MCID: MCP020
MIFTS: 29

Mucopolysaccharidosis Type Iiic malady

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

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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 based summary: Mucopolysaccharidosis Type Iiic, also known as sanfilippo syndrome c, is related to mucopolysaccharidosis and mucopolysaccharidosis iii, and has symptoms including 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:46 252930

Aliases & Classifications for Mucopolysaccharidosis Type Iiic

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Sources:
42NIH Rare Diseases, 20GeneTests, 46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
See all sources

Mucopolysaccharidosis Type Iiic, Aliases & Descriptions:

Name: Mucopolysaccharidosis Type Iiic 42 20 46 48 62
Sanfilippo Syndrome C 42 62
Mps Iiic 42 62
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
Hgsnat Deficiency 48
Mps 3c 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
mucopolysaccharidosis type iiic:
Inheritance: Autosomal recessive


External Ids:

OMIM46 252930
ICD10 via Orphanet26 E76.2

Related Diseases for Mucopolysaccharidosis Type Iiic

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Diseases in the Mucopolysaccharidosis I family:

Mucopolysaccharidosis Ii Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iv Mucopolysaccharidosis Vi
Mucopolysaccharidosis Ix Mucopolysaccharidosis
mucopolysaccharidosis type iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s

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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Symptoms by clinical synopsis from OMIM:

252930

Clinical features from OMIM:

252930

HPO human phenotypes related to Mucopolysaccharidosis Type Iiic:

(show all 33)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 everted lower lip vermilion HP:0000232
3 dense calvaria HP:0000250
4 dolichocephaly HP:0000268
5 coarse facial features HP:0000280
6 hearing impairment HP:0000365
7 retinitis pigmentosa HP:0000510
8 synophrys HP:0000664
9 hyperactivity HP:0000752
10 thickened ribs HP:0000900
11 dysostosis multiplex HP:0000943
12 hirsutism HP:0001007
13 intellectual disability HP:0001249
14 seizures HP:0001250
15 motor delay HP:0001270
16 joint stiffness HP:0001387
17 growth abnormality HP:0001507
18 asymmetric septal hypertrophy HP:0001670
19 splenomegaly HP:0001744
20 diarrhea HP:0002014
21 dysphagia HP:0002015
22 heparan sulfate excretion in urine HP:0002159
23 coarse hair HP:0002208
24 hepatomegaly HP:0002240
25 motor deterioration HP:0002333
26 sleep disturbance HP:0002360
27 loss of speech HP:0002371
28 kyphoscoliosis HP:0002751
29 recurrent upper respiratory tract infections HP:0002788
30 ovoid thoracolumbar vertebrae HP:0003309
31 cellular metachromasia HP:0003653
32 variable expressivity HP:0003828
33 hernia HP:0100790

Drugs & Therapeutics for Mucopolysaccharidosis Type Iiic

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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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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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MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

32
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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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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet