MPS2
MCID: MCP009
MIFTS: 62

Mucopolysaccharidosis Ii (MPS2) malady

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

Aliases & Classifications for Mucopolysaccharidosis Ii

Aliases & Descriptions for Mucopolysaccharidosis Ii:

Name: Mucopolysaccharidosis Ii 54 38 12 13 42 14 69
Hunter Syndrome 12 23 50 24 25 56 66
Iduronate 2-Sulfatase Deficiency 23 50 24 25 56 66
Mucopolysaccharidosis Type Ii 23 50 24 25 56 66
Mps Ii 23 50 24 25 66
I2s Deficiency 23 50 24 25
Sulfoiduronate Sulfatase Deficiency 66 69
Mucopolysaccharidosis, Mps-Ii 12 29
Mps2 56 66
Deficiency of Iduronate-2-Sulphatase 12
Mucopolysaccharidosis, Type Ii 54
Mucopolysaccharidosis Type 2 56
Mps Ii - Hunter Syndrome 12
Mucopolysaccharidosis 2 66
Iduronate 2-Sulfatase 13
Hunter's Syndrome 12
Hunters Syndrome 52
Sids Deficiency 66
Attenuated Mps 50
Ids Deficiency 66
Severe Mps Ii 50
Mps 2 50
Mpsii 56

Characteristics:

Orphanet epidemiological data:

56
mucopolysaccharidosis type 2
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Sweden),1-9/100000 (Denmark),1-9/1000000 (Czech Republic),1-9/1000000 (Ireland),1-9/100000 (Taiwan, Province of China),1-9/1000000 (Australia),1-9/100000 (Estonia),1-9/1000000 (Canada),1-5/10000 (Europe),1-9/100000 (Portugal),1-9/1000000 (Germany),1-9/100000 (Italy),1-9/1000000 (Netherlands),1-9/100000 (Sweden),1-9/1000000 (Norway),1-9/100000 (Norway),1-9/1000000 (Denmark),1-9/1000000 (Worldwide),1-9/1000000 (Poland); Age of onset: Childhood; Age of death: adult;

GeneReviews:

23
mucopolysaccharidosis ii:
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Penetrance of mps ii in males is complete; however, it is anticipated that if newborn screening becomes available for mps ii, much milder presentations would be documented. ...

Classifications:



External Ids:

OMIM 54 309900
Disease Ontology 12 DOID:12799
ICD10 33 E76.1
MeSH 42 D016532
NCIt 47 C61260
Orphanet 56 ORPHA580
MESH via Orphanet 43 D016532
UMLS via Orphanet 70 C0026705 C2718304
ICD10 via Orphanet 34 E76.1
MedGen 40 C0026705
UMLS 69 C0026705

Summaries for Mucopolysaccharidosis Ii

NIH Rare Diseases : 50 mucopolysaccharidosis ii (mps ii) is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. it is characterized by distinctive facial features, a large head,  hydrocephalus, enlargement of the liver and spleen (hepatosplenomegaly), umbilical or inguinal hernia, and hearing loss. individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. mps ii is caused by mutations in the ids gene and is inherited in an x-linked manner. there is a wide range in severity of symptoms present in individuals with mps ii. previously, mps ii was classified as severe and attenuated based on severity. more recently, the terms slowly progressive and early progressive have been suggested. while both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. the life expectancy for people with the severe type is 10 to 20 years. individuals with the less severe type typically live into adulthood and intelligence is not affected. treatment is focused on managing the signs and symptoms present in each individual. last updated: 6/20/2016

MalaCards based summary : Mucopolysaccharidosis Ii, also known as hunter syndrome, is related to mucopolysaccharidosis is and mucopolysaccharidosis type 2, attenuated form, and has symptoms including seizures, joint stiffness and macrocephaly. An important gene associated with Mucopolysaccharidosis Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways/superpathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Lysosome. The drugs Aldurazyme and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and spleen.

UniProtKB/Swiss-Prot : 66 Mucopolysaccharidosis 2: An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without mental retardation.

Genetics Home Reference : 25 Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.

OMIM : 54 Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate... (309900) more...

Disease Ontology : 12 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.

GeneReviews: NBK1274

Related Diseases for Mucopolysaccharidosis Ii

Diseases in the Mucopolysaccharidosis family:

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

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

(show all 24)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis is 11.6
2 mucopolysaccharidosis type 2, attenuated form 11.3
3 mucopolysaccharidosis type 2, severe form 11.3
4 mucopolysaccharidosis ih 10.8
5 mucopolysaccharidosis 10.5
6 huntington disease-like 2 10.2 ARSH GALNS
7 myasthenia gravis 10.2 ARSH GALNS
8 langer mesomelic dwarfism 10.1 ARSH GALNS
9 muscle disorders 10.1 ARSH SUMF1
10 chondrodysplasia punctata, x-linked recessive 10.1 ARSH SUMF1
11 neurosarcoidosis 10.1 ARSH GALNS
12 mitochondrial dna depletion syndrome 1 10.1 ARSH SUMF1
13 quadriplegia 10.0 ARSH GALNS IDS
14 myopia 23, autosomal recessive 10.0 GAA GALNS
15 mannosidosis 9.9 GAA GALNS IDS
16 osteopathia striata with cranial sclerosis 9.9 AFF2 FMR1
17 y-linked disease 9.9 AFF2 FMR1
18 immunodeficiency, isolated 9.9 AFF2 FMR1
19 posterior uveal melanoma 9.8 GAA GALNS
20 obesity 9.8 ARSH GALNS IDS SUMF1
21 angular cheilitis 9.8 AFF2 FMR1
22 neuronopathy, distal hereditary motor, type iic 9.7 ARSH GAA GALNS SUMF1
23 adenoiditis 9.6
24 ectodermal dysplasia, hypohidrotic, with immune deficiency 8.9 AFF2 ARSH FMR1 GAA GABRA3 GALNS

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



Diseases related to Mucopolysaccharidosis Ii

Symptoms & Phenotypes for Mucopolysaccharidosis Ii

Symptoms by clinical synopsis from OMIM:

309900

Clinical features from OMIM:

309900

Human phenotypes related to Mucopolysaccharidosis Ii:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Frequent (79-30%) HP:0001250
2 joint stiffness 56 32 Occasional (29-5%) HP:0001387
3 macrocephaly 56 32 Very frequent (99-80%) HP:0000256
4 short neck 56 32 Very frequent (99-80%) HP:0000470
5 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
6 ptosis 56 32 Occasional (29-5%) HP:0000508
7 kyphosis 56 32 Occasional (29-5%) HP:0002808
8 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
9 macroglossia 56 32 Occasional (29-5%) HP:0000158
10 coarse facial features 56 32 Very frequent (99-80%) HP:0000280
11 mandibular prognathia 56 32 Frequent (79-30%) HP:0000303
12 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
13 widely spaced teeth 56 32 Very frequent (99-80%) HP:0000687
14 behavioral abnormality 56 32 Very frequent (99-80%) HP:0000708
15 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
16 depressed nasal bridge 56 32 Very frequent (99-80%) HP:0005280
17 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
18 malabsorption 56 32 Frequent (79-30%) HP:0002024
19 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
20 abnormality of retinal pigmentation 56 32 Frequent (79-30%) HP:0007703
21 mucopolysacchariduria 56 32 Very frequent (99-80%) HP:0008155
22 laryngomalacia 56 32 Occasional (29-5%) HP:0001601
23 abnormality of the cardiovascular system 56 32 Frequent (79-30%) HP:0001626
24 thick lower lip vermilion 56 32 Very frequent (99-80%) HP:0000179
25 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
26 dolichocephaly 56 32 Very frequent (99-80%) HP:0000268
27 abnormality of the hip bone 56 32 Frequent (79-30%) HP:0003272
28 recurrent otitis media 56 32 Frequent (79-30%) HP:0000403
29 depressed nasal ridge 56 32 Very frequent (99-80%) HP:0000457
30 thickened skin 56 32 Very frequent (99-80%) HP:0001072
31 papilledema 56 32 Very frequent (99-80%) HP:0001085
32 intellectual disability, profound 56 32 Very frequent (99-80%) HP:0002187
33 tracheal stenosis 56 32 Occasional (29-5%) HP:0002777
34 severe short stature 56 32 Very frequent (99-80%) HP:0003510
35 diarrhea 32 HP:0002014
36 hydrocephalus 32 HP:0000238
37 hepatomegaly 32 HP:0002240
38 short stature 32 HP:0004322
39 flexion contracture 32 HP:0001371
40 dysostosis multiplex 32 HP:0000943
41 abnormality of the heart valves 32 HP:0001654
42 delayed eruption of teeth 32 HP:0000684
43 congestive heart failure 32 HP:0001635
44 pes cavus 32 HP:0001761
45 neurodegeneration 32 HP:0002180
46 asthma 32 HP:0002099
47 split hand 32 HP:0001171
48 hoarse voice 32 HP:0001609
49 obstructive sleep apnea 32 HP:0002870
50 tracheobronchomalacia 32 HP:0002786

UMLS symptoms related to Mucopolysaccharidosis Ii:


diarrhea, hoarseness, seizures

Drugs & Therapeutics for Mucopolysaccharidosis Ii

FDA approved drugs:

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

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

(show top 50) (show all 69)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
2
Adalimumab Approved Phase 2, Phase 3,Phase 1 331731-18-1 16219006
3 Antirheumatic Agents Phase 2, Phase 3,Phase 1
4 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 1
5 Hormone Antagonists Phase 2, Phase 3
6 Hormones Phase 2, Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
10
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
12
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
13
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
14
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
15
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
16
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
17
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
20
Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
21
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
22
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
23
rituximab Approved Phase 2 174722-31-7 10201696
24
Acetaminophen Approved Phase 2 103-90-2 1983
25
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
26
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
27
Promethazine Approved Phase 2 60-87-7 4927
28
Vidarabine Approved Phase 2 24356-66-9 32326 21704
29
Mesna Approved Phase 2 3375-50-6 598
30
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
31
Mycophenolic acid Approved Phase 2 24280-93-1 446541
32 tannic acid Approved, Nutraceutical Phase 2
33
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
34 Alkylating Agents Phase 2
35 Antilymphocyte Serum Phase 2
36 Antineoplastic Agents, Alkylating Phase 2
37 Immunosuppressive Agents Phase 2
38 Methylprednisolone acetate Phase 2
39 Methylprednisolone Hemisuccinate Phase 2
40 Prednisolone acetate Phase 2
41 Prednisolone hemisuccinate Phase 2
42 Prednisolone phosphate Phase 2
43 Antifungal Agents Phase 2
44 Anti-Infective Agents Phase 2
45 Antimetabolites Phase 2
46 Antimetabolites, Antineoplastic Phase 2
47 Calcineurin Inhibitors Phase 2
48 Dermatologic Agents Phase 2
49 Nucleic Acid Synthesis Inhibitors Phase 2
50 N-monoacetylcystine Phase 2

Interventional clinical trials:

(show top 50) (show all 58)
id Name Status NCT ID Phase
1 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
2 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4
3 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
4 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
5 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
6 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Recruiting NCT02437253 Phase 2, Phase 3
7 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Active, not recruiting NCT02055118 Phase 2, Phase 3
8 Long-Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Patients With Hunter Syndrome That Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3
9 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3
10 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
11 To Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome Patients Completed NCT01301898 Phase 1, Phase 2
12 Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome) Completed NCT00004454 Phase 1, Phase 2
13 A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase® Completed NCT00920647 Phase 1, Phase 2
14 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease Completed NCT02060526 Phase 2
15 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
16 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
17 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2
18 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
19 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
20 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
21 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
22 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Recruiting NCT03128593 Phase 1, Phase 2
23 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
24 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
25 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
26 Extension of HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Idursulfase (IT)in Conjunction With Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive Impairment Active, not recruiting NCT01506141 Phase 1, Phase 2
27 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2
28 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
29 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2
30 A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Active, not recruiting NCT02618512 Phase 1, Phase 2
31 Study of Idursulfase-beta (GC1111) in Hunter Syndrome Not yet recruiting NCT02663024 Phase 2
32 Study to Evaluate the Safety and Efficacy of Adalimumab in MPS I and II Not yet recruiting NCT03153319 Phase 1, Phase 2
33 Gene Therapy in Patients With Mucopolysaccharidosis Disease Not yet recruiting NCT03173521 Phase 1, Phase 2
34 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1
35 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
36 Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome Recruiting NCT02262338 Phase 1
37 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Recruiting NCT03041324 Phase 1
38 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
39 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
40 Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
41 Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System (CNS) Involvement and Who Are Currently Receiving Treatment With Elaprase® Completed NCT00937794
42 Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome Completed NCT01449240
43 A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 Completed NCT01602601
44 An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Completed NCT00882921
45 Relationships Between Macular Pigment Optical Density and Lacquer Cracks in High Myopic Patients. Completed NCT02205632
46 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
47 The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients Recruiting NCT02044692
48 Biomarker for Hunter Disease Recruiting NCT01330277
49 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
50 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014

Search NIH Clinical Center for Mucopolysaccharidosis Ii

Cell-based therapeutics:


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

Cochrane evidence based reviews: mucopolysaccharidosis ii

Genetic Tests for Mucopolysaccharidosis Ii

Genetic tests related to Mucopolysaccharidosis Ii:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis, Mps-Ii 29
2 Mucopolysaccharidosis Type Ii 24 IDS

Anatomical Context for Mucopolysaccharidosis Ii

MalaCards organs/tissues related to Mucopolysaccharidosis Ii:

39
Heart, Liver, Spleen, Bone, Skin, Brain, Eye

Publications for Mucopolysaccharidosis Ii

Articles related to Mucopolysaccharidosis Ii:

(show top 50) (show all 56)
id Title Authors Year
1
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. ( 28243577 )
2017
2
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. ( 27349225 )
2016
3
The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry. ( 27331006 )
2016
4
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome). ( 25902842 )
2015
5
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. ( 25712379 )
2015
6
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. ( 25834948 )
2015
7
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. ( 24515576 )
2014
8
Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy. ( 25022704 )
2014
9
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). ( 23497636 )
2013
10
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase. ( 23988379 )
2013
11
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient. ( 23512580 )
2013
12
Relationship of sleep to pulmonary function in mucopolysaccharidosis II. ( 23305961 )
2013
13
Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II). ( 23370478 )
2013
14
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. ( 21672014 )
2012
15
Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey. ( 21866356 )
2012
16
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase. ( 23430900 )
2012
17
Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). ( 22190500 )
2012
18
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). ( 21192662 )
2011
19
A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing. ( 21910981 )
2011
20
Central corneal thickness in mucopolysaccharidosis II and VI. ( 20098308 )
2010
21
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). ( 19773189 )
2010
22
Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. ( 20203116 )
2010
23
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. ( 19707363 )
2008
24
Idursulfase for the treatment of mucopolysaccharidosis II. ( 18201153 )
2008
25
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). ( 18245410 )
2008
26
Gene symbol: IDS. Disease: Mucopolysaccharidosis II. ( 20960627 )
2008
27
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. ( 17569950 )
2007
28
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). ( 17876721 )
2007
29
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). ( 17185020 )
2007
30
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). ( 17082248 )
2007
31
Prospective study of 11 Brazilian patients with mucopolysaccharidosis II. ( 16912829 )
2006
32
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ( 16912578 )
2006
33
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms. ( 16495038 )
2006
34
Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome). ( 10726837 )
1998
35
MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). ( 8837099 )
1996
36
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]. ( 8685031 )
1996
37
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). ( 8747590 )
1995
38
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). ( 7981716 )
1994
39
Structural gene aberrations in mucopolysaccharidosis II (Hunter). ( 1352274 )
1992
40
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). ( 1906048 )
1991
41
MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). ( 2122274 )
1990
42
Hunter syndrome (mucopolysaccharidosis II). ( 2113673 )
1990
43
Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. ( 2507197 )
1989
44
Pathological and biochemical study in the adenoid of mucopolysaccharidosis II. ( 3938449 )
1985
45
Hearing loss in Hunter's syndrome--mucopolysaccharidosis II. ( 6432613 )
1984
46
Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study. ( 6770331 )
1980
47
Morphological observations in the nervous system of prenatal mucopolysaccharidosis II (M. Hunter). ( 228523 )
1979
48
Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum. ( 150330 )
1978
49
A pathological basis for the cutaneous papules of mucopolysaccharidosis II (the Hunter syndrome). ( 112128 )
1977
50
Morphological and biochemical studies of a case of mucopolysaccharidosis II (Hunter's syndrome). ( 132078 )
1976

Variations for Mucopolysaccharidosis Ii

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

66 (show top 50) (show all 126)
id Symbol AA change Variation ID SNP ID
1 IDS p.Asp45Asn VAR_007313
2 IDS p.Arg48Pro VAR_007314
3 IDS p.Tyr54Asp VAR_007315
4 IDS p.Asn63Asp VAR_007316 rs193302909
5 IDS p.Ala68Glu VAR_007317
6 IDS p.Ala79Glu VAR_007318
7 IDS p.Ala85Thr VAR_007319 rs113993949
8 IDS p.Pro86Leu VAR_007320
9 IDS p.Pro86Gln VAR_007321
10 IDS p.Pro86Arg VAR_007322
11 IDS p.Ser87Asn VAR_007323
12 IDS p.Arg88Cys VAR_007324 rs398123249
13 IDS p.Arg88His VAR_007325
14 IDS p.Arg88Leu VAR_007326
15 IDS p.Arg88Pro VAR_007327
16 IDS p.Leu92Pro VAR_007328
17 IDS p.Gly94Asp VAR_007329
18 IDS p.Leu102Arg VAR_007330
19 IDS p.Tyr108Cys VAR_007331
20 IDS p.Asn115Tyr VAR_007332
21 IDS p.Thr118Ile VAR_007333
22 IDS p.Pro120His VAR_007334 rs193302911
23 IDS p.Pro120Arg VAR_007335
24 IDS p.Glu125Val VAR_007336
25 IDS p.Ser132Trp VAR_007337
26 IDS p.Gly134Arg VAR_007338
27 IDS p.Lys135Asn VAR_007339
28 IDS p.Lys135Arg VAR_007340 rs28937311
29 IDS p.Ser143Phe VAR_007341
30 IDS p.His159Pro VAR_007342
31 IDS p.Pro160Arg VAR_007344 rs104894856
32 IDS p.Cys184Phe VAR_007345
33 IDS p.Cys184Trp VAR_007346
34 IDS p.Leu196Ser VAR_007347 rs398123250
35 IDS p.Asp198Gly VAR_007348
36 IDS p.Leu221Pro VAR_007349
37 IDS p.Gly224Glu VAR_007350
38 IDS p.Tyr225Asp VAR_007351
39 IDS p.Lys227Gln VAR_007352
40 IDS p.Pro228Leu VAR_007353
41 IDS p.His229Tyr VAR_007354
42 IDS p.Asp252Asn VAR_007355 rs146458524
43 IDS p.Pro266His VAR_007356
44 IDS p.Pro266Arg VAR_007357
45 IDS p.Asp269Val VAR_007358
46 IDS p.Gln293His VAR_007359
47 IDS p.Ser333Leu VAR_007360 rs104894853
48 IDS p.Trp337Arg VAR_007361
49 IDS p.Gly340Asp VAR_007362
50 IDS p.Trp345Cys VAR_007363

ClinVar genetic disease variations for Mucopolysaccharidosis Ii:

6 (show top 50) (show all 62)
id Gene Variation Type Significance SNP ID Assembly Location
1 IDS NM_000202.7(IDS): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs104894860 GRCh37 Chromosome X, 148579832: 148579832
2 IDS NM_000202.7(IDS): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs199422227 GRCh37 Chromosome X, 148564603: 148564603
3 IDS NM_000202.7(IDS): c.998C> T (p.Ser333Leu) single nucleotide variant Pathogenic rs104894853 GRCh37 Chromosome X, 148571853: 148571853
4 IDS NM_000202.7(IDS): c.1505G> C (p.Trp502Ser) single nucleotide variant Pathogenic rs199422228 GRCh37 Chromosome X, 148564425: 148564425
5 IDS NM_000202.7(IDS): c.479C> G (p.Pro160Arg) single nucleotide variant Pathogenic rs104894856 GRCh37 Chromosome X, 148582508: 148582508
6 IDS NM_000202.7(IDS): c.1122C> T (p.Gly374=) single nucleotide variant Pathogenic rs113993948 GRCh37 Chromosome X, 148568514: 148568514
7 IDS NC_000023.11: g.(?_149478764)_(149505354_?)del deletion Pathogenic GRCh38 Chromosome X, 149478764: 149505354
8 IDS NM_000202.7(IDS): c.1264T> G (p.Cys422Gly) single nucleotide variant Pathogenic rs199422229 GRCh37 Chromosome X, 148564666: 148564666
9 IDS NM_000202.7(IDS): c.404A> G (p.Lys135Arg) single nucleotide variant Pathogenic rs104894861 GRCh37 Chromosome X, 148584856: 148584856
10 IDS NM_000202.7(IDS): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs199422230 GRCh37 Chromosome X, 148564505: 148564505
11 IDS NM_000202.7(IDS): c.509_510delCA (p.Thr170Metfs) deletion Pathogenic rs483352904 GRCh37 Chromosome X, 148579836: 148579837
12 IDS NM_000202.7(IDS): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs199422231 GRCh37 Chromosome X, 148564528: 148564528
13 IDS NM_000202.7(IDS): c.1403G> A (p.Arg468Gln) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
14 IDS NM_000202.7(IDS): c.349_351delTCC (p.Ser117del) deletion Pathogenic rs483352905 GRCh37 Chromosome X, 148584909: 148584911
15 IDS NM_000202.7(IDS): c.103+1G> C single nucleotide variant Pathogenic rs398123247 GRCh37 Chromosome X, 148586564: 148586564
16 IDS NM_000202.7(IDS): c.1403G> C (p.Arg468Pro) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
17 IDS NM_000202.7(IDS): c.1508T> A (p.Val503Asp) single nucleotide variant Likely pathogenic rs398123248 GRCh37 Chromosome X, 148564422: 148564422
18 IDS NM_000202.7(IDS): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs113993949 GRCh37 Chromosome X, 148585007: 148585007
19 IDS NM_000202.7(IDS): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs398123249 GRCh37 Chromosome X, 148584998: 148584998
20 IDS NM_000202.7(IDS): c.587T> C (p.Leu196Ser) single nucleotide variant Pathogenic rs398123250 GRCh37 Chromosome X, 148579759: 148579759
21 IDS NM_000202.7(IDS): c.597delA (p.Lys199Asnfs) deletion Pathogenic rs398123251 GRCh37 Chromosome X, 148579749: 148579749
22 IDS NM_000202.7(IDS): c.1148delC (p.Pro383Leufs) deletion Pathogenic rs797044502 GRCh37 Chromosome X, 148568488: 148568488
23 IDS NM_000202.7(IDS): c.208dupC (p.His70Profs) duplication Pathogenic rs797044671 GRCh37 Chromosome X, 148585719: 148585719
24 IDS NM_000202.7(IDS): c.317_318insTCAA (p.Ser107Glnfs) insertion Pathogenic rs797044703 GRCh37 Chromosome X, 148584942: 148584943
25 IDS NM_000202.7(IDS): c.690_691insT (p.Pro231Serfs) insertion Pathogenic rs797044750 GRCh37 Chromosome X, 148579655: 148579656
26 IDS NM_000202.7(IDS): c.832_833insATGTTTAAGGGAAG (p.Ala278Aspfs) insertion Pathogenic rs797044770 GRCh37 Chromosome X, 148577923: 148577924
27 IDS NM_000202.7(IDS): c.1007-8T> G single nucleotide variant Pathogenic rs797044782 GRCh37 Chromosome X, 148568637: 148568637
28 IDS NM_000202.7(IDS): c.1016T> C (p.Leu339Pro) single nucleotide variant Pathogenic rs864622771 GRCh38 Chromosome X, 149487089: 149487089
29 IDS NM_000202.7(IDS): c.1433A> G (p.Asp478Gly) single nucleotide variant Pathogenic rs864622773 GRCh37 Chromosome X, 148564497: 148564497
30 IDS NM_000202.7(IDS): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs864622772 GRCh37 Chromosome X, 148564537: 148564537
31 IDS NM_000202.7(IDS): c.1181-1G> A single nucleotide variant Pathogenic rs864622777 GRCh37 Chromosome X, 148564750: 148564750
32 IDS NM_000202.7(IDS): c.1033T> A (p.Trp345Arg) single nucleotide variant Pathogenic rs193302906 GRCh38 Chromosome X, 149487072: 149487072
33 IDS NM_000202.7(IDS): c.935G> A (p.Gly312Asp) single nucleotide variant Pathogenic rs193302912 GRCh37 Chromosome X, 148571916: 148571916
34 IDS NM_000202.7(IDS): c.908_909delCT (p.Ser303Cysfs) deletion Pathogenic rs193302913 GRCh38 Chromosome X, 149490411: 149490412
35 IDS NM_000202.7(IDS): c.884A> T (p.Lys295Ile) single nucleotide variant Pathogenic rs113993953 GRCh38 Chromosome X, 149490436: 149490436
36 IDS NM_000202.7(IDS): c.820G> T (p.Glu274Ter) single nucleotide variant Pathogenic rs193302907 GRCh37 Chromosome X, 148577936: 148577936
37 IDS NM_000202.7(IDS): c.708+1G> A single nucleotide variant Pathogenic rs864622778 GRCh37 Chromosome X, 148579637: 148579637
38 IDS NM_000202.7(IDS): c.683C> A (p.Pro228Gln) single nucleotide variant Pathogenic rs113993945 GRCh37 Chromosome X, 148579663: 148579663
39 IDS NM_000202.7(IDS): c.613G> C (p.Ala205Pro) single nucleotide variant Pathogenic rs864622779 GRCh37 Chromosome X, 148579733: 148579733
40 IDS NM_000202.7(IDS): c.592G> A (p.Asp198Asn) single nucleotide variant Pathogenic rs193302904 GRCh38 Chromosome X, 149498223: 149498223
41 IDS NM_000202.7(IDS): c.508-1G> A single nucleotide variant Pathogenic rs113993947 GRCh38 Chromosome X, 149498308: 149498308
42 IDS NM_000202.7(IDS): c.469C> T (p.Pro157Ser) single nucleotide variant Pathogenic rs864622774 GRCh37 Chromosome X, 148582518: 148582518
43 IDS NM_000202.7(IDS): c.425C> A (p.Ser142Tyr) single nucleotide variant Pathogenic rs193302908 GRCh37 Chromosome X, 148582562: 148582562
44 IDS NM_000202.7(IDS): c.411delT (p.His138Thrfs) deletion Pathogenic rs864622776 GRCh37 Chromosome X, 148584849: 148584849
45 IDS NM_000202.7(IDS): c.401G> A (p.Gly134Glu) single nucleotide variant Pathogenic rs193302910 GRCh38 Chromosome X, 149503329: 149503329
46 IDS NM_000202.7(IDS): c.359C> A (p.Pro120His) single nucleotide variant Pathogenic rs193302911 GRCh38 Chromosome X, 149503371: 149503371
47 IDS NM_000202.7(IDS): c.241-5A> T single nucleotide variant Pathogenic rs113993952 GRCh37 Chromosome X, 148585024: 148585024
48 IDS NM_000202.7(IDS): c.191T> A (p.Ile64Asn) single nucleotide variant Pathogenic rs781997631 GRCh37 Chromosome X, 148585736: 148585736
49 IDS NM_000202.7(IDS): c.181T> C (p.Ser61Pro) single nucleotide variant Pathogenic rs113993955 GRCh38 Chromosome X, 149504216: 149504216
50 IDS NM_000202.7(IDS): c.22_37del16 (p.Arg8Trpfs) deletion Pathogenic rs864622775 GRCh37 Chromosome X, 148586631: 148586646

Expression for Mucopolysaccharidosis Ii

Search GEO for disease gene expression data for Mucopolysaccharidosis Ii.

Pathways for Mucopolysaccharidosis Ii

GO Terms for Mucopolysaccharidosis Ii

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.13 GAA GALNS IDS
2 lysosomal lumen GO:0043202 8.8 GAA GALNS IDS

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

id Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 8.96 ARSH SUMF1
2 metabolic process GO:0008152 8.92 ARSH GAA GALNS IDS

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

id Name GO ID Score Top Affiliating Genes
1 G-quadruplex RNA binding GO:0002151 8.96 AFF2 FMR1
2 sulfuric ester hydrolase activity GO:0008484 8.8 ARSH GALNS IDS

Sources for Mucopolysaccharidosis Ii

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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