GRCh37 Chromosome 4, 996121: 996121
16 IDUA NM_000203.4(IDUA): c.1045G> A (p.Asp349Asn) single nucleotide variant Pathogenic rs368454909 GRCh37 Chromosome 4, 996129: 996129
17 IDUA NM_000203.4(IDUA): c.1402+1G> C single nucleotide variant Pathogenic rs398123254 GRCh37 Chromosome 4, 996733: 996733
18 IDUA NM_000203.4(IDUA): c.1650+5G> A single nucleotide variant Pathogenic rs398123256 GRCh37 Chromosome 4, 997263: 997263
19 IDUA NM_000203.4(IDUA): c.1799delC (p.Ser600Terfs) deletion Pathogenic rs398123258 GRCh37 Chromosome 4, 997871: 997871
20 IDUA NM_000203.4(IDUA): c.299+1G> T single nucleotide variant Pathogenic rs398123259 GRCh37 Chromosome 4, 981738: 981738
21 IDUA NM_000203.4(IDUA): c.46_57delTCGCTCCTGGCC (p.Ser16_Ala19del) deletion Pathogenic rs398123260 GRCh37 Chromosome 4, 980918: 980929
22 IDUA NM_000203.4(IDUA): c.501C> G (p.Tyr167Ter) single nucleotide variant Pathogenic rs200726100 GRCh37 Chromosome 4, 995263: 995263
23 IDUA NM_000203.4(IDUA): c.1874A> G (p.Tyr625Cys) single nucleotide variant Pathogenic rs587779401 GRCh37 Chromosome 4, 998093: 998093
24 IDUA NM_000203.4(IDUA): c.979G> C (p.Ala327Pro) single nucleotide variant Pathogenic rs199801029 GRCh37 Chromosome 4, 996063: 996063
25 IDUA NM_000203.4(IDUA): c.164delC (p.Pro55Argfs) deletion Pathogenic rs727503966 GRCh37 Chromosome 4, 981602: 981602
26 IDUA NM_000203.4(IDUA): c.1614delG (p.His539Thrfs) deletion Pathogenic rs727503967 GRCh37 Chromosome 4, 997222: 997222
27 IDUA NM_000203.4(IDUA): c.152G> A (p.Gly51Asp) single nucleotide variant Pathogenic rs794726877 GRCh37 Chromosome 4, 981024: 981024
28 IDUA NM_000203.4(IDUA): c.191_192delAC (p.Tyr64Cysfs) deletion Pathogenic rs794727240 GRCh37 Chromosome 4, 981629: 981630
29 IDUA NM_000203.4(IDUA): c.494-1G> C single nucleotide variant Pathogenic rs794727701 GRCh37 Chromosome 4, 995255: 995255
30 IDUA NM_000203.4(IDUA): c.972+1G> A single nucleotide variant Pathogenic rs794727840 GRCh37 Chromosome 4, 995950: 995950
31 IDUA NM_000203.4(IDUA): c.386-2A> G single nucleotide variant Pathogenic rs777295041 GRCh38 Chromosome 4, 1000880: 1000880
32 IDUA NM_000203.4(IDUA): c.590-7G> A single nucleotide variant Pathogenic rs762411583 GRCh38 Chromosome 4, 1001672: 1001672
33 IDUA NM_000203.4(IDUA): c.653T> C (p.Leu218Pro) single nucleotide variant Pathogenic rs869025584 GRCh38 Chromosome 4, 1001742: 1001742
34 IDUA NM_000203.4(IDUA): c.1029C> A (p.Tyr343Ter) single nucleotide variant Pathogenic rs764196171 GRCh38 Chromosome 4, 1002325: 1002325
35 IDUA NM_000203.4(IDUA): c.223G> A (p.Ala75Thr) single nucleotide variant Pathogenic rs758452450 GRCh37 Chromosome 4, 981661: 981661
36 IDUA NM_000203.4(IDUA): c.612_615dupCTGC (p.Ser206Leufs) duplication Pathogenic rs875989947 GRCh38 Chromosome 4, 1001701: 1001704
37 IDUA NM_000203.4(IDUA): c.1855C> T (p.Arg619Ter) single nucleotide variant Pathogenic rs121965031 GRCh37 Chromosome 4, 998074: 998074
38 IDUA NM_000203.4(IDUA): c.1898C> G (p.Ser633Trp) single nucleotide variant Pathogenic rs886043347 GRCh37 Chromosome 4, 998117: 998117

Expression for Mucopolysaccharidosis is

Search GEO for disease gene expression data for Mucopolysaccharidosis is.

Pathways for Mucopolysaccharidosis is

Pathways related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.6 CTSA GAA GALNS GLA GLB1 HEXA
2
Show member pathways
12.3 GAA GLB1 HEXA IDUA NAGLU
3
Show member pathways
12.13 GLB1 HEXA IDUA NAGLU
4
Show member pathways
11.96 CTSA GLA GLB1 HEXA
5
Show member pathways
11.66 GAA GLA GLB1
6 11.32 CTSA GAA GALNS GLA GLB1 HEXA
7
Show member pathways
11.05 GLA HEXA
8
Show member pathways
10.9 GLB1 HEXA
9 10.69 GLB1 HEXA
10
Show member pathways
10.65 GALNS GLB1 HEXA IDUA NAGLU

GO Terms for Mucopolysaccharidosis is

Cellular components related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.86 CTSA GAA GALNS GLA GLB1 HEXA
2 lysosome GO:0005764 9.56 CTSA GAA GALNS GLA GLB1 HEXA
3 azurophil granule lumen GO:0035578 9.46 CTSA GALNS GLA GLB1
4 lysosomal lumen GO:0043202 9.23 CTSA GAA GALNS GLA GLB1 HEXA

Biological processes related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.77 CTSA GAA GALNS GLA GLB1
2 carbohydrate metabolic process GO:0005975 9.65 GAA GLA GLB1 HEXA IDUA
3 glycosaminoglycan catabolic process GO:0006027 9.5 GLB1 IDUA NAGLU
4 lysosome organization GO:0007040 9.43 GAA NAGLU
5 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA IDUA
6 keratan sulfate catabolic process GO:0042340 9.33 GALNS GLB1 HEXA
7 glycosphingolipid metabolic process GO:0006687 9.26 CTSA GLA GLB1 HEXA
8 metabolic process GO:0008152 9.17 GAA GALNS GLA GLB1 HEXA IDUA

Molecular functions related to Mucopolysaccharidosis is according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.76 CTSA GAA GALNS GLA GLB1 HEXA
2 exo-alpha-sialidase activity GO:0004308 9.32 CTSA GLB1
3 galactoside binding GO:0016936 9.26 GLA GLB1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GAA GLA GLB1 IDUA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 GAA GLA GLB1 HEXA IDUA NAGLU

Sources for Mucopolysaccharidosis is

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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