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, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis Type Iiic

About this section

Aliases & Descriptions for Mucopolysaccharidosis Type Iiic:

Name: Mucopolysaccharidosis Type Iiic 51 47 24 53 69 12
Sanfilippo Syndrome Type C 47 24 53
Mps Iiic 47 24 69
Mps3c 47 53 69
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 47 53
Mucopolysaccharidosis Type 3c 47 53
Sanfilippo Syndrome C 47 69
Hgsnat Deficiency 47 53
Mpsiiic 47 53
 
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 47
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 69
Heparan-Alpha-Glucosaminide N-Acetyltransferase 12
Mucopolysaccharidosis, Type Iiic 51
Mucopoly-Saccharidosis Type 3c 47
Mucopolysaccharidosis 3c 69
Mps Iii C 67
Mps 3c 47

Characteristics:

Orphanet epidemiological data:

53
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:

63
mucopolysaccharidosis type iiic:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 252930
Orphanet53 ORPHA79271
ICD10 via Orphanet30 E76.2
MedGen36 C0086649
MeSH38 D009084

Summaries for Mucopolysaccharidosis Type Iiic

About this section
NIH Rare Diseases:47 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 type c, is related to mucopolysaccharidosis iii and mucopolysaccharidosis, and has symptoms including everted lower lip vermilion, dense calvaria and dolichocephaly. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase). Affiliated tissues include eye, bone and skin.

OMIM:51 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan... (252930) more...

UniProtKB/Swiss-Prot:69 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

Symptoms for Mucopolysaccharidosis Type Iiic

About this section

Symptoms by clinical synopsis from OMIM:

252930

Clinical features from OMIM:

252930

Human phenotypes related to Mucopolysaccharidosis Type Iiic:

 63 (show all 31)
id Description HPO Frequency HPO Source Accession
1 everted lower lip vermilion63 HP:0000232
2 dense calvaria63 HP:0000250
3 dolichocephaly63 HP:0000268
4 coarse facial features63 HP:0000280
5 hearing impairment63 HP:0000365
6 rod-cone dystrophy63 HP:0000510
7 synophrys63 HP:0000664
8 hyperactivity63 HP:0000752
9 thickened ribs63 HP:0000900
10 dysostosis multiplex63 HP:0000943
11 hirsutism63 HP:0001007
12 intellectual disability63 HP:0001249
13 seizures63 HP:0001250
14 motor delay63 HP:0001270
15 joint stiffness63 HP:0001387
16 growth abnormality63 HP:0001507
17 asymmetric septal hypertrophy63 HP:0001670
18 splenomegaly63 HP:0001744
19 diarrhea63 HP:0002014
20 dysphagia63 HP:0002015
21 heparan sulfate excretion in urine63 HP:0002159
22 coarse hair63 HP:0002208
23 hepatomegaly63 HP:0002240
24 motor deterioration63 HP:0002333
25 sleep disturbance63 HP:0002360
26 loss of speech63 HP:0002371
27 kyphoscoliosis63 HP:0002751
28 recurrent upper respiratory tract infections63 HP:0002788
29 ovoid thoracolumbar vertebrae63 HP:0003309
30 cellular metachromasia63 HP:0003653
31 hernia63 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 Iiic24 HGSNAT

Anatomical Context for Mucopolysaccharidosis Type Iiic

About this section

MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

35
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
KlA1ver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). (27827379)
2017
2
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. (27491071)
2016
3
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). (25859010)
2015
4
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients. (16783568)
2006
5
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. (12842096)
2003
6
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:

69 (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> ASNVPathogenicrs193066451GRCh37Chr 8, 43014188: 43014188
2HGSNATNM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs)duplicationPathogenicrs483352894GRCh37Chr 8, 43047541: 43047541
3HGSNATNM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu)SNVPathogenicrs121908282GRCh37Chr 8, 43028883: 43028883
4HGSNATNM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter)SNVPathogenicrs121908283GRCh37Chr 8, 43033327: 43033327
5HGSNATNM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys)SNVPathogenicrs121908284GRCh37Chr 8, 43048967: 43048967
6HGSNATNM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs)duplicationPathogenicrs483352895GRCh37Chr 8, 43016612: 43016612
7HGSNATNM_152419.2(HGSNAT): c.372-2A> GSNVPathogenicrs483352896GRCh37Chr 8, 43014064: 43014064
8HGSNATNM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys)SNVPathogenicrs121908285GRCh37Chr 8, 43037305: 43037305
9HGSNATNM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe)SNVPathogenicrs121908286GRCh37Chr 8, 43052825: 43052825
10HGSNATNM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr)SNVPathogenicrs112029032GRCh38Chr 8, 43199504: 43199504
11HGSNATNM_152419.2(HGSNAT): c.1209G> T (p.Trp403Cys)SNVPathogenicrs764206492GRCh37Chr 8, 43046697: 43046697
12HGSNATNM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp)SNVPathogenicrs370717845GRCh37Chr 8, 43016605: 43016605
13HGSNATNM_152419.2(HGSNAT): c.234+1G> ASNVPathogenicrs483352908GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet