MCID: MCP001
MIFTS: 48

Mucopolysaccharidosis Iii malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Skin diseases categories

Aliases & Classifications for Mucopolysaccharidosis Iii

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Mucopolysaccharidosis Iii, Aliases & Descriptions:

Name: Mucopolysaccharidosis Iii 30 9 21 11 60
Mucopolysaccharidosis Type Iiia 9 41 47
Mucopolysaccharidosis Type 3a 41 20 47
Heparan Sulfate Sulfatase Deficiency 9 41
Mucopolysaccharidosis, Mps-Iii-B 9 22
Heparan Sulfamidase Deficiency 41 47
Mucopolysaccharidosis Type Iii 41 21
Sanfilippo Syndrome Type a 41 47
Sanfilippo Syndrome a 9 41
Sanfilippo Syndrome 41 21
Mps Iiia 41 43
N-Sulphoglucosamine Sulphohydrolase Deficiency 9
N-Acetyl-Alpha-D-Glucosaminidase Deficiency 9
Mps Iiia - Sanfilippo Syndrome a 9
Mps Iiic - Sanfilippo Syndrome C 9
 
Mps Iiib - Sanfilippo Syndrome B 9
Mps Iiid - Sanfilippo Syndrome D 9
Mucopolysaccharidosis Type Iiib 9
Mucopoly-Saccharidosis Type 3a 41
Mucopolysaccharidosis, Mps-Iii 9
Mucopoly-Saccharidosis Type 3 41
Sanfilippo Syndrome B 9
Sanfilippo's Syndrome 9
Sanfilippos Syndrome 22
Naglu Deficiency 9
Mps Iii a 60
Mps Iii B 60
Mps Iii 21
Mps 3a 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
mucopolysaccharidosis type iiia:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/100000 (Worldwide)


External Ids:

Disease Ontology9 DOID:12801
NCIt38 C61262
MeSH33 D009084
Orphanet47 79269
ICD10 via Orphanet26 E76.2

Summaries for Mucopolysaccharidosis Iii

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NIH Rare Diseases:41 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 based summary: Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iiia, is related to mucopolysaccharidosis and mucopolysaccharidosis type iiib. An important gene associated with Mucopolysaccharidosis Iii is SGSH (N-sulfoglucosamine sulfohydrolase), 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 brain, spinal cord and bone.

Disease Ontology:9 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...

Related Diseases for Mucopolysaccharidosis Iii

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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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Drugs & Therapeutics for Mucopolysaccharidosis Iii

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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Iii

Search NIH Clinical Center for Mucopolysaccharidosis Iii

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Iii cell therapies at LifeMap Discovery.

Genetic Tests for Mucopolysaccharidosis Iii

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Genetic tests related to Mucopolysaccharidosis Iii:

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

Anatomical Context for Mucopolysaccharidosis Iii

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MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

31
Brain, Spinal cord, Bone, Eye

Animal Models for Mucopolysaccharidosis Iii or affiliated genes

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Publications for Mucopolysaccharidosis Iii

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Articles related to Mucopolysaccharidosis Iii:

(show all 23)
idTitleAuthorsYear
1
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. (25567323)
2015
2
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. (25345095)
2014
3
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. (25127543)
2014
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
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. (19823584)
2009
6
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. (17185018)
2007
7
Neurophysiologic assessment of mucopolysaccharidosis III. (16884953)
2006
8
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. (15902564)
2005
9
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. (15083297)
2004
10
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. (10094189)
1999
11
Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases. (9386279)
1997
12
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). (8776591)
1996
13
Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A). (8821908)
1995
14
Dentistry for the at-risk patient--mucopolysaccharidosis III (Sanfilippo syndrome): a nine-year case study. (2124225)
1990
15
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. (6231143)
1984
16
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. (6411475)
1983
17
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. (6807676)
1982
18
Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. (6800974)
1981
19
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. (108106)
1979
20
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A. (117063)
1979
21
Characterization of glycosaminoglycans stored in mucopolysaccharidosis III A: evidence for a generally occuring degradation of heparan sulfate by endoglycosidases. (411726)
1977
22
Obliterated pulp cavities in the Sanfilippo syndrome (mucopolysaccharidosis III). (404602)
1977
23
Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings. (405006)
1977

Variations for Mucopolysaccharidosis Iii

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Expression for genes affiliated with Mucopolysaccharidosis Iii

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Search GEO for disease gene expression data for Mucopolysaccharidosis Iii.

Pathways for genes affiliated with Mucopolysaccharidosis Iii

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Compounds for genes affiliated with Mucopolysaccharidosis Iii

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Sources:
43Novoseek, 49PharmGKB, 24HMDB, 12DrugBank
See all sources

Compounds related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1glycosaminoglycan439.6NAGLU, SGSH
2lithium43 49 24 1212.1NAGLU, HSD17B13
3heparan sulfate43 2410.0HGSNAT, NAGLU, SGSH

GO Terms for genes affiliated with Mucopolysaccharidosis Iii

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Cellular components related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.6NAGLU, SGSH

Biological processes related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan catabolic processGO:00060279.1HGSNAT, NAGLU, SGSH
2small molecule metabolic processGO:00442819.1HGSNAT, NAGLU, SGSH
3glycosaminoglycan metabolic processGO:00302039.0HGSNAT, SGSH, NAGLU
4carbohydrate metabolic processGO:00059758.8HGSNAT, SGSH, NAGLU

Products for genes affiliated with Mucopolysaccharidosis Iii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mucopolysaccharidosis Iii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet