MPS3C
MCID: MCP045
MIFTS: 58

Mucopolysaccharidosis, Type Iiic (MPS3C)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological 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 39
Mucopolysaccharidosis Type Iiic 57 12 20 58 72 13 15
Mps3c 57 12 20 58 72
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency 12 20 58
Mucopolysaccharidosis Type 3c 12 20 58
Sanfilippo Syndrome Type C 12 20 58
Sanfilippo Syndrome C 57 20 72
Hgsnat Deficiency 12 20 58
Mps Iiic 57 20 72
Mpsiiic 12 20 58
Acetyl-Coa:alpha-Glucosaminide N-Acetyltransferase Deficiency 57 72
Mucopoly-Saccharidosis Type 3c 20 6
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency 20
Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency 12
Mucopolysaccharidosis Iii 44
Mucopolysaccharidosis 3c 72
Mps Iii-C 73
Mps Iii C 70
Mps 3c 20

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
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:

31
mucopolysaccharidosis, type iiic:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucopolysaccharidosis, Type Iiic

GARD : 20 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 kluver-bucy syndrome and mucopolysaccharidosis, type iiid, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiic is HGSNAT (Heparan-Alpha-Glucosaminide N-Acetyltransferase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Lysine and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are intellectual disability and sleep disturbance

Disease Ontology : 12 A mucopolysaccharidosis III that has material basis in homozygous or compound heterozygous mutation in HGSNAT on chromosome 8p11.2-p11.1.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiic

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis, Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv

Diseases related to Mucopolysaccharidosis, Type Iiic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 kluver-bucy syndrome 30.3 SGSH NAGLU HGSNAT
2 mucopolysaccharidosis, type iiid 30.3 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
3 mucopolysaccharidoses 29.8 SGSH NAGLU IDUA HGSNAT ARSB
4 lysosomal storage disease 28.9 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
5 mucopolysaccharidosis iii 28.6 SUMF1 SGSH NAGLU MFSD8 LAMP2 IDUA
6 mucopolysaccharidosis-plus syndrome 28.3 SUMF1 SGSH NAGLU LAMP2 IDUA IDS
7 mucopolysaccharidosis, type iiib 28.2 SUMF1 SGSH NAGLU LAMP2 IDUA IDS
8 mucopolysaccharidosis, type iiia 27.6 SUMF1 SGSH NAGLU LAMP2 IDUA IDS
9 n acetyltransferase deficiency 11.3
10 mongolian spot 10.2 NAGLU IDUA
11 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.2 IDUA ARSG
12 galactosialidosis 10.2 IDUA GALNS
13 ceroid lipofuscinosis, neuronal, 7 10.1 SGSH MFSD8
14 ceroid lipofuscinosis, neuronal, 1 10.1 SGSH MFSD8
15 glycoproteinosis 10.1 GALNS ARSB
16 ceroid lipofuscinosis, neuronal, 10 10.1 SGSH MFSD8
17 mucolipidosis iii alpha/beta 10.1 NAGLU ARSB
18 umbilical hernia 10.1 IDUA ARSB
19 retinitis pigmentosa 10.1
20 yemenite deaf-blind hypopigmentation syndrome 10.1
21 retinitis pigmentosa 73 10.1
22 autosomal recessive disease 10.1
23 neuroretinitis 10.1
24 dysostosis 10.1
25 retinitis 10.1
26 retinal degeneration 10.1
27 lysosomal storage disease with skeletal involvement 10.1
28 syndromic rod-cone dystrophy 10.1
29 d-2-hydroxyglutaric aciduria 1 10.0
30 2-hydroxyglutaric aciduria 10.0
31 pyloric stenosis 10.0
32 fundus dystrophy 10.0
33 dwarfism 10.0
34 dysphagia 10.0
35 tay-sachs disease 10.0 SGSH IDUA IDS
36 c syndrome 10.0
37 diarrhea 10.0
38 orthostatic intolerance 10.0
39 alacrima, achalasia, and mental retardation syndrome 10.0
40 charcot-marie-tooth disease, axonal, type 2v 10.0
41 mitral valve insufficiency 10.0
42 aortic valve insufficiency 10.0
43 mannosidosis, alpha b, lysosomal 10.0 SGSH MFSD8 IDUA
44 glycogen storage disease ii 10.0 LAMP2 IDUA
45 neuronal ceroid lipofuscinosis 9.9 SGSH MFSD8 ARSG
46 fucosidosis 9.9 NAGLU IDUA GALNS ARSB
47 hereditary multiple exostoses 9.9 EXTL3 EXTL2
48 arachnoid cysts, intracranial 9.8
49 heart valve disease 9.8
50 tricuspid valve insufficiency 9.8

