MPS2
MCID: MCP050
MIFTS: 64

Mucopolysaccharidosis, Type Ii (MPS2)

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

Aliases & Classifications for Mucopolysaccharidosis, Type Ii

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ii:

Name: Mucopolysaccharidosis, Type Ii 57 38 40
Hunter Syndrome 57 12 76 24 53 25 59 75
Iduronate 2-Sulfatase Deficiency 57 76 24 53 25 59 75
Mucopolysaccharidosis Ii 57 38 12 13 44 15 73
Mucopolysaccharidosis Type Ii 24 53 25 59 75 37
Mps Ii 57 24 53 25 75
Sulfoiduronate Sulfatase Deficiency 57 75 73
Mucopolysaccharidosis, Mps-Ii 12 29 6
I2s Deficiency 24 53 25
Mps2 57 59 75
Sids Deficiency 57 75
Ids Deficiency 57 75
Deficiency of Iduronate-2-Sulphatase 12
Mucopolysaccharidosis Type 2 59
Mps Ii - Hunter Syndrome 12
Mucopolysaccharidosis 2 75
Iduronate 2-Sulfatase 13
Hunter's Syndrome 12
Hunters Syndrome 55
Attenuated Mps 53
Severe Mps Ii 53
Mps 2 53
Mpsii 59

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Miscellaneous:
prenatal diagnosis available
onset 2-4 years of age in iia
two forms: iia (severe) and iib (mild)
death before age 15 in iia
survival to 20s-60s in iib

Inheritance:
x-linked recessive


HPO:

32
mucopolysaccharidosis, type ii:
Inheritance x-linked recessive inheritance


GeneReviews:

24
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:



Summaries for Mucopolysaccharidosis, Type Ii

NIH Rare Diseases : 53 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.

MalaCards based summary : Mucopolysaccharidosis, Type Ii, also known as hunter syndrome, is related to scheie syndrome and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, diarrhea and hoarseness. An important gene associated with Mucopolysaccharidosis, Type Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Pharmaceutical Solutions and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and liver, and related phenotypes are macrocephaly and short neck

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

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 : 57 Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008). (309900)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a lysosomal storage disease caused by a... more...

GeneReviews: NBK1274

Related Diseases for Mucopolysaccharidosis, Type Ii

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 scheie syndrome 32.9 GAA GALNS
2 mucopolysaccharidosis-plus syndrome 30.8 ARSH GALNS IDS
3 mucopolysaccharidosis type 2, severe form 11.7
4 mucopolysaccharidosis type 2, attenuated form 11.6
5 hurler-scheie syndrome 11.2
6 hurler syndrome 11.1
7 hematopoietic stem cell transplantation 10.1
8 hydrocephalus 10.1
9 tracheal stenosis 10.0
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
11 atrioventricular block 9.9
12 mucopolysaccharidoses 9.9
13 mucopolysaccharidosis, type iva 9.9 ARSH GALNS
14 gangliosidosis gm1 9.9 ARSA GALNS
15 mucopolysaccharidosis iv 9.9 ARSH GALNS
16 krabbe disease 9.9 ARSA GAA
17 carpal tunnel syndrome 9.9
18 retinitis pigmentosa 9.9
19 leber congenital amaurosis 4 9.9
20 mononeuropathy of the median nerve, mild 9.9
21 inguinal hernia 9.9
22 hydronephrosis 9.9
23 status epilepticus 9.9
24 central nervous system disease 9.9
25 retinitis 9.9
26 nervous system disease 9.9
27 47, xxy 9.9
28 hyper-igd syndrome 9.8
29 metachromatic leukodystrophy 9.8 ARSA ARSH
30 vasculitis 9.8
31 fibromatosis, gingival, 1 9.8
32 retinal detachment 9.8
33 spondylolisthesis 9.8
34 thrombocytopenic purpura, autoimmune 9.8
35 anemia, autoimmune hemolytic 9.8
36 stroke, ischemic 9.8
37 hemolytic anemia 9.8
38 sleep apnea 9.8
39 immunoglobulin alpha deficiency 9.8
40 gingival fibromatosis 9.8
41 mitral valve stenosis 9.8
42 syringomyelia 9.8
43 purpura 9.8
44 hypopituitarism 9.8
45 congenital hydrocephalus 9.8
46 fibromatosis 9.8
47 pulmonary interstitial glycogenosis 9.8
48 inherited metabolic disorder 9.8 ARSA GAA GALNS
49 multiple sulfatase deficiency 9.7 ARSA ARSH GALNS IDS
50 lysosomal storage disease 9.6 ARSA GAA GALNS IDS

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



Diseases related to Mucopolysaccharidosis, Type Ii

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly
scaphocephaly

Neurologic Central Nervous System:
hydrocephalus
seizures
neurodegeneration leading to profound mental retardation
cervical cord compression
normal intelligence in iib

Skeletal Spine:
kyphosis

Head And Neck Mouth:
macroglossia
full lips

Abdomen Spleen:
splenomegaly

Skeletal:
dysostosis multiplex

Head And Neck Ears:
recurrent otitis media
hearing loss

Respiratory Airways:
asthma
obstructive sleep apnea
tracheobronchomalacia

Voice:
hoarse voice

Head And Neck Face:
coarse facies

Laboratory Abnormalities:
dermatan and heparan sulfate excretion in urine
iduronate sulfatase deficiency in fibroblasts, amniocytes and white blood cells

Head And Neck Nose:
mucoid nasal discharge

Skin Nails Hair Skin:
pebbly skin lesions on back, upper arms, and thigh

Head And Neck Neck:
short neck

Head And Neck Eyes:
ptosis
papilledema
retinal pigmentation
no corneal opacities

Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Teeth:
widely spaced teeth
delayed tooth eruption

Abdomen Liver:
hepatomegaly

Cardiovascular Heart:
congestive heart failure
valvular heart disease
ischemic heart disease

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
diarrhea
intestinal pseudo-obstruction

Skin Nails Hair Hair:
hypertrichosis

Skeletal Limbs:
flexion contractures

Growth Height:
dwarfism, mild
adult height 120-150cm

Skeletal Hands:
claw hand


Clinical features from OMIM:

309900

Human phenotypes related to Mucopolysaccharidosis, Type Ii:

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
4 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
5 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
6 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
7 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
8 macroglossia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000158
9 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
10 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
11 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
12 widely spaced teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000687
13 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
14 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
15 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
16 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
17 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
18 malabsorption 59 32 frequent (33%) Frequent (79-30%) HP:0002024
19 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
20 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
21 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
22 laryngomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001601
23 abnormality of the cardiovascular system 59 32 frequent (33%) Frequent (79-30%) HP:0001626
24 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
25 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
26 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
27 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
28 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000403
29 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
30 thickened skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001072
31 papilledema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001085
32 intellectual disability, profound 59 32 hallmark (90%) Very frequent (99-80%) HP:0002187
33 tracheal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002777
34 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
35 hydrocephalus 32 HP:0000238
36 hepatomegaly 32 HP:0002240
37 flexion contracture 32 HP:0001371
38 dysostosis multiplex 32 HP:0000943
39 delayed eruption of teeth 32 HP:0000684
40 congestive heart failure 32 HP:0001635
41 pes cavus 32 HP:0001761
42 neurodegeneration 32 HP:0002180
43 asthma 32 HP:0002099
44 diarrhea 32 HP:0002014
45 split hand 32 HP:0001171
46 hoarse voice 32 HP:0001609
47 obstructive sleep apnea 32 HP:0002870
48 tracheobronchomalacia 32 HP:0002786
49 mild short stature 32 HP:0003502
50 intestinal pseudo-obstruction 32 HP:0004389

UMLS symptoms related to Mucopolysaccharidosis, Type Ii:


seizures, diarrhea, hoarseness

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ii

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

(show top 50) (show all 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Hormone Antagonists Phase 2, Phase 3
5
Adalimumab Approved Phase 1, Phase 2,Phase 2 331731-18-1 16219006
6
Mycophenolic acid Approved Phase 2 24280-93-1 446541
7
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
8 tannic acid Approved Phase 2
9
Mesna Approved, Investigational Phase 2 3375-50-6 598
10
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Busulfan Approved, Investigational Phase 2 55-98-1 2478
13
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
14
Fludarabine Approved Phase 2,Phase 1 75607-67-9, 21679-14-1 30751
15
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
16
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
17
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
18
rituximab Approved Phase 2 174722-31-7 10201696
19
Tocopherol Approved, Investigational Phase 2 1406-66-2 14986
20
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
21
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 Tocotrienol Investigational Phase 2 6829-55-6
24 Anti-Inflammatory Agents Phase 1, Phase 2,Phase 2
25 Antirheumatic Agents Phase 1, Phase 2,Phase 2
26 Antineoplastic Agents, Alkylating Phase 2
27 Alkylating Agents Phase 2
28 Calcineurin Inhibitors Phase 2
29 Immunologic Factors Phase 2
30 Dermatologic Agents Phase 2
31 Cyclosporins Phase 2
32 Antifungal Agents Phase 2
33 Anti-Bacterial Agents Phase 2
34 Immunosuppressive Agents Phase 2
35 Antibiotics, Antitubercular Phase 2
36 Anti-Infective Agents Phase 2
37 Antitubercular Agents Phase 2
38 Tocopherols Phase 2
39 Antilymphocyte Serum Phase 2
40 Vitamins Phase 2
41 Antimetabolites Phase 2
42 Antimetabolites, Antineoplastic Phase 2
43 Tocotrienols Phase 2
44 N-monoacetylcystine Phase 2
45 Alpha-lipoic Acid Phase 2
46 Thioctic Acid Phase 2
47 Nucleic Acid Synthesis Inhibitors Phase 2
48
Zinc Approved, Investigational Phase 1 7440-66-6
49 insulin Phase 1
50 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
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 Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
3 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 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 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
6 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
7 A Study of JR-141 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03568175 Phase 2, Phase 3 JR-141
8 Study of Long Term Safety and Clinical Outcomes of Idursulfase IT and Elaprase Treatment in Pediatric Participants Who Have Completed Study HGT-HIT-094 Enrolling by invitation NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
9 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
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 GC1111_0.5mg/kg;GC1111_1.0mg/kg;Elaprase_0.5mg/kg
12 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
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 Idursulfase IT (1 mg);Idursulfase IT (10 mg);Idursulfase IT (30 mg)
14 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
15 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
16 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
17 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 Recombinant human heparan N-sulfatase [rhHNS]
18 RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome) Recruiting NCT03566043 Phase 1, Phase 2
19 A Study of JR-141 in Patients With Mucopolysaccharidosis II Recruiting NCT03359213 Phase 2 JR-141;JR-141;JR-141
20 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
21 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)
22 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
23 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 Idursulfase-IT
24 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
25 An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT03708965 Phase 2 JR-141
26 Study of Idursulfase-beta (GC1111) in Hunter Syndrome Not yet recruiting NCT02663024 Phase 2
27 Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome Completed NCT02262338 Phase 1 AGT-182
28 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
29 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
30 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Recruiting NCT03041324 Phase 1
31 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
32 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
33 Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
34 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
35 Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome Completed NCT01449240
36 An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Completed NCT00882921
37 A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 Completed NCT01602601 Idursulfase;GSK2788723
38 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
39 Relationships Between Macular Pigment Optical Density and Lacquer Cracks in High Myopic Patients. Completed NCT02205632 Not Applicable
40 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Completed NCT03161171
41 Mucopolysaccharidosis Type II Natural History Recruiting NCT03529786
42 Biomarker for Hunter Disease Recruiting NCT01330277
43 The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients Recruiting NCT02044692
44 Hunter Outcome Survey (HOS) Recruiting NCT03292887
45 Intensive Pharmacovigilance Program for Elaprase (SHP ELA-701) Recruiting NCT03582449
46 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
47 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
48 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
49 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
50 Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics Terminated NCT01675674

Search NIH Clinical Center for Mucopolysaccharidosis, Type Ii

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


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

Cochrane evidence based reviews: mucopolysaccharidosis ii

Genetic Tests for Mucopolysaccharidosis, Type Ii

Genetic tests related to Mucopolysaccharidosis, Type Ii:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis, Mps-Ii 29 IDS

Anatomical Context for Mucopolysaccharidosis, Type Ii

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Ii:

41
Heart, Bone, Liver, Spleen, Skin, Bone Marrow, Brain

Publications for Mucopolysaccharidosis, Type Ii

Articles related to Mucopolysaccharidosis, Type Ii:

(show top 50) (show all 429)
# Title Authors Year
1
Unexpected Exacerbation of Tracheal Stenosis in a Patient with Hunter Syndrome Undergoing Cardiac Surgery. ( 29862088 )
2018
2
Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis. ( 29478001 )
2018
3
Early childhood onset of high-grade atrioventricular block in Hunter syndrome. ( 29506582 )
2018
4
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. ( 29671225 )
2018
5
Oral and craniofacial manifestations in a Hunter syndrome patient with hematopoietic stem cell transplantation: A case report. ( 29314214 )
2018
6
Surgical consideration in Hunter syndrome: a case of hydrocephalus and a case of epidural hematoma. ( 30443672 )
2018
7
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report. ( 28820625 )
2018
8
Severe Aortic and Mitral Stenosis Secondary to Slowly Progressive Hunter Syndrome in an Elderly Patient. ( 28931788 )
2018
9
Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome). ( 29527552 )
2018
10
Image Gallery: Cutaneous findings in Hunter syndrome. ( 29785826 )
2018
11
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report. ( 29860540 )
2018
12
Hunter Syndrome Diagnosed by Otorhinolaryngologist. ( 29862106 )
2018
13
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus. ( 30024503 )
2018
14
Pearls & Oy-sters: Bow hunter syndrome: A rare cause of posterior circulation stroke: Do not look the other way. ( 30104228 )
2018
15
Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage. ( 30249478 )
2018
16
Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS). ( 30409228 )
2018
17
Bow Hunter Syndrome with Associated Pseudoaneurysm. ( 30463807 )
2018
18
Hunter Syndrome: Is It Time to Make It Part of Newborn Screening? ( 30499826 )
2018
19
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II. ( 29289480 )
2018
20
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII). ( 29648648 )
2018
21
Three-dimensional dental and craniofacial manifestations in patients with late diagnosis of mucopolysaccharidosis type II: report of 2 cases. ( 29754856 )
2018
22
Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature. ( 29801985 )
2018
23
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS). ( 29866148 )
2018
24
Brain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms. ( 29884617 )
2018
25
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII). ( 29917101 )
2018
26
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II. ( 30042467 )
2018
27
Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS. ( 30064964 )
2018
28
A retrospective comparison of propofol to dexmedetomidine for pediatric magnetic resonance imaging sedation in patients with mucopolysaccharidosis type II. ( 30375140 )
2018
29
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II. ( 29168031 )
2018
30
Cyclodextrin encapsulation of daidzein and genistein by grinding: implication on the glycosaminoglycan accumulation in mucopolysaccharidosis type II and III fibroblasts. ( 29168930 )
2018
31
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 29210515 )
2018
32
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice By CNS-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer. ( 28478695 )
2017
33
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. ( 28077157 )
2017
34
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. ( 28207863 )
2017
35
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II. ( 28334757 )
2017
36
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 28516041 )
2017
37
Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome). ( 28894675 )
2017
38
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model. ( 28513549 )
2017
39
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome). ( 27913904 )
2017
40
Pebbling of skin: Cutaneous marker of Hunter syndrome. ( 28217482 )
2017
41
Bow Hunter syndrome elicited by vertebral arterial occlusion after total arch replacement. ( 28329264 )
2017
42
Synchrotron X-ray diffraction to understand crystallographic texture of enamel affected by Hunter syndrome. ( 28458178 )
2017
43
Hunter Syndrome with Extensive Mongolian Spots. ( 28566927 )
2017
44
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase. ( 28593992 )
2017
45
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review. ( 28640238 )
2017
46
Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future. ( 28860717 )
2017
47
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome). ( 29158997 )
2017
48
Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II. ( 29210605 )
2017
49
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. ( 27351199 )
2017
50
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay. ( 28588666 )
2017

Variations for Mucopolysaccharidosis, Type Ii

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

75 (show top 50) (show all 126)
# 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 rs104894861
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 rs108530800
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, Type Ii:

6 (show top 50) (show all 169)
# Gene Variation Type Significance SNP ID Assembly Location
1 IDS NM_000202.7(IDS): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs199422227 GRCh37 Chromosome X, 148564603: 148564603
2 IDS NM_000202.7(IDS): c.1327C> T (p.Arg443Ter) single nucleotide variant Pathogenic rs199422227 GRCh38 Chromosome X, 149483072: 149483072
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.998C> T (p.Ser333Leu) single nucleotide variant Pathogenic rs104894853 GRCh38 Chromosome X, 149490322: 149490322
5 IDS NM_000202.7(IDS): c.1505G> C (p.Trp502Ser) single nucleotide variant Pathogenic rs199422228 GRCh37 Chromosome X, 148564425: 148564425
6 IDS NM_000202.7(IDS): c.1505G> C (p.Trp502Ser) single nucleotide variant Pathogenic rs199422228 GRCh38 Chromosome X, 149482894: 149482894
7 IDS NM_000202.7(IDS): c.479C> G (p.Pro160Arg) single nucleotide variant Pathogenic rs104894856 GRCh37 Chromosome X, 148582508: 148582508
8 IDS NM_000202.7(IDS): c.479C> G (p.Pro160Arg) single nucleotide variant Pathogenic rs104894856 GRCh38 Chromosome X, 149500977: 149500977
9 IDS NM_000202.7(IDS): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs104894860 GRCh37 Chromosome X, 148579832: 148579832
10 IDS NM_000202.7(IDS): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs104894860 GRCh38 Chromosome X, 149498301: 149498301
11 IDS NM_000202.7(IDS): c.1122C> T (p.Gly374=) single nucleotide variant Pathogenic rs113993948 GRCh37 Chromosome X, 148568514: 148568514
12 IDS NM_000202.7(IDS): c.1122C> T (p.Gly374=) single nucleotide variant Pathogenic rs113993948 GRCh38 Chromosome X, 149486983: 149486983
13 IDS NC_000023.11: g.(?_149478764)_(149505354_?)del deletion Pathogenic GRCh38 Chromosome X, 149478764: 149505354
14 IDS NM_000202.7(IDS): c.1264T> G (p.Cys422Gly) single nucleotide variant Pathogenic rs199422229 GRCh37 Chromosome X, 148564666: 148564666
15 IDS NM_000202.7(IDS): c.1264T> G (p.Cys422Gly) single nucleotide variant Pathogenic rs199422229 GRCh38 Chromosome X, 149483135: 149483135
16 IDS NM_000202.7(IDS): c.404A> G (p.Lys135Arg) single nucleotide variant Pathogenic rs104894861 GRCh37 Chromosome X, 148584856: 148584856
17 IDS NM_000202.7(IDS): c.404A> G (p.Lys135Arg) single nucleotide variant Pathogenic rs104894861 GRCh38 Chromosome X, 149503326: 149503326
18 IDS NM_000202.7(IDS): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs199422230 GRCh37 Chromosome X, 148564505: 148564505
19 IDS NM_000202.7(IDS): c.1425G> A (p.Trp475Ter) single nucleotide variant Pathogenic rs199422230 GRCh38 Chromosome X, 149482974: 149482974
20 IDS NM_000202.7(IDS): c.509_510delCA (p.Thr170Metfs) deletion Pathogenic rs483352904 GRCh37 Chromosome X, 148579836: 148579837
21 IDS NM_000202.7(IDS): c.509_510delCA (p.Thr170Metfs) deletion Pathogenic rs483352904 GRCh38 Chromosome X, 149498305: 149498306
22 IDS NM_000202.7(IDS): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs199422231 GRCh37 Chromosome X, 148564528: 148564528
23 IDS NM_000202.7(IDS): c.1402C> T (p.Arg468Trp) single nucleotide variant Pathogenic rs199422231 GRCh38 Chromosome X, 149482997: 149482997
24 IDS NM_000202.7(IDS): c.1403G> A (p.Arg468Gln) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
25 IDS NM_000202.7(IDS): c.1403G> A (p.Arg468Gln) single nucleotide variant Pathogenic rs113993946 GRCh38 Chromosome X, 149482996: 149482996
26 IDS NM_000202.7(IDS): c.349_351delTCC (p.Ser117del) deletion Pathogenic rs483352905 GRCh37 Chromosome X, 148584909: 148584911
27 IDS NM_000202.7(IDS): c.349_351delTCC (p.Ser117del) deletion Pathogenic rs483352905 GRCh38 Chromosome X, 149503379: 149503381
28 IDS NM_000202.7(IDS): c.1466G> C (p.Gly489Ala) single nucleotide variant no interpretation for the single variant rs104894863 GRCh37 Chromosome X, 148564464: 148564464
29 IDS NM_000202.7(IDS): c.1466G> C (p.Gly489Ala) single nucleotide variant no interpretation for the single variant rs104894863 GRCh38 Chromosome X, 149482933: 149482933
30 IDS NM_000202.7(IDS): c.1464G> T (p.Met488Ile) single nucleotide variant no interpretation for the single variant rs104894862 GRCh37 Chromosome X, 148564466: 148564466
31 IDS NM_000202.7(IDS): c.1464G> T (p.Met488Ile) single nucleotide variant no interpretation for the single variant rs104894862 GRCh38 Chromosome X, 149482935: 149482935
32 IDS NM_000202.7(IDS): c.103+1G> C single nucleotide variant Pathogenic rs398123247 GRCh37 Chromosome X, 148586564: 148586564
33 IDS NM_000202.7(IDS): c.103+1G> C single nucleotide variant Pathogenic rs398123247 GRCh38 Chromosome X, 149505034: 149505034
34 IDS NM_000202.7(IDS): c.1403G> C (p.Arg468Pro) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
35 IDS NM_000202.7(IDS): c.1403G> C (p.Arg468Pro) single nucleotide variant Pathogenic rs113993946 GRCh38 Chromosome X, 149482996: 149482996
36 IDS NM_000202.7(IDS): c.1508T> A (p.Val503Asp) single nucleotide variant Likely pathogenic rs398123248 GRCh37 Chromosome X, 148564422: 148564422
37 IDS NM_000202.7(IDS): c.1508T> A (p.Val503Asp) single nucleotide variant Likely pathogenic rs398123248 GRCh38 Chromosome X, 149482891: 149482891
38 IDS NM_000202.7(IDS): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs113993949 GRCh37 Chromosome X, 148585007: 148585007
39 IDS NM_000202.7(IDS): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs113993949 GRCh38 Chromosome X, 149503477: 149503477
40 IDS NM_000202.7(IDS): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs398123249 GRCh37 Chromosome X, 148584998: 148584998
41 IDS NM_000202.7(IDS): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs398123249 GRCh38 Chromosome X, 149503468: 149503468
42 IDS NM_000202.7(IDS): c.438C> T (p.Thr146=) single nucleotide variant Benign rs1141608 GRCh37 Chromosome X, 148582549: 148582549
43 IDS NM_000202.7(IDS): c.438C> T (p.Thr146=) single nucleotide variant Benign rs1141608 GRCh38 Chromosome X, 149501018: 149501018
44 IDS NM_000202.7(IDS): c.587T> C (p.Leu196Ser) single nucleotide variant Pathogenic rs398123250 GRCh37 Chromosome X, 148579759: 148579759
45 IDS NM_000202.7(IDS): c.587T> C (p.Leu196Ser) single nucleotide variant Pathogenic rs398123250 GRCh38 Chromosome X, 149498228: 149498228
46 IDS NM_000202.7(IDS): c.597delA (p.Lys199Asnfs) deletion Pathogenic rs398123251 GRCh37 Chromosome X, 148579749: 148579749
47 IDS NM_000202.7(IDS): c.597delA (p.Lys199Asnfs) deletion Pathogenic rs398123251 GRCh38 Chromosome X, 149498218: 149498218
48 IDS NM_000202.7(IDS): c.641C> T (p.Thr214Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736892 GRCh37 Chromosome X, 148579705: 148579705
49 IDS NM_000202.7(IDS): c.641C> T (p.Thr214Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61736892 GRCh38 Chromosome X, 149498174: 149498174
50 IDS NM_000202.7(IDS): c.1148delC (p.Pro383Leufs) deletion Pathogenic rs797044502 GRCh37 Chromosome X, 148568488: 148568488

Expression for Mucopolysaccharidosis, Type Ii

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Ii.

Pathways for Mucopolysaccharidosis, Type Ii

Pathways related to Mucopolysaccharidosis, Type Ii according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

GO Terms for Mucopolysaccharidosis, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.26 ARSA GAA GALNS IDS
2 azurophil granule lumen GO:0035578 9.16 ARSA GALNS
3 lysosomal lumen GO:0043202 8.92 ARSA GAA GALNS IDS

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.8 ARSA GAA GALNS

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.55 ARSA ARSH GAA GALNS IDS
2 arylsulfatase activity GO:0004065 8.96 ARSA ARSH
3 sulfuric ester hydrolase activity GO:0008484 8.92 ARSA ARSH GALNS IDS

Sources for Mucopolysaccharidosis, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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