MPS3C
MCID: MCP020
MIFTS: 30

Mucopolysaccharidosis Type Iiic (MPS3C) 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

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Aliases & Descriptions for Mucopolysaccharidosis Type Iiic:

Name: Mucopolysaccharidosis Type Iiic 52 48 24 54 70 12
Sanfilippo Syndrome Type C 48 24 54
Mps Iiic 48 24 70
Mps3c 48 54 70
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 48 54
Mucopolysaccharidosis Type 3c 48 54
Sanfilippo Syndrome C 48 70
Hgsnat Deficiency 48 54
Mpsiiic 48 54
 
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 48
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 70
Heparan-Alpha-Glucosaminide N-Acetyltransferase 12
Mucopolysaccharidosis, Type Iiic 52
Mucopoly-Saccharidosis Type 3c 48
Mucopolysaccharidosis 3c 70
Mps Iii C 68
Mps 3c 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
mucopolysaccharidosis type iiic:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 252930
Orphanet54 ORPHA79271
ICD10 via Orphanet31 E76.2
MedGen37 C0086649
MeSH39 D009084

Summaries for Mucopolysaccharidosis Type Iiic

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NIH Rare Diseases:48 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 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:52 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan... (252930) more...

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Mucopolysaccharidosis Type Iiic

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Symptoms by clinical synopsis from OMIM:

252930

Clinical features from OMIM:

252930

Human phenotypes related to Mucopolysaccharidosis Type Iiic:

 64 (show all 31)
id Description HPO Frequency HPO Source Accession
1 everted lower lip vermilion64 HP:0000232
2 dense calvaria64 HP:0000250
3 dolichocephaly64 HP:0000268
4 coarse facial features64 HP:0000280
5 hearing impairment64 HP:0000365
6 rod-cone dystrophy64 HP:0000510
7 synophrys64 HP:0000664
8 hyperactivity64 HP:0000752
9 thickened ribs64 HP:0000900
10 dysostosis multiplex64 HP:0000943
11 hirsutism64 HP:0001007
12 intellectual disability64 HP:0001249
13 seizures64 HP:0001250
14 motor delay64 HP:0001270
15 joint stiffness64 HP:0001387
16 growth abnormality64 HP:0001507
17 asymmetric septal hypertrophy64 HP:0001670
18 splenomegaly64 HP:0001744
19 diarrhea64 HP:0002014
20 dysphagia64 HP:0002015
21 heparan sulfate excretion in urine64 HP:0002159
22 coarse hair64 HP:0002208
23 hepatomegaly64 HP:0002240
24 motor deterioration64 HP:0002333
25 sleep disturbance64 HP:0002360
26 loss of speech64 HP:0002371
27 kyphoscoliosis64 HP:0002751
28 recurrent upper respiratory tract infections64 HP:0002788
29 ovoid thoracolumbar vertebrae64 HP:0003309
30 cellular metachromasia64 HP:0003653
31 hernia64 HP:0100790

UMLS symptoms related to Mucopolysaccharidosis Type Iiic:


diarrhea, seizures, joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis Type Iiic

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Biomarker for Sanfilippo DiseaseRecruitingNCT02298686

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 Iiic24 HGSNAT

Anatomical Context for Mucopolysaccharidosis Type Iiic

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

36
Eye, Bone, Skin

Publications for Mucopolysaccharidosis Type Iiic

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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

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

70 (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.848C> T (p.Pro283Leu)SNVPathogenicrs121908282GRCh37Chr 8, 43028883: 43028883
3HGSNATNM_ 152419.2(HGSNAT): c.962T> G (p.Leu321Ter)SNVPathogenicrs121908283GRCh37Chr 8, 43033327: 43033327
4HGSNATNM_ 152419.2(HGSNAT): c.1445T> A (p.Met482Lys)SNVPathogenicrs121908284GRCh37Chr 8, 43048967: 43048967
5HGSNATNM_ 152419.2(HGSNAT): c.525dupT (p.Val176Cysfs)duplicationPathogenicrs483352895GRCh37Chr 8, 43016612: 43016612
6HGSNATNM_ 152419.2(HGSNAT): c.372-2A> GSNVPathogenicrs483352896GRCh37Chr 8, 43014064: 43014064
7HGSNATNM_ 152419.2(HGSNAT): c.1030C> T (p.Arg344Cys)SNVPathogenicrs121908285GRCh37Chr 8, 43037305: 43037305
8HGSNATNM_ 152419.2(HGSNAT): c.1553C> T (p.Ser518Phe)SNVPathogenicrs121908286GRCh37Chr 8, 43052825: 43052825
9HGSNATNM_ 152419.2(HGSNAT): c.1209G> T (p.Trp403Cys)SNVPathogenicrs764206492GRCh37Chr 8, 43046697: 43046697
10HGSNATNM_ 152419.2(HGSNAT): c.518G> A (p.Gly173Asp)SNVPathogenicrs370717845GRCh37Chr 8, 43016605: 43016605
11HGSNATNM_ 152419.2(HGSNAT): c.234+1G> ASNVPathogenicrs483352908GRCh37Chr 8, 43002207: 43002207
12HGSNATNM_ 152419.2(HGSNAT): c.1360C> T (p.Gln454Ter)SNVPathogenicrs1057518644GRCh38Chr 8, 43192413: 43192413
13HGSNATNM_ 152419.2(HGSNAT): c.836A> C (p.Asp279Ala)SNVLikely pathogenicGRCh37Chr 8, 43028871: 43028871

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet