MCID: MCP020
MIFTS: 33

Mucopolysaccharidosis Type Iiic malady

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

Aliases & Classifications for Mucopolysaccharidosis Type Iiic

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Aliases & Descriptions for Mucopolysaccharidosis Type Iiic:

Name: Mucopolysaccharidosis Type Iiic 49 11 45 22 51 67
Sanfilippo Syndrome C 45 22 67
Mps Iiic 45 22 67
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 67
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 45
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 51
Mucopoly-Saccharidosis Type 3c 45
 
Mucopolysaccharidosis Type 3c 51
Sanfilippo Syndrome Type C 51
Mucopolysaccharidosis 3c 67
Hgsnat Deficiency 51
Mps Iii C 65
Mps 3c 45
Mps3c 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
mucopolysaccharidosis type iiic:
Inheritance: Autosomal recessive


External Ids:

OMIM49 252930
Orphanet51 79271
ICD10 via Orphanet28 E76.2
MedGen34 C0086649
MeSH36 D009084

Summaries for Mucopolysaccharidosis Type Iiic

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NIH Rare Diseases:45 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 autosomal recessive inheritance, everted lower lip vermilion and dense calvaria. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase). Affiliated tissues include skin, bone and eye.

OMIM:49 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan... (252930) more...

UniProtKB/Swiss-Prot:67 Mucopolysaccharidosis 3C: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Related Diseases for Mucopolysaccharidosis Type Iiic

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Graphical network of diseases related to Mucopolysaccharidosis Type Iiic:



Diseases related to mucopolysaccharidosis type iiic

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 rod-cone dystrophy 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Intracerebral Gene Therapy for Sanfilippo Type A SyndromeCompletedNCT01474343Phase 1, Phase 2
2Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene TherapyActive, not recruitingNCT02053064Phase 1, Phase 2
3Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA DiseaseActive, not recruitingNCT02060526Phase 2
4Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)CompletedNCT01509768
5Natural History Studies of Mucopolysaccharidosis IIICompletedNCT02037880
6Biomarker for Sanfilippo DiseaseRecruitingNCT02298686
7A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)RecruitingNCT02493998
8Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool ChildrenRecruitingNCT01938014

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 Iiic22 HGSNAT

Anatomical Context for Mucopolysaccharidosis Type Iiic

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

33
Skin, Bone, Eye

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
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). (25859010)
2015
2
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients. (16783568)
2006
3
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. (12842096)
2003
4
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:

67 (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:

5 (show all 12)
id Gene Variation 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, 43047541: 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.1843G> A (p.Ala615Thr)single nucleotide variantPathogenicrs112029032GRCh38Chr 8, 43199504: 43199504
11HGSNATHGSNAT, TRP403CYSundetermined variantPathogenic
12HGSNATNM_152419.2(HGSNAT): c.234+1G> Asingle nucleotide variantPathogenicrs483352908GRCh37Chr 8, 43002207: 43002207

Expression for genes affiliated with Mucopolysaccharidosis Type Iiic

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

Pathways for genes affiliated with Mucopolysaccharidosis Type Iiic

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GO Terms for genes affiliated with Mucopolysaccharidosis Type Iiic

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Sources for Mucopolysaccharidosis Type Iiic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet