MCID: MCP020
MIFTS: 32

Mucopolysaccharidosis Type Iiic

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

MalaCards integrated aliases for Mucopolysaccharidosis Type Iiic:

Name: Mucopolysaccharidosis Type Iiic 54 50 24 56 71 13
Sanfilippo Syndrome Type C 50 24 56
Mps Iiic 50 24 71
Mps3c 50 56 71
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 50 56
Mucopolysaccharidosis Type 3c 50 56
Sanfilippo Syndrome C 50 71
Hgsnat Deficiency 50 56
Mpsiiic 50 56
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 50
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 71
Heparan-Alpha-Glucosaminide N-Acetyltransferase 13
Mucopoly-Saccharidosis Type 3c 50
Mucopolysaccharidosis 3c 71
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;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
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
four clinically indistinguishable biochemically distinct forms


HPO:

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


Classifications:



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 retinitis pigmentosa, and has symptoms including dysphagia, hirsutism 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 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 : 71 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

Symptoms & Phenotypes for Mucopolysaccharidosis Type Iiic

Symptoms via clinical synopsis from OMIM:

54

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

Skeletal- Spine:
kyphoscoliosis
ovoid thoracolumbar vertebrae

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

Skeletal- Skull:
dolichocephaly
dense calvaria

Cardiovascular- Heart:
asymmetric septal hypertrophy

Muscle Soft Tissue:
hernias

Growth- Other:
usually normal stature

Head And Neck- Nose:
fleshy nasal tip

Abdomen- Spleen:
mild splenomegaly

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

Abdomen- Gastroin testinal:
dysphagia
diarrhea

Head And Neck- Ears:
hearing loss
thickening of the helices

Head And Neck- Mouth:
everted lower lip

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

Respiratory- Nasopharynx:
frequent upper respiratory infections

Abdomen- Liver:
mild hepatomegaly

Skeletal:
mild dysostosis multiplex

Head And Neck- Face:
coarse facies, mild

Chest- Ribs Sternum Clavicles And Scapulae:
thickened ribs

Skeletal- Limbs:
mild joint stiffness


Clinical features from OMIM:

252930

Human phenotypes related to Mucopolysaccharidosis Type Iiic:

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

71 (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/Likely 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 GRCh37 Chromosome 8, 43047556: 43047556
13 HGSNAT NM_152419.2(HGSNAT): c.836A> C (p.Asp279Ala) single nucleotide variant Likely pathogenic rs1085307112 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

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65 SNOMED-CT via HPO
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67 TGDB
68 Tocris
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70 UMLS via Orphanet
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