MPS2
MCID: MCP050
MIFTS: 74

Mucopolysaccharidosis, Type Ii (MPS2)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Mucopolysaccharidosis, Type Ii

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ii:

Name: Mucopolysaccharidosis, Type Ii 57 36 38 75 31
Hunter Syndrome 57 11 24 19 42 58 75 73 33
Iduronate 2-Sulfatase Deficiency 57 19 42 58 75 73 33
Mucopolysaccharidosis Ii 57 11 12 43 14 71
Mucopolysaccharidosis Type Ii 24 19 42 58 73
Mps Ii 57 24 19 42 73
Sulfoiduronate Sulfatase Deficiency 57 73 71
Mucopolysaccharidosis, Mps-Ii 11 28 5
Mps2 57 58 73
Mucopolysaccharidosis Type 2, Severe Form 58 5
Mucopolysaccharidosis Type 2 58 33
Sids Deficiency 57 73
Ids Deficiency 57 73
I2s Deficiency 19 42
Mucopolysaccharidosis Type Ii, Attenuated Form 58
Mucopolysaccharidosis Type 2, Attenuated Form 58
Mucopolysaccharidosis Type Ii, Severe Form 58
Iduronate 2-Sulfatase Deficiency Type B 58
Iduronate 2-Sulfatase Deficiency Type a 58
Sulphoiduronidate Sulphatase Deficiency 33
Sulpho-Iduronate Sulphatase Deficiency 33
Sulfoiduronidate Sulfatase Deficiency 33
Deficiency of Iduronate-2-Sulphatase 11
Sulfo-Iduronate Sulfatase Deficiency 33
Iduronate 2-Sulphatase Deficiency 33
Iduronate-2-Sulfatase Deficiency 24
Mps2 - [mucopolysaccharidosis 2] 33
Iduronate Sulphatase Deficiency 33
Mucopolysaccharidosis Type Iib 58
Mucopolysaccharidosis Type Iia 58
Iduronate Sulfatase Deficiency 33
Mucopolysaccharidosis Type 2b 58
Mucopolysaccharidosis Type 2a 58
Mps Ii - Hunter Syndrome 11
Mucopolysaccharidosis 2 73
Hunter Syndrome Type B 58
Hunter Syndrome Type a 58
Hunter's Syndrome 11
Hunters Syndrome 53
Attenuated Mps 19
Severe Mps Ii 19
Mpsiib 58
Mpsiia 58
Mps 2 19
Mpsii 58
Mps2b 58
Mps2a 58

Characteristics:


Inheritance:

Mucopolysaccharidosis, Type Ii: X-linked recessive 57
Mucopolysaccharidosis Type 2: X-linked recessive 58
Mucopolysaccharidosis Type 2, Severe Form: X-linked recessive 58
Mucopolysaccharidosis Type 2, Attenuated Form: X-linked recessive 58

Prevelance:

Mucopolysaccharidosis Type 2: 1-9/1000000 (Europe, Sweden, Czech Republic, Ireland, Australia, Canada, Europe, Germany, Netherlands, Norway, Denmark, Worldwide, Poland, Japan, Switzerland, Korea, Republic of, Tunisia, United States, Brazil) 1-9/100000 (Denmark, Taiwan, Province of China, Estonia, Portugal, Italy, Sweden, Norway) <1/1000000 (United States) 58
Mucopolysaccharidosis Type 2, Severe Form: 1-9/1000000 (Europe) 58

Age Of Onset:

Mucopolysaccharidosis Type 2: Childhood 58
Mucopolysaccharidosis Type 2, Severe Form: Childhood 58
Mucopolysaccharidosis Type 2, Attenuated Form: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


GeneReviews:

24
Penetrance Penetrance of mps ii in males is complete; however, it is anticipated that if newborn screening becomes available for mps ii, much milder presentations would be documented.

Classifications:

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


External Ids:

Disease Ontology 11 DOID:12799
OMIM® 57 309900
OMIM Phenotypic Series 57 PS607014
MeSH 43 D016532
NCIt 49 C61260
SNOMED-CT 68 190936000
ICD10 31 E76.1
MESH via Orphanet 44 D016532
ICD10 via Orphanet 32 E76.1
UMLS via Orphanet 72 C0026705 C2718304
MedGen 40 C0026705
ICD11 33 1056274204
UMLS 71 C0026705 C2718304

Summaries for Mucopolysaccharidosis, Type Ii

MedlinePlus Genetics: 42 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 mucopolysaccharidosis with skin involvement and mucopolysaccharidoses, and has symptoms including diarrhea, seizures and hoarseness. An important gene associated with Mucopolysaccharidosis, Type Ii is IDS (Iduronate 2-Sulfatase), and among its related pathways/superpathways are Metabolism and Disease. The drugs Rituximab and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, skin and heart, and related phenotypes are macrocephaly and muscle weakness

Orphanet 58 Mucopolysaccharidosis type 2, severe form: Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

Mucopolysaccharidosis type 2, attenuated form: Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

Mucopolysaccharidosis type 2: A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.

GARD: 19 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 genetic changes 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. Individuals with the less severe type typically live into adulthood and intelligence is not affected.

UniProtKB/Swiss-Prot: 73 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 intellectual disability 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 intellectual disability.

OMIM®: 57 Mucopolysaccharidosis II (MPS2) 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 08-Dec-2022)

Disease Ontology: 11 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.

Wikipedia: 75 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, Type X 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 275)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis with skin involvement 31.5 LOC106050102 IDS
2 mucopolysaccharidoses 31.0 IDUA IDS GALNS ARSB
3 inguinal hernia 30.7 NAGLU IDUA IDS ARSB
4 umbilical hernia 30.4 IDUA GALNS ARSB
5 mucopolysaccharidosis-plus syndrome 30.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
6 fabry disease 30.2 M6PR GLA GBA1 ARSA
7 gaucher disease, type i 30.2 IDUA GLA GBA1
8 mongolian spot 30.2 IDUA GLB1
9 hurler-scheie syndrome 30.1 SUMF1 SGSH NAGLU IDUA IDS GALNS
10 c syndrome 30.0 IGF2R HGSNAT GBA1
11 lysosomal storage disease 29.9 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
12 multiple sulfatase deficiency 29.9 SUMF1 IDS GNS GALNS ARSH ARSB
13 hurler syndrome 29.9 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
14 gaucher's disease 29.6 NAGLU M6PR IGF2R IDUA IDS GLA
15 scheie syndrome 29.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
16 mucolipidosis 29.3 NAGLU M6PR IGF2R IDUA GLB1 GBA1
17 mucopolysaccharidosis iv 29.1 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
18 mucopolysaccharidosis, type ivb 29.0 SUMF1 SGSH NAGLU IGF2R IDUA IDS
19 mucopolysaccharidosis, type iiib 29.0 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
20 gm1 gangliosidosis 28.9 SUMF1 SGSH NAGLU IGF2R IDUA IDS
21 mucopolysaccharidosis, type iiia 28.9 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
22 mucopolysaccharidosis, type iva 28.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
23 mucopolysaccharidosis iii 28.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
24 mucopolysaccharidosis, type vi 28.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
25 dysostosis 10.4
26 carpal tunnel syndrome 10.3
27 lysosomal storage disease with skeletal involvement 10.3
28 gaucher disease, type iii 10.3 GBA1 ARSA
29 mononeuropathy of the median nerve, mild 10.3
30 lysosomal disease 10.3
31 kluver-bucy syndrome 10.3 SGSH NAGLU HGSNAT
32 congenital disorder of glycosylation, type ib 10.2 IGF2R GLA
33 gm1-gangliosidosis, type ii 10.2 IDS GLB1 GALNS
34 aortic valve disease 2 10.2
35 inherited metabolic disorder 10.2
36 kanzaki disease 10.2 SUMF1 GLA GALNS
37 progressive myoclonus epilepsy 4 10.2 IGF2R GBA1
38 charcot-marie-tooth disease, axonal, type 2v 10.2 NAGLU IGF2R GBA1
39 lysosomal and lipase deficiency 10.2 M6PR IGF2R IDUA
40 lysosomal acid lipase deficiency 10.2 M6PR IGF2R IDUA
41 alpha-1-antitrypsin deficiency 10.2
42 canavan disease 10.2 SUMF1 SGSH NAGLU ARSA
43 aspartylglucosaminuria 10.2 M6PR IGF2R IDUA
44 gaucher disease, type iiic 10.2 M6PR GBA1 ARSA
45 gaucher disease, perinatal lethal 10.2 GLA GBA1
46 gingival hypertrophy 10.2 IDUA GLB1
47 cerebral lipidosis 10.2 M6PR IGF2R GLB1
48 glycogen storage disease ii 10.2 M6PR IGF2R IDUA
49 angiokeratoma 10.2 IGF2R GLA
50 mucolipidosis ii alpha/beta 10.2 M6PR IGF2R IDUA ARSH

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 30 (show top 50) (show all 134)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0000256
2 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
3 coarse facial features 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0000280
4 short stature 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0004322
5 camptodactyly of finger 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0100490
6 limitation of joint mobility 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0001376
7 abnormal enzyme/coenzyme activity 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0012379
8 heparan sulfate excretion in urine 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0002159
9 dermatan sulfate excretion in urine 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0008301
10 sleep apnea 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0010535
11 developmental regression 58 30 Occasional (7.5%) Frequent (79-30%)
Very rare (<4-1%)
Occasional (29-5%)
HP:0002376
12 macroglossia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000158
13 global developmental delay 58 30 Frequent (33%) Occasional (29-5%)
Very rare (<4-1%)
Frequent (79-30%)
HP:0001263
14 splenomegaly 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0001744
15 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
16 inguinal hernia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000023
17 gingival overgrowth 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000212
18 prominent supraorbital ridges 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000336
19 wide nasal bridge 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000431
20 umbilical hernia 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001537
21 thick vermilion border 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0012471
22 sensorineural hearing impairment 58 30 Occasional (7.5%) Frequent (79-30%)
Frequent (79-30%)
Occasional (29-5%)
HP:0000407
23 retinopathy 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000488
24 dysostosis multiplex 58 30 Very rare (1%) Frequent (79-30%)
HP:0000943
25 full cheeks 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000293
26 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0002788
27 decreased nerve conduction velocity 58 30 Frequent (33%) Frequent (79-30%)
HP:0000762
28 conductive hearing impairment 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000405
29 hoarse voice 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0001609
30 abnormality of dental morphology 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0006482
31 mental deterioration 58 30 Frequent (33%) Frequent (79-30%)
Very rare (<4-1%)
Frequent (79-30%)
HP:0001268
32 chronic diarrhea 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0002028
33 wide nose 58 30 Frequent (33%) Occasional (29-5%)
Frequent (79-30%)
Frequent (79-30%)
HP:0000445
34 progressive neurologic deterioration 58 30 Frequent (33%) Frequent (79-30%)
HP:0002344
35 retinal degeneration 58 30 Frequent (33%) Frequent (79-30%)
HP:0000546
36 short attention span 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
HP:0000736
37 peripheral visual field loss 58 30 Occasional (7.5%) Frequent (79-30%)
Occasional (29-5%)
Occasional (29-5%)
HP:0007994
38 irregularity of vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0004582
39 heart murmur 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0030148
40 contractures of the large joints 58 30 Frequent (33%) Frequent (79-30%)
HP:0005781
41 enlarged tonsils 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0030812
42 recurrent ear infections 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
Frequent (79-30%)
HP:0410018
43 sleep-wake cycle disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0006979
44 flexion contracture of digit 58 30 Frequent (33%) Frequent (79-30%)
HP:0030044
45 increased size of nasopharyngeal adenoids 58 30 Frequent (33%) Frequent (79-30%)
Frequent (79-30%)
HP:0040261
46 seizure 58 30 Occasional (7.5%) Very rare (<4-1%)
Very rare (<4-1%)
Occasional (29-5%)
HP:0001250
47 hypertension 58 30 Occasional (7.5%) Very rare (<4-1%)
Occasional (29-5%)
Occasional (29-5%)
HP:0000822
48 corneal opacity 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
Occasional (29-5%)
HP:0007957
49 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
Occasional (29-5%)
HP:0001385
50 arthritis 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
HP:0001369

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Head:
macrocephaly
scaphocephaly

Skeletal Spine:
kyphosis

Head And Neck Neck:
short neck

Abdomen Spleen:
splenomegaly

Abdomen External Features:
inguinal hernia
umbilical hernia

Skeletal:
dysostosis multiplex

Head And Neck Ears:
recurrent otitis media
hearing loss

Voice:
hoarse voice

Abdomen Gastrointestinal:
diarrhea
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

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

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

Head And Neck Mouth:
macroglossia
full lips

Abdomen Liver:
hepatomegaly

Head And Neck Teeth:
widely spaced teeth
delayed tooth eruption

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

Respiratory Airways:
asthma
obstructive sleep apnea
tracheobronchomalacia

Skeletal Feet:
pes cavus

Skin Nails Hair Hair:
hypertrichosis

Skeletal Limbs:
flexion contractures

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

Skeletal Hands:
claw hand

Clinical features from OMIM®:

309900 (Updated 08-Dec-2022)

UMLS symptoms related to Mucopolysaccharidosis, Type Ii:


diarrhea; seizures; hoarseness

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

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.64 ARSA
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.64 ARSA
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.64 ARSA
4 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.64 IDS IGF2R
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.64 IGF2R
6 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.64 TFRC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.64 ARSA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.64 ARSA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.64 IDS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.64 ARSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.64 ARSA
12 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.64 IDS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.64 IGF2R
14 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.64 IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.64 IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.64 IGF2R
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.64 ARSA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.64 IDS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.64 IDS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.64 TFRC

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Ii:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.43 AFF2 ARSA ARSB GBA1 GLA GLB1
2 cellular MP:0005384 10.34 ARSA ARSB GALNS GBA1 GLA GLB1
3 homeostasis/metabolism MP:0005376 10.32 ARSA ARSB GALNS GBA1 GLA GLB1
4 renal/urinary system MP:0005367 10.29 ARSB GALNS GLA GLB1 HGSNAT IDS
5 growth/size/body region MP:0005378 10.29 AFF2 ARSB GBA1 GLA GLB1 HGSNAT
6 liver/biliary system MP:0005370 10.28 GBA1 GLA GLB1 HGSNAT IDS IDUA
7 behavior/neurological MP:0005386 10.27 AFF2 ARSA ARSB GBA1 GLA GLB1
8 cardiovascular system MP:0005385 10.14 ARSB GBA1 GLA HGSNAT IDUA IGF2R
9 immune system MP:0005387 10.13 ARSA GBA1 GLA GLB1 GNS HGSNAT
10 limbs/digits/tail MP:0005371 10.07 ARSB HGSNAT IDS IDUA IGF2R SGSH
11 skeleton MP:0005390 10.07 ARSB GALNS GBA1 GLB1 HGSNAT IDS
12 craniofacial MP:0005382 10.06 ARSB IDS IDUA IGF2R NAGLU SGSH
13 hearing/vestibular/ear MP:0005377 9.97 ARSA ARSB IDS IDUA NAGLU TFRC
14 vision/eye MP:0005391 9.81 ARSA ARSB GALNS GLA IDS IDUA
15 hematopoietic system MP:0005397 9.8 ARSA ARSB GBA1 GLB1 GNS HGSNAT
16 mortality/aging MP:0010768 9.47 AFF2 GBA1 GLA GLB1 GNS HGSNAT

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ii

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rituximab Approved Phase 4 174722-31-7
2
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Immunoglobulins Phase 4
6 Antibodies Phase 4
7 Antirheumatic Agents Phase 4
8 Antineoplastic Agents, Immunological Phase 4
9 Immunosuppressive Agents Phase 4
10 Dermatologic Agents Phase 4
11 Immunologic Factors Phase 4
12 Folic Acid Antagonists Phase 4
13 Immunoglobulins, Intravenous Phase 4
14 Folate Phase 4
15 Vitamin B9 Phase 4
16 Vitamin B Complex Phase 4
17 Antimetabolites Phase 4
18 Antibodies, Blocking Phase 4
19 gamma-Globulins Phase 4
20 Rho(D) Immune Globulin Phase 4
21 Somatomedin B Phase 2, Phase 3
22 Hormones Phase 2, Phase 3
23
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
24
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
25
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
26
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
27
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
28
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
29
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
30
Busulfan Approved, Investigational Phase 2 55-98-1 2478
31
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
32
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
33
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
34
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
35
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
36
Tocopherol Approved, Investigational Phase 2 1406-66-2
37
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1
38
Zinc cation Approved, Experimental, Investigational Phase 1, Phase 2 7440-66-6, 23713-49-7 32051
39
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 2 59-02-9, 10191-41-0 2116 14985
40
Lipoic acid Approved, Investigational, Nutraceutical Phase 2 1200-22-2 864 6112
41
Tocotrienol Investigational Phase 2 6829-55-6 9929901
42 Alkylating Agents Phase 2
43 Anti-Bacterial Agents Phase 2
44 Antineoplastic Agents, Alkylating Phase 2
45 Anti-Infective Agents Phase 2
46 Calcineurin Inhibitors Phase 2
47 Cyclosporins Phase 2
48 Antifungal Agents Phase 2
49 Antitubercular Agents Phase 2
50 Antibiotics, Antitubercular Phase 2

Interventional clinical trials:

