MCID: MCP001
MIFTS: 64

Mucopolysaccharidosis Iii malady

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

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8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Mucopolysaccharidosis type iii (mps iii) is a genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (gags, formerly called mucopolysaccharides). specifically, people 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 iii is inherited in an autosomal recessive manner. there is no specific treatment for this condition. most people with mps iii live into their teenage years, and some live longer. mps iii is divided into four subtypes, known as a, b, c and d. each subtype is caused by the alteration of a different enzyme needed to completely break down heparan sulfate. the different types of mps iii have similar signs and symptoms, although type a is the most severe.to view the gard pages on the subtypes of mps iii, click on the following links: mucopolysaccharidosis type iiia mucopolysaccharidosis type iiib mucopolysaccharidosis type iiic mucopolysaccharidosis type iiid last updated: 7/7/2011

MalaCards: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiib, is related to mucopolysaccharidosis and lysosomal storage disease, and has symptoms including inguinal/inguinoscrotal/crural hernia, umbilical hernia and genu valgum. An important gene associated with Mucopolysaccharidosis Iii is NAGLU (N-acetylglucosaminidase, alpha), and among its related pathways are MPS VI - Maroteaux-Lamy syndrome and Heparan sulfate/heparin (HS-GAG) metabolism. The compounds glycosaminoglycan and lithium have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and eye.

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

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

Aliases & Classifications for Mucopolysaccharidosis Iii

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 31LifeMap Discovery™, 62UMLS, 43NIH Rare Diseases, 9diseasecard, 20GeneTests, 47OMIM, 49Orphanet, 22GTR, 45Novoseek, 58SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
mucopolysaccharidosis type 3:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood
mucopolysaccharidosis type iiib:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mucopolysaccharidosis iii 8 21 10 31 62
mucopolysaccharidosis type iiib 8 9 43 20 47 49
mucopolysaccharidosis type iiia 8 43 20
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
mucopolysaccharidosis type iii 43 21
sanfilippo syndrome b 8 43
sanfilippo syndrome a 8 43
mps iii b 45 62
mps iiia 43 45
n-sulphoglucosamine sulphohydrolase deficiency 8
n-acetyl-alpha-glucosaminidase deficiency 49
mps iiic - sanfilippo syndrome c 8
mps iiid - sanfilippo syndrome d 8
mps iiia - sanfilippo syndrome a 8
mps iiib - sanfilippo syndrome b 8
mucopoly-saccharidosis type 3a 43
mucopoly-saccharidosis type 3b 43
mucopolysaccharidosis, mps-iii 8
mucopoly-saccharidosis type 3 43
mucopolysaccharidosis type 3b 49
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 62
mps iiib 43
mps iii 21
mps 3a 43
mps 3b 43
mpsiii 49


External Ids:

Disease Ontology8 DOID:12801
MeSH35 D009084
NCIt40 C61262
MESH via Orphanet36 D009084
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet59 59990008, 88393000
UMLS via Orphanet63 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

Symptoms for Mucopolysaccharidosis Iii

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

252920

Clinical features from OMIM:

252920,252940,252900,252930

Symptoms:

49 (show all 31)
  • 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
  • abnormal vertebral size/shape
  • scoliosis
  • 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
  • chronic/relapsing otitis

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Iii

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

33
Liver, Bone, Eye

Animal Models for Mucopolysaccharidosis Iii or affiliated genes

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Publications for Mucopolysaccharidosis Iii

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52PubMed
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Articles related to Mucopolysaccharidosis Iii:

(show all 20)
idTitleAuthorsYear
1
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
2
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (19823584)
2009
3
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. (17185018)
2007
4
Neurophysiologic assessment of mucopolysaccharidosis III. (16884953)
2006
5
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (15902564)
2005
6
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. (15083297)
2004
7
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (10094189)
1999
8
Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases. (9386279)
1997
9
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (8776591)
1996
10
Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A). (8821908)
1995
11
Dentistry for the at-risk patient--mucopolysaccharidosis III (Sanfilippo syndrome): a nine-year case study. (2124225)
1990
12
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. (6231143)
1984
13
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. (6411475)
1983
14
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. (6807676)
1982
15
Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. (6800974)
1981
16
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. (108106)
1979
17
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A. (117063)
1979
18
Characterization of glycosaminoglycans stored in mucopolysaccharidosis III A: evidence for a generally occuring degradation of heparan sulfate by endoglycosidases. (411726)
1977
19
Obliterated pulp cavities in the Sanfilippo syndrome (mucopolysaccharidosis III). (404602)
1977
20
Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings. (405006)
1977

Variations for Mucopolysaccharidosis Iii

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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 Iii:

64 (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

Clinvar genetic disease variations for Mucopolysaccharidosis Iii:

1 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1NAGLUNM_000263.3(NAGLU): c.2021G> A (p.Arg674His)single nucleotide variantPathogenicrs104894590GRCh37Chr 17, 40696045: 40696045
2NAGLUNM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter)single nucleotide variantPathogenicrs104894591GRCh37Chr 17, 40695900: 40695900
3NAGLUNM_000263.3(NAGLU): c.889C> T (p.Arg297Ter)single nucleotide variantPathogenicrs104894592GRCh37Chr 17, 40693092: 40693092
4NAGLUNM_000263.3(NAGLU): c.1928G> A (p.Arg643His)single nucleotide variantPathogenicrs104894593GRCh37Chr 17, 40695952: 40695952
5NAGLUNM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs)deletionPathogenicrs483352897GRCh37Chr 17, 40689535: 40689544
6NAGLUNM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys)single nucleotide variantPathogenicrs104894594GRCh37Chr 17, 40695951: 40695951
7NAGLUNM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu)single nucleotide variantPathogenicrs104894595GRCh37Chr 17, 40695586: 40695586
8NAGLUNM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp)single nucleotide variantPathogenicrs104894597GRCh37Chr 17, 40695717: 40695717
9NAGLUNM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro)single nucleotide variantPathogenicrs104894598GRCh37Chr 17, 40695718: 40695718
10NAGLUNM_000263.3(NAGLU): c.142T> C (p.Phe48Leu)single nucleotide variantPathogenicrs118204024GRCh37Chr 17, 40688432: 40688432
11NAGLUNM_000263.3(NAGLU): c.942C> G (p.Phe314Leu)single nucleotide variantPathogenicrs118204025GRCh37Chr 17, 40693145: 40693145
12NAGLUNM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp)single nucleotide variantPathogenicrs104894596GRCh37Chr 17, 40695468: 40695468
13NAGLUNM_000263.3(NAGLU): c.700C> T (p.Arg234Cys)single nucleotide variantPathogenicrs104894601GRCh37Chr 17, 40690709: 40690709
14NAGLUNM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln)single nucleotide variantPathogenicrs104894598GRCh37Chr 17, 40695718: 40695718

Expression for genes affiliated with Mucopolysaccharidosis Iii

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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Mucopolysaccharidosis Iii

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45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Mucopolysaccharidosis Iii according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan459.6NAGLU, SGSH
2lithium45 51 24 1112.1NAGLU, HSD17B13
3heparan sulfate45 2410.0HGSNAT, NAGLU, SGSH

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:0432029.6NAGLU, SGSH

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

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan catabolic processGO:0060279.1HGSNAT, NAGLU, SGSH
2small molecule metabolic processGO:0442819.1HGSNAT, NAGLU, SGSH
3glycosaminoglycan metabolic processGO:0302039.0HGSNAT, NAGLU, SGSH
4carbohydrate metabolic processGO:0059758.8SGSH, 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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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