MCID: MCP050
MIFTS: 64

Mucopolysaccharidosis, Type Ii

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

Aliases & Classifications for Mucopolysaccharidosis, Type Ii

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ii:

Name: Mucopolysaccharidosis, Type Ii 53 37
Hunter Syndrome 53 12 72 23 49 24 55 71
Iduronate 2-Sulfatase Deficiency 53 72 23 49 24 55 71
Mucopolysaccharidosis Ii 53 37 12 13 41 14 69
Mucopolysaccharidosis Type Ii 23 49 24 55 71 36
Mps Ii 53 23 49 24 71
Sulfoiduronate Sulfatase Deficiency 53 71 69
I2s Deficiency 23 49 24
Mps2 53 55 71
Mucopolysaccharidosis, Mps-Ii 12 28
Sids Deficiency 53 71
Ids Deficiency 53 71
Deficiency of Iduronate-2-Sulphatase 12
Mucopolysaccharidosis Type 2 55
Mps Ii - Hunter Syndrome 12
Mucopolysaccharidosis 2 71
Iduronate 2-Sulfatase 13
Hunter's Syndrome 12
Hunters Syndrome 51
Attenuated Mps 49
Severe Mps Ii 49
Mps 2 49
Mpsii 55

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
mucopolysaccharidosis, type 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:



Summaries for Mucopolysaccharidosis, Type Ii

NIH Rare Diseases : 49 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, Type Ii, also known as hunter syndrome, is related to scheie syndrome and mucopolysaccharidosis-plus syndrome, and has symptoms including seizures, joint stiffness and macrocephaly. 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.

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

Genetics Home Reference : 24 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 : 53 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 : 71 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.

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 32)
# Related Disease Score Top Affiliating Genes
1 scheie syndrome 32.3 GAA GALNS
2 mucopolysaccharidosis-plus syndrome 30.6 ARSH GALNS IDS
3 mucopolysaccharidosis type 2, attenuated form 11.4
4 mucopolysaccharidosis type 2, severe form 11.4
5 hurler syndrome 11.0
6 blood group, i system 10.6
7 horns in sheep 10.0
8 hematopoietic stem cell transplantation 9.9
9 mucopolysaccharidosis, type iva 9.8 ARSH GALNS
10 carpal tunnel syndrome 9.7
11 retinitis pigmentosa 9.7
12 aging 9.7
13 leber congenital amaurosis 4 9.7
14 46,xy gonadal dysgenesis, partial, with minifascicular neuropathy 9.7
15 mononeuropathy of the median nerve, mild 9.7
16 chorea, childhood-onset, with psychomotor retardation 9.7
17 hydronephrosis 9.7
18 choreatic disease 9.7
19 status epilepticus 9.7
20 cervicitis 9.7
21 central nervous system disease 9.7
22 retinitis 9.7
23 mongolian spot 9.7
24 nervous system disease 9.7
25 tièche-jadassohn nevus 9.7
26 mucopolysaccharidosis iv 9.7 ARSH GALNS
27 congenital disorder of glycosylation, type in 9.7
28 metachromatic leukodystrophy 9.6 ARSA ARSH
29 mucopolysaccharidosis type vi 9.5 ARSA ARSH GALNS
30 inherited metabolic disorder 9.5 ARSA GAA GALNS
31 multiple sulfatase deficiency 9.3 ARSA ARSH GALNS IDS
32 lysosomal storage disease 9.3 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:

53
Neurologic Central Nervous System:
seizures
hydrocephalus
neurodegeneration leading to profound mental retardation
cervical cord compression
normal intelligence in iib

Head And Neck Head:
macrocephaly
scaphocephaly

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

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

Abdomen Gastroin testinal:
diarrhea
intestinal pseudo-obstruction

Head And Neck Neck:
short neck

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

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:

55 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
2 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
3 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
4 short neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000470
5 pectus excavatum 55 31 frequent (33%) Frequent (79-30%) HP:0000767
6 ptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000508
7 kyphosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002808
8 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
9 macroglossia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000158
10 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
11 mandibular prognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000303
12 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
13 widely spaced teeth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000687
14 behavioral abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0000708
15 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
16 depressed nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0005280
17 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
18 malabsorption 55 31 frequent (33%) Frequent (79-30%) HP:0002024
19 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
20 abnormality of retinal pigmentation 55 31 frequent (33%) Frequent (79-30%) HP:0007703
21 mucopolysacchariduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0008155
22 laryngomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001601
23 abnormality of the cardiovascular system 55 31 frequent (33%) Frequent (79-30%) HP:0001626
24 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
25 generalized hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002230
26 dolichocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000268
27 abnormality of the hip bone 55 31 frequent (33%) Frequent (79-30%) HP:0003272
28 recurrent otitis media 55 31 frequent (33%) Frequent (79-30%) HP:0000403
29 depressed nasal ridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000457
30 thickened skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0001072
31 papilledema 55 31 hallmark (90%) Very frequent (99-80%) HP:0001085
32 intellectual disability, profound 55 31 hallmark (90%) Very frequent (99-80%) HP:0002187
33 tracheal stenosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002777
34 severe short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0003510
35 diarrhea 31 HP:0002014
36 hydrocephalus 31 HP:0000238
37 hepatomegaly 31 HP:0002240
38 short stature 31 HP:0004322
39 flexion contracture 31 HP:0001371
40 dysostosis multiplex 31 HP:0000943
41 delayed eruption of teeth 31 HP:0000684
42 congestive heart failure 31 HP:0001635
43 pes cavus 31 HP:0001761
44 neurodegeneration 31 HP:0002180
45 asthma 31 HP:0002099
46 split hand 31 HP:0001171
47 hoarse voice 31 HP:0001609
48 obstructive sleep apnea 31 HP:0002870
49 tracheobronchomalacia 31 HP:0002786
50 mild short stature 31 HP:0003502

UMLS symptoms related to Mucopolysaccharidosis, Type Ii:


seizures, hoarseness, diarrhea

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ii

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

(show top 50) (show all 53)
# 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 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 460612 4053
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
23
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
24 Anti-Inflammatory Agents Phase 1, Phase 2
25 Antirheumatic Agents Phase 1, 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 Antitubercular Agents Phase 2
32 Calcineurin Inhibitors Phase 2
33 Cyclosporins Phase 2
34 Dermatologic Agents Phase 2
35 Immunosuppressive Agents Phase 2
36 Antilymphocyte Serum Phase 2
37 Antimetabolites Phase 2
38 Antimetabolites, Antineoplastic Phase 2
39 N-monoacetylcystine Phase 2
40 Thioctic Acid Phase 2
41 Tocopherols Phase 2
42 Tocotrienols Phase 2
43 Vitamins Phase 2
44 Nucleic Acid Synthesis Inhibitors Phase 2
45 Alpha-lipoic Acid Nutraceutical Phase 2
46 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
47
Zinc Approved, Investigational Phase 1 7440-66-6 32051 23994
48 Antibodies Phase 1
49 Immunoglobulins Phase 1
50 Antibodies, Monoclonal Phase 1

Interventional clinical trials:

(show all 45)

# 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 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 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
9 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
10 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
11 A Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
12 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)
13 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
14 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
15 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
16 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]
17 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
18 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)
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
20 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
21 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
22 A Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT03359213 Phase 2 JR-141;JR-141;JR-141
23 Study of Idursulfase-beta (GC1111) in Hunter Syndrome Not yet recruiting NCT02663024 Phase 2
24 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
25 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
26 Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome Recruiting NCT02262338 Phase 1 AGT-182
27 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Recruiting NCT03041324 Phase 1
28 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
29 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
30 Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
31 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
32 Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome Completed NCT01449240
33 An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Completed NCT00882921
34 A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 Completed NCT01602601 Idursulfase;GSK2788723
35 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
36 Relationships Between Macular Pigment Optical Density and Lacquer Cracks in High Myopic Patients. Completed NCT02205632
37 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Completed NCT03161171
38 Biomarker for Hunter Disease Recruiting NCT01330277
39 The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients Recruiting NCT02044692
40 Hunter Outcome Survey (HOS) Recruiting NCT03292887
41 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
42 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
43 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
44 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
45 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 69 / NDF-RT 47 :


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 28 IDS

Anatomical Context for Mucopolysaccharidosis, Type Ii

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Ii:

38
Heart, Bone, Liver, Spleen, Skin, Brain, Bone Marrow

Publications for Mucopolysaccharidosis, Type Ii

Articles related to Mucopolysaccharidosis, Type Ii:

(show top 50) (show all 196)
# Title Authors Year
1
Prevention of Neurocognitive Deficiency in Mucopolysaccharidosis Type II Mice By CNS-Directed, AAV9-Mediated Iduronate Sulfatase Gene Transfer. ( 28478695 )
2017
2
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II Mouse Model. ( 28513549 )
2017
3
Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II. ( 28334757 )
2017
4
Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome). ( 28894675 )
2017
5
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. ( 28077157 )
2017
6
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 28516041 )
2017
7
Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II. ( 28207863 )
2017
8
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II. ( 27883178 )
2016
9
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
10
Mucopolysaccharidosis Type II-An Unexpected "3 in 1" Family. ( 27178643 )
2016
11
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. ( 26762690 )
2016
12
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy. ( 28011272 )
2016
13
Association between brain structural anomalies, electroencephalogram and history of seizures in Mucopolysaccharidosis type II (Hunter syndrome). ( 27913904 )
2016
14
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
15
The significance of electron microscopic examination of gingiva in cases of Hunter syndrome and hereditary gingival fibromatosis. ( 28171221 )
2016
16
Anterior Hypopituitarism and Treatment Response in Hunter Syndrome: A Comparison of Two Patients. ( 28018694 )
2016
17
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
18
Non-myeloablative preconditioning with ACK2 (anti-c-kit antibody) is efficient in bone marrow transplantation for murine models of mucopolysaccharidosis type II. ( 27590924 )
2016
19
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
20
Delivery of an adeno-associated virus vector into CSF attenuates central nervous system disease in mucopolysaccharidosis type II mice. ( 27510804 )
2016
21
Hematopoietic Stem Cell Gene Therapy Corrects Neuropathic Phenotype in Murine Model of Mucopolysaccharidosis Type II. ( 25761450 )
2015
22
Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II. ( 26520066 )
2015
23
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome). ( 25902842 )
2015
24
Cervical Spine MRI Findings in Patients with Mucopolysaccharidosis Type II. ( 25721852 )
2015
25
Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene. ( 24780617 )
2014
26
Mucopolysaccharidosis type II, Hunter's syndrome. ( 25345092 )
2014
27
Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome). ( 24399699 )
2014
28
Chiari 1 malformation and holocord syringomyelia in hunter syndrome. ( 23818180 )
2014
29
The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life. ( 23837440 )
2013
30
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
31
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. ( 24005894 )
2013
32
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population. ( 23430804 )
2013
33
Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II). ( 23370478 )
2013
34
Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. ( 23529876 )
2013
35
A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. ( 24225991 )
2013
36
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). ( 23497636 )
2013
37
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. ( 24056375 )
2013
38
Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome). ( 24238892 )
2013
39
Mucopolysaccharidosis Type II and the G374sp Mutation. ( 23801937 )
2013
40
A 3' splice site mutation of IDS gene in a Chinese family with mucopolysaccharidosis type II. ( 23867855 )
2013
41
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
42
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study. ( 23800320 )
2013
43
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients. ( 24125893 )
2013
44
Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice. ( 24100247 )
2013
45
Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome). ( 23726952 )
2013
46
Idursulfatase therapy in mucopolysaccharidosis type II: after 2.5 years of treatment--no benefit for older patients with multisystem involvement. ( 22353301 )
2012
47
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II. ( 22622771 )
2012
48
Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II. ( 21291454 )
2012
49
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. ( 23022072 )
2012
50
Mucopolysaccharidosis type II in females and response to enzyme replacement therapy. ( 22246721 )
2012

Variations for Mucopolysaccharidosis, Type Ii

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

71 (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 66)
# 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.998C> T (p.Ser333Leu) single nucleotide variant Pathogenic rs104894853 GRCh37 Chromosome X, 148571853: 148571853
3 IDS NM_000202.7(IDS): c.1505G> C (p.Trp502Ser) single nucleotide variant Pathogenic rs199422228 GRCh37 Chromosome X, 148564425: 148564425
4 IDS NM_000202.7(IDS): c.479C> G (p.Pro160Arg) single nucleotide variant Pathogenic rs104894856 GRCh37 Chromosome X, 148582508: 148582508
5 IDS NM_000202.7(IDS): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic rs104894860 GRCh37 Chromosome X, 148579832: 148579832
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) insertion 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.1033T> A (p.Trp345Arg) single nucleotide variant Pathogenic rs193302906 GRCh37 Chromosome X, 148568603: 148568603
30 IDS NM_000202.7(IDS): c.1433A> G (p.Asp478Gly) single nucleotide variant Pathogenic rs864622773 GRCh37 Chromosome X, 148564497: 148564497
31 IDS NM_000202.7(IDS): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs864622772 GRCh38 Chromosome X, 149483006: 149483006
32 IDS NM_000202.7(IDS): c.1181-1G> A single nucleotide variant Pathogenic rs864622777 GRCh38 Chromosome X, 149483219: 149483219
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 GRCh38 Chromosome X, 149496405: 149496405
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 GRCh38 Chromosome X, 149501031: 149501031
44 IDS NM_000202.7(IDS): c.411delT (p.His138Thrfs) deletion Pathogenic rs864622776 GRCh38 Chromosome X, 149503319: 149503319
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 GRCh38 Chromosome X, 149503494: 149503494
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 GRCh38 Chromosome X, 149505101: 149505116

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:

36
# 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....