MCID: MCP020
MIFTS: 31

Mucopolysaccharidosis Type Iiic malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Oral diseases, Immune diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis Type Iiic

About this section

Aliases & Descriptions for Mucopolysaccharidosis Type Iiic:

Name: Mucopolysaccharidosis Type Iiic 50 46 23 52 68 12
Mps Iiic 46 23 68
Sanfilippo Syndrome Type C 23 52
Sanfilippo Syndrome C 46 68
Mps3c 52 68
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 68
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 46
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 52
Heparan-Alpha-Glucosaminide N-Acetyltransferase 12
 
Mucopolysaccharidosis, Type Iiic 50
Mucopoly-Saccharidosis Type 3c 46
Mucopolysaccharidosis Type 3c 52
Mucopolysaccharidosis 3c 68
Hgsnat Deficiency 52
Mps Iii C 66
Mpsiiic 52
Mps 3c 46

Characteristics:

Orphanet epidemiological data:

52
mucopolysaccharidosis type iiic:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Netherlands),1-9/1000000 (Portugal),<1/1000000 (Australia),1-9/1000000 (Czech Republic),1-9/100000 (Europe),1-9/1000000 (Sweden); Age of onset: Childhood

HPO:

62
mucopolysaccharidosis type iiic:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 252930
Orphanet52 ORPHA79271
ICD10 via Orphanet29 E76.2
MedGen35 C0086649
MeSH37 D009084

Summaries for Mucopolysaccharidosis Type Iiic

About this section
NIH Rare Diseases:46 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 mps iiic, is related to mucopolysaccharidosis iii and renal cell carcinoma, papillary, and has symptoms including diarrhea, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase). Affiliated tissues include eye, bone and skin.

OMIM:50 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan... (252930) more...

UniProtKB/Swiss-Prot:68 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

About this section

Graphical network of diseases related to Mucopolysaccharidosis Type Iiic:



Diseases related to mucopolysaccharidosis type iiic

Symptoms for Mucopolysaccharidosis Type Iiic

About this section

Symptoms by clinical synopsis from OMIM:

252930

Clinical features from OMIM:

252930

HPO human phenotypes related to Mucopolysaccharidosis Type Iiic:

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

UMLS symptoms related to Mucopolysaccharidosis Type Iiic:


diarrhea, seizures, joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis Type Iiic

About this section

Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarker for Sanfilippo DiseaseRecruitingNCT02298686

Search NIH Clinical Center for Mucopolysaccharidosis Type Iiic

Genetic Tests for Mucopolysaccharidosis Type Iiic

About this section

Genetic tests related to Mucopolysaccharidosis Type Iiic:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiic23 HGSNAT

Anatomical Context for Mucopolysaccharidosis Type Iiic

About this section

MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

34
Eye, Bone, Skin

Animal Models for Mucopolysaccharidosis Type Iiic or affiliated genes

About this section

Publications for Mucopolysaccharidosis Type Iiic

About this section

Articles related to Mucopolysaccharidosis Type Iiic:

idTitleAuthorsYear
1
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. (27491071)
2016
2
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). (25859010)
2015
3
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients. (16783568)
2006
4
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. (12842096)
2003
5
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree. (3142713)
1988

Variations for Mucopolysaccharidosis Type Iiic

About this section

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

68 (show all 23)
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
20HGSNATp.Ala82ValVAR_075812
21HGSNATp.Leu141ProVAR_075813
22HGSNATp.Gly452ValVAR_075816
23HGSNATp.Leu473ProVAR_075817

Clinvar genetic disease variations for Mucopolysaccharidosis Type Iiic:

5 (show all 13)
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
11HGSNATNM_152419.2(HGSNAT): c.1209G> Tsingle nucleotide variantPathogenicrs764206492GRCh37Chr 8, 43046697: 43046697
12HGSNATNM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp)single nucleotide variantPathogenicrs370717845GRCh38Chr 8, 43161462: 43161462
13HGSNATNM_152419.2(HGSNAT): c.234+1G> Asingle nucleotide variantPathogenicrs483352908GRCh37Chr 8, 43002207: 43002207

Expression for genes affiliated with Mucopolysaccharidosis Type Iiic

About this section
Search GEO for disease gene expression data for Mucopolysaccharidosis Type Iiic.

Pathways for genes affiliated with Mucopolysaccharidosis Type Iiic

About this section

GO Terms for genes affiliated with Mucopolysaccharidosis Type Iiic

About this section

Sources for Mucopolysaccharidosis Type Iiic

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet