MCID: MCP020
MIFTS: 29

Mucopolysaccharidosis Type Iiic malady

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

Summaries for Mucopolysaccharidosis Type Iiic

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Mucopolysaccharidosis type iiic (mps iiic) is an 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 iiic results from the missing or altered enzyme acetyl-coalpha-glucosaminide acetyltransferase. this condition is inherited in an autosomal recessive manner. there is no specific treatment. most people with mps iiic live into their teenage years; some live longer. last updated: 4/14/2010

MalaCards: Mucopolysaccharidosis Type Iiic, also known as acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency, is related to mucopolysaccharidosis and d-2-hydroxyglutaric aciduria. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase). Affiliated tissues include eye and bone.

Description from OMIM:46 252930

Aliases & Classifications for Mucopolysaccharidosis Type Iiic

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48

Aliases & Descriptions:

mucopolysaccharidosis type iiic 42 20 46
acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency 42
heparan-alpha-glucosaminide n-acetyltransferase deficiency 48
mucopoly-saccharidosis type 3c 42
mucopolysaccharidosis type 3c 48
sanfilippo syndrome type c 48
sanfilippo syndrome c 42
hgsnat deficiency 48
mps iiic 42
mps 3c 42


External Ids:

OMIM46 252930
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet57 75238000

Related Diseases for Mucopolysaccharidosis Type Iiic

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17GeneCards, 18GeneDecks
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Diseases in the Mucopolysaccharidosis Iv family:

Mucopolysaccharidosis Vi Mucopolysaccharidosis I
Mucopolysaccharidosis Iii Mucopolysaccharidosis Ii
Mucopolysaccharidosis Ix Mucopolysaccharidosis
mucopolysaccharidosis type iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis Ih

Diseases related to Mucopolysaccharidosis Type Iiic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis10.5
2d-2-hydroxyglutaric aciduria10.2
3n syndrome10.2
4mucopolysaccharidosis iii10.2

Clinical Features for Mucopolysaccharidosis Type Iiic

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46OMIM
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Clinical features from OMIM:

252930

Clinical synopsis from OMIM:

252930

Drugs & Therapeutics for Mucopolysaccharidosis Type Iiic

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mucopolysaccharidosis Type Iiic

Drug clinical trials:

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Search NIH Clinical Center for Mucopolysaccharidosis Type Iiic

Search CenterWatch for Mucopolysaccharidosis Type Iiic

Genetic Tests for Mucopolysaccharidosis Type Iiic

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20GeneTests
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Genetic tests related to Mucopolysaccharidosis Type Iiic:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiic20 HGSNAT

Anatomical Context for Mucopolysaccharidosis Type Iiic

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32MalaCards
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MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

32
Eye, Bone

Animal Models for Mucopolysaccharidosis Type Iiic or affiliated genes

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Publications for Mucopolysaccharidosis Type Iiic

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Genetic Variations for Mucopolysaccharidosis Type Iiic

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

62 (show all 19)
id Symbol AA change Variation ID SNP ID
1HGSNATp.Pro311LeuVAR_030083
2HGSNATp.Arg372CysVAR_030084
3HGSNATp.Gly452SerVAR_030085
4HGSNATp.Glu499LysVAR_030086
5HGSNATp.Met510LysVAR_030087
6HGSNATp.Ser569LeuVAR_030088
7HGSNATp.Asp590ValVAR_030089
8HGSNATp.Pro599LeuVAR_030090
9HGSNATp.Cys104PheVAR_063983
10HGSNATp.Leu165ProVAR_063984
11HGSNATp.Ile280ArgVAR_063986
12HGSNATp.Gly290ArgVAR_063987
13HGSNATp.Asn301LysVAR_063988
14HGSNATp.Arg372HisVAR_063989
15HGSNATp.Trp431CysVAR_063990
16HGSNATp.Gly514GluVAR_063992
17HGSNATp.Ala517GluVAR_063993
18HGSNATp.Ser546PheVAR_063994
19HGSNATp.Ser567CysVAR_063996

Expression for genes affiliated with Mucopolysaccharidosis Type Iiic

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

Search GEO for disease gene expression data for Mucopolysaccharidosis Type Iiic.

Pathways for genes affiliated with Mucopolysaccharidosis Type Iiic

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Compounds for genes affiliated with Mucopolysaccharidosis Type Iiic

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GO Terms for genes affiliated with Mucopolysaccharidosis Type Iiic

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Products for genes affiliated with Mucopolysaccharidosis Type Iiic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mucopolysaccharidosis Type Iiic

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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