MCID: MCP001
MIFTS: 70

Mucopolysaccharidosis Iii malady

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

Summaries for Mucopolysaccharidosis Iii

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Mucopolysaccharidosis type iiia (mps iiia) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (gags, formerly called mucopolysaccharides). mps iiia is the most severe of the mps iii disorders and children with this condition have the shortest survival rate among those with the mps iii disorders. individuals with this condition are unable to break down a gag called heparan sulfate. affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. mps iiia is caused by the missing or altered enzyme heparan n-sulfatase. mps iiia is inherited in an autosomal recessive manner. there is no specific treatment for this condition. last updated: 4/14/2010

MalaCards: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiib, is related to mucopolysaccharidosis and lysosomal storage disease, and has symptoms including ataxia/incoordination/trouble of the equilibrium, larynx/laryngeal palsy and storage liver disease. An important gene associated with Mucopolysaccharidosis Iii is NAGLU (N-acetylglucosaminidase, alpha), and among its related pathways are Lysosome and MPS IIIC - Sanfilippo syndrome C. The compounds lithium and glycosaminoglycan have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, brain and liver.

Disease Ontology:8 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

Genetics Home Reference:21 Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that mainly affects the brain and spinal cord (central nervous system).

Wikipedia:63 Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...

Description from OMIM:46 252900,252930,252920,252940

Aliases & Classifications for Mucopolysaccharidosis Iii

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Sources:
8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 30LifeMap Discovery™, 60UMLS, 42NIH Rare Diseases, 9diseasecard, 20GeneTests, 46OMIM, 22GTR, 44Novoseek, 48Orphanet, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
mucopolysaccharidosis type iii:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood
n-acetyl-alpha-glucosaminidase deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mucopolysaccharidosis iii 8 21 10 30 60
mucopolysaccharidosis type iiib 8 9 42 20 46
mucopolysaccharidosis type iiia 8 42 20
mucopolysaccharidosis type iii 42 21 48
sanfilippo syndrome 42 22 21
n-acetyl-alpha-d-glucosaminidase deficiency 8 42
heparan sulfate sulfatase deficiency 8 42
mucopolysaccharidosis, mps-iii-b 8 22
sanfilippo syndrome a 8 42
sanfilippo syndrome b 8 42
mps iii b 44 60
mps iiia 42 44
mps iii 21 48
n-sulphoglucosamine sulphohydrolase deficiency 8
n-acetyl-alpha-glucosaminidase deficiency 48
mps iiib - sanfilippo syndrome b 8
mps iiid - sanfilippo syndrome d 8
mps iiic - sanfilippo syndrome c 8
mps iiia - sanfilippo syndrome a 8
mucopoly-saccharidosis type 3a 42
mucopolysaccharidosis, mps-iii 8
mucopoly-saccharidosis type 3b 42
mucopolysaccharidosis type 3b 48
mucopoly-saccharidosis type 3 42
mucopolysaccharidosis type 3 48
sanfilippo syndrome type b 48
sanfilippo's syndrome 8
sanfilippos syndrome 44
sanfilippo disease 48
naglu deficiency 8
mps iii a 60
mps iiib 42
mps 3b 42
mps 3a 42


External Ids:

Disease Ontology8 DOID:12801
MeSH34 D009084
NCIt39 C61262
MESH via Orphanet35 D009084
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet57 59990008, 88393000
UMLS via Orphanet61 C0026706, C0086648

Related Diseases for Mucopolysaccharidosis Iii

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



Diseases related to mucopolysaccharidosis iii

Clinical Features for Mucopolysaccharidosis Iii

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46OMIM, 48Orphanet
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Clinical features from OMIM:

252900,252930,252920,252940

Clinical synopsis from OMIM:

252920

Symptoms:

