MPS 2
MCID: MCP009
MIFTS: 68

Mucopolysaccharidosis Ii (MPS 2) malady

Metabolic diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories

Summaries for Mucopolysaccharidosis Ii

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Mucopolysaccharidosis ii (mps ii), also commonly known as hunter syndrome, is a condition that occurs almost exclusively in males. affected individuals typically have distinctive facial features, a large head, hydrocephalus, an enlarged liver and spleen, umbilical or inguinal hernia, and hearing loss. individuals with this condition may have joint deformities and heart valve problems. mps ii is caused by mutations in the ids gene.there are two types of mps ii, called the severe and attenuated types. 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 attenuated type 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. last updated: 12/29/2008

MalaCards: Mucopolysaccharidosis Ii, also known as hunter syndrome, is related to mucopolysaccharidosis and mucopolysaccharidosis ih, and has symptoms including depressed nasal bridge, structural anomalies of the cardio-circulatory system and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Mucopolysaccharidosis Ii is IDS (iduronate 2-sulfatase), and among its related pathways are MPS IIIC - Sanfilippo syndrome C and Lysosome. The compound heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and spleen.

Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase.

Genetics Home Reference:21 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.

Wikipedia:63 Hunter syndrome, or mucopolysaccharidosis Type II, is a lysosomal storage disease caused by a deficient... more...

Description from OMIM:46 309900

GeneReviews summary for hunter

Aliases & Classifications for Mucopolysaccharidosis Ii

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 30LifeMap Discovery™, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hunter syndrome:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

mucopolysaccharidosis ii 8 9 46 30 60
hunter syndrome 8 19 42 21 48
iduronate 2-sulfatase deficiency 19 42 21 48
mucopolysaccharidosis type ii 19 42 20 21
i2s deficiency 19 42 21
mucopolysaccharidosis, mps-ii 8 22
mps ii 19 21
deficiency of iduronate-2-sulphatase 8
mucopolysaccharidosis type 2 48
mps ii - hunter syndrome 8
hunter's syndrome 8
hunters syndrome 44
attenuated mps 42
mps 2 42


External Ids:

Disease Ontology8 DOID:12799
MeSH34 D016532
OMIM46 309900
NCIt39 C61260
MESH via Orphanet35 D016532
ICD10 via Orphanet26 E76.1
SNOMED-CT via Orphanet57 70737009
UMLS via Orphanet61 C0026705, C2718304
ICD1025 E76.1

Related Diseases for Mucopolysaccharidosis Ii

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mucopolysaccharidosis Ii:



Diseases related to mucopolysaccharidosis ii

Clinical Features for Mucopolysaccharidosis Ii

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46OMIM, 48Orphanet
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Clinical features from OMIM:

309900

Clinical synopsis from OMIM:

309900

Symptoms:

48 (show all 35)
  • depressed nasal bridge
  • structural anomalies of the cardio-circulatory system
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • ptosis
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • kyphosis
  • laryngomalacia
  • tracheal atresia/stenosis
  • restricted joint mobility/joint stiffness/ankylosis
  • malabsorption/chronic diarrhea/steatorrhea
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • thick skin/pachydermia/orange skin
  • short neck
  • hearing loss/hypoacusia/deafness
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • thin/retracted lips
  • flattened nose
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • coarse face
  • dolichocephaly/scaphocephaly
  • hirsutism/hypertrichosis/increased body hair
  • storage liver disease
  • pectus excavatum
  • retinitis pigmentosa/retinal pigmentary changes
  • prognathism/prognathia
  • short stature/dwarfism/nanism
  • x-linked recessive inheritance
  • mucopolysacchariduria
  • psychic/behavioural troubles
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • splenomegaly
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Mucopolysaccharidosis Ii

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mucopolysaccharidosis Ii

Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Ii

Search NIH Clinical Center for Mucopolysaccharidosis Ii

Search CenterWatch for Mucopolysaccharidosis Ii

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Mucopolysaccharidosis Ii cell therapies at LifeMap Discovery.

Genetic Tests for Mucopolysaccharidosis Ii

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20GeneTests, 22GTR
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Genetic tests related to Mucopolysaccharidosis Ii:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Ii20 IDS
2 Mucopolysaccharidosis, Mps-Ii22

Anatomical Context for Mucopolysaccharidosis Ii

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32MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis Ii:

32
Liver, Heart, Spleen, Skin, Bone, Eye, Tongue, Brain, Testes, Bone marrow, Skeletal muscle

Animal Models for Mucopolysaccharidosis Ii or affiliated genes

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Publications for Mucopolysaccharidosis Ii

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50PubMed
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Articles related to Mucopolysaccharidosis Ii:

(show top 50)    (show all 169)
idTitleAuthorsYear
1
A commentary on high-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. (24225991)
2013
2
Enzyme augmentation therapy enhances the therapeutic efficacy of bone marrow transplantation in mucopolysaccharidosis type II mice. (24100247)
2013
3
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study. (23800320)
2013
4
Mucopolysaccharidosis Type II and the G374sp Mutation. (23801937)
2013
5
Relationship of sleep to pulmonary function in mucopolysaccharidosis II. (23305961)
2013
6
Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of I+-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. (24266751)
2013
7
Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome). (23726952)
2013
8
Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population. (23430804)
2013
9
Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). (22190500)
2012
10
Clinical utility gene card for: mucopolysaccharidosis type II. (21863056)
2012
11
Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome). (23209998)
2012
12
Three Adult Siblings with Mucopolysaccharidosis Type II (Hunter Syndrome): A Report on Clinical Heterogeneity and 12 Months of Therapy with Idursulfase. (23430829)
2011
13
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. (20978944)
2011
14
Cardiac magnetic resonance imaging of mucopolysaccharidosis type II cardiomyopathy. (21168227)
2011
15
The reliability of death certification in patients dying with mucopolysaccharidosis type II (Hunter syndrome). (21542835)
2011
16
Early clinical markers of central nervous system involvement in mucopolysaccharidosis type II. (21530981)
2011
17
Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. (20504305)
2010
18
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. (21108396)
2010
19
Mucopolysaccharidosis type II: skeletal-muscle system involvement. (20354449)
2010
20
Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. (20203116)
2010
21
Characterization of a novel mucopolysaccharidosis type II mouse model and recombinant AAV2/8 vector-mediated gene therapy. (20652491)
2010
22
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). (19773189)
2010
23
Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. (20136838)
2010
24
Psychological status of patients with mucopolysaccharidosis type II and their parents. (19371276)
2009
25
Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype. (19588268)
2009
26
Idursulfase for the treatment of mucopolysaccharidosis II. (18201153)
2008
27
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy. (17161971)
2007
28
Postnatal and prenatal diagnosis of mucopolysaccharidosis type II (Hunter syndrome)]. (17217652)
2006
29
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). (16912578)
2006
30
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. (16480701)
2006
31
Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samples. (16497940)
2006
32
Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations. (17063374)
2006
33
Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report. (12572850)
2002
34
Molecular basis of mucopolysaccharidosis type II in Portugal: identification of four novel mutations. (11683780)
2001
35
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). (9501270)
1998
36
Mucopolysaccharidosis type II (Hunter syndrome): mutation 'hot spots' in the iduronate-2-sulfatase gene. (8940265)
1996
37
Preclinical studies of lymphocyte gene therapy for mild Hunter syndrome (mucopolysaccharidosis type II). (8835216)
1996
38
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). (8747590)
1995
39
Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome). (7728156)
1995
40
Metabolic correction and cross-correction of mucopolysaccharidosis type II (Hunter syndrome) by retroviral-mediated gene transfer and expression of human iduronate-2-sulfatase. (8265633)
1993
41
Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene. (8103756)
1993
42
Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome). (1303211)
1992
43
Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II. (1355630)
1992
44
Structural gene aberrations in mucopolysaccharidosis II (Hunter). (1352274)
1992
45
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). (1906048)
1991
46
Hunter syndrome (mucopolysaccharidosis II). (2113673)
1990
47
Pathological and biochemical study in the adenoid of mucopolysaccharidosis II. (3938449)
1985
48
Hearing loss in Hunter's syndrome--mucopolysaccharidosis II. (6432613)
1984
49
Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum. (150330)
1978
50
Clinical heterogeneity in mucopolysaccharidosis. II. Evidence for epistasis. (4218494)
1974

Genetic Variations for Mucopolysaccharidosis Ii

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Mucopolysaccharidosis Ii:

62 (show all 126)
id Symbol AA change Variation ID SNP ID
1IDSp.Asp45AsnVAR_007313
2IDSp.Arg48ProVAR_007314
3IDSp.Tyr54AspVAR_007315
4IDSp.Asn63AspVAR_007316
5IDSp.Ala68GluVAR_007317
6IDSp.Ala79GluVAR_007318
7IDSp.Ala85ThrVAR_007319
8IDSp.Pro86LeuVAR_007320
9IDSp.Pro86GlnVAR_007321
10IDSp.Pro86ArgVAR_007322
11IDSp.Ser87AsnVAR_007323
12IDSp.Arg88CysVAR_007324
13IDSp.Arg88HisVAR_007325
14IDSp.Arg88LeuVAR_007326
15IDSp.Arg88ProVAR_007327
16IDSp.Leu92ProVAR_007328
17IDSp.Gly94AspVAR_007329
18IDSp.Leu102ArgVAR_007330
19IDSp.Tyr108CysVAR_007331
20IDSp.Asn115TyrVAR_007332
21IDSp.Thr118IleVAR_007333
22IDSp.Pro120HisVAR_007334
23IDSp.Pro120ArgVAR_007335
24IDSp.Glu125ValVAR_007336
25IDSp.Ser132TrpVAR_007337
26IDSp.Gly134ArgVAR_007338
27IDSp.Lys135AsnVAR_007339
28IDSp.Lys135ArgVAR_007340rs28937311
29IDSp.Ser143PheVAR_007341
30IDSp.His159ProVAR_007342
31IDSp.Pro160ArgVAR_007344
32IDSp.Cys184PheVAR_007345
33IDSp.Cys184TrpVAR_007346
34IDSp.Leu196SerVAR_007347
35IDSp.Asp198GlyVAR_007348
36IDSp.Leu221ProVAR_007349
37IDSp.Gly224GluVAR_007350
38IDSp.Tyr225AspVAR_007351
39IDSp.Lys227GlnVAR_007352
40IDSp.Pro228LeuVAR_007353
41IDSp.His229TyrVAR_007354
42IDSp.Asp252AsnVAR_007355rs146458524
43IDSp.Pro266HisVAR_007356
44IDSp.Pro266ArgVAR_007357
45IDSp.Asp269ValVAR_007358
46IDSp.Gln293HisVAR_007359
47IDSp.Ser333LeuVAR_007360
48IDSp.Trp337ArgVAR_007361
49IDSp.Gly340AspVAR_007362
50IDSp.Trp345CysVAR_007363
51IDSp.Ala346AspVAR_007364
52IDSp.Ala346ValVAR_007365
53IDSp.Lys347IleVAR_007366
54IDSp.Lys347ThrVAR_007367
55IDSp.Tyr348HisVAR_007368
56IDSp.Ser349IleVAR_007369
57IDSp.Pro358ArgVAR_007370
58IDSp.Leu403ArgVAR_007371
59IDSp.Cys422GlyVAR_007372rs28937310
60IDSp.Cys432TyrVAR_007373
61IDSp.Glu434LysVAR_007374
62IDSp.Arg468GlyVAR_007375
63IDSp.Arg468LeuVAR_007376
64IDSp.Arg468GlnVAR_007377
65IDSp.Arg468TrpVAR_007378
66IDSp.Pro469HisVAR_007379
67IDSp.Asp478GlyVAR_007380
68IDSp.Asp478TyrVAR_007381
69IDSp.Ile485LysVAR_007382
70IDSp.Ile485ArgVAR_007383
71IDSp.Trp502CysVAR_007384
72IDSp.Trp502SerVAR_007385
73IDSp.Glu521ValVAR_007386
74IDSp.Tyr523CysVAR_007387
75IDSp.Glu341LysVAR_008134
76IDSp.His342TyrVAR_008135
77IDSp.Ser491PheVAR_008136
78IDSp.Ser71ArgVAR_008998
79IDSp.Ala82GluVAR_008999
80IDSp.Tyr264AsnVAR_009001
81IDSp.Asp334GlyVAR_009002
82IDSp.Gln465ProVAR_009003
83IDSp.Leu41ProVAR_026915
84IDSp.Ser71AsnVAR_026916
85IDSp.Leu73PheVAR_026917
86IDSp.Ala82ValVAR_026918
87IDSp.Ala85SerVAR_026919
88IDSp.Arg88GlyVAR_026920
89IDSp.Val89PheVAR_026921
90IDSp.Arg95GlyVAR_026922
91IDSp.Arg95ThrVAR_026923
92IDSp.Tyr108SerVAR_026924
93IDSp.Ser117TyrVAR_026926
94IDSp.Gln121HisVAR_026928
95IDSp.Gln121ArgVAR_026929
96IDSp.His138AspVAR_026930
97IDSp.Gly140ValVAR_026931
98IDSp.Asp148HisVAR_026932
99IDSp.Asn181IleVAR_026933
100IDSp.Leu182ProVAR_026934
101IDSp.Ala205ProVAR_026935
102IDSp.Lys227MetVAR_026936
103IDSp.Pro228ThrVAR_026937
104IDSp.His229ArgVAR_026938
105IDSp.Pro231LeuVAR_026939
106IDSp.Leu259ProVAR_026940
107IDSp.Asn265IleVAR_026941
108IDSp.Ser299IleVAR_026942
109IDSp.Asp308GluVAR_026943
110IDSp.Asp308AsnVAR_026944
111IDSp.Thr309AlaVAR_026945rs145807417
112IDSp.Leu314ProVAR_026947
113IDSp.Asp334AsnVAR_026948
114IDSp.His335ArgVAR_026949
115IDSp.Gly336GluVAR_026950
116IDSp.Gly336ArgVAR_026951
117IDSp.Leu339ArgVAR_026952
118IDSp.Lys347GlnVAR_026953
119IDSp.Leu410ProVAR_026954
120IDSp.Cys422ArgVAR_026955
121IDSp.Pro467LeuVAR_026956
122IDSp.Pro480LeuVAR_026957
123IDSp.Pro480GlnVAR_026958
124IDSp.Pro480ArgVAR_026959
125IDSp.Tyr490SerVAR_026961
126IDSp.Glu521LysVAR_026962

Expression for genes affiliated with Mucopolysaccharidosis Ii

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mucopolysaccharidosis Ii

Search GEO for disease gene expression data for Mucopolysaccharidosis Ii.

Pathways for genes affiliated with Mucopolysaccharidosis Ii

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53Reactome, 29KEGG
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Compounds for genes affiliated with Mucopolysaccharidosis Ii

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44Novoseek, 24HMDB
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Compounds related to Mucopolysaccharidosis Ii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate44 2410.3IDS, HGSNAT

GO Terms for genes affiliated with Mucopolysaccharidosis Ii

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16Gene Ontology
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Biological processes related to Mucopolysaccharidosis Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:0059759.3IDS, HGSNAT
2glycosaminoglycan catabolic processGO:0060279.2IDS, HGSNAT
3glycosaminoglycan metabolic processGO:0302039.0IDS, HGSNAT

Products for genes affiliated with Mucopolysaccharidosis Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet