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

Aliases & Descriptions for Mucopolysaccharidosis Type Iiic:

Name: Mucopolysaccharidosis Type Iiic 54 50 24 56 66 13
Sanfilippo Syndrome Type C 50 24 56
Mps Iiic 50 24 66
Mps3c 50 56 66
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 50 56
Mucopolysaccharidosis Type 3c 50 56
Sanfilippo Syndrome C 50 66
Hgsnat Deficiency 50 56
Mpsiiic 50 56
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 50
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 66
Heparan-Alpha-Glucosaminide N-Acetyltransferase 13
Mucopolysaccharidosis, Type Iiic 54
Mucopoly-Saccharidosis Type 3c 50
Mucopolysaccharidosis 3c 66
Mps Iii C 69
Mps 3c 50

Characteristics:

Orphanet epidemiological data:

56
sanfilippo syndrome type c
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:

32
mucopolysaccharidosis type iiic:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 252930
Orphanet 56 ORPHA79271
ICD10 via Orphanet 34 E76.2
MedGen 40 C0086649
MeSH 42 D009084

Summaries for Mucopolysaccharidosis Type Iiic

NIH Rare Diseases : 50 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 seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase). Affiliated tissues include bone, eye and skin.

OMIM : 54 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan... (252930) more...

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Mucopolysaccharidosis Type Iiic:



Diseases related to Mucopolysaccharidosis Type Iiic

Symptoms & Phenotypes for Mucopolysaccharidosis Type Iiic

Symptoms by clinical synopsis from OMIM:

252930

Clinical features from OMIM:

252930

Human phenotypes related to Mucopolysaccharidosis Type Iiic:

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

UMLS symptoms related to Mucopolysaccharidosis Type Iiic:


diarrhea, seizures, joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis Type Iiic

Interventional clinical trials:


id Name Status NCT ID Phase
1 Biomarker for Sanfilippo Disease Recruiting NCT02298686

Search NIH Clinical Center for Mucopolysaccharidosis Type Iiic

Genetic Tests for Mucopolysaccharidosis Type Iiic

Genetic tests related to Mucopolysaccharidosis Type Iiic:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiic 24 HGSNAT

Anatomical Context for Mucopolysaccharidosis Type Iiic

MalaCards organs/tissues related to Mucopolysaccharidosis Type Iiic:

39
Bone, Eye, Skin

Publications for Mucopolysaccharidosis Type Iiic

Articles related to Mucopolysaccharidosis Type Iiic:

id Title Authors Year
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

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

66 (show all 23)
id Symbol AA change Variation ID SNP ID
1 HGSNAT p.Pro311Leu VAR_030083
2 HGSNAT p.Arg372Cys VAR_030084
3 HGSNAT p.Gly452Ser VAR_030085
4 HGSNAT p.Glu499Lys VAR_030086
5 HGSNAT p.Met510Lys VAR_030087
6 HGSNAT p.Ser569Leu VAR_030088
7 HGSNAT p.Asp590Val VAR_030089
8 HGSNAT p.Pro599Leu VAR_030090
9 HGSNAT p.Cys104Phe VAR_063983
10 HGSNAT p.Leu165Pro VAR_063984
11 HGSNAT p.Ile280Arg VAR_063986
12 HGSNAT p.Gly290Arg VAR_063987
13 HGSNAT p.Asn301Lys VAR_063988
14 HGSNAT p.Arg372His VAR_063989
15 HGSNAT p.Trp431Cys VAR_063990
16 HGSNAT p.Gly514Glu VAR_063992
17 HGSNAT p.Ala517Glu VAR_063993
18 HGSNAT p.Ser546Phe VAR_063994
19 HGSNAT p.Ser567Cys VAR_063996
20 HGSNAT p.Ala82Val VAR_075812
21 HGSNAT p.Leu141Pro VAR_075813
22 HGSNAT p.Gly452Val VAR_075816
23 HGSNAT p.Leu473Pro VAR_075817

ClinVar genetic disease variations for Mucopolysaccharidosis Type Iiic:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.493+1G> A single nucleotide variant Pathogenic rs193066451 GRCh37 Chromosome 8, 43014188: 43014188
2 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
3 HGSNAT NM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter) single nucleotide variant Pathogenic rs121908283 GRCh37 Chromosome 8, 43033327: 43033327
4 HGSNAT NM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys) single nucleotide variant Pathogenic rs121908284 GRCh37 Chromosome 8, 43048967: 43048967
5 HGSNAT NM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs) duplication Pathogenic rs483352895 GRCh37 Chromosome 8, 43016612: 43016612
6 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh37 Chromosome 8, 43014064: 43014064
7 HGSNAT NM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys) single nucleotide variant Pathogenic rs121908285 GRCh37 Chromosome 8, 43037305: 43037305
8 HGSNAT NM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe) single nucleotide variant Pathogenic rs121908286 GRCh37 Chromosome 8, 43052825: 43052825
9 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh37 Chromosome 8, 43002207: 43002207
10 HGSNAT NM_152419.2(HGSNAT): c.1209G> T (p.Trp403Cys) single nucleotide variant Pathogenic rs764206492 GRCh37 Chromosome 8, 43046697: 43046697
11 HGSNAT NM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs370717845 GRCh37 Chromosome 8, 43016605: 43016605
12 HGSNAT NM_152419.2(HGSNAT): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs1057518644 GRCh38 Chromosome 8, 43192413: 43192413
13 HGSNAT NM_152419.2(HGSNAT): c.836A> C (p.Asp279Ala) single nucleotide variant Likely pathogenic GRCh37 Chromosome 8, 43028871: 43028871

Expression for Mucopolysaccharidosis Type Iiic

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

Pathways for Mucopolysaccharidosis Type Iiic

GO Terms for Mucopolysaccharidosis Type Iiic

Sources for Mucopolysaccharidosis Type Iiic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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