48 (show all 31)
  • ataxia/incoordination/trouble of the equilibrium
  • larynx/laryngeal palsy
  • storage liver disease
  • genu valgum
  • umbilical hernia
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • restricted joint mobility/joint stiffness/ankylosis
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • inguinal/inguinoscrotal/crural hernia
  • abnormal vertebral size/shape
  • hirsutism/hypertrichosis/increased body hair
  • coarse/thick hair
  • malabsorption/chronic diarrhea/steatorrhea
  • sleep and vigilance disorders
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • mucopolysacchariduria
  • autosomal recessive inheritance
  • early death/lethality
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • corneal clouding/opacity/vascularisation
  • cataract/lens opacification
  • myopia
  • hearing loss/hypoacusia/deafness
  • clavicle absent/abnormal
  • anomalies of the ribs
  • scoliosis
  • chronic/relapsing otitis

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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

Search CenterWatch for Mucopolysaccharidosis Iii

Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Iii

Search NIH Clinical Center for Mucopolysaccharidosis Iii

Search CenterWatch for Mucopolysaccharidosis Iii

Cell-based therapeutics:


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

Genetic Tests for Mucopolysaccharidosis Iii

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

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiia20 SGSH
2 Mucopolysaccharidosis Type Iiib20 NAGLU
3 Mucopolysaccharidosis, Mps-Iii-B22
4 Sanfilippo Syndrome22

Anatomical Context for Mucopolysaccharidosis Iii

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32MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

32
Spinal cord, Brain, Liver, Bone, Eye

Animal Models for Mucopolysaccharidosis Iii or affiliated genes

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Publications for Mucopolysaccharidosis Iii

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50PubMed
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Articles related to Mucopolysaccharidosis Iii:

(show all 37)
idTitleAuthorsYear
1
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. (23336697)
2013
2
Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). (24173409)
2013
3
High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, cross-sectional study. (23541797)
2013
4
New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry. (22372747)
2012
5
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). (21689409)
2011
6
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. (21204211)
2011
7
Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study. (21658716)
2011
8
Musculoskeletal manifestations of Sanfilippo Syndrome (mucopolysaccharidosis type III). (21654471)
2011
9
Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies. (21235449)
2011
10
Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. (20337777)
2010
11
Clinical overview of children with mucopolysaccharidosis type III A and effect of Risperidone treatment on children and their mothers psychological status. (19217229)
2010
12
Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. (20130326)
2010
13
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (19823584)
2009
14
Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. (19681008)
2009
15
Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]. (19099774)
2008
16
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. (17185018)
2007
17
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). (16912578)
2006
18
Neurophysiologic assessment of mucopolysaccharidosis III. (16884953)
2006
19
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (15902564)
2005
20
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. (15146460)
2004
21
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. (15083297)
2004
22
Altered corneal stromal matrix organization is associated with mucopolysaccharidosis I, III and VI. (10328965)
1999
23
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome). (10561464)
1999
24
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (10094189)
1999
25
Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases. (9386279)
1997
26
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (8776591)
1996
27
Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A). (8821908)
1995
28
Dentistry for the at-risk patient--mucopolysaccharidosis III (Sanfilippo syndrome): a nine-year case study. (2124225)
1990
29
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. (6231143)
1984
30
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. (6411475)
1983
31
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. (6807676)
1982
32
Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. (6800974)
1981
33
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. (108106)
1979
34
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A. (117063)
1979
35
Characterization of glycosaminoglycans stored in mucopolysaccharidosis III A: evidence for a generally occuring degradation of heparan sulfate by endoglycosidases. (411726)
1977
36
Obliterated pulp cavities in the Sanfilippo syndrome (mucopolysaccharidosis III). (404602)
1977
37
Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings. (405006)
1977

