MCID: MCP009
MIFTS: 62

Mucopolysaccharidosis Ii

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

Aliases & Classifications for Mucopolysaccharidosis Ii

MalaCards integrated aliases for Mucopolysaccharidosis Ii:

Name: Mucopolysaccharidosis Ii 54 38 12 13 42 14 69
Hunter Syndrome 12 23 50 24 25 56 71
Iduronate 2-Sulfatase Deficiency 23 50 24 25 56 71
Mucopolysaccharidosis Type Ii 23 50 24 25 56 71
Mps Ii 23 50 24 25 71
I2s Deficiency 23 50 24 25
Sulfoiduronate Sulfatase Deficiency 71 69
Mucopolysaccharidosis, Mps-Ii 12 29
Mps2 56 71
Deficiency of Iduronate-2-Sulphatase 12
Mucopolysaccharidosis Type 2 56
Mps Ii - Hunter Syndrome 12
Mucopolysaccharidosis 2 71
Iduronate 2-Sulfatase 13
Hunter's Syndrome 12
Hunters Syndrome 52
Sids Deficiency 71
Attenuated Mps 50
Ids Deficiency 71
Severe Mps Ii 50
Mps 2 50
Mpsii 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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 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 Ii

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

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

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.

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

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

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

GeneReviews: NBK1274

Related Diseases for Mucopolysaccharidosis Ii

Diseases in the Mucopolysaccharidosis Ih family:

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

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

(show all 30)
id Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis is 11.0
2 mucopolysaccharidosis ih 10.8
3 mucopolysaccharidosis type 2, attenuated form 10.7
4 mucopolysaccharidosis type 2, severe form 10.7
5 ciliary dyskinesia, primary, 33 10.3 ARSH GALNS
6 klippel-feil syndrome 1 10.3 ARSH GALNS
7 muscle disorders 10.3 ARSH GALNS
8 multifocal motor neuropathy 10.2 ARSH SUMF1
9 chondrodysplasia punctata, x-linked recessive 10.1 ARSH SUMF1
10 mucopolysaccharidosis ih/s 10.0 GAA GALNS
11 microcephaly 16, primary, autosomal recessive 10.0 ARSH GALNS IDS
12 mitochondrial dna depletion syndrome 1 10.0 ARSH SUMF1
13 ovarian clear cell malignant adenofibroma 9.8 GAA GALNS
14 hematopoietic stem cell transplantation 9.8
15 tracheal stenosis 9.8
16 hypospadias 1, x-linked 9.7 AFF2 FMR1
17 autosomal recessive disease 9.6 AFF2 FMR1
18 adenoiditis 9.6
19 syringomyelia 9.6
20 mongolian spot 9.6
21 hypopituitarism 9.6
22 pulmonary interstitial glycogenosis 9.6
23 gingival fibromatosis 9.6
24 gingivitis 9.6
25 premature ovarian failure 1 9.6 AFF2 FMR1
26 intellectual developmental disorder with dysmorphic facies and ptosis 9.5 ARSH GALNS IDS SUMF1
27 malignant glioma 9.3 GAA GALNS IDS SUMF1
28 ciliary dyskinesia, primary, 29 9.3 ARSH GAA GALNS SUMF1
29 pervasive developmental disorder 9.3 AFF2 FMR1
30 ectodermal dysplasia, hypohidrotic, with immune deficiency 7.1 AFF2 ARSH FMR1 GAA GABRA3 GALNS

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



Diseases related to Mucopolysaccharidosis Ii

Symptoms & Phenotypes for Mucopolysaccharidosis Ii

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
coarse facies

Skin Nails & Hair- Hair:
hypertrichosis

Abdomen- External Features:
umbilical hernia
inguinal hernia

Abdomen- Spleen:
splenomegaly

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

Skeletal:
dysostosis multiplex

Skeletal- Limbs:
flexion contractures

Head And Neck- Head:
macrocephaly
scaphocephaly

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

Respiratory- Airways:
asthma
obstructive sleep apnea
tracheobronchomalacia

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

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

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

Head And Neck- Mouth:
macroglossia
full lips

Abdomen- Gastroin testinal:
diarrhea
intestinal pseudo-obstruction

Abdomen- Liver:
hepatomegaly

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

Head And Neck- Ears:
hearing loss
recurrent otitis media

Skeletal- Spine:
kyphosis

Head And Neck- Neck:
short neck

Skeletal- Feet:
pes cavus

Head And Neck- Teeth:
delayed tooth eruption
widely spaced teeth

Voice:
hoarse voice

Skeletal- Hands:
claw hand

Head And Neck- Nose:
mucoid nasal discharge


Clinical features from OMIM:

309900

Human phenotypes related to Mucopolysaccharidosis Ii:

56 32 (show top 50) (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000158
2 optic atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000648
3 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
4 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
5 seizures 56 32 frequent (33%) Frequent (79-30%) HP:0001250
6 ptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000508
7 depressed nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0005280
8 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
9 kyphosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002808
10 short neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000470
11 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
12 inguinal hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000023
13 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
14 malabsorption 56 32 frequent (33%) Frequent (79-30%) HP:0002024
15 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
16 widely spaced teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000687
17 intellectual disability, profound 56 32 hallmark (90%) Very frequent (99-80%) HP:0002187
18 dolichocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000268
19 recurrent otitis media 56 32 frequent (33%) Frequent (79-30%) HP:0000403
20 tracheal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002777
21 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
22 laryngomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001601
23 thick lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000179
24 generalized hirsutism 56 32 hallmark (90%) Very frequent (99-80%) HP:0002230
25 papilledema 56 32 hallmark (90%) Very frequent (99-80%) HP:0001085
26 thickened skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0001072
27 depressed nasal ridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000457
28 mandibular prognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000303
29 behavioral abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0000708
30 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703
31 mucopolysacchariduria 56 32 hallmark (90%) Very frequent (99-80%) HP:0008155
32 abnormality of the cardiovascular system 56 32 frequent (33%) Frequent (79-30%) HP:0001626
33 abnormality of the hip bone 56 32 frequent (33%) Frequent (79-30%) HP:0003272
34 severe short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0003510
35 short stature 32 HP:0004322
36 hypertrichosis 32 HP:0000998
37 diarrhea 32 HP:0002014
38 hepatomegaly 32 HP:0002240
39 hydrocephalus 32 HP:0000238
40 dysostosis multiplex 32 HP:0000943
41 pes cavus 32 HP:0001761
42 congestive heart failure 32 HP:0001635
43 neurodegeneration 32 HP:0002180
44 asthma 32 HP:0002099
45 obstructive sleep apnea 32 HP:0002870
46 hoarse voice 32 HP:0001609
47 dermatan sulfate excretion in urine 32 HP:0008301
48 split hand 32 HP:0001171
49 heparan sulfate excretion in urine 32 HP:0002159
50 cervical cord compression 32 HP:0002341

UMLS symptoms related to Mucopolysaccharidosis Ii:


diarrhea, hoarseness, seizures

Drugs & Therapeutics for Mucopolysaccharidosis Ii

FDA approved drugs:

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

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

(show top 50) (show all 53)
id 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
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
8 Thiotepa Approved Phase 2,Phase 1 52-24-4 5453
9
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
10
Melphalan Approved Phase 2,Phase 1 148-82-3 4053 460612
11
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
12
Busulfan Approved, Investigational Phase 2 55-98-1 2478
13
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
14
rituximab Approved Phase 2 174722-31-7 10201696
15
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Mesna Approved Phase 2 3375-50-6 598
18
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
19
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
20
Mycophenolic acid Approved Phase 2 24280-93-1 446541
21 Tocopherol Approved, Nutraceutical Phase 2
22
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
23 tannic acid Approved, Nutraceutical Phase 2
24 Anti-Inflammatory Agents Phase 1, Phase 2
25 Antirheumatic Agents Phase 1, Phase 2
26 Alkylating Agents Phase 2
27 Antilymphocyte Serum Phase 2
28 Antimetabolites Phase 2
29 Antimetabolites, Antineoplastic Phase 2
30 Immunosuppressive Agents Phase 2
31 N-monoacetylcystine Phase 2
32 Thioctic Acid Phase 2
33 Tocopherols Phase 2
34 Tocotrienols Phase 2
35 Vitamins Phase 2
36 Nucleic Acid Synthesis Inhibitors Phase 2
37 Liver Extracts Phase 1, Phase 2
38 Anti-Bacterial Agents Phase 2
39 Antibiotics, Antitubercular Phase 2
40 Antifungal Agents Phase 2
41 Anti-Infective Agents Phase 2
42 Calcineurin Inhibitors Phase 2
43 Cyclosporins Phase 2
44 Dermatologic Agents Phase 2
45 Alpha-lipoic Acid Nutraceutical Phase 2
46 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
47
Zinc Approved 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 50)

id 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 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
4 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
5 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
6 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Active, not recruiting NCT02055118 Phase 2, Phase 3
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 Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome) Completed NCT00004454 Phase 1, Phase 2
13 A Safety and Dose Ranging Study of Idursulfase (Intrathecal) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Hunter Syndrome Who Have Central Nervous System Involvement and Are Receiving Treatment With Elaprase® Completed NCT00920647 Phase 1, Phase 2 Idursulfase IT (1 mg);Idursulfase IT (10 mg);Idursulfase IT (30 mg)
14 Effects of Adalimumab in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
15 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]
16 A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
17 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
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 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH Recruiting NCT02716246 Phase 1, Phase 2
22 Gene Therapy in Patients With Mucopolysaccharidosis Disease Recruiting NCT03173521 Phase 1, Phase 2
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 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
25 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
26 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2 SBC-103
27 A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Active, not recruiting NCT02618512 Phase 1, Phase 2 SBC-103
28 Study of Idursulfase-beta (GC1111) in Hunter Syndrome Not yet recruiting NCT02663024 Phase 2
29 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
30 Unrelated Umbilical Cord Blood Transplantation Augmented With ALDHbr Umbilical Cord Blood Cells Completed NCT00692926 Phase 1
31 Safety and Dose Ranging Study of Insulin Receptor MoAb-IDS Fusion Protein in Patients With Hunter Syndrome Recruiting NCT02262338 Phase 1 AGT-182
32 Ascending Dose Study of Genome Editing by the Zinc Finger Nuclease (ZFN) Therapeutic SB-913 in Subjects With MPS II Recruiting NCT03041324 Phase 1
33 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
34 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
35 Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
36 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
37 Collection and Study of Cerebrospinal Fluid in Patients With Hunter Syndrome Completed NCT01449240
38 An Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Completed NCT00882921
39 A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 Completed NCT01602601 Idursulfase;GSK2788723
40 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
41 Relationships Between Macular Pigment Optical Density and Lacquer Cracks in High Myopic Patients. Completed NCT02205632
42 The Long-term Safety Study of Idursulfase-beta in Hunter Syndrome(Mucopolysaccharidosis II) Patients Recruiting NCT02044692
43 Biomarker for Hunter Disease Recruiting NCT01330277
44 Hunter Outcome Survey (HOS) Recruiting NCT03292887
45 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
46 Longitudinal Study of Bone Disease in Children With Mucopolysaccharidoses (MPS) I, II, and VI Active, not recruiting NCT01521429
47 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Not yet recruiting NCT03161171
48 Mucopolysaccharidosis (MPS) Screening in a High-Risk Population With Previous Surgical Repair or Presence of Inguinal and/or Umbilical Hernia Combined With Pediatric ENT Surgery or Bronchoscopy Not yet recruiting NCT03017677
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 Ii

Cell-based therapeutics:


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

Cochrane evidence based reviews: mucopolysaccharidosis ii

Genetic Tests for Mucopolysaccharidosis Ii

Genetic tests related to Mucopolysaccharidosis Ii:

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

Anatomical Context for Mucopolysaccharidosis Ii

MalaCards organs/tissues related to Mucopolysaccharidosis Ii:

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

Publications for Mucopolysaccharidosis Ii

Articles related to Mucopolysaccharidosis Ii:

(show top 50) (show all 61)
id Title Authors Year
1
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7A years follow-up. ( 28649514 )
2017
2
Aversive and non-aversive memory impairment in the mucopolysaccharidosis II mouse model. ( 28918469 )
2017
3
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. ( 28543354 )
2017
4
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. ( 28673849 )
2017
5
Carpal Tunnel Syndrome in the Setting of Mucopolysaccharidosis II (Hunter Syndrome). ( 28894675 )
2017
6
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients. ( 28243577 )
2017
7
The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry. ( 27331006 )
2016
8
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012. ( 27349225 )
2016
9
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. ( 25712379 )
2015
10
A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. ( 25834948 )
2015
11
Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome). ( 25902842 )
2015
12
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. ( 24515576 )
2014
13
Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy. ( 25022704 )
2014
14
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). ( 23497636 )
2013
15
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase. ( 23988379 )
2013
16
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient. ( 23512580 )
2013
17
Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II). ( 23370478 )
2013
18
Relationship of sleep to pulmonary function in mucopolysaccharidosis II. ( 23305961 )
2013
19
Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey. ( 21866356 )
2012
20
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase. ( 23430900 )
2012
21
Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). ( 22190500 )
2012
22
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. ( 21672014 )
2012
23
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). ( 21192662 )
2011
24
A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing. ( 21910981 )
2011
25
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). ( 19773189 )
2010
26
Central corneal thickness in mucopolysaccharidosis II and VI. ( 20098308 )
2010
27
Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. ( 20203116 )
2010
28
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). ( 18245410 )
2008
29
Gene symbol: IDS. Disease: Mucopolysaccharidosis II. ( 20960627 )
2008
30
Idursulfase for the treatment of mucopolysaccharidosis II. ( 18201153 )
2008
31
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. ( 19707363 )
2008
32
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). ( 17082248 )
2007
33
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). ( 17876721 )
2007
34
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. ( 17569950 )
2007
35
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). ( 17185020 )
2007
36
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms. ( 16495038 )
2006
37
Prospective study of 11 Brazilian patients with mucopolysaccharidosis II. ( 16912829 )
2006
38
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). ( 16912578 )
2006
39
Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome). ( 10726837 )
1998
40
[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]. ( 8685031 )
1996
41
MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). ( 8837099 )
1996
42
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). ( 8747590 )
1995
43
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). ( 7981716 )
1994
44
Structural gene aberrations in mucopolysaccharidosis II (Hunter). ( 1352274 )
1992
45
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). ( 1906048 )
1991
46
Hunter syndrome (mucopolysaccharidosis II). ( 2113673 )
1990
47
MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). ( 2122274 )
1990
48
Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. ( 2507197 )
1989
49
Pathological and biochemical study in the adenoid of mucopolysaccharidosis II. ( 3938449 )
1985
50
Hearing loss in Hunter's syndrome--mucopolysaccharidosis II. ( 6432613 )
1984

Variations for Mucopolysaccharidosis Ii

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

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

ClinVar genetic disease variations for Mucopolysaccharidosis Ii:

6 (show top 50) (show all 64)
id 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.1433A> G (p.Asp478Gly) single nucleotide variant Pathogenic rs864622773 GRCh37 Chromosome X, 148564497: 148564497
29 IDS NM_000202.7(IDS): c.1393C> T (p.Gln465Ter) single nucleotide variant Pathogenic rs864622772 GRCh38 Chromosome X, 149483006: 149483006
30 IDS NM_000202.7(IDS): c.1181-1G> A single nucleotide variant Pathogenic rs864622777 GRCh38 Chromosome X, 149483219: 149483219
31 IDS NM_000202.7(IDS): c.1033T> A (p.Trp345Arg) single nucleotide variant Pathogenic rs193302906 GRCh38 Chromosome X, 149487072: 149487072
32 IDS NM_000202.7(IDS): c.1016T> C (p.Leu339Pro) single nucleotide variant Pathogenic rs864622771 GRCh38 Chromosome X, 149487089: 149487089
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 Ii

Search GEO for disease gene expression data for Mucopolysaccharidosis Ii.

Pathways for Mucopolysaccharidosis Ii

GO Terms for Mucopolysaccharidosis Ii

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

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

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

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

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

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

Sources for Mucopolysaccharidosis Ii

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