MPS 2
MCID: MCP009
MIFTS: 56

Mucopolysaccharidosis Ii (MPS 2) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases categories
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Summaries for Mucopolysaccharidosis Ii

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Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 mucopolysaccharidosis type ii, is related to mucopolysaccharidosis and mucopolysaccharidosis ih, and has symptoms including malabsorption/chronic diarrhea/steatorrhea, 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). Affiliated tissues include liver, spleen and heart.

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:65 Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a lysosomal storage disease caused by a... more...

Description from OMIM:47 309900

GeneReviews summary for hunter

Aliases & Classifications for Mucopolysaccharidosis Ii

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 31LifeMap Discovery‚ĄĘ, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
mucopolysaccharidosis type ii:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

mucopolysaccharidosis ii 8 9 47 31 62
mucopolysaccharidosis type ii 19 43 20 21 49
hunter syndrome 8 19 43 21 49
iduronate 2-sulfatase deficiency 19 43 21 49
i2s deficiency 19 43 21
mps ii 19 43 21
mucopolysaccharidosis, mps-ii 8 22
deficiency of iduronate-2-sulphatase 8
mucopolysaccharidosis type 2 49
mps ii - hunter syndrome 8
hunter's syndrome 8
hunters syndrome 45
attenuated mps 43
severe mps ii 43
mps 2 43


External Ids:

Disease Ontology8 DOID:12799
OMIM47 309900
MeSH35 D016532
NCIt40 C61260
MESH via Orphanet36 D016532
ICD10 via Orphanet26 E76.1
SNOMED-CT via Orphanet59 70737009
UMLS via Orphanet63 C0026705, C2718304
ICD1025 E76.1

Related Diseases for Mucopolysaccharidosis Ii

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



Diseases related to mucopolysaccharidosis ii

Symptoms for Mucopolysaccharidosis Ii

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

309900

Clinical features from OMIM:

309900

Symptoms:

49 (show all 35)
  • malabsorption/chronic diarrhea/steatorrhea
  • 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
  • depressed nasal bridge
  • umbilical hernia
  • inguinal/inguinoscrotal/crural hernia
  • pectus excavatum
  • 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
  • thick skin/pachydermia/orange skin
  • hirsutism/hypertrichosis/increased body hair
  • storage liver disease
  • 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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42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery‚ĄĘ, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Ii

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis Ii:

33
Liver, Spleen, Heart, Skin, Bone, Eye, Tongue, Brain, Testes

Animal Models for Mucopolysaccharidosis Ii or affiliated genes

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Publications for Mucopolysaccharidosis Ii

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52PubMed
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Articles related to Mucopolysaccharidosis Ii:

(show all 48)
idTitleAuthorsYear
1
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5 years and older treated with intravenous idursulfase. (23988379)
2013
2
Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). (23497636)
2013
3
Plasmatic kinetics of dermatan sulfate during enzyme replacement therapy with iduronate-2-sulfatase in a mucopolysaccharidosis II patient. (23512580)
2013
4
Relationship of sleep to pulmonary function in mucopolysaccharidosis II. (23305961)
2013
5
Optic canal narrowing in Hunter syndrome (mucopolysaccharidosis II). (23370478)
2013
6
Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2). (22190500)
2012
7
Hearing loss in patients with mucopolysaccharidosis II: data from HOS - the Hunter Outcome Survey. (21866356)
2012
8
Plasmatic and Urinary Glycosaminoglycans Characterization in Mucopolysaccharidosis II Patient Treated with Enzyme-Replacement Therapy with Idursulfase. (23430900)
2012
9
Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up. (21672014)
2012
10
A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing. (21910981)
2011
11
Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). (21192662)
2011
12
Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II. (20203116)
2010
13
Central corneal thickness in mucopolysaccharidosis II and VI. (20098308)
2010
14
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). (19773189)
2010
15
Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). (18245410)
2008
16
Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. (19707363)
2008
17
Gene symbol: IDS. Disease: Mucopolysaccharidosis II. (20960627)
2008
18
Idursulfase for the treatment of mucopolysaccharidosis II. (18201153)
2008
19
The characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome). (17876721)
2007
20
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II. (17569950)
2007
21
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease). (17082248)
2007
22
A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). (17185020)
2007
23
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
24
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). (16912578)
2006
25
Prospective study of 11 Brazilian patients with mucopolysaccharidosis II. (16912829)
2006
26
Magnetic resonance imaging findings in mild mucopolysaccharidosis II (Hunter's syndrome). (10726837)
1998
27
MRI in the mild type of mucopolysaccharidosis II (Hunter's syndrome). (8837099)
1996
28
Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis]. (8685031)
1996
29
What syndrome is this? Hunter syndrome (mucopolysaccharidosis II). (8747590)
1995
30
Mutations of the iduronate-2-sulfatase (IDS) gene in patients with Hunter syndrome (mucopolysaccharidosis II). (7981716)
1994
31
Structural gene aberrations in mucopolysaccharidosis II (Hunter). (1352274)
1992
32
The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome). (1906048)
1991
33
Hunter syndrome (mucopolysaccharidosis II). (2113673)
1990
34
MRI findings in the mild type of mucopolysaccharidosis II (Hunter's syndrome). (2122274)
1990
35
Diagnostic test for mucopolysaccharidosis. II. Rapid quantification of glycosaminoglycan in urine samples collected on a paper matrix. (2507197)
1989
36
Pathological and biochemical study in the adenoid of mucopolysaccharidosis II. (3938449)
1985
37
Hearing loss in Hunter's syndrome--mucopolysaccharidosis II. (6432613)
1984
38
Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study. (6770331)
1980
39
Morphological observations in the nervous system of prenatal mucopolysaccharidosis II (M. Hunter). (228523)
1979
40
Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum. (150330)
1978
41
A pathological basis for the cutaneous papules of mucopolysaccharidosis II (the Hunter syndrome). (112128)
1977
42
Peripheral nerve involvement in Hunter syndrome (mucopolysaccharidosis II). (187158)
1976
43
Morphological and biochemical studies of a case of mucopolysaccharidosis II (Hunter's syndrome). (132078)
1976
44
Clinical heterogeneity in mucopolysaccharidosis. II. Evidence for epistasis. (4218494)
1974
45
Multiple peripheral nerve entrapments. An unusual phenotypical variant of the Hunter syndrome (mucopolysaccharidosis II) in a family. (4280298)
1974
46
Inefficacy of fresh frozen plasma therapy of mucopolysaccharidosis II. (4343502)
1972
47
Clinical and probable genetic heterogeneity within mucopolysaccharidosis. II. Report of a family with a mild form. (4629084)
1972
48
Mucopolysaccharidosis II (Hunter's syndrome). (4248769)
1970

Variations for Mucopolysaccharidosis Ii

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Ii:

64 (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

Clinvar genetic disease variations for Mucopolysaccharidosis Ii:

1 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1IDSNM_000202.6(IDS): c.1327C> T (p.Arg443Ter)single nucleotide variantPathogenicrs199422227GRCh37Chr X, 148564603: 148564603
2IDSNM_000202.6(IDS): c.998C> T (p.Ser333Leu)single nucleotide variantPathogenicrs104894853GRCh37Chr X, 148571853: 148571853
3IDSNM_000202.6(IDS): c.1505G> C (p.Trp502Ser)single nucleotide variantPathogenicrs199422228GRCh37Chr X, 148564425: 148564425
4IDSNM_000202.6(IDS): c.479C> G (p.Pro160Arg)single nucleotide variantPathogenicrs104894856GRCh37Chr X, 148582508: 148582508
5IDSNM_000202.6(IDS): c.514C> T (p.Arg172Ter)single nucleotide variantPathogenicrs104894860GRCh37Chr X, 148579832: 148579832
6IDSNM_000202.6(IDS): c.1122C> T (p.Gly374=)single nucleotide variantPathogenicrs113993948GRCh37Chr X, 148568514: 148568514
7IDSNC_000023.11: g.149478764-?_149505354+?deldeletionPathogenic
8IDSNM_000202.6(IDS): c.1264T> G (p.Cys422Gly)single nucleotide variantPathogenicrs199422229GRCh37Chr X, 148564666: 148564666
9IDSNM_000202.6(IDS): c.404A> G (p.Lys135Arg)single nucleotide variantPathogenicrs104894861GRCh37Chr X, 148584856: 148584856
10IDSNM_000202.6(IDS): c.1425G> A (p.Trp475Ter)single nucleotide variantPathogenicrs199422230GRCh37Chr X, 148564505: 148564505
11IDSNM_000202.6(IDS): c.509_510delCA (p.Thr170Metfs)deletionPathogenicrs483352904GRCh37Chr X, 148579836: 148579837
12IDSNM_000202.6(IDS): c.349_351delTCC (p.Ser117del)deletionPathogenicrs483352905GRCh37Chr X, 148584909: 148584911
13IDSNM_000202.6(IDS): c.1466G> C (p.Gly489Ala)single nucleotide variantPathogenicrs104894863GRCh37Chr X, 148564464: 148564464

Expression for genes affiliated with Mucopolysaccharidosis Ii

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2BioGPS, 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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Compounds for genes affiliated with Mucopolysaccharidosis Ii

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GO Terms for genes affiliated with Mucopolysaccharidosis Ii

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Products for genes affiliated with Mucopolysaccharidosis Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Ii

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet