Mucopolysaccharidosis, Type Ii (MPS2)

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

Aliases & Classifications for Mucopolysaccharidosis, Type Ii

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ii:

Name: Mucopolysaccharidosis, Type Ii 57 37 39 32
Hunter Syndrome 57 12 73 25 20 43 58 72
Mucopolysaccharidosis Ii 57 12 29 13 44 15 70
Iduronate 2-Sulfatase Deficiency 57 73 20 43 58 72
Mucopolysaccharidosis Type Ii 25 20 43 58 72 36
Mps Ii 57 25 20 43 72
Sulfoiduronate Sulfatase Deficiency 57 72 70
Mucopolysaccharidosis, Mps-Ii 12 29 6
Mps2 57 58 72
Sids Deficiency 57 72
Ids Deficiency 57 72
I2s Deficiency 20 43
Mucopolysaccharidosis Type Ii, Attenuated Form 58
Mucopolysaccharidosis Type 2, Attenuated Form 58
Mucopolysaccharidosis, Type Ii, Severe Form 6
Mucopolysaccharidosis Type Ii, Severe Form 58
Mucopolysaccharidosis Type 2, Severe Form 58
Iduronate 2-Sulfatase Deficiency Type B 58
Iduronate 2-Sulfatase Deficiency Type a 58
Deficiency of Iduronate-2-Sulphatase 12
Iduronate-2-Sulfatase Deficiency 25
Mucopolysaccharidosis Type Iib 58
Mucopolysaccharidosis Type Iia 58
Mucopolysaccharidosis Type 2b 58
Mucopolysaccharidosis Type 2a 58
Mucopolysaccharidosis Type 2 58
Mps Ii - Hunter Syndrome 12
Mucopolysaccharidosis 2 72
Hunter Syndrome Type B 58
Hunter Syndrome Type a 58
Hunter's Syndrome 12
Hunters Syndrome 54
Attenuated Mps 20
Severe Mps Ii 20
Mpsiib 58
Mpsiia 58
Mps 2 20
Mpsii 58
Mps2b 58
Mps2a 58


Orphanet epidemiological data:

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;
mucopolysaccharidosis type 2, attenuated form
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult;
mucopolysaccharidosis type 2, severe form
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: young Adult;


57 (Updated 05-Apr-2021)
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

x-linked recessive


mucopolysaccharidosis, type ii:
Inheritance x-linked recessive inheritance


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.


Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis

Summaries for Mucopolysaccharidosis, Type Ii

MedlinePlus Genetics : 43 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.At birth, individuals with MPS II do not display any features of the condition. Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). As the disorder progresses, individuals need medical assistance to keep their airway open.Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure.Children with MPS II grow steadily until about age 5, and then their growth slows and they develop short stature. Individuals with this condition have joint deformities (contractures) that significantly affect mobility. Most people with MPS II also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Dysostosis multiplex includes a generalized thickening of most long bones, particularly the ribs.There are two types of MPS II, called the severe and mild types. While both types affect many different organs and tissues as described above, people with severe MPS II also experience a decline in intellectual function and a more rapid disease progression. Individuals with the severe form begin to lose basic functional skills (developmentally regress) between the ages of 6 and 8. The life expectancy of these individuals is 10 to 20 years. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.

MalaCards based summary : Mucopolysaccharidosis, Type Ii, also known as hunter syndrome, is related to hurler-scheie syndrome and scheie syndrome, and has symptoms including seizures, diarrhea and hoarseness. An important gene associated with Mucopolysaccharidosis, Type Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Hormones and Mesna have been mentioned in the context of this disorder. Affiliated tissues include heart, eye and spinal cord, and related phenotypes are macrocephaly and muscle weakness

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

GARD : 20 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.

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 glycosaminoglycans 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) (Updated 05-Apr-2021)

KEGG : 36 Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease.

UniProtKB/Swiss-Prot : 72 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 : 73 Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder in which large... 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