Genetic Variations for Mucopolysaccharidosis Iii

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

62 (show all 67)
id Symbol AA change Variation ID SNP ID
1NAGLUp.Tyr92HisVAR_005007
2NAGLUp.Pro115SerVAR_005008
3NAGLUp.Tyr140CysVAR_005009
4NAGLUp.Glu153LysVAR_005010
5NAGLUp.Pro358LeuVAR_005011
6NAGLUp.Arg643HisVAR_005012
7NAGLUp.Ala664ValVAR_005013
8NAGLUp.Arg674HisVAR_005014
9NAGLUp.Leu682ArgVAR_005015
10NAGLUp.Gly79CysVAR_008979
11NAGLUp.His100ArgVAR_008980
12NAGLUp.Pro243LeuVAR_008982
13NAGLUp.Cys277PheVAR_008983
14NAGLUp.Leu280ProVAR_008984
15NAGLUp.Gly292ArgVAR_008985
16NAGLUp.Glu452LysVAR_008986
17NAGLUp.Arg482TrpVAR_008987
18NAGLUp.Leu561ArgVAR_008988
19NAGLUp.Arg565GlnVAR_008989
20NAGLUp.Glu705LysVAR_008990
21NAGLUp.Phe48LeuVAR_025489
22NAGLUp.Phe314LeuVAR_025490
23NAGLUp.Pro521LeuVAR_025491
24NAGLUp.Arg565ProVAR_025492
25NAGLUp.Arg565TrpVAR_025493
26NAGLUp.Arg643CysVAR_025494
27NAGLUp.Leu35PheVAR_054699
28NAGLUp.Arg38TrpVAR_054700
29NAGLUp.Phe48CysVAR_054701
30NAGLUp.Gly69SerVAR_054702
31NAGLUp.Val77GlyVAR_054703
32NAGLUp.Gly79SerVAR_054704
33NAGLUp.Gly82AspVAR_054705
34NAGLUp.Arg130CysVAR_054706
35NAGLUp.Ile154ArgVAR_054707
36NAGLUp.Trp156CysVAR_054708
37NAGLUp.His227ProVAR_054709
38NAGLUp.Arg234CysVAR_054710
39NAGLUp.Val241MetVAR_054711
40NAGLUp.Leu242ProVAR_054712
41NAGLUp.Ala246ProVAR_054713
42NAGLUp.His248ArgVAR_054714
43NAGLUp.Trp268ArgVAR_054715
44NAGLUp.Tyr309CysVAR_054716
45NAGLUp.Val334PheVAR_054717
46NAGLUp.Tyr335CysVAR_054718
47NAGLUp.Phe410SerVAR_054719
48NAGLUp.Gly412GluVAR_054720
49NAGLUp.His414ArgVAR_054721
50NAGLUp.Thr437IleVAR_054722
51NAGLUp.Glu446LysVAR_054723
52NAGLUp.Tyr455CysVAR_054724
53NAGLUp.Trp474GlyVAR_054725
54NAGLUp.Arg482GlnVAR_054726rs200909691
55NAGLUp.Val501GlyVAR_054727
56NAGLUp.Pro516LeuVAR_054728
57NAGLUp.Arg520TrpVAR_054729
58NAGLUp.Ser534TyrVAR_054730
59NAGLUp.Leu560ProVAR_054731
60NAGLUp.Leu591ProVAR_054732
61NAGLUp.Ser612GlyVAR_054733
62NAGLUp.Leu617PheVAR_054734
63NAGLUp.Trp649CysVAR_054735
64NAGLUp.Gly650GluVAR_054736
65NAGLUp.Tyr658PheVAR_054737
66NAGLUp.Arg674CysVAR_054738
67NAGLUp.Arg676ProVAR_054739

Expression for genes affiliated with Mucopolysaccharidosis Iii

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

Search GEO for disease gene expression data for Mucopolysaccharidosis Iii.

Pathways for genes affiliated with Mucopolysaccharidosis Iii

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

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44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Mucopolysaccharidosis Iii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium44 49 11 2412.6NAGLU, HSD17B13
2glycosaminoglycan449.0SGSH, NAGLU, XYLT2
3heparan sulfate44 249.8SGSH, NAGLU, XYLT2, HGSNAT

GO Terms for genes affiliated with Mucopolysaccharidosis Iii

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16Gene Ontology
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Cellular components related to Mucopolysaccharidosis Iii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:0432029.8SGSH, NAGLU

Biological processes related to Mucopolysaccharidosis Iii according to GeneCards/GeneDecks:

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

Products for genes affiliated with Mucopolysaccharidosis Iii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Iii

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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