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



Diseases related to Mucopolysaccharidosis, Type Iiic

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiic

Human phenotypes related to Mucopolysaccharidosis, Type Iiic:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
motor deterioration
mental retardation
slowing mental development by 1.5 to 3 years of age
sleep disturbances common
more
Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

Skeletal Skull:
dolichocephaly
dense calvaria

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

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

Head And Neck Ears:
hearing loss
thickening of the helices

Head And Neck Mouth:
everted lower lip

Head And Neck Face:
coarse facies, mild

Abdomen Spleen:
splenomegaly, mild

Skeletal Limbs:
joint stiffness, mild

Head And Neck Nose:
fleshy nasal tip

Abdomen Gastrointestinal:
dysphagia
diarrhea

Skeletal Spine:
kyphoscoliosis
ovoid thoracolumbar vertebrae

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

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

Cardiovascular Heart:
asymmetric septal hypertrophy

Muscle Soft Tissue:
hernias

Respiratory Nasopharynx:
frequent upper respiratory infections

Abdomen Liver:
hepatomegaly, mild

Skeletal:
dysostosis multiplex, mild

Growth Other:
normal stature (in most patients)

Clinical features from OMIM®:

252930 (Updated 05-Apr-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Iiic:


seizures; joint stiffness; diarrhea

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiic:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 ARSB ARSG EXTL2 EXTL3 GALNS GNS
2 behavior/neurological MP:0005386 10.25 ARSB ARSG GNS HGSNAT IDS IDUA
3 cardiovascular system MP:0005385 10.19 ARSB ARSG EXTL3 HGSNAT IDUA LAMP2
4 hematopoietic system MP:0005397 10.17 ARSB ARSG GNS HGSNAT IDS IDUA
5 immune system MP:0005387 10.1 ARSG GNS HGSNAT IDS IDUA LAMP2
6 liver/biliary system MP:0005370 10.02 ARSG EXTL3 HGSNAT IDS IDUA LAMP2
7 craniofacial MP:0005382 10 ARSB IDS IDUA LAMP2 NAGLU SGSH
8 nervous system MP:0003631 10 ARSB ARSG GNS HGSNAT IDS IDUA
9 limbs/digits/tail MP:0005371 9.85 ARSB HGSNAT IDS IDUA SGSH SUMF1
10 renal/urinary system MP:0005367 9.81 ARSB ARSG GALNS HGSNAT IDS IDUA
11 skeleton MP:0005390 9.61 ARSB GALNS HGSNAT IDS IDUA LAMP2
12 vision/eye MP:0005391 9.28 ARSB ARSG ARSK GALNS IDS IDUA

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiic

Drugs for Mucopolysaccharidosis, Type Iiic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lysine Approved, Nutraceutical Phase 2, Phase 3 56-87-1 5962
2 Antirheumatic Agents Phase 2, Phase 3
3 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
tannic acid Approved Phase 2 1401-55-4
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
9
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12 Alkylating Agents Phase 2
13 Immunosuppressive Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Cyclosporins Phase 2
16 Immunologic Factors Phase 2
17 Antineoplastic Agents, Immunological Phase 2
18 Dermatologic Agents Phase 2
19 Antimetabolites Phase 2
20 Calcineurin Inhibitors Phase 2
21 Antifungal Agents Phase 2
22 insulin Phase 2
23 Mitogens Phase 2
24 Insulin, Globin Zinc Phase 2
25 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Open-label, Single-arm, Multi-center Study of Intracerebral Administration of Adeno-associated Viral (AAV) Serotype rh.10 Carrying Human N-sulfoglucosamine Sulfohydrolase (SGSH) cDNA for Treatment of Mucopolysaccharidosis Type IIIA Active, not recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
2 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
3 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT02754076 Phase 1, Phase 2 AX 250
4 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
5 A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01155778 Phase 1, Phase 2
6 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
7 An Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. Completed NCT01474343 Phase 1, Phase 2
8 Protocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B Syndrome Completed NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
9 Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. Completed NCT02053064 Phase 1, Phase 2
10 An Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA Patients Completed NCT03423186 Phase 1, Phase 2 SOBI003
11 A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]
12 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
13 A Phase I-II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11b Lentiviral Vector Encoding for Human SGSH in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIa, Sanfilippo Syndrome Type A) Recruiting NCT04201405 Phase 1, Phase 2 Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene
14 Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
15 A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA Disease Recruiting NCT04088734 Phase 1, Phase 2 ABO-102
16 A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Active, not recruiting NCT03784287 Phase 2 AX 250
17 An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients Active, not recruiting NCT03811028 Phase 1, Phase 2 SOBI003
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA Disease Terminated NCT02350816 Phase 2 HGT-1410
20 A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Terminated NCT02618512 Phase 1, Phase 2 SBC-103
21 An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Terminated NCT01299727 Phase 1, Phase 2
22 A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Completed NCT02493998
23 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
24 An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
25 A Longitudinal, Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
26 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
27 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
28 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
29 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
30 Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging Completed NCT02090179
31 A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) Recruiting NCT04655911
32 A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) Recruiting NCT04360265
33 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT03227042
34 A Prospective Cross-Sectional and Longitudinal Study With Additional Retrospective Chart Review to Evaluate Clinical and Biochemical Characteristics and Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Terminated NCT02293408

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiic

Cochrane evidence based reviews: mucopolysaccharidosis iii

Genetic Tests for Mucopolysaccharidosis, Type Iiic

Anatomical Context for Mucopolysaccharidosis, Type Iiic

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiic:

40
Eye, Spinal Cord, Brain, Skin

Publications for Mucopolysaccharidosis, Type Iiic

Articles related to Mucopolysaccharidosis, Type Iiic:

(show all 39)
# Title Authors PMID Year
1
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 6 57
20825431 2011
2
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 6 57
19479962 2009
3
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene. 6 57
18518886 2008
4
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 6 57
18024218 2008
5
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). 6 57
17033958 2006
6
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). 57 6
16960811 2006
7
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). 61 6
25859010 2015
8
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 6 61
19823584 2009
9
Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8. 57 61
15591281 2004
10
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree. 57 61
3142713 1988
11
The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. 6
28981474 2017
12
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia. 6
27733599 2017
13
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
14
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. 6
25491247 2014
15
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
16
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 6
23301227 2013
17
Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). 6
20583299 2010
18
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 6
17397050 2007
19
Incidence of the mucopolysaccharidoses in Western Australia. 57
14608657 2003
20
Chromosomes 14 and 21 as possible candidates for mapping the gene for Sanfilippo disease type IIIC. 57
1640438 1992
21
Genetic evidence for transmembrane acetylation by lysosomes. 57
3090688 1986
22
Acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Evidence for an active site histidine residue. 57
3733705 1986
23
Acetyl coenzyme A: alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism. 57
3897232 1985
24
Sanfilippo type C syndrome in two sisters. 57
3920864 1985
25
Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes. 57
6402508 1983
26
Sanfilippo syndrome type C: assay for acetyl-CoA: alpha-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals. 57
6794963 1981
27
The diagnosis of the Sanfilippo C syndrome, using monosaccharide and oligosaccharide substrates to assay acetyl-CoA: 2-amino-2-deoxy-alpha-glucoside N-acetyltransferase activity. 57
6786804 1981
28
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. 57
108106 1979
29
Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. 57
33384 1978
30
A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis. 61
32770643 2020
31
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. 61
31228227 2019
32
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). 61
27827379 2017
33
HGSNAT has a TATA-less promoter with multiple starts of transcription. 61
27452122 2016
34
Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. 61
27491071 2016
35
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C. 61
26459666 2015
36
Molecular and cellular basis of lysosomal transmembrane protein dysfunction. 61
19146888 2009
37
Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). 61
17938166 2007
38
The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients. 61
16783568 2006
39
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen. 61
12842096 2003

Variations for Mucopolysaccharidosis, Type Iiic

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiic:

6 (show top 50) (show all 362)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) SNV Pathogenic 252961 rs370717845 GRCh37: 8:43016605-43016605
GRCh38: 8:43161462-43161462
2 HGSNAT NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter) SNV Pathogenic 1233 rs121908283 GRCh37: 8:43033327-43033327
GRCh38: 8:43178184-43178184
3 HGSNAT NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) SNV Pathogenic 1234 rs121908284 GRCh37: 8:43048967-43048967
GRCh38: 8:43193824-43193824
4 HGSNAT NM_152419.3(HGSNAT):c.525dup (p.Val176fs) Duplication Pathogenic 1235 rs483352895 GRCh37: 8:43016611-43016612
GRCh38: 8:43161468-43161469
5 HGSNAT NM_152419.3(HGSNAT):c.372-2A>G SNV Pathogenic 1236 rs483352896 GRCh37: 8:43014064-43014064
GRCh38: 8:43158921-43158921
6 HGSNAT NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) SNV Pathogenic 1238 rs121908286 GRCh37: 8:43052825-43052825
GRCh38: 8:43197682-43197682
7 HGSNAT NM_152419.3(HGSNAT):c.234+1G>A SNV Pathogenic 30832 rs483352908 GRCh37: 8:43002207-43002207
GRCh38: 8:43147064-43147064
8 HGSNAT NM_152419.3(HGSNAT):c.234+1G>A SNV Pathogenic 30832 rs483352908 GRCh37: 8:43002207-43002207
GRCh38: 8:43147064-43147064
9 HGSNAT NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) SNV Pathogenic 542424 rs372933126 GRCh37: 8:43033252-43033252
GRCh38: 8:43178109-43178109
10 HGSNAT NM_152419.3(HGSNAT):c.739del (p.Arg247fs) Deletion Pathogenic 426971 rs1085307880 GRCh37: 8:43025833-43025833
GRCh38: 8:43170690-43170690
11 HGSNAT NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) SNV Pathogenic 552134 rs747240928 GRCh37: 8:43052142-43052142
GRCh38: 8:43196999-43196999
12 HGSNAT NM_152419.3(HGSNAT):c.852-1G>A SNV Pathogenic 556501 rs1447092074 GRCh37: 8:43033216-43033216
GRCh38: 8:43178073-43178073
13 HGSNAT NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) SNV Pathogenic 569073 rs756310864 GRCh37: 8:43052991-43052991
GRCh38: 8:43197848-43197848
14 HGSNAT NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) SNV Pathogenic 569138 rs1563366896 GRCh37: 8:43024359-43024359
GRCh38: 8:43169216-43169216
15 HGSNAT NM_152419.3(HGSNAT):c.739del (p.Arg247fs) Deletion Pathogenic 426971 rs1085307880 GRCh37: 8:43025833-43025833
GRCh38: 8:43170690-43170690
16 HGSNAT NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) SNV Pathogenic 265483 rs753355844 GRCh37: 8:43048933-43048933
GRCh38: 8:43193790-43193790
17 HGSNAT NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) SNV Pathogenic 638471 rs752939204 GRCh37: 8:43037323-43037323
GRCh38: 8:43182180-43182180
18 HGSNAT NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) SNV Pathogenic 651853 rs1586698317 GRCh37: 8:43002136-43002136
GRCh38: 8:43146993-43146993
19 HGSNAT NC_000008.11:g.(?_43140497)_(43161507_?)del Deletion Pathogenic 832581 GRCh37: 8:42995640-43016650
GRCh38:
20 HGSNAT NC_000008.11:g.(?_43169153)_(43178254_?)del Deletion Pathogenic 832880 GRCh37: 8:43024296-43033397
GRCh38:
21 HGSNAT NM_152419.3(HGSNAT):c.1174C>T (p.Gln392Ter) SNV Pathogenic 837469 GRCh37: 8:43046662-43046662
GRCh38: 8:43191519-43191519
22 HGSNAT NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) SNV Pathogenic 552134 rs747240928 GRCh37: 8:43052142-43052142
GRCh38: 8:43196999-43196999
23 HGSNAT NM_152419.3(HGSNAT):c.852-2A>C SNV Pathogenic 504466 rs755710040 GRCh37: 8:43033215-43033215
GRCh38: 8:43178072-43178072
24 HGSNAT NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs) Duplication Pathogenic 840032 GRCh37: 8:43048957-43048958
GRCh38: 8:43193814-43193815
25 HGSNAT NC_000008.11:g.(?_43196928)_(43197972_?)del Deletion Pathogenic 830681 GRCh37: 8:43052071-43053115
GRCh38:
26 HGSNAT NM_152419.3(HGSNAT):c.372-2A>G SNV Pathogenic 1236 rs483352896 GRCh37: 8:43014064-43014064
GRCh38: 8:43158921-43158921
27 HGSNAT NM_152419.3(HGSNAT):c.1051C>T (p.Arg351Ter) SNV Pathogenic 935752 GRCh37: 8:43037326-43037326
GRCh38: 8:43182183-43182183
28 HGSNAT NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) SNV Pathogenic 866424 GRCh37: 8:43047526-43047526
GRCh38: 8:43192383-43192383
29 HGSNAT NM_152419.3(HGSNAT):c.493+809T>C SNV Pathogenic 974787 GRCh37: 8:43014996-43014996
GRCh38: 8:43159853-43159853
30 HGSNAT NM_152419.3(HGSNAT):c.679C>T (p.Gln227Ter) SNV Pathogenic 958204 GRCh37: 8:43025773-43025773
GRCh38: 8:43170630-43170630
31 HGSNAT NM_152419.3(HGSNAT):c.111del (p.Pro38fs) Deletion Pathogenic 958777 GRCh37: 8:42995750-42995750
GRCh38: 8:43140607-43140607
32 HGSNAT NM_152419.3(HGSNAT):c.1464+1G>A SNV Pathogenic 96502 rs398124545 GRCh37: 8:43048987-43048987
GRCh38: 8:43193844-43193844
33 HGSNAT NM_152419.3(HGSNAT):c.150del (p.Met51fs) Deletion Pathogenic 941073 GRCh37: 8:43002122-43002122
GRCh38: 8:43146979-43146979
34 HGSNAT NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) SNV Pathogenic 1232 rs121908282 GRCh37: 8:43028883-43028883
GRCh38: 8:43173740-43173740
35 HGSNAT NM_152419.3(HGSNAT):c.493+1G>A SNV Pathogenic 1230 rs193066451 GRCh37: 8:43014188-43014188
GRCh38: 8:43159045-43159045
36 HGSNAT NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) SNV Pathogenic 549921 rs775078211 GRCh37: 8:43046638-43046638
GRCh38: 8:43191495-43191495
37 HGSNAT NM_152419.3(HGSNAT):c.493+1G>A SNV Pathogenic 1230 rs193066451 GRCh37: 8:43014188-43014188
GRCh38: 8:43159045-43159045
38 HGSNAT NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) SNV Pathogenic 549921 rs775078211 GRCh37: 8:43046638-43046638
GRCh38: 8:43191495-43191495
39 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV Pathogenic 1237 rs121908285 GRCh37: 8:43037305-43037305
GRCh38: 8:43182162-43182162
40 HGSNAT NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp) SNV Pathogenic 208815 rs754875934 GRCh37: 8:43013853-43013853
GRCh38: 8:43158710-43158710
41 HGSNAT NM_152419.3(HGSNAT):c.1250+1G>A SNV Pathogenic 96500 rs398124544 GRCh37: 8:43046739-43046739
GRCh38: 8:43191596-43191596
42 HGSNAT NM_152419.3(HGSNAT):c.1250+1G>A SNV Pathogenic/Likely pathogenic 96500 rs398124544 GRCh37: 8:43046739-43046739
GRCh38: 8:43191596-43191596
43 HGSNAT NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) SNV Pathogenic/Likely pathogenic 265483 rs753355844 GRCh37: 8:43048933-43048933
GRCh38: 8:43193790-43193790
44 HGSNAT NM_152419.3(HGSNAT):c.1360C>T (p.Gln454Ter) SNV Likely pathogenic 374408 rs1057518644 GRCh37: 8:43047556-43047556
GRCh38: 8:43192413-43192413
45 HGSNAT NM_152419.3(HGSNAT):c.836A>C (p.Asp279Ala) SNV Likely pathogenic 425553 rs1085307112 GRCh37: 8:43028871-43028871
GRCh38: 8:43173728-43173728
46 HGSNAT NM_152419.3(HGSNAT):c.851+1G>A SNV Likely pathogenic 552286 rs1554532283 GRCh37: 8:43028887-43028887
GRCh38: 8:43173744-43173744
47 HGSNAT NM_152419.3(HGSNAT):c.1542+1G>C SNV Likely pathogenic 552646 rs1554537612 GRCh37: 8:43052169-43052169
GRCh38: 8:43197026-43197026
48 HGSNAT NM_152419.3(HGSNAT):c.1031G>A (p.Arg344His) SNV Likely pathogenic 551378 rs766835582 GRCh37: 8:43037306-43037306
GRCh38: 8:43182163-43182163
49 HGSNAT NM_152419.3(HGSNAT):c.852-2A>C SNV Likely pathogenic 504466 rs755710040 GRCh37: 8:43033215-43033215
GRCh38: 8:43178072-43178072
50 HGSNAT NM_152419.3(HGSNAT):c.1129-2A>T SNV Likely pathogenic 554389 rs749568919 GRCh37: 8:43046615-43046615
GRCh38: 8:43191472-43191472

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

72 (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

Expression for Mucopolysaccharidosis, Type Iiic

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

Pathways for Mucopolysaccharidosis, Type Iiic

Pathways related to Mucopolysaccharidosis, Type Iiic according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
2
Show member pathways
12.55 SGSH NAGLU IDUA IDS GNS ARSB
3
Show member pathways
12.28 SGSH NAGLU IDUA IDS ARSB
4
Show member pathways
12.11 SUMF1 ARSK ARSG ARSB
5
Show member pathways
11.59 SUMF1 ARSK ARSG ARSB
6 11.51 SUMF1 SGSH NAGLU MFSD8 LAMP2 IDUA
7
Show member pathways
10.86 SGSH NAGLU IDUA IDS HGSNAT GNS

GO Terms for Mucopolysaccharidosis, Type Iiic

Cellular components related to Mucopolysaccharidosis, Type Iiic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.87 SGSH NAGLU LAMP2 IDUA GNS GALNS
2 endoplasmic reticulum lumen GO:0005788 9.56 SUMF1 ARSK ARSG ARSB
3 lysosomal lumen GO:0043202 9.56 SGSH NAGLU LAMP2 IDUA IDS GNS
4 lysosome GO:0005764 9.36 SGSH NAGLU MFSD8 LAMP2 IDUA IDS
5 azurophil granule lumen GO:0035578 9.33 GNS GALNS ARSB

Biological processes related to Mucopolysaccharidosis, Type Iiic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.65 LAMP2 HGSNAT GNS GALNS ARSB
2 autophagosome maturation GO:0097352 9.46 MFSD8 LAMP2
3 lysosomal transport GO:0007041 9.43 HGSNAT ARSB
4 heparan sulfate proteoglycan biosynthetic process GO:0015012 9.4 EXTL3 EXTL2
5 glycosaminoglycan metabolic process GO:0030203 9.37 SGSH GNS
6 lysosome organization GO:0007040 9.33 NAGLU MFSD8 ARSB
7 keratan sulfate catabolic process GO:0042340 9.32 GNS GALNS
8 chondroitin sulfate catabolic process GO:0030207 9.13 IDUA IDS ARSB
9 glycosaminoglycan catabolic process GO:0006027 9.1 SGSH NAGLU IDUA IDS HGSNAT GNS

Molecular functions related to Mucopolysaccharidosis, Type Iiic according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.16 SUMF1 SGSH IDS GNS GALNS EXTL3
2 hydrolase activity GO:0016787 9.91 SGSH NAGLU IDUA IDS GNS GALNS
3 catalytic activity GO:0003824 9.7 SGSH IDS GNS GALNS ARSK ARSG
4 glycosaminoglycan binding GO:0005539 9.5 SGSH GNS EXTL2
5 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.43 SGSH GNS
6 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
7 glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity GO:0001888 9.37 EXTL3 EXTL2
8 arylsulfatase activity GO:0004065 9.26 GALNS ARSK ARSG ARSB
9 sulfuric ester hydrolase activity GO:0008484 9.17 SGSH IDS GNS GALNS ARSK ARSG

Sources for Mucopolysaccharidosis, Type Iiic

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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