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

(show top 50) (show all 218)
# Related Disease Score Top Affiliating Genes
1 hurler-scheie syndrome 31.6 SUMF1 SGSH NAGLU IDUA GALNS ARSB
2 scheie syndrome 31.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
3 mucopolysaccharidosis-plus syndrome 30.5 SUMF1 SGSH NAGLU M6PR IDUA IDS
4 mucopolysaccharidoses 30.5 SGSH NAGLU IDUA HGSNAT ARSH ARSB
5 fabry disease 30.2 M6PR GLA GBA ARSA
6 mongolian spot 30.2 NAGLU IDUA
7 inherited metabolic disorder 30.2 NAGS IDUA GLA GBA
8 morquio syndrome 30.1 GALNS ARSH
9 hurler syndrome 30.0 SUMF1 NAGLU IDUA IDS GNS GALNS
10 gaucher's disease 29.7 M6PR IDUA GLA GBA ARSH ARSA
11 mucolipidosis 29.5 SUMF1 M6PR IDUA GALNS ARSH ARSB
12 lysosomal storage disease 29.4 SUMF1 SGSH NAGLU M6PR IDUA IDS
13 mucopolysaccharidosis iv 28.6 SUMF1 SGSH NAGLU M6PR IDUA IDS
14 mucopolysaccharidosis iii 28.4 SUMF1 SGSH NAGLU M6PR IDUA IDS
15 x-linked recessive disease 10.3
16 dysostosis 10.3
17 lysosomal storage disease with skeletal involvement 10.3
18 galactosialidosis 10.3 M6PR IDUA GALNS
19 carpal tunnel syndrome 10.2
20 alacrima, achalasia, and mental retardation syndrome 10.2
21 inguinal hernia 10.2
22 charcot-marie-tooth disease, axonal, type 2v 10.2 NAGLU GBA
23 kluver-bucy syndrome 10.2 SGSH NAGLU HGSNAT
24 macroglossia 10.2
25 sleep apnea 10.2
26 spasticity 10.2
27 mucolipidosis iii alpha/beta 10.2 NAGLU M6PR ARSB ARSA
28 progressive myoclonus epilepsy 4 10.2 NAGLU GBA
29 fucosidosis 10.1 NAGLU IDUA GALNS ARSB
30 niemann-pick disease 10.1 M6PR GLA GBA
31 meier-gorlin syndrome 2 10.1 FMR1 AFF2
32 niemann-pick disease, type a 10.1 IDUA GLA GBA
33 c syndrome 10.1 M6PR HGSNAT GBA
34 gm2 gangliosidosis 10.1 GLA GBA ARSA
35 leukodystrophy 10.1 SUMF1 IDUA ARSH ARSB ARSA
36 pathologic nystagmus 10.1
37 epilepsy, idiopathic generalized 9 10.1 FMR1 AFF2
38 vertebrobasilar insufficiency 10.1
39 tracheal stenosis 10.1
40 mannosidosis, alpha b, lysosomal 10.1 SGSH IDUA
41 speech disorder 10.1 GBA FMR1 ARSH
42 otitis media 10.1
43 hydrocephalus 10.1
44 sleep disorder 10.1
45 spinal stenosis 10.1
46 mucolipidosis ii alpha/beta 10.1 NAGLU M6PR IDUA GALNS ARSH
47 lipid storage disease 10.1 GLA GBA ARSA
48 ceroid lipofuscinosis, neuronal, 3 10.0 SUMF1 SGSH NAGLU M6PR ARSA
49 stroke, ischemic 10.0
50 exanthem 10.0

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

Diseases related to Mucopolysaccharidosis, Type Ii

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Ii

Human phenotypes related to Mucopolysaccharidosis, Type Ii:

58 31 (show top 50) (show all 131)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000256
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000280
4 short stature 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0004322
5 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100490
6 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0001376
7 abnormal enzyme/coenzyme activity 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012379
8 heparan sulfate excretion in urine 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002159
9 dermatan sulfate excretion in urine 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008301
10 sleep apnea 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0010535
11 developmental regression 58 31 occasional (7.5%) Frequent (79-30%),Very rare (<4-1%),Occasional (29-5%) HP:0002376
12 macroglossia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000158
13 global developmental delay 58 31 frequent (33%) Occasional (29-5%),Very rare (<4-1%),Frequent (79-30%) HP:0001263
14 splenomegaly 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0001744
15 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
16 inguinal hernia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000023
17 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000212
18 prominent supraorbital ridges 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000336
19 wide nasal bridge 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000431
20 umbilical hernia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001537
21 thick vermilion border 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0012471
22 sensorineural hearing impairment 58 31 occasional (7.5%) Frequent (79-30%),Frequent (79-30%),Occasional (29-5%) HP:0000407
23 retinopathy 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0000488
24 dysostosis multiplex 58 31 frequent (33%) Frequent (79-30%) HP:0000943
25 full cheeks 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0000293
26 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0002788
27 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
28 conductive hearing impairment 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0000405
29 hoarse voice 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0001609
30 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0006482
31 mental deterioration 58 31 frequent (33%) Frequent (79-30%),Very rare (<4-1%),Frequent (79-30%) HP:0001268
32 chronic diarrhea 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0002028
33 wide nose 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0000445
34 progressive neurologic deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0002344
35 retinal degeneration 58 31 frequent (33%) Frequent (79-30%) HP:0000546
36 short attention span 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%) HP:0000736
37 peripheral visual field loss 58 31 occasional (7.5%) Frequent (79-30%),Occasional (29-5%),Occasional (29-5%) HP:0007994
38 irregularity of vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0004582
39 heart murmur 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0030148
40 contractures of the large joints 58 31 frequent (33%) Frequent (79-30%) HP:0005781
41 enlarged tonsils 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0030812
42 recurrent ear infections 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%),Frequent (79-30%) HP:0410018
43 sleep-wake cycle disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0006979
44 flexion contracture of digit 58 31 frequent (33%) Frequent (79-30%) HP:0030044
45 increased size of nasopharyngeal adenoids 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0040261
46 hypertension 58 31 occasional (7.5%) Very rare (<4-1%),Occasional (29-5%),Occasional (29-5%) HP:0000822
47 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0007957
48 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0001385
49 arthritis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001369
50 abnormal vertebral morphology 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003468

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:

Head And Neck Eyes:
retinal pigmentation
no corneal opacities

Head And Neck Neck:
short neck

Abdomen Spleen:

Abdomen External Features:
inguinal hernia
umbilical hernia

dysostosis multiplex

Head And Neck Ears:
recurrent otitis media
hearing loss

hoarse voice

Abdomen Gastrointestinal:
intestinal pseudo-obstruction

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

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

Skeletal Spine:

Head And Neck Mouth:
full lips

Abdomen Liver:

Head And Neck Teeth:
widely spaced teeth
delayed tooth eruption

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

Respiratory Airways:
obstructive sleep apnea

Skeletal Feet:
pes cavus

Skin Nails Hair Hair:

Skeletal Limbs:
flexion contractures

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

Skeletal Hands:
claw hand

Clinical features from OMIM®:

309900 (Updated 05-Apr-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Ii:

seizures; diarrhea; hoarseness

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Ii:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ARSA ARSB CANX FMR1 GBA GLA
2 cellular MP:0005384 10.27 ARSB FMR1 GALNS GBA GLA GNS
3 growth/size/body region MP:0005378 10.21 ARSB CANX FMR1 GBA GLA HGSNAT
4 hematopoietic system MP:0005397 10.14 ARSA ARSB GBA GNS HGSNAT IDS
5 immune system MP:0005387 10.11 ARSA CANX GBA GLA GNS HGSNAT
6 nervous system MP:0003631 10.07 ARSA ARSB CANX FMR1 GBA GLA
7 liver/biliary system MP:0005370 9.92 GBA GLA HGSNAT IDS IDUA NAGLU
8 renal/urinary system MP:0005367 9.81 ARSB GALNS GLA HGSNAT IDS IDUA
9 skeleton MP:0005390 9.65 ARSB GALNS GBA HGSNAT IDS IDUA
10 vision/eye MP:0005391 9.28 ARSB FMR1 GALNS GLA IDS IDUA

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ii

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones Phase 2, Phase 3
Mesna Approved, Investigational Phase 2 3375-50-6 598
tannic acid Approved Phase 2 1401-55-4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
Mycophenolic acid Approved Phase 2 24280-93-1 446541
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
Busulfan Approved, Investigational Phase 2 55-98-1 2478
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1 16219006
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
Tocopherol Approved, Investigational Phase 2 1406-66-2
rituximab Approved Phase 2 174722-31-7 10201696
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
26 Tocotrienol Investigational Phase 2 6829-55-6
27 Antibiotics, Antitubercular Phase 2
28 Immunosuppressive Agents Phase 2
29 Antineoplastic Agents, Immunological Phase 2
30 Immunologic Factors Phase 2
31 Cyclosporins Phase 2
32 Anti-Infective Agents Phase 2
33 Alkylating Agents Phase 2
34 Anti-Bacterial Agents Phase 2
35 Antitubercular Agents Phase 2
36 Dermatologic Agents Phase 2
37 Antifungal Agents Phase 2
38 Calcineurin Inhibitors Phase 2
39 Vaccines Phase 2
40 Gastrointestinal Agents Phase 1, Phase 2
41 Neuroprotective Agents Phase 1, Phase 2
42 Antiemetics Phase 1, Phase 2
43 Methylprednisolone Acetate Phase 1, Phase 2
44 Hormone Antagonists Phase 1, Phase 2
45 glucocorticoids Phase 1, Phase 2
46 Protective Agents Phase 1, Phase 2
47 Pharmaceutical Solutions Phase 1, Phase 2
48 Antirheumatic Agents Phase 1, Phase 2
49 Anti-Inflammatory Agents Phase 1, Phase 2
50 Alpha-lipoic Acid Phase 2

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 A Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00607386 Phase 4
2 A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
3 Phase 3, Double-blind, Randomized, Active-controlled (Part 1) and Open-labeled, Historical Placebo Controlled (Part 2) Study to Evaluate the Efficacy of Hunterase (Idursulfase-beta) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Unknown status NCT03920540 Phase 3
4 A Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter 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
5 An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Completed NCT00630747 Phase 2, Phase 3
6 To Evaluate the Safety and Efficacy of Hunterase(Idursulfase-beta) in Hunter Syndrome Patients < 6 Years of Age Receiving Idursulfase Enzyme Replacement Therapy Completed NCT01645189 Phase 3
7 A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of Weekly and Every Other Week Dosing Regimens of Iduronate-2-Sulfatase Enzyme Replacement Therapy in Patients With MPS II Completed NCT00069641 Phase 2, Phase 3
8 A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03568175 Phase 2, Phase 3 JR-141
9 An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive Impairment Active, not recruiting NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
10 An Extension Study of JR-141-301 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT04348136 Phase 2, Phase 3 JR-141
11 A Phase Ⅲ Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT04573023 Phase 3 JR-141;Idursulfase;JR-141 or Idursulfase
12 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
13 Phase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Unknown status NCT02663024 Phase 2
14 A Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive Impairment Completed NCT00920647 Phase 1, Phase 2 Idursulfase IT (1 mg);Idursulfase IT (10 mg);Idursulfase IT (30 mg)
15 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
16 Randomized, Single-blind, Active-controlled, Phase 1/2 Study to Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Completed NCT01301898 Phase 1, Phase 2 GC1111_0.5mg/kg;GC1111_1.0mg/kg;Elaprase_0.5mg/kg
17 A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
18 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141;JR-141;JR-141
19 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
20 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
21 Safety and Immunogenicity of Live-Attenuated MP-12 Rift Valley Fever Vaccine in Humans, and Genetic Characterization of Virus Isolates Recovered From the Blood of Vaccinated Volunteers: A Phase II Study Completed NCT00415051 Phase 2
22 A Study of Cyclophosphamide, Fludarabine, and Antithymocyte Globulin Followed by Matched Sibling Donor Hematopoietic Cell Transplantation in Patients With Fanconi Anemia Completed NCT00630253 Phase 1, Phase 2 Cyclophosphamide;Fludarabine;Methylprednisolone;Filgrastim;Cyclosporine;Mycophenolate Mofetil
23 A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects With MPS II (Hunter Syndrome) Recruiting NCT03566043 Phase 1, Phase 2
24 A Phase I/II Multicenter, Open-Label Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of RGX-121 in Children 5 Years of Age and Older With MPS II (Hunter Syndrome) Recruiting NCT04571970 Phase 1, Phase 2
25 A Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Subjects With Hunter Syndrome Recruiting NCT04251026 Phase 1, Phase 2 DNL310
26 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I and II Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
27 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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)
28 An Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase® in Pediatric Patients With Hunter Syndrome and Cognitive Impairment Active, not recruiting NCT01506141 Phase 1, Phase 2 Idursulfase-IT;Elaprase
29 A Phase I / 2, Multicenter, Open-label, Single-dose, Dose-ranging Study to Assess the Safety and Tolerability of SB-913, a rAAV2/6-based Gene Transfer in Subjects With Mucopolysaccharidosis II (MPS II) Active, not recruiting NCT03041324 Phase 1, Phase 2
30 An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03708965 Phase 2 JR-141
31 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
32 A Phase 1 Safety and Dose-Finding Study of a Human Insulin Receptor Monoclonal Antibody-Human Iduronate 2-Sulfatase (IDS) Fusion Protein, AGT-182 in Adult Patients With Mucopolysaccharidosis II (MPS II, Hunter Syndrome) Completed NCT02262338 Phase 1 AGT-182
33 An Open-label Multi-cohort Dose-escalation Study to Evaluate the Tolerance, Safety, and Pharmacokinetics of GNR-055 (GENERIUM JSC, Russia) in Healthy Volunteers With a Single Intravenous Administration Completed NCT04539340 Phase 1
34 Augmentation of Umbilical Cord Blood Transplantation for Inherited Metabolic Diseases With Intrathecal Administration of Human Umbilical Cord Blood-Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
35 The Long-term Safety of Hunterase (Idursulfase-beta) in Hunter Syndrome(Mucopolysaccharidosis II) Patients Unknown status NCT02044692
36 A Multi-Center Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Enrolled in the Hunter Outcome Survey (HOS) Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00882921
37 A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
38 A Study to Test the Possibility of Cross Reaction of the Antibodies Induced by the ELAPRASE (R) to GSK2788723 ELAPRASE is a Trade Mark Owned by a Third Party Completed NCT01602601 Idursulfase;GSK2788723
39 A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome Completed NCT01449240
40 Intensive Pharmacovigilance Program for Elaprase (SHP ELA-701) Completed NCT03582449
41 A Screening Study to Identify Pediatric Patients With Hunter Syndrome Who Demonstrate Evidence of Central Nervous System Involvement and Who Are Currently Receiving Treatment With Elaprase® Completed NCT00937794
42 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
43 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
44 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
45 Evaluation of Safety and Efficacy of Using Venus Freeze™ (MP)2 V2 System for Wrinkles Rhytides and Cellulite Treatment - a Pilot Study Completed NCT01234259
46 Hunter Outcome Survey: A Global, Multi-Center, Long-Term, Observational Registry of Patients With Hunter Syndrome (Mucopolysaccharidosis Type II, MPS II) Recruiting NCT03292887
47 A Prospective, Observational Study of Pediatric Patients With Neuronopathic Forms of MPS II (Hunter Syndrome) Recruiting NCT04591834
48 Biomarkers for Hunter Syndrome: An International, Multicenter, Observational, Longitudinal Protocol Recruiting NCT01330277
49 A Study of Potential Treatment-Responsive Biomarkers in Hunter Syndrome Recruiting NCT04007536
50 A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome) Active, not recruiting NCT03529786

Search NIH Clinical Center for Mucopolysaccharidosis, Type Ii

Inferred drug relations via UMLS 70 / 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
2 Mucopolysaccharidosis Ii 29

Anatomical Context for Mucopolysaccharidosis, Type Ii

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Ii:

Heart, Eye, Spinal Cord, Spleen, Retina, Tongue, Bone

Publications for Mucopolysaccharidosis, Type Ii

Articles related to Mucopolysaccharidosis, Type Ii:

(show top 50) (show all 824)
# Title Authors PMID Year
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). 6 57 54 61
9950361 1999
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. 6 57 61 54
9921913 1998
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. 61 54 57 6
8940265 1996
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 6 57 54 61
1303211 1992
Multidisciplinary management of Hunter syndrome. 54 61 25 57
19901005 2009
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). 61 6 57
9501270 1998
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. 6 57 61
7887413 1995
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. 61 57 6
7581397 1995
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. 61 57 6
8111411 1993
Hunter syndrome: gene deletions and rearrangements. 61 6 57
8318991 1993
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). 57 6 61
1906048 1991
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. 61 25 6
28543354 2017
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 6 25 61
24125893 2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. 25 6 61
24515576 2014
Mucopolysaccharidosis type II: an update on mutation spectrum. 6 25 61
17391447 2007
Incidence of the mucopolysaccharidoses in Western Australia. 25 57 61
14608657 2003
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. 6 57
9660053 1998
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. 6 57
8829661 1996
Mild and severe Hunter syndrome (MPS II) within the same sibships. 61 25 57
140775 1977
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome. 6 61 54
20104590 2010
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis. 61 54 6
17091340 2006
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. 54 6 61
17063374 2006
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers. 54 6 61
16480701 2006
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. 61 54 6
16133661 2005
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. 6 54 61
14728992 2004
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome. 54 6 61
12794697 2003
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. 6 54 61
11731225 2001
Analysis of a 43.6 kb deletion in a patient with Hunter syndrome (MPSII): identification of a fusion transcript including sequences from the gene W and the IDS gene. 54 61 57
10737977 2000
Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online. 61 54 6
10220152 1999
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. 6 61 54
10215411 1998
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. 57 54 61
9482575 1998
Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome. 54 57 61
9244428 1997
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient. 61 54 57
8807335 1996
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. 54 57 61
8528670 1995
Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28. 6 61 54
7814022 1995
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. 57 61 54
8265633 1993
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. 6 61 54
1355630 1992
Detection of point mutations and a gross deletion in six Hunter syndrome patients. 61 6 54
1639384 1992
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene. 57 61 54
1303177 1992
Structural gene aberrations in mucopolysaccharidosis II (Hunter). 61 54 57
1352274 1992
The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. 57 61 54
1733863 1992
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl. 61 54 57
1678247 1991
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. 54 57 61
1901826 1991
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. 61 6
30639582 2019
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II. 61 6
27883178 2017
Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome. 61 6
28077157 2017
Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II. 61 6
27351199 2017
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. 61 6
27246110 2016
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome. 6 61
26762690 2016
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II. 61 57
25541100 2015

Variations for Mucopolysaccharidosis, Type Ii

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Ii:

6 (show top 50) (show all 225)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IDS NM_000202.8(IDS):c.411del (p.His138fs) Deletion Pathogenic 221216 rs864622776 GRCh37: X:148584849-148584849
GRCh38: X:149503319-149503319
2 LOC106050102 , IDS NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) SNV Pathogenic 221201 rs193302906 GRCh37: X:148568603-148568603
GRCh38: X:149487072-149487072
3 IDS NM_000202.8(IDS):c.1181-1G>A SNV Pathogenic 221218 rs864622777 GRCh37: X:148564750-148564750
GRCh38: X:149483219-149483219
4 LOC106050102 , IDS NM_000202.8(IDS):c.613G>C (p.Ala205Pro) SNV Pathogenic 221223 rs864622779 GRCh37: X:148579733-148579733
GRCh38: X:149498202-149498202
5 LOC106050102 , IDS NM_000202.8(IDS):c.708+1G>A SNV Pathogenic 221221 rs864622778 GRCh37: X:148579637-148579637
GRCh38: X:149498106-149498106
6 LOC106050102 , IDS NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) SNV Pathogenic 221208 rs193302908 GRCh37: X:148582562-148582562
GRCh38: X:149501031-149501031
7 LOC106050102 , IDS NM_000202.8(IDS):c.820G>T (p.Glu274Ter) SNV Pathogenic 221214 rs193302907 GRCh37: X:148577936-148577936
GRCh38: X:149496405-149496405
8 LOC106050102 , IDS NM_000202.8(IDS):c.935G>A (p.Gly312Asp) SNV Pathogenic 221213 rs193302912 GRCh37: X:148571916-148571916
GRCh38: X:149490385-149490385
9 LOC106050102 , IDS NM_000202.8(IDS):c.906_907CT[1] (p.Ser303fs) Microsatellite Pathogenic 221217 rs193302913 GRCh37: X:148571942-148571943
GRCh38: X:149490411-149490412
10 IDS NM_000202.8(IDS):c.241-5A>T SNV Pathogenic 221219 rs113993952 GRCh37: X:148585024-148585024
GRCh38: X:149503494-149503494
11 IDS NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) SNV Pathogenic 221204 rs864622773 GRCh37: X:148564497-148564497
GRCh38: X:149482966-149482966
12 IDS NM_000202.8(IDS):c.359C>A (p.Pro120His) SNV Pathogenic 221206 rs193302911 GRCh37: X:148584901-148584901
GRCh38: X:149503371-149503371
13 LOC106050102 , IDS NM_000202.8(IDS):c.683C>A (p.Pro228Gln) SNV Pathogenic 221211 rs113993945 GRCh37: X:148579663-148579663
GRCh38: X:149498132-149498132
14 LOC106050102 , IDS NM_000202.8(IDS):c.469C>T (p.Pro157Ser) SNV Pathogenic 221209 rs864622774 GRCh37: X:148582518-148582518
GRCh38: X:149500987-149500987
15 LOC106050102 , IDS NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) SNV Pathogenic 221200 rs864622771 GRCh37: X:148568620-148568620
GRCh38: X:149487089-149487089
16 IDS NM_000202.8(IDS):c.22_37del (p.Arg8fs) Deletion Pathogenic 221215 rs864622775 GRCh37: X:148586631-148586646
GRCh38: X:149505101-149505116
17 IDS NM_000202.8(IDS):c.191T>A (p.Ile64Asn) SNV Pathogenic 221222 rs781997631 GRCh37: X:148585736-148585736
GRCh38: X:149504206-149504206
18 LOC106050102 , IDS NM_000202.8(IDS):c.508-1G>A SNV Pathogenic 221220 rs113993947 GRCh37: X:148579839-148579839
GRCh38: X:149498308-149498308
19 IDS NM_000202.8(IDS):c.401G>A (p.Gly134Glu) SNV Pathogenic 221207 rs193302910 GRCh37: X:148584859-148584859
GRCh38: X:149503329-149503329
20 LOC106050102 , IDS NM_000202.8(IDS):c.754_767del (p.Pro251_Asp252insTer) Deletion Pathogenic 221974 rs869025305 GRCh37: X:148577989-148578002
GRCh38: X:149496458-149496471
21 IDS NM_000202.8(IDS):c.1403G>T (p.Arg468Leu) SNV Pathogenic 10500 rs113993946 GRCh37: X:148564527-148564527
GRCh38: X:149482996-149482996
22 IDS NM_000202.8(IDS):c.1505G>C (p.Trp502Ser) SNV Pathogenic 10488 rs199422228 GRCh37: X:148564425-148564425
GRCh38: X:149482894-149482894
23 LOC106050102 , IDS NM_000202.8(IDS):c.479C>G (p.Pro160Arg) SNV Pathogenic 10489 rs104894856 GRCh37: X:148582508-148582508
GRCh38: X:149500977-149500977
24 overlap with 2 genes NC_000023.11:g.(?_149478764)_(149505354_?)del Deletion Pathogenic 10492 GRCh37:
GRCh38: X:149478764-149505354
25 IDS NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) SNV Pathogenic 10493 rs199422229 GRCh37: X:148564666-148564666
GRCh38: X:149483135-149483135
26 IDS NM_000202.8(IDS):c.404A>G (p.Lys135Arg) SNV Pathogenic 10494 rs104894861 GRCh37: X:148584856-148584856
GRCh38: X:149503326-149503326
27 LOC106050102 , IDS NM_000202.8(IDS):c.509_510del (p.Thr170fs) Deletion Pathogenic 10496 rs483352904 GRCh37: X:148579836-148579837
GRCh38: X:149498305-149498306
28 IDS NM_000202.8(IDS):c.349_351del (p.Ser117del) Deletion Pathogenic 10501 rs483352905 GRCh37: X:148584909-148584911
GRCh38: X:149503379-149503381
29 IDS NM_000202.8(IDS):c.1466G>C (p.Gly489Ala) SNV Pathogenic 10502 rs104894863 GRCh37: X:148564464-148564464
GRCh38: X:149482933-149482933
30 LOC106050102 , IDS NM_000202.8(IDS):c.884A>T (p.Lys295Ile) SNV Pathogenic 221212 rs113993953 GRCh37: X:148571967-148571967
GRCh38: X:149490436-149490436
31 LOC106050102 , IDS NM_000202.8(IDS):c.508-1G>C SNV Pathogenic 221977 rs113993947 GRCh37: X:148579839-148579839
GRCh38: X:149498308-149498308
32 LOC106050102 , IDS NM_000202.8(IDS):c.1132_1133del (p.Phe378fs) Deletion Pathogenic 221975 rs869025306 GRCh37: X:148568503-148568504
GRCh38: X:149486972-149486973
33 LOC106050102 , IDS NM_000202.8(IDS):c.1006+1G>T SNV Pathogenic 221978 rs869025308 GRCh37: X:148571844-148571844
GRCh38: X:149490313-149490313
34 LOC106050102 , IDS NM_000202.8(IDS):c.463_464delinsCCGTATAGCTGG (p.Phe155fs) Indel Pathogenic 221973 rs869025304 GRCh37: X:148582523-148582524
GRCh38: X:149500992-149500993
35 IDS NM_000202.7(IDS):c.-217_103del320 Deletion Pathogenic 221979 rs1557340558 GRCh37: X:148586565-148586884
GRCh38: X:149505035-149505354
36 IDS NM_000202.8(IDS):c.1463del (p.Met488fs) Deletion Pathogenic 221976 rs869025307 GRCh37: X:148564467-148564467
GRCh38: X:149482936-149482936
37 LOC106050102 , IDS NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) SNV Pathogenic 437444 rs1557338131 GRCh37: X:148568537-148568537
GRCh38: X:149487006-149487006
38 IDS NC_000023.10:g.(?_148564257)_(148586687_?)del Deletion Pathogenic 457352 GRCh37: X:148564257-148586687
39 IDS NC_000023.10:g.(?_148579618)_(148586687_?)del Deletion Pathogenic 645359 GRCh37: X:148579618-148586687
40 IDS NC_000023.10:g.(?_148578704)_(148586687_?)del Deletion Pathogenic 649624 GRCh37: X:148578704-148586687
41 LOC106050102 , IDS NM_000202.8(IDS):c.984del (p.Ile329fs) Deletion Pathogenic 654393 rs1602734459 GRCh37: X:148571867-148571867
GRCh38: X:149490336-149490336
42 IDS NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) SNV Pathogenic 284860 rs886044835 GRCh37: X:148564665-148564665
GRCh38: X:149483134-149483134
43 IDS NC_000023.10:g.(?_148564267)_(148586894_?)del Deletion Pathogenic 660140 GRCh37: X:148564267-148586894
44 IDS NM_000202.8(IDS):c.88_89insAT (p.Ala30fs) Insertion Pathogenic 661523 rs1602750400 GRCh37: X:148586579-148586580
GRCh38: X:149505049-149505050
45 IDS NM_000202.8(IDS):c.418+1G>C SNV Pathogenic 664872 rs1602748255 GRCh37: X:148584841-148584841
GRCh38: X:149503311-149503311
46 IDS NM_000202.8(IDS):c.257C>T (p.Pro86Leu) SNV Pathogenic 527322 rs1557340280 GRCh37: X:148585003-148585003
GRCh38: X:149503473-149503473
47 LOC106050102 , IDS NM_000202.8(IDS):c.419-1G>A SNV Pathogenic 527324 rs1557339927 GRCh37: X:148582569-148582569
GRCh38: X:149501038-149501038
48 LOC106050102 , IDS NM_000202.8(IDS):c.589_592del (p.Pro197fs) Deletion Pathogenic 638080 rs1602742854 GRCh37: X:148579754-148579757
GRCh38: X:149498223-149498226
49 LOC106050102 , IDS NM_000202.8(IDS):c.1106C>A (p.Ser369Ter) SNV Pathogenic 569306 rs1557338127 GRCh37: X:148568530-148568530
GRCh38: X:149486999-149486999
50 LOC106050102 , IDS NM_000202.8(IDS):c.702C>A (p.Tyr234Ter) SNV Pathogenic 570827 rs1569560489 GRCh37: X:148579644-148579644
GRCh38: X:149498113-149498113

