MCID: MCP045
MIFTS: 34

Mucopolysaccharidosis, Type Iiic

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Skin diseases, Respiratory diseases, Blood 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 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, and related phenotypes are everted lower lip vermilion and dense calvaria

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

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

UMLS symptoms related to Mucopolysaccharidosis, Type Iiic:


diarrhea, seizures, joint stiffness

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiic

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Sanfilippo Disease Terminated NCT02298686

Search 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
Eye, Bone, Skin

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 all 48)
# 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.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh37 Chromosome 8, 43028883: 43028883
4 HGSNAT NM_152419.2(HGSNAT): c.848C> T (p.Pro283Leu) single nucleotide variant Likely pathogenic rs121908282 GRCh38 Chromosome 8, 43173740: 43173740
5 HGSNAT NM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter) single nucleotide variant Pathogenic rs121908283 GRCh37 Chromosome 8, 43033327: 43033327
6 HGSNAT NM_152419.2(HGSNAT): c.962T> G (p.Leu321Ter) single nucleotide variant Pathogenic rs121908283 GRCh38 Chromosome 8, 43178184: 43178184
7 HGSNAT NM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys) single nucleotide variant Pathogenic rs121908284 GRCh37 Chromosome 8, 43048967: 43048967
8 HGSNAT NM_152419.2(HGSNAT): c.1445T> A (p.Met482Lys) single nucleotide variant Pathogenic rs121908284 GRCh38 Chromosome 8, 43193824: 43193824
9 HGSNAT NM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs) duplication Pathogenic rs483352895 GRCh37 Chromosome 8, 43016612: 43016612
10 HGSNAT NM_152419.2(HGSNAT): c.525dupT (p.Val176Cysfs) duplication Pathogenic rs483352895 GRCh38 Chromosome 8, 43161469: 43161469
11 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh37 Chromosome 8, 43014064: 43014064
12 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh38 Chromosome 8, 43158921: 43158921
13 HGSNAT NM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys) single nucleotide variant Pathogenic rs121908285 GRCh37 Chromosome 8, 43037305: 43037305
14 HGSNAT NM_152419.2(HGSNAT): c.1030C> T (p.Arg344Cys) single nucleotide variant Pathogenic rs121908285 GRCh38 Chromosome 8, 43182162: 43182162
15 HGSNAT NM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe) single nucleotide variant Pathogenic rs121908286 GRCh37 Chromosome 8, 43052825: 43052825
16 HGSNAT NM_152419.2(HGSNAT): c.1553C> T (p.Ser518Phe) single nucleotide variant Pathogenic rs121908286 GRCh38 Chromosome 8, 43197682: 43197682
17 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh37 Chromosome 8, 43002207: 43002207
18 HGSNAT NM_152419.2(HGSNAT): c.234+1G> A single nucleotide variant Pathogenic rs483352908 GRCh38 Chromosome 8, 43147064: 43147064
19 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh37 Chromosome 8, 43054644: 43054644
20 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh38 Chromosome 8, 43199501: 43199501
21 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Likely benign rs112029032 GRCh38 Chromosome 8, 43199504: 43199504
22 HGSNAT NM_152419.2(HGSNAT): c.1843G> A (p.Ala615Thr) single nucleotide variant Likely benign rs112029032 GRCh37 Chromosome 8, 43054647: 43054647
23 HGSNAT NM_152419.2(HGSNAT): c.1209G> T (p.Trp403Cys) single nucleotide variant Pathogenic rs764206492 GRCh37 Chromosome 8, 43046697: 43046697
24 HGSNAT NM_152419.2(HGSNAT): c.1209G> T (p.Trp403Cys) single nucleotide variant Pathogenic rs764206492 GRCh38 Chromosome 8, 43191554: 43191554
25 HGSNAT NM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs370717845 GRCh37 Chromosome 8, 43016605: 43016605
26 HGSNAT NM_152419.2(HGSNAT): c.518G> A (p.Gly173Asp) single nucleotide variant Pathogenic rs370717845 GRCh38 Chromosome 8, 43161462: 43161462
27 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh37 Chromosome 8, 43053062: 43053062
28 HGSNAT NM_152419.2(HGSNAT): c.1693G> C (p.Gly565Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs148632988 GRCh38 Chromosome 8, 43197919: 43197919
29 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh37 Chromosome 8, 43052839: 43052839
30 HGSNAT NM_152419.2(HGSNAT): c.1567A> C (p.Lys523Gln) single nucleotide variant Benign/Likely benign rs73569592 GRCh38 Chromosome 8, 43197696: 43197696
31 HGSNAT NM_152419.2(HGSNAT): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs1057518644 GRCh38 Chromosome 8, 43192413: 43192413
32 HGSNAT NM_152419.2(HGSNAT): c.1360C> T (p.Gln454Ter) single nucleotide variant Pathogenic rs1057518644 GRCh37 Chromosome 8, 43047556: 43047556
33 HGSNAT NM_152419.2(HGSNAT): c.1267G> T (p.Gly423Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795522 GRCh38 Chromosome 8, 43192320: 43192320
34 HGSNAT NM_152419.2(HGSNAT): c.1267G> T (p.Gly423Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1064795522 GRCh37 Chromosome 8, 43047463: 43047463
35 HGSNAT NM_152419.2(HGSNAT): c.1880A> G (p.Tyr627Cys) single nucleotide variant Uncertain significance rs192857413 GRCh37 Chromosome 8, 43054684: 43054684
36 HGSNAT NM_152419.2(HGSNAT): c.1880A> G (p.Tyr627Cys) single nucleotide variant Uncertain significance rs192857413 GRCh38 Chromosome 8, 43199541: 43199541
37 HGSNAT NM_152419.2(HGSNAT): c.836A> C (p.Asp279Ala) single nucleotide variant Likely pathogenic rs1085307112 GRCh37 Chromosome 8, 43028871: 43028871
38 HGSNAT NM_152419.2(HGSNAT): c.836A> C (p.Asp279Ala) single nucleotide variant Likely pathogenic rs1085307112 GRCh38 Chromosome 8, 43173728: 43173728
39 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh37 Chromosome 8, 43054522: 43054522
40 HGSNAT NM_152419.2(HGSNAT): c.1727-9C> G single nucleotide variant Benign rs76750342 GRCh38 Chromosome 8, 43199379: 43199379
41 HGSNAT NM_152419.2(HGSNAT): c.1042G> A (p.Val348Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 43037317: 43037317
42 HGSNAT NM_152419.2(HGSNAT): c.1042G> A (p.Val348Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 43182174: 43182174
43 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh37 Chromosome 8, 42958672: 43054732
44 HGSNAT NC_000008.11: g.(?_43103529)_(43199589_?)dup duplication Uncertain significance GRCh38 Chromosome 8, 43103529: 43199589
45 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh38 Chromosome 8, 43178109: 43178109
46 HGSNAT NM_152419.2(HGSNAT): c.887C> A (p.Ser296Ter) single nucleotide variant Pathogenic rs372933126 GRCh37 Chromosome 8, 43033252: 43033252
47 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh37 Chromosome 8, 43047543: 43047543
48 HGSNAT NM_152419.2(HGSNAT): c.1347C> T (p.Asp449=) single nucleotide variant Likely benign rs752420375 GRCh38 Chromosome 8, 43192400: 43192400

Expression for Mucopolysaccharidosis, Type Iiic

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Pathways for Mucopolysaccharidosis, Type Iiic

GO Terms for Mucopolysaccharidosis, Type Iiic

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