(show top 50) (show all 62)
# 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 Prospective, Multicenter, Single-arm, Open-label, Interventional Phase IV Study to Evaluate the Safety and Efficacy of Idursulfase (r-DNA Origin) (Elaprase™) in Indian Pediatric and Adult Population With Hunter Syndrome (Mucopolysaccharidosis II) Recruiting NCT05058391 Phase 4
3 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
4 An Open-label, Multicenter, Phase 4 Study to Assess the Effects of a Prophylactic Immune Tolerizing Regimen in MPS II Treatment-Naïve Patients Planned to Receive ELAPRASE Who Are at Risk of Developing Persistent Neutralizing Antibodies Not yet recruiting NCT05494593 Phase 4 ELAPRASE;Rituximab;Methotrexate;Intravenous Immunoglobulin (IVIG)
5 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
6 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
7 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
8 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
9 A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03568175 Phase 2, Phase 3 JR-141
10 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
11 A Phase 1/2/3 Multicenter, Open-Label Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects With MPS II (Hunter Syndrome) Recruiting NCT03566043 Phase 2, Phase 3
12 A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II Recruiting NCT04573023 Phase 3 JR-141;Idursulfase;JR-141 or Idursulfase
13 Multicenter, Open-Label, Multi-cohort Study to Evaluate Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Drug Product GNR 055 (JSC "GENERIUM", Russia) in Patients With Mucopolysaccharidosis Type II Recruiting NCT05208281 Phase 2, Phase 3 GNR-055 1.0-2.0-3.0 mg/kg;GNR-055 2.0 mg/kg;GNR-055 3.0 mg/kg
14 A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Recruiting NCT05371613 Phase 2, Phase 3 DNL310;Idursulfase
15 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
16 An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II Active, not recruiting NCT04348136 Phase 2, Phase 3 JR-141
17 An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male Subjects Not yet recruiting NCT05594992 Phase 3 JR-141
18 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)
19 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
20 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
21 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)
22 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
23 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
24 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141
25 A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
26 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
27 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
28 A Phase 1/2, Multicenter, Open-Label Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Participants With Hunter Syndrome Recruiting NCT04251026 Phase 1, Phase 2 DNL310
29 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)
30 Phase 1/2 Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II, and VI Recruiting NCT03153319 Phase 1, Phase 2 Adalimumab Injection [Humira];Saline Solution for Injection
31 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
32 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
33 An Extension Study of JR-141-BR21 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03708965 Phase 2 JR-141
34 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) Terminated NCT03041324 Phase 1, Phase 2
35 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
36 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
37 Phase 1, Open-Label, Ascending Dose Study to Evaluate the Safety, Tolerability, PK and PD of Intracerebroventricular GC1123 in Patients With MPS Ⅱ Who Have Central Nervous System Involvement and Are Receiving Treatment With Intravenous Drug Recruiting NCT05422482 Phase 1
38 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
39 A Phase 1 Open-Label Dose Escalation Study to Evaluate the Safety and Efficacy of HMI-203 in ERT-Treated Adults With Mucopolysaccharidosis Type II (MPS II) (juMPStart Trial) Recruiting NCT05238324 Phase 1
40 In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). Recruiting NCT04532047 Phase 1 Aldurazyme (laronidase)
41 The Long-term Safety of Hunterase (Idursulfase-beta) in Hunter Syndrome(Mucopolysaccharidosis II) Patients Unknown status NCT02044692
42 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
43 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
44 A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome) Completed NCT03529786
45 A Cerebrospinal Fluid Collection Study in Pediatric and Adult Patients With Hunter Syndrome Completed NCT01449240
46 A Prospective, Longitudinal, Observational Study to Evaluate Neurodevelopmental Status in Pediatric Patients With Hunter Syndrome (MPS II) Completed NCT01822184
47 Intensive Pharmacovigilance Program for Elaprase (SHP ELA-701) Completed NCT03582449
48 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
49 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
50 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

Search NIH Clinical Center for Mucopolysaccharidosis, Type Ii

Inferred drug relations via UMLS 71 / NDF-RT 50 :


idursulfase

Cell-based therapeutics:


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

Cochrane evidence based reviews: mucopolysaccharidosis ii

Genetic Tests for Mucopolysaccharidosis, Type Ii

Genetic tests related to Mucopolysaccharidosis, Type Ii:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis, Mps-Ii 28 IDS

Anatomical Context for Mucopolysaccharidosis, Type Ii

Organs/tissues related to Mucopolysaccharidosis, Type Ii:

MalaCards : Spinal Cord, Skin, Heart, Eye, Bone, Spleen, Liver
ODiseA: Respiratory System-Trachea, Respiratory System

Publications for Mucopolysaccharidosis, Type Ii

Articles related to Mucopolysaccharidosis, Type Ii:

(show top 50) (show all 1526)
# Title Authors PMID Year
1
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). 53 62 57 5
9950361 1999
2
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene. 53 62 57 5
8940265 1996
3
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). 53 62 57 5
1303211 1992
4
Multidisciplinary management of Hunter syndrome. 53 62 24 57
19901005 2009
5
Hunter disease in the Spanish population: molecular analysis in 31 families. 62 57 5
9762601 1998
6
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). 62 57 5
9501270 1998
7
Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients. 62 57 5
7581397 1995
8
Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene. 62 57 5
8111411 1993
9
Hunter syndrome: gene deletions and rearrangements. 62 57 5
8318991 1993
10
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). 62 57 5
1906048 1991
11
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype. 62 24 5
28543354 2017
12
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. 62 24 5
24125893 2014
13
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. 62 24 5
24515576 2014
14
Mucopolysaccharidosis type II: an update on mutation spectrum. 62 24 5
17391447 2007
15
Incidence of the mucopolysaccharidoses in Western Australia. 62 24 57
14608657 2003
16
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. 57 5
9660053 1998
17
A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient. 57 5
8829661 1996
18
Mild and severe Hunter syndrome (MPS II) within the same sibships. 62 24 57
140775 1977
19
Characterization of a novel p.S305P and a known c.1006+5G>C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II. 53 62 5
17655837 2007
20
Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis. 53 62 5
17091340 2006
21
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. 53 62 5
17063374 2006
22
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. 53 62 5
16480701 2006
23
Mutational and structural analysis of Japanese patients with mucopolysaccharidosis type II. 53 62 5
16133661 2005
24
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. 53 62 5
14728992 2004
25
Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome. 53 62 5
12794697 2003
26
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II. 53 62 5
11731225 2001
27
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. 53 62 5
11462244 2001
28
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. 53 62 57
10737977 2000
29
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. 53 62 57
9921913 1998
30
DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. 53 62 57
9482575 1998
31
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. 53 62 5
10215411 1998
32
Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome. 53 62 57
9244428 1997
33
IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient. 53 62 57
8807335 1996
34
Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome. 53 62 57
8528670 1995
35
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. 53 62 57
8265633 1993
36
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. 53 62 5
1355630 1992
37
Detection of point mutations and a gross deletion in six Hunter syndrome patients. 53 62 5
1639384 1992
38
Molecular analysis of patients with Hunter syndrome: implication of a region prone to structural alterations within the IDS gene. 53 62 57
1303177 1992
39
Structural gene aberrations in mucopolysaccharidosis II (Hunter). 53 62 57
1352274 1992
40
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. 53 62 57
1733863 1992
41
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl. 53 62 57
1678247 1991
42
Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. 53 62 57
1901826 1991
43
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II. 62 5
35144014 2022
44
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan. 62 57
34090759 2021
45
Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II). 62 5
33676511 2021
46
Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). 62 5
31877959 2019
47
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. 62 5
30639582 2019
48
Epidemiology of mucopolysaccharidoses. 62 57
28595941 2017
49
Insights into Hunter syndrome from the structure of iduronate-2-sulfatase. 62 5
28593992 2017
50
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II. 62 5
27883178 2017

Variations for Mucopolysaccharidosis, Type Ii

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Ii:

5 (show top 50) (show all 483)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106050102, IDS NM_000202.8(IDS):c.692C>T (p.Pro231Leu) SNV Affects
1065825 GRCh37: X:148579654-148579654
GRCh38: X:149498123-149498123
2 LOC106050102, IDS NM_000202.8(IDS):c.801G>T (p.Trp267Cys) SNV Affects
1065831 GRCh37: X:148577955-148577955
GRCh38: X:149496424-149496424
3 IDS NM_000202.8(IDS):c.182C>T (p.Ser61Phe) SNV Affects
1065845 GRCh37: X:148585745-148585745
GRCh38: X:149504215-149504215
4 IDS NM_000202.8(IDS):c.1506G>T (p.Trp502Cys) SNV Affects
1065846 GRCh37: X:148564424-148564424
GRCh38: X:149482893-149482893
5 LOC106050102, IDS NM_000202.8(IDS):c.806A>T (p.Asp269Val) SNV Affects
427181 rs1085308006 GRCh37: X:148577950-148577950
GRCh38: X:149496419-149496419
6 LOC106050102, IDS NM_000202.8(IDS):c.867del (p.Val290fs) DEL Pathogenic
1709792 GRCh37: X:148577889-148577889
GRCh38: X:149496358-149496358
7 LOC106050102, IDS NM_000202.8(IDS):c.880-2A>T SNV Pathogenic
1709794 GRCh37: X:148571973-148571973
GRCh38: X:149490442-149490442
8 LOC106050102, IDS NM_000202.8(IDS):c.601_602del (p.Ser201fs) MICROSAT Pathogenic
997038 GRCh37: X:148579744-148579745
GRCh38: X:149498213-149498214
9 IDS NM_000202.8(IDS):c.1277_1450del (p.Ser426_Asp484delinsTyr) DEL Pathogenic
1710487 GRCh37: X:148564480-148564653
GRCh38: X:149482949-149483122
10 IDS NM_000202.8(IDS):c.404_405del (p.Lys135fs) DEL Pathogenic
499561 rs1557340221 GRCh37: X:148584855-148584856
GRCh38: X:149503325-149503326
11 IDS NM_000202.8(IDS):c.181T>C (p.Ser61Pro) SNV Pathogenic
221205 rs113993955 GRCh37: X:148585746-148585746
GRCh38: X:149504216-149504216
12 LOC106050102, IDS NM_000202.8(IDS):c.998C>T (p.Ser333Leu) SNV Pathogenic
10487 rs104894853 GRCh37: X:148571853-148571853
GRCh38: X:149490322-149490322
13 LOC106050102, IDS NM_000202.8(IDS):c.514C>T (p.Arg172Ter) SNV Pathogenic
10490 rs104894860 GRCh37: X:148579832-148579832
GRCh38: X:149498301-149498301
14 IDS NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) SNV Pathogenic
Pathogenic
10498 rs113993946 GRCh37: X:148564527-148564527
GRCh38: X:149482996-149482996
15 IDS NM_000202.8(IDS):c.262C>T (p.Arg88Cys) SNV Pathogenic
92618 rs398123249 GRCh37: X:148584998-148584998
GRCh38: X:149503468-149503468
16 IDS NM_000202.8(IDS):c.253G>A (p.Ala85Thr) SNV Pathogenic
92617 rs113993949 GRCh37: X:148585007-148585007
GRCh38: X:149503477-149503477
17 IDS NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) SNV Pathogenic
221203 rs113993946 GRCh37: X:148564527-148564527
GRCh38: X:149482996-149482996
18 LOC106050102, IDS NM_000202.8(IDS):c.473ATC[1] (p.His159del) MICROSAT Pathogenic
437443 rs1557339887 GRCh37: X:148582509-148582511
GRCh38: X:149500978-149500980
19 IDS NM_000202.8(IDS):c.257C>T (p.Pro86Leu) SNV Pathogenic
527322 rs1557340280 GRCh37: X:148585003-148585003
GRCh38: X:149503473-149503473
20 LOC106050102, IDS NM_000202.8(IDS):c.708+1G>T SNV Pathogenic
854324 rs864622778 GRCh37: X:148579637-148579637
GRCh38: X:149498106-149498106
21 IDS NM_000202.8(IDS):c.22C>T (p.Arg8Ter) SNV Pathogenic
945437 rs1602750610 GRCh37: X:148586646-148586646
GRCh38: X:149505116-149505116
22 LOC106050102, IDS NM_000202.8(IDS):c.596_599del (p.Lys199fs) DEL Pathogenic
968377 rs2089451657 GRCh37: X:148579747-148579750
GRCh38: X:149498216-149498219
23 IDS NM_000202.8(IDS):c.257C>G (p.Pro86Arg) SNV Pathogenic
996919 rs1557340280 GRCh37: X:148585003-148585003
GRCh38: X:149503473-149503473
24 IDS NM_000202.8(IDS):c.1216_1217del (p.Leu406fs) MICROSAT Pathogenic
1360889 GRCh37: X:148564713-148564714
GRCh38: X:149483182-149483183
25 IDS NM_000202.8(IDS):c.212G>A (p.Ser71Asn) SNV Pathogenic
1392667 GRCh37: X:148585715-148585715
GRCh38: X:149504185-149504185
26 IDS NM_000202.8(IDS):c.1224dup (p.Thr409fs) DUP Pathogenic
1453829 GRCh37: X:148564705-148564706
GRCh38: X:149483174-149483175
27 LOC106050102, IDS NM_000202.8(IDS):c.998C>G (p.Ser333Trp) SNV Pathogenic
1459022 GRCh37: X:148571853-148571853
GRCh38: X:149490322-149490322
28 IDS NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) SNV Pathogenic
10486 rs199422227 GRCh37: X:148564603-148564603
GRCh38: X:149483072-149483072
29 LOC106050102, IDS NM_000202.8(IDS):c.908_909del (p.Ser303fs) MICROSAT Pathogenic
221217 rs193302913 GRCh37: X:148571942-148571943
GRCh38: X:149490411-149490412
30 IDS NM_000202.8(IDS):c.252C>G (p.Cys84Trp) SNV Pathogenic
996920 rs1557340286 GRCh37: X:148585008-148585008
GRCh38: X:149503478-149503478
31 LOC106050102, IDS NM_000202.8(IDS):c.1047C>A (p.Ser349Arg) SNV Pathogenic
996921 rs375836575 GRCh37: X:148568589-148568589
GRCh38: X:149487058-149487058
32 IDS NM_000202.8(IDS):c.162T>A (p.Tyr54Ter) SNV Pathogenic
996934 rs141088021 GRCh37: X:148585765-148585765
GRCh38: X:149504235-149504235
33 IDS NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) SNV Pathogenic
997033 GRCh37: X:148564460-148564460
GRCh38: X:149482929-149482929
34 IDS NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) SNV Pathogenic
985029 rs2089304408 GRCh37: X:148564433-148564433
GRCh38: X:149482902-149482902
35 IDS NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) SNV Pathogenic
997034 GRCh37: X:148564425-148564425
GRCh38: X:149482894-149482894
36 IDS NM_000202.8(IDS):c.152_236del (p.Leu51fs) DEL Pathogenic
997036 GRCh37: X:148585691-148585775
GRCh38: X:149504161-149504245
37 LOC106050102, IDS NM_000202.8(IDS):c.474del (p.His159fs) DEL Pathogenic
997037 GRCh37: X:148582513-148582513
GRCh38: X:149500982-149500982
38 LOC106050102, IDS NM_000202.8(IDS):c.895dup (p.Ser299fs) DUP Pathogenic
997039 GRCh37: X:148571955-148571956
GRCh38: X:149490424-149490425
39 LOC106050102, IDS NM_000202.8(IDS):c.955del (p.Asp319fs) DEL Pathogenic
997040 GRCh37: X:148571896-148571896
GRCh38: X:149490365-149490365
40 IDS NM_000202.8(IDS):c.1272del (p.Pro425fs) DEL Pathogenic
997041 GRCh37: X:148564658-148564658
GRCh38: X:149483127-149483127
41 IDS NM_000202.8(IDS):c.1316del (p.Leu439fs) DEL Pathogenic
997042 GRCh37: X:148564614-148564614
GRCh38: X:149483083-149483083
42 IDS NM_000202.8(IDS):c.1466del (p.Gly489fs) DEL Pathogenic
997043 GRCh37: X:148564464-148564464
GRCh38: X:149482933-149482933
43 IDS NM_000202.8(IDS):c.418+2T>C SNV Pathogenic
997091 GRCh37: X:148584840-148584840
GRCh38: X:149503310-149503310
44 IDS NM_000202.8(IDS):c.57del (p.Val20fs) DEL Pathogenic
997092 GRCh37: X:148586611-148586611
GRCh38: X:149505081-149505081
45 LOC106050102, IDS NM_000202.8(IDS):c.886dup (p.Ile296fs) DUP Pathogenic
997094 GRCh37: X:148571964-148571965
GRCh38: X:149490433-149490434
46 overlap with 63 genes GRCh38/hg38 Xq27.3-28(chrX:145728205-150464413)x1 CN LOSS Pathogenic
1077156 GRCh37:
GRCh38: X:145017774-151174844
47 IDS NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) SNV Pathogenic
285082 rs886044837 GRCh37: X:148564339-148564339
GRCh38: X:149482808-149482808
48 LOC106050102, IDS NM_000202.8(IDS):c.589_592del (p.Pro197fs) DEL Pathogenic
638080 rs1602742854 GRCh37: X:148579754-148579757
GRCh38: X:149498223-149498226
49 IDS NC_000023.10:g.(?_148579618)_(148586687_?)del DEL Pathogenic
645359 GRCh37: X:148579618-148586687
GRCh38:
50 IDS NC_000023.10:g.(?_148578704)_(148586687_?)del DEL Pathogenic
649624 GRCh37: X:148578704-148586687
GRCh38:

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

73 (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 rs1569560528
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 rs1557340280
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 rs193302911
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 rs1085308006
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 directly related to Mucopolysaccharidosis, Type Ii:

# Pathway Source
1 MPS II - Hunter syndrome Reactome 66

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
2
Show member pathways
13.54 SGSH NAGLU IDUA IDS HGSNAT GNS
3
Show member pathways
12.74 ARSB GALNS GLB1 GNS HGSNAT IDS
4
Show member pathways
12.46 SGSH NAGLU IDUA IDS HGSNAT GNS
5
Show member pathways
12.07 SUMF1 GLB1 GLA GBA1 ARSH ARSB
6
Show member pathways
11.95 TFRC M6PR IGF2R GNS
7
Show member pathways
11.74 SUMF1 ARSH ARSB ARSA
8
Show member pathways
11.65 GNS GLB1 GALNS
9
Show member pathways
11.19 SGSH NAGLU IDUA IDS HGSNAT GLB1
10
Show member pathways
11.01 SGSH NAGLU IDUA IDS HGSNAT GNS
11 10.64 GLB1 GBA1

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 10.34 ARSA ARSB GALNS GBA1 GLA GLB1
2 lysosome GO:0005764 9.96 ARSA ARSB GALNS GBA1 GLA GLB1
3 azurophil granule lumen GO:0035578 9.93 GNS GLB1 GLA GALNS ARSB ARSA
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.8 TFRC M6PR IGF2R
5 lysosomal lumen GO:0043202 9.7 SGSH NAGLU IDUA IDS HGSNAT GNS

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lysosome organization GO:0007040 9.93 NAGLU GBA1 ARSB
2 receptor-mediated endocytosis GO:0006898 9.91 TFRC M6PR IGF2R
3 response to nutrient GO:0007584 9.89 TFRC ARSB ARSA
4 response to estrogen GO:0043627 9.88 GBA1 ARSB ARSA
5 lysosomal transport GO:0007041 9.76 M6PR IGF2R HGSNAT ARSB
6 metabolic process GO:0008152 9.72 GBA1 GLA GLB1 IDUA NAGLU
7 dermatan sulfate catabolic process GO:0030209 9.71 IDUA IDS
8 keratan sulfate catabolic process GO:0042340 9.67 GNS GLB1
9 response to pH GO:0009268 9.65 GBA1 ARSB ARSA
10 response to methylmercury GO:0051597 9.61 ARSB ARSA
11 heparan sulfate proteoglycan catabolic process GO:0030200 9.56 SGSH NAGLU IDS HGSNAT
12 glycosaminoglycan catabolic process GO:0006027 9.4 SGSH NAGLU IDUA IDS GNS GLB1

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.77 SGSH NAGLU IDUA IDS GNS GLB1
2 galactoside binding GO:0016936 9.76 GLB1 GLA
3 arylsulfatase activity GO:0004065 9.76 ARSA ARSB ARSH GALNS
4 retromer complex binding GO:1905394 9.73 M6PR IGF2R
5 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.67 IDUA GLB1 GLA
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.65 NAGLU IDUA GLB1 GLA GBA1
7 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.62 GALNS ARSB
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.58 SGSH GNS
9 sulfuric ester hydrolase activity GO:0008484 9.36 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis, Type Ii

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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