MCID: MCP050
MIFTS: 63

Mucopolysaccharidosis, Type Ii

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Respiratory diseases, Blood 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
Inheritance:
x-linked recessive

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


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 type 2, severe form, and has symptoms including diarrhea, hoarseness and seizures. 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 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 all 29)
# Related Disease Score Top Affiliating Genes
1 scheie syndrome 32.3 GAA GALNS
2 mucopolysaccharidosis type 2, severe form 11.5
3 mucopolysaccharidosis type 2, attenuated form 11.4
4 hurler-scheie syndrome 11.0
5 hurler syndrome 11.0
6 hematopoietic stem cell transplantation 9.9
7 krabbe disease 9.8 ARSA GAA
8 mucopolysaccharidosis, type iva 9.8 ARSH GALNS
9 carpal tunnel syndrome 9.8
10 retinitis pigmentosa 9.8
11 aging 9.8
12 leber congenital amaurosis 4 9.8
13 mononeuropathy of the median nerve, mild 9.8
14 inguinal hernia 9.8
15 hydronephrosis 9.8
16 status epilepticus 9.8
17 cervicitis 9.8
18 central nervous system disease 9.8
19 retinitis 9.8
20 mongolian spot 9.8
21 nervous system disease 9.8
22 mucopolysaccharidosis iv 9.7 ARSH GALNS
23 metachromatic leukodystrophy 9.7 ARSA ARSH
24 mucopolysaccharidosis-plus syndrome 9.4 ARSH GALNS IDS
25 inherited metabolic disorder 9.2 ARSA GAA GALNS
26 multiple sulfatase deficiency 8.9 ARSA ARSH GALNS IDS
27 lysosomal storage disease 8.9 ARSA GAA GALNS IDS
28 mucopolysaccharidosis type vi 8.7 ARSA ARSH GAA GALNS
29 trehalase deficiency 8.2 AFF2 GAA GALNS

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

AbdomenSpleen:
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:


diarrhea, hoarseness, seizures

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 Hormone Antagonists Phase 2, Phase 3
3 Hormones Phase 2, Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
5
Adalimumab Approved Phase 1, Phase 2,Phase 2 331731-18-1 16219006
6
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
7
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
10
Mesna Approved, Investigational Phase 2 3375-50-6 598
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
13
Mycophenolic acid Approved Phase 2 24280-93-1 446541
14
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
15
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
16
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
17
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
18
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
19
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
20
rituximab Approved Phase 2 174722-31-7 10201696
21 tannic acid Approved, Nutraceutical Phase 2
22
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24 Anti-Inflammatory Agents Phase 1, Phase 2,Phase 2
25 Antirheumatic Agents Phase 1, Phase 2,Phase 2
26 Alkylating Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Antifungal Agents Phase 2
30 Anti-Infective Agents Phase 2
31 Antineoplastic Agents, Alkylating Phase 2
32 Antitubercular Agents Phase 2
33 Calcineurin Inhibitors Phase 2
34 Cyclosporins Phase 2
35 Dermatologic Agents Phase 2
36 Immunosuppressive Agents Phase 2
37 Antilymphocyte Serum Phase 2
38 Antimetabolites Phase 2
39 Antimetabolites, Antineoplastic Phase 2
40 N-monoacetylcystine Phase 2
41 Thioctic Acid Phase 2
42 Tocopherols Phase 2
43 Tocotrienols Phase 2
44 Vitamins Phase 2
45 Nucleic Acid Synthesis Inhibitors Phase 2
46 Alpha-lipoic Acid Nutraceutical Phase 2
47 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
48
Zinc Approved, Investigational Phase 1 7440-66-6 23994
49 Antibodies Phase 1
50 Immunoglobulins Phase 1

Interventional clinical trials:

(show all 48)
# 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 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 Idursulfase-IT
8 A Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT03568175 Phase 2, Phase 3 JR-141
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 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
19 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)
20 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
21 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
22 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
23 RGX-121 Gene Therapy in Patients With MPS II (Hunter Syndrome) Not yet recruiting NCT03566043 Phase 1, Phase 2
24 A Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT03359213 Phase 2 JR-141;JR-141;JR-141
25 Study of Idursulfase-beta (GC1111) in Hunter Syndrome Not yet recruiting NCT02663024 Phase 2
26 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
27 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
28 Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome Recruiting NCT02262338 Phase 1 AGT-182
29 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Recruiting NCT03041324 Phase 1
30 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
31 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
32 Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
33 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
34 Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome Completed NCT01449240
35 An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Completed NCT00882921
36 A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 Completed NCT01602601 Idursulfase;GSK2788723
37 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
38 Relationships Between Macular Pigment Optical Density and Lacquer Cracks in High Myopic Patients. Completed NCT02205632 Not Applicable
39 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Completed NCT03161171
40 Mucopolysaccharidosis Type II Natural History Recruiting NCT03529786
41 The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients Recruiting NCT02044692
42 Hunter Outcome Survey (HOS) Recruiting NCT03292887
43 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
44 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
45 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
46 Biomarker for Hunter Disease Terminated NCT01330277
47 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
48 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, Brain, Bone Marrow

Publications for Mucopolysaccharidosis, Type Ii

Articles related to Mucopolysaccharidosis, Type Ii:

(show top 50) (show all 209)
# 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
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice By CNS-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer. ( 28478695 )
2017
4
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. ( 28077157 )
2017
5
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. ( 28207863 )
2017
6
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II. ( 28334757 )
2017
7
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 28516041 )
2017
8
Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome). ( 28894675 )
2017
9
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model. ( 28513549 )
2017
10
Multimodal detection of GM2 and GM3 lipid species in the brain of mucopolysaccharidosis type II mouse by serial imaging mass spectrometry and immunohistochemistry. ( 27873002 )
2016
11
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). ( 26845288 )
2016
12
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II. ( 27590924 )
2016
13
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. ( 27246110 )
2016
14
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. ( 28171221 )
2016
15
Generation of human induced pluripotent stem cell (iPSC) line from an unaffected female carrier of Mucopolysaccharidosis type II (MPS II) disorder. ( 27789401 )
2016
16
Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients. ( 28018694 )
2016
17
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice. ( 27510804 )
2016
18
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II. ( 27883178 )
2016
19
Cost-Effectiveness of the Quantification of Enzymatic Activity in Leukocytes in Comparison to Its Nonrealization for a Rare Disease in Latin America: The Case of Mucopolysaccharidosis Type II in Colombia. ( 27986197 )
2016
20
Mucopolysaccharidosis Type II-An Unexpected &amp;quot;3 in 1&amp;quot; Family. ( 27178643 )
2016
21
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy. ( 28011272 )
2016
22
X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female. ( 27187040 )
2016
23
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. ( 26762690 )
2016
24
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome). ( 27913904 )
2016
25
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II. ( 26520066 )
2015
26
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome). ( 25902842 )
2015
27
Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II. ( 25761450 )
2015
28
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II. ( 25721852 )
2015
29
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene. ( 24780617 )
2014
30
Mucopolysaccharidosis type II, Hunter's syndrome. ( 25345092 )
2014
31
Whole-exome sequencing expands the phenotype of Hunter syndrome. ( 23844659 )
2014
32
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). ( 24399699 )
2014
33
Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation. ( 25044788 )
2014
34
Chiari 1 malformation and holocord syringomyelia in hunter syndrome. ( 23818180 )
2014
35
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. ( 23232253 )
2013
36
Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II). ( 23370478 )
2013
37
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. ( 23529876 )
2013
38
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. ( 24005894 )
2013
39
Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice. ( 24100247 )
2013
40
Mucopolysaccharidosis Type II and the G374sp Mutation. ( 23801937 )
2013
41
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients. ( 24125893 )
2013
42
The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life. ( 23837440 )
2013
43
Mucopolysaccharidosis type II with inguinal hernia. ( 24908534 )
2013
44
A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II. ( 23867855 )
2013
45
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population. ( 23430804 )
2013
46
Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome). ( 24238892 )
2013
47
A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. ( 24225991 )
2013
48
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. ( 23707223 )
2013
49
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). ( 23497636 )
2013
50
Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome). ( 23726952 )
2013

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
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 155)
# 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.103+1G> C single nucleotide variant Pathogenic rs398123247 GRCh37 Chromosome X, 148586564: 148586564
29 IDS NM_000202.7(IDS): c.103+1G> C single nucleotide variant Pathogenic rs398123247 GRCh38 Chromosome X, 149505034: 149505034
30 IDS NM_000202.7(IDS): c.1403G> C (p.Arg468Pro) single nucleotide variant Pathogenic rs113993946 GRCh37 Chromosome X, 148564527: 148564527
31 IDS NM_000202.7(IDS): c.1403G> C (p.Arg468Pro) single nucleotide variant Pathogenic rs113993946 GRCh38 Chromosome X, 149482996: 149482996
32 IDS NM_000202.7(IDS): c.1508T> A (p.Val503Asp) single nucleotide variant Likely pathogenic rs398123248 GRCh37 Chromosome X, 148564422: 148564422
33 IDS NM_000202.7(IDS): c.1508T> A (p.Val503Asp) single nucleotide variant Likely pathogenic rs398123248 GRCh38 Chromosome X, 149482891: 149482891
34 IDS NM_000202.7(IDS): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs113993949 GRCh37 Chromosome X, 148585007: 148585007
35 IDS NM_000202.7(IDS): c.253G> A (p.Ala85Thr) single nucleotide variant Pathogenic rs113993949 GRCh38 Chromosome X, 149503477: 149503477
36 IDS NM_000202.7(IDS): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs398123249 GRCh37 Chromosome X, 148584998: 148584998
37 IDS NM_000202.7(IDS): c.262C> T (p.Arg88Cys) single nucleotide variant Pathogenic rs398123249 GRCh38 Chromosome X, 149503468: 149503468
38 IDS NM_000202.7(IDS): c.587T> C (p.Leu196Ser) single nucleotide variant Pathogenic rs398123250 GRCh37 Chromosome X, 148579759: 148579759
39 IDS NM_000202.7(IDS): c.587T> C (p.Leu196Ser) single nucleotide variant Pathogenic rs398123250 GRCh38 Chromosome X, 149498228: 149498228
40 IDS NM_000202.7(IDS): c.597delA (p.Lys199Asnfs) deletion Pathogenic rs398123251 GRCh37 Chromosome X, 148579749: 148579749
41 IDS NM_000202.7(IDS): c.597delA (p.Lys199Asnfs) deletion Pathogenic rs398123251 GRCh38 Chromosome X, 149498218: 149498218
42 IDS NM_000202.7(IDS): c.1148delC (p.Pro383Leufs) deletion Pathogenic rs797044502 GRCh37 Chromosome X, 148568488: 148568488
43 IDS NM_000202.7(IDS): c.1148delC (p.Pro383Leufs) deletion Pathogenic rs797044502 GRCh38 Chromosome X, 149486957: 149486957
44 IDS NM_000202.7(IDS): c.1016T> C (p.Leu339Pro) single nucleotide variant Pathogenic rs864622771 GRCh37 Chromosome X, 148568620: 148568620
45 IDS NM_000202.7(IDS): c.884A> T (p.Lys295Ile) single nucleotide variant Pathogenic rs113993953 GRCh38 Chromosome X, 149490436: 149490436
46 IDS NM_000202.7(IDS): c.820G> T (p.Glu274Ter) single nucleotide variant Pathogenic rs193302907 GRCh38 Chromosome X, 149496405: 149496405
47 IDS NM_000202.7(IDS): c.208dupC (p.His70Profs) insertion Pathogenic rs797044671 GRCh37 Chromosome X, 148585719: 148585719
48 IDS NM_000202.7(IDS): c.208dupC (p.His70Profs) insertion Pathogenic rs797044671 GRCh38 Chromosome X, 149504189: 149504189
49 IDS NM_000202.7(IDS): c.317_318insTCAA (p.Ser107Glnfs) insertion Pathogenic rs797044703 GRCh37 Chromosome X, 148584942: 148584943
50 IDS NM_000202.7(IDS): c.317_318insTCAA (p.Ser107Glnfs) insertion Pathogenic rs797044703 GRCh38 Chromosome X, 149503412: 149503413

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 9.33 ARSA GAA GALNS
2 metabolic process GO:0008152 9.02 ARSA ARSH GAA GALNS IDS
3 glycosphingolipid metabolic process GO:0006687 8.96 ARSA ARSH

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
Content
Loading form....