MCID: MCP020
MIFTS: 28

Mucopolysaccharidosis Type Iiic malady

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

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 mucopolysaccharidosis iii. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase). Affiliated tissues include eye, bone and skin.

Description from OMIM:47 252930

Aliases & Classifications for Mucopolysaccharidosis Type Iiic

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43NIH Rare Diseases, 20GeneTests, 47OMIM, 49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
mucopolysaccharidosis type iiic:
Inheritance: Autosomal recessive


Aliases & Descriptions:

mucopolysaccharidosis type iiic 43 20 47 49
acetyl-coa alpha-glucosaminide n-acetyltransferase deficiency 43
heparan-alpha-glucosaminide n-acetyltransferase deficiency 49
mucopoly-saccharidosis type 3c 43
mucopolysaccharidosis type 3c 49
sanfilippo syndrome type c 49
sanfilippo syndrome c 43
hgsnat deficiency 49
mps iiic 43
mps 3c 43


External Ids:

OMIM47 252930
ICD10 via Orphanet26 E76.2
SNOMED-CT via Orphanet59 75238000

Related Diseases for Mucopolysaccharidosis Type Iiic

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

Mucopolysaccharidosis Ix Mucopolysaccharidosis Vi
Mucopolysaccharidosis Iii Mucopolysaccharidosis I
Mucopolysaccharidosis Ii 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
2mucopolysaccharidosis iii10.3
3d-2-hydroxyglutaric aciduria10.3

Symptoms for Mucopolysaccharidosis Type Iiic

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47OMIM
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Symptoms by clinical synopsis from OMIM:

252930

Clinical features from OMIM:

252930

Drugs & Therapeutics for Mucopolysaccharidosis Type Iiic

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Type Iiic

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

33
Eye, Bone, Skin

Animal Models for Mucopolysaccharidosis Type Iiic or affiliated genes

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Publications for Mucopolysaccharidosis Type Iiic

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52PubMed
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Articles related to Mucopolysaccharidosis Type Iiic:

idTitleAuthorsYear
1
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients. (16783568)
2006
2
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. (12842096)
2003
3
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree. (3142713)
1988

Variations for Mucopolysaccharidosis Type Iiic

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis Type Iiic:

64 (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

Clinvar genetic disease variations for Mucopolysaccharidosis Type Iiic:

1
id Gene Name Type Significance SNP ID Assembly Location
1HGSNATNM_152419.2(HGSNAT): c.493+1G> Asingle nucleotide variantPathogenicrs193066451GRCh37Chr 8, 43014188: 43014188
2HGSNATNM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs)duplicationPathogenicrs483352894GRCh37Chr 8, 43047540: 43047541
3HGSNATNM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu)single nucleotide variantPathogenicrs121908282GRCh37Chr 8, 43028883: 43028883
4HGSNATNM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter)single nucleotide variantPathogenicrs121908283GRCh37Chr 8, 43033327: 43033327
5HGSNATNM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys)single nucleotide variantPathogenicrs121908284GRCh37Chr 8, 43048967: 43048967
6HGSNATNM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs)duplicationPathogenicrs483352895GRCh37Chr 8, 43016612: 43016612
7HGSNATNM_152419.2(HGSNAT): c.372-2A> Gsingle nucleotide variantPathogenicrs483352896GRCh37Chr 8, 43014064: 43014064
8HGSNATNM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys)single nucleotide variantPathogenicrs121908285GRCh37Chr 8, 43037305: 43037305
9HGSNATNM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe)single nucleotide variantPathogenicrs121908286GRCh37Chr 8, 43052825: 43052825
10HGSNATNM_152419.2(HGSNAT): c.234+1G> Asingle nucleotide variantPathogenicrs483352908GRCh37Chr 8, 43002207: 43002207

Expression for genes affiliated with Mucopolysaccharidosis Type Iiic

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2BioGPS, 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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Sources for Mucopolysaccharidosis Type Iiic

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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