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

72 (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 rs156956052
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 rs155734028
9 IDS p.Pro86Gln VAR_007321
10 IDS p.Pro86Arg VAR_007322
11 IDS p.Ser87Asn VAR_007323
12 IDS p.Arg88Cys VAR_007324 rs398123249
13 IDS p.Arg88His VAR_007325
14 IDS p.Arg88Leu VAR_007326
15 IDS p.Arg88Pro VAR_007327
16 IDS p.Leu92Pro VAR_007328
17 IDS p.Gly94Asp VAR_007329
18 IDS p.Leu102Arg VAR_007330
19 IDS p.Tyr108Cys VAR_007331
20 IDS p.Asn115Tyr VAR_007332
21 IDS p.Thr118Ile VAR_007333
22 IDS p.Pro120His VAR_007334 rs193302911
23 IDS p.Pro120Arg VAR_007335
24 IDS p.Glu125Val VAR_007336
25 IDS p.Ser132Trp VAR_007337
26 IDS p.Gly134Arg VAR_007338
27 IDS p.Lys135Asn VAR_007339
28 IDS p.Lys135Arg VAR_007340 rs104894861
29 IDS p.Ser143Phe VAR_007341
30 IDS p.His159Pro VAR_007342
31 IDS p.Pro160Arg VAR_007344 rs104894856
32 IDS p.Cys184Phe VAR_007345
33 IDS p.Cys184Trp VAR_007346
34 IDS p.Leu196Ser VAR_007347 rs398123250
35 IDS p.Asp198Gly VAR_007348
36 IDS p.Leu221Pro VAR_007349
37 IDS p.Gly224Glu VAR_007350
38 IDS p.Tyr225Asp VAR_007351
39 IDS p.Lys227Gln VAR_007352
40 IDS p.Pro228Leu VAR_007353
41 IDS p.His229Tyr VAR_007354
42 IDS p.Asp252Asn VAR_007355 rs146458524
43 IDS p.Pro266His VAR_007356
44 IDS p.Pro266Arg VAR_007357
45 IDS p.Asp269Val VAR_007358 rs108530800
46 IDS p.Gln293His VAR_007359
47 IDS p.Ser333Leu VAR_007360 rs104894853
48 IDS p.Trp337Arg VAR_007361
49 IDS p.Gly340Asp VAR_007362
50 IDS p.Trp345Cys VAR_007363

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:

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

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

# Super pathways Score Top Affiliating Genes
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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 extracellular exosome GO:0070062 9.96 SGSH NAGLU IDUA GNS GLA GBA
2 endoplasmic reticulum lumen GO:0005788 9.72 SUMF1 CANX ARSH ARSB ARSA
3 lysosomal lumen GO:0043202 9.65 SGSH NAGLU IDUA IDS GNS GLA
4 azurophil granule lumen GO:0035578 9.55 GNS GLA GALNS ARSB ARSA
5 lysosome GO:0005764 9.4 SGSH NAGLU M6PR IDUA IDS HGSNAT

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.85 HGSNAT GNS GLA GALNS ARSB ARSA
2 metabolic process GO:0008152 9.76 NAGLU IDUA GLA GBA
3 central nervous system development GO:0007417 9.7 GBA ARSB ARSA
4 response to estrogen GO:0043627 9.65 GBA ARSB ARSA
5 lysosome organization GO:0007040 9.58 NAGLU GBA ARSB
6 glycosaminoglycan metabolic process GO:0030203 9.51 SGSH GNS
7 lysosomal transport GO:0007041 9.5 M6PR HGSNAT ARSB
8 keratan sulfate catabolic process GO:0042340 9.49 GNS GALNS
9 response to methylmercury GO:0051597 9.43 ARSB ARSA
10 chondroitin sulfate catabolic process GO:0030207 9.43 IDUA IDS ARSB
11 response to pH GO:0009268 9.33 GBA ARSB ARSA
12 glycosphingolipid metabolic process GO:0006687 9.26 SUMF1 GLA GBA ARSA
13 glycosaminoglycan catabolic process GO:0006027 9.1 SGSH NAGLU IDUA IDS HGSNAT GNS

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 10 SGSH NAGLU IDUA IDS GNS GLA
2 catalytic activity GO:0003824 9.76 SGSH IDS GNS GLA GALNS ARSH
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.62 NAGLU IDUA GLA GBA
4 G-quadruplex RNA binding GO:0002151 9.43 FMR1 AFF2
5 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.4 SGSH GNS
6 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 GALNS ARSB
7 arylsulfatase activity GO:0004065 9.26 GALNS ARSH ARSB ARSA
8 sulfuric ester hydrolase activity GO:0008484 9.17 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis, Type Ii

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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