MCID: MCP001
MIFTS: 59

Mucopolysaccharidosis Iii malady

Neuronal, Eye, Bone, Metabolic, Fetal categories

Summaries for Mucopolysaccharidosis Iii

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 ii and mucopolysaccharidosis type iiid, and has symptoms including chronic/relapsing otitis, hirsutism/hypertrichosis/increased body hair and coarse/thick hair. 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 bone marrow, whole blood and brain.

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

Description from OMIM:47 252900,252930,252920,252940

Aliases & Classifications for Mucopolysaccharidosis Iii

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 31LifeMap Discovery™, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 31 61
mucopolysaccharidosis type iiib 8 9 43 20 47
mucopolysaccharidosis type iiia 8 43 20
mucopolysaccharidosis type iii 43 21 49
sanfilippo syndrome 43 22 21
n-acetyl-alpha-d-glucosaminidase deficiency 8 43
heparan sulfate sulfatase deficiency 8 43
mucopolysaccharidosis, mps-iii-b 8 22
sanfilippo syndrome a 8 43
sanfilippo syndrome b 8 43
mps iii b 45 61
mps iiia 43 45
mps iii 21 49
n-sulphoglucosamine sulphohydrolase deficiency 8
n-acetyl-alpha-glucosaminidase deficiency 49
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 43
mucopolysaccharidosis, mps-iii 8
mucopoly-saccharidosis type 3b 43
mucopolysaccharidosis type 3b 49
mucopoly-saccharidosis type 3 43
mucopolysaccharidosis type 3 49
sanfilippo syndrome type b 49
sanfilippo's syndrome 8
sanfilippos syndrome 45
sanfilippo disease 49
naglu deficiency 8
mps iii a 61
mps iiib 43
mps 3b 43
mps 3a 43


External Ids:

Disease Ontology8 DOID:12801
MeSH35 D009084
NCIt40 C61262
MESH via Orphanet36 D009084
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet58 59990008, 88393000
UMLS via Orphanet62 C0026706, C0086648

Related Diseases for Mucopolysaccharidosis Iii

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to mucopolysaccharidosis iii

Clinical Features for Mucopolysaccharidosis Iii

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

252900,252930,252920,252940

Clinical synopsis from OMIM:

252920

Symptoms:

49 (show all 31)
  • chronic/relapsing otitis
  • 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
  • abnormal vertebral size/shape
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • genu valgum
  • storage liver disease
  • larynx/laryngeal palsy
  • ataxia/incoordination/trouble of the equilibrium
  • 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

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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

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

Sources:
20GeneTests, 22GTR
See all sources

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

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

Animal Models for Mucopolysaccharidosis Iii or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mucopolysaccharidosis Iii

Sources:
51PubMed
See all sources

Articles related to Mucopolysaccharidosis Iii:

(show top 50)    (show all 91)
idTitleAuthorsYear
1
A novel mutation (c.200T&gt;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 Iii

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Mucopolysaccharidosis Iii:

63 (show all 67)
id Symbol AA change Variation 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

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

Sources:
30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Mucopolysaccharidosis Iii

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB
See all sources

Compounds related to Mucopolysaccharidosis Iii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1lithium45 50 11 2412.6NAGLU, HSD17B13
2glycosaminoglycan459.0SGSH, NAGLU, XYLT2
3heparan sulfate45 249.8SGSH, NAGLU, XYLT2, HGSNAT

GO Terms for genes affiliated with Mucopolysaccharidosis Iii

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Iii

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