MPS3C
MCID: MCP045
MIFTS: 35

Mucopolysaccharidosis, Type Iiic (MPS3C)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Iiic

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiic:

Name: Mucopolysaccharidosis, Type Iiic 57 40
Mucopolysaccharidosis Type Iiic 57 53 59 75 13
Mps3c 57 53 59 75
Sanfilippo Syndrome C 57 53 75
Mps Iiic 57 53 75
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 57 75
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 53 59
Mucopolysaccharidosis Type 3c 53 59
Sanfilippo Syndrome Type C 53 59
Hgsnat Deficiency 53 59
Mpsiiic 53 59
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 53
Heparan-Alpha-Glucosaminide N-Acetyltransferase 13
Mucopoly-Saccharidosis Type 3c 53
Mucopolysaccharidosis 3c 75
Mps Iii-C 76
Mps Iii C 73
Mps 3c 53

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
four clinically indistinguishable biochemically distinct forms
most patients appear unaffected in the first year of life
intellectual regression and loss of speech precede the onset of motor retardation by more than 10 years
mean age of death is 34 years


HPO:

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


Classifications:



Summaries for Mucopolysaccharidosis, Type Iiic

NIH Rare Diseases : 53 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.

MalaCards based summary : Mucopolysaccharidosis, Type Iiic, also known as mucopolysaccharidosis type iiic, is related to n acetyltransferase deficiency and mucopolysaccharidosis iii, 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 skin, liver and bone, and related phenotypes are intellectual disability and seizures

OMIM : 57 Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA. For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (252900). (252930)

UniProtKB/Swiss-Prot : 75 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.

Wikipedia : 76 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...

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 via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
motor deterioration
mental retardation
sleep disturbances common
slowing mental development by 1.5 to 3 years of age
more
Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

Head And Neck Eyes:
synophrys
clear corneas
retinitis pigmentosa (late-onset)

Skeletal Spine:
kyphoscoliosis
ovoid thoracolumbar vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

Head And Neck Mouth:
everted lower lip

Abdomen Spleen:
mild splenomegaly

Skeletal:
mild dysostosis multiplex

Abdomen Liver:
mild hepatomegaly

Laboratory Abnormalities:
heparan sulfate excretion in urine
acetyl coa:alpha-glucosaminidase n-acetyltransferase deficiency in fibroblasts
metachromasia of white blood cells and fibroblasts
enzyme replacement therapy has not been effective

Head And Neck Nose:
fleshy nasal tip

Abdomen Gastrointestinal:
dysphagia
diarrhea

Skeletal Skull:
dolichocephaly
dense calvaria

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
temper tantrums
severe behavioral problems at age 3-4

Head And Neck Ears:
hearing loss
thickening of the helices

Muscle Soft Tissue:
hernias

Respiratory Nasopharynx:
frequent upper respiratory infections

Cardiovascular Heart:
asymmetric septal hypertrophy

Growth Other:
usually normal stature

Skeletal Limbs:
mild joint stiffness

Head And Neck Face:
coarse facies, mild


Clinical features from OMIM:

252930

Human phenotypes related to Mucopolysaccharidosis, Type Iiic:

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

UMLS symptoms related to Mucopolysaccharidosis, Type Iiic:


seizures, joint stiffness, diarrhea

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiic

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis, Type Iiic

Genetic Tests for Mucopolysaccharidosis, Type Iiic

Anatomical Context for Mucopolysaccharidosis, Type Iiic

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiic:

41
Skin, Liver, Bone, Eye

Publications for Mucopolysaccharidosis, Type Iiic

Articles related to Mucopolysaccharidosis, Type Iiic:

# 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:

75 (show all 23)
# 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 top 50) (show all 142)
# 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.493+1G> A single nucleotide variant Pathogenic rs193066451 GRCh38 Chromosome 8, 43159045: 43159045
3 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh37 Chromosome 8, 43047541: 43047541
4 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh38 Chromosome 8, 43192398: 43192398
5 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
6 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh38 Chromosome 8, 43173740: 43173740
7 HGSNAT NM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter) single nucleotide variant Pathogenic rs121908283 GRCh37 Chromosome 8, 43033327: 43033327
8 HGSNAT NM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter) single nucleotide variant Pathogenic rs121908283 GRCh38 Chromosome 8, 43178184: 43178184
9 HGSNAT NM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys) single nucleotide variant Pathogenic rs121908284 GRCh37 Chromosome 8, 43048967: 43048967
10 HGSNAT NM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys) single nucleotide variant Pathogenic rs121908284 GRCh38 Chromosome 8, 43193824: 43193824
11 HGSNAT NM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs) duplication Pathogenic rs483352895 GRCh37 Chromosome 8, 43016612: 43016612
12 HGSNAT NM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs) duplication Pathogenic rs483352895 GRCh38 Chromosome 8, 43161469: 43161469
13 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh37 Chromosome 8, 43014064: 43014064
14 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh38 Chromosome 8, 43158921: 43158921
15 HGSNAT NM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys) single nucleotide variant Likely pathogenic rs121908285 GRCh37 Chromosome 8, 43037305: 43037305
16 HGSNAT NM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys) single nucleotide variant Likely pathogenic rs121908285 GRCh38 Chromosome 8, 43182162: 43182162
17 HGSNAT NM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe) single nucleotide variant Pathogenic rs121908286 GRCh37 Chromosome 8, 43052825: 43052825
18 HGSNAT NM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe) single nucleotide variant Pathogenic rs121908286 GRCh38 Chromosome 8, 43197682: 43197682
19 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh37 Chromosome 8, 43002207: 43002207
20 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh38 Chromosome 8, 43147064: 43147064
21 HGSNAT NM_152419.2(HGSNAT): c.1250+1G> A single nucleotide variant Pathogenic rs398124544 GRCh37 Chromosome 8, 43046739: 43046739
22 HGSNAT NM_152419.2(HGSNAT): c.1250+1G> A single nucleotide variant Pathogenic rs398124544 GRCh38 Chromosome 8, 43191596: 43191596
23 HGSNAT NM_152419.2(HGSNAT): c.1377+20G> A single nucleotide variant Benign rs17603428 GRCh37 Chromosome 8, 43047593: 43047593
24 HGSNAT NM_152419.2(HGSNAT): c.1377+20G> A single nucleotide variant Benign rs17603428 GRCh38 Chromosome 8, 43192450: 43192450
25 HGSNAT NM_152419.2(HGSNAT): c.1464+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398124545 GRCh37 Chromosome 8, 43048987: 43048987
26 HGSNAT NM_152419.2(HGSNAT): c.1464+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs398124545 GRCh38 Chromosome 8, 43193844: 43193844
27 HGSNAT NM_152419.2(HGSNAT): c.1749T> C (p.Tyr583=) single nucleotide variant Benign rs1126058 GRCh37 Chromosome 8, 43054553: 43054553
28 HGSNAT NM_152419.2(HGSNAT): c.1749T> C (p.Tyr583=) single nucleotide variant Benign rs1126058 GRCh38 Chromosome 8, 43199410: 43199410
29 HGSNAT NM_152419.2(HGSNAT): c.710C> A (p.Pro237Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727503962 GRCh37 Chromosome 8, 43025804: 43025804
30 HGSNAT NM_152419.2(HGSNAT): c.710C> A (p.Pro237Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs727503962 GRCh38 Chromosome 8, 43170661: 43170661
31 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh37 Chromosome 8, 43054644: 43054644
32 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh38 Chromosome 8, 43199501: 43199501
33 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 GRCh37 Chromosome 8, 43013853: 43013853
34 HGSNAT NM_152419.2(HGSNAT): c.370A> T (p.Arg124Trp) single nucleotide variant Uncertain significance rs754875934 GRCh38 Chromosome 8, 43158710: 43158710
35 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 GRCh38 Chromosome 8, 43199504: 43199504
36 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs112029032 GRCh37 Chromosome 8, 43054647: 43054647
37 HGSNAT NM_152419.2(HGSNAT): c.1209G> T (p.Trp403Cys) single nucleotide variant Uncertain significance rs764206492 GRCh37 Chromosome 8, 43046697: 43046697
38 HGSNAT NM_152419.2(HGSNAT): c.1209G> T (p.Trp403Cys) single nucleotide variant Uncertain significance rs764206492 GRCh38 Chromosome 8, 43191554: 43191554
39 HGSNAT NM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs370717845 GRCh37 Chromosome 8, 43016605: 43016605
40 HGSNAT NM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs370717845 GRCh38 Chromosome 8, 43161462: 43161462
41 HGSNAT NM_152419.2(HGSNAT): c.1411G> A (p.Glu471Lys) single nucleotide variant Pathogenic/Likely pathogenic rs753355844 GRCh37 Chromosome 8, 43048933: 43048933
42 HGSNAT NM_152419.2(HGSNAT): c.1411G> A (p.Glu471Lys) single nucleotide variant Pathogenic/Likely pathogenic rs753355844 GRCh38 Chromosome 8, 43193790: 43193790
43 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh37 Chromosome 8, 43053062: 43053062
44 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh38 Chromosome 8, 43197919: 43197919
45 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh37 Chromosome 8, 43052839: 43052839
46 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh38 Chromosome 8, 43197696: 43197696
47 HGSNAT NM_152419.2(HGSNAT): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs1057518644 GRCh38 Chromosome 8, 43192413: 43192413
48 HGSNAT NM_152419.2(HGSNAT): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs1057518644 GRCh37 Chromosome 8, 43047556: 43047556
49 HGSNAT NM_152419.2(HGSNAT): c.1267G> T (p.Gly423Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795522 GRCh38 Chromosome 8, 43192320: 43192320
50 HGSNAT NM_152419.2(HGSNAT): c.1267G> T (p.Gly423Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795522 GRCh37 Chromosome 8, 43047463: 43047463

Expression for Mucopolysaccharidosis, Type Iiic

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Pathways for Mucopolysaccharidosis, Type Iiic

GO Terms for Mucopolysaccharidosis, Type Iiic

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