MPS 2
MCID: MCP009
MIFTS: 54

Mucopolysaccharidosis Ii (MPS 2) malady

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

Summaries for Mucopolysaccharidosis Ii

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 hunter syndrome, is related to mucopolysaccharidosis i and n syndrome, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, short neck and pectus excavatum. 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 skin, liver and spinal cord.

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

Description from OMIM:47 309900

GeneReviews summary for hunter

Aliases & Classifications for Mucopolysaccharidosis Ii

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Metabolic, Neuronal, Eye, Bone, Skin


Characteristics (Orphanet epidemiological data):

49
hunter syndrome:
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: Adult


Aliases & Descriptions:

mucopolysaccharidosis ii 8 9 47 31 61
hunter syndrome 8 19 43 21 49
iduronate 2-sulfatase deficiency 19 43 21 49
mucopolysaccharidosis type ii 19 43 20 21
i2s deficiency 19 43 21
mucopolysaccharidosis, mps-ii 8 22
mps ii 19 21
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
mps 2 43


External Ids:

Disease Ontology8 DOID:12799
MeSH35 D016532
OMIM47 309900
NCIt40 C61260
MESH via Orphanet36 D016532
ICD10 via Orphanet26 E76.1
SNOMED-CT via Orphanet58 70737009
UMLS via Orphanet62 C0026705, C2718304
ICD1025 E76.1

Related Diseases for Mucopolysaccharidosis Ii

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to mucopolysaccharidosis ii

Clinical Features for Mucopolysaccharidosis Ii

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

309900

Clinical synopsis from OMIM:

309900

Symptoms:

49 (show all 35)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • short neck
  • pectus excavatum
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ptosis
  • kyphosis
  • coarse face
  • depressed nasal bridge
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • hearing loss/hypoacusia/deafness
  • storage liver disease
  • splenomegaly
  • inguinal/inguinoscrotal/crural hernia
  • psychic/behavioural troubles
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • prognathism/prognathia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • umbilical hernia
  • malabsorption/chronic diarrhea/steatorrhea
  • restricted joint mobility/joint stiffness/ankylosis
  • mucopolysacchariduria
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • short stature/dwarfism/nanism
  • 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

Drugs & Therapeutics for Mucopolysaccharidosis Ii

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mucopolysaccharidosis Ii:

33
Skin, Liver, Spinal cord, Brain, Spleen, Bone marrow, Whole blood, Cerebellum, Heart, T cells, B cells

Animal Models for Mucopolysaccharidosis Ii or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Mucopolysaccharidosis Ii

Sources:
51PubMed
See all sources

Articles related to Mucopolysaccharidosis Ii:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. (23667853)
2013
2
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis. (23380547)
2013
3
Mucopolysaccharidosis Type IIIA presents as a variant of KlA1ver-Bucy syndrome. (23745734)
2013
4
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. (23661660)
2013
5
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. (23301227)
2013
6
Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice. (22008915)
2012
7
Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. (22547151)
2012
8
Peripheral nervous system neuropathology and progressive sensory impairments in a mouse model of Mucopolysaccharidosis IIIB. (23049915)
2012
9
Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells. (23022219)
2012
10
Differential distribution of heparan sulfate glycoforms and elevated expression of heparan sulfate biosynthetic enzyme genes in the brain of mucopolysaccharidosis IIIB mice. (21225451)
2011
11
Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test. (22028789)
2011
12
Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC. (21957468)
2011
13
Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice. (19926322)
2010
14
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. (21061399)
2010
15
Serum MIP-1 alpha level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice. (20162365)
2010
16
Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha- glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC. (20650889)
2010
17
Storage vesicles in neurons are related to Golgi complex alterations in mucopolysaccharidosis IIIB. (21037080)
2010
18
Hemiatrophy of the spinal cord in a patient with mucopolysaccharidosis type IIIB. (20197271)
2010
19
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). (20138557)
2010
20
Diagnosis of caprine mucopolysaccharidosis type IIID by real-time polymerase chain reaction-based genotyping. (20622237)
2010
21
Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. (19690584)
2010
22
Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. (20673764)
2010
23
Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer. (20683858)
2010
24
Gastrointestinal pathology in a mouse model of mucopolysaccharidosis type IIIA. (19170061)
2009
25
Chronic diarrhea in mucopolysaccharidosis IIIB. (19516195)
2009
26
Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. (18443291)
2008
27
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. (18509511)
2008
28
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. (18218046)
2008
29
Primary culture of neural cells isolated from the cerebellum of newborn and adult mucopolysaccharidosis type IIIA mice. (18297392)
2008
30
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). (17938166)
2007
31
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. (17460717)
2007
32
Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. (17139681)
2007
33
Lentiviral-mediated gene correction of mucopolysaccharidosis type IIIA. (17227588)
2007
34
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. (17397050)
2007
35
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. (15649123)
2005
36
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). (16151907)
2005
37
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. (15308126)
2004
38
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6- sulfatase. (12573255)
2003
39
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. (12842096)
2003
40
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). (11836372)
2002
41
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. (12202988)
2002
42
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). (12000360)
2002
43
Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. (11829484)
2002
44
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. (11414757)
2001
45
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. (11068184)
2000
46
Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics. (9600207)
1998
47
The ultrastructure of skin from a patient with mucopolysaccharidosis IIID. (9039471)
1997
48
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). (9401012)
1997
49
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele. (1606713)
1992
50
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree. (3142713)
1988

Genetic Variations for Mucopolysaccharidosis Ii

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mucopolysaccharidosis Ii:

63 (show all 126)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG
See all sources

Compounds for genes affiliated with Mucopolysaccharidosis Ii

Sources:
45Novoseek, 24HMDB
See all sources

Compounds related to Mucopolysaccharidosis Ii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate45 2410.3IDS, HGSNAT

GO Terms for genes affiliated with Mucopolysaccharidosis Ii

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Ii

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet