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

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
Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation. (23232253)
2013
2
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients. (24125893)
2013
3
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. (23707223)
2013
4
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient. (23512580)
2013
5
Increased incidence of neonatal respiratory distress in infants with mucopolysaccharidosis type II (MPS II, Hunter syndrome). (24238892)
2013
6
The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life. (23837440)
2013
7
Mucopolysaccharidosis: cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. (22278137)
2013
8
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation. (24056375)
2013
9
High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. (24005894)
2013
10
Low Bone Mineral Content and Challenges in Interpretation of Dual-Energy X-Ray Absorptiometry in Children With Mucopolysaccharidosis Types I, II, and VI. (23562131)
2013
11
Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey. (21866356)
2012
12
Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II. (22433425)
2012
13
A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II. (22622771)
2012
14
Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases. (22105882)
2012
15
A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing. (21910981)
2011
16
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy. (21334454)
2011
17
Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. (21327479)
2011
18
High prevalence of carpal tunnel syndrome in children with mucopolysaccharidosis type II (Hunter syndrome). (21567931)
2011
19
Natural progression of neurological disease in mucopolysaccharidosis type II. (21518713)
2011
20
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey. (21808707)
2010
21
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. (19926322)
2010
22
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. (18038146)
2008
23
Idursulfase: a poor risk-benefit balance in type II mucopolysaccharidosis. (18630351)
2008
24
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. (19707363)
2008
25
Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. (17714129)
2007
26
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). (17185020)
2007
27
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms. (16495038)
2006
28
Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]. (16624026)
2006
29
Prospective study of 11 Brazilian patients with mucopolysaccharidosis II. (16912829)
2006
30
Mucopolysaccharidosis type II in females: case report and review of literature. (15797184)
2005
31
Expression studies of mutations underlying Taiwanese Hunter syndrome (mucopolysaccharidosis type II). (15614569)
2005
32
Iduronate-2-sulphatase protein detection in plasma from mucopolysaccharidosis type II patients. (14728992)
2004
33
Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene. (11462244)
2001
34
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome). (9950361)
1999
35
Retroviral transduction and expansion of peripheral blood lymphocytes for the treatment of mucopolysaccharidosis type II, Hunter's syndrome. (10220258)
1999
36
MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). (8837099)
1996
37
Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]. (8685031)
1996
38
Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene. (7887413)
1995
39
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). (7981716)
1994
40
Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). (8281149)
1993
41
Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families. (8370574)
1993
42
Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II). (1283150)
1992
43
Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl. (1678247)
1991
44
MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). (2122274)
1990
45
Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. (2507197)
1989
46
Morphological observations in the nervous system of prenatal mucopolysaccharidosis II (M. Hunter). (228523)
1979
47
Morphological and biochemical studies of a case of mucopolysaccharidosis II (Hunter's syndrome). (132078)
1976
48
Multiple peripheral nerve entrapments. An unusual phenotypical variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. (4280298)
1974
49
Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form. (4629084)
1972
50
Mucopolysaccharidosis II (Hunter's syndrome). (4248769)
1970

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

About this section
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