MPS3
MCID: MCP001
MIFTS: 63

Mucopolysaccharidosis Iii (MPS3)

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 Iii

MalaCards integrated aliases for Mucopolysaccharidosis Iii:

Name: Mucopolysaccharidosis Iii 38 12 25 44 15 73
Sanfilippo Syndrome 76 53 25 29 6
Mucopolysaccharidosis Type Iii 53 25 59 37
Mucopolysaccharidosis, Mps-Iii-B 12 29 6
Mucopolysaccharidosis Type 3 76 53 59
Mucopolysaccharidosis Type Iiia 12 73
Sanfilippo Disease 53 59
Mpsiii 53 59
N-Sulphoglucosamine Sulphohydrolase Deficiency 12
N-Acetyl-Alpha-D-Glucosaminidase Deficiency 12
Heparan Sulfate Sulfatase Deficiency 12
Mps Iiia - Sanfilippo Syndrome a 12
Mps Iiib - Sanfilippo Syndrome B 12
Mps Iiic - Sanfilippo Syndrome C 12
Mps Iiid - Sanfilippo Syndrome D 12
Mucopolysaccharidosis Type Iiib 12
Mucopolysaccharidosis, Mps-Iii 12
Mucopoly-Saccharidosis Type 3 53
Sanfilippo Syndrome a 12
Sanfilippo Syndrome B 12
Sanfilippo's Syndrome 12
Sanfilippos Syndrome 55
Naglu Deficiency 12
Mps Iii B 73
Mps Iii 25
Mps3 59

Characteristics:

Orphanet epidemiological data:

59
mucopolysaccharidosis type 3
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Germany),1-9/1000000 (Portugal),1-9/100000 (Netherlands),1-9/100000 (Australia),1-9/1000000 (Czech Republic),1-9/1000000 (Sweden),1-9/100000 (Sweden),1-9/1000000 (Norway),1-9/1000000 (Denmark),1-9/1000000 (Ireland),1-9/1000000 (Canada),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (Tunisia),1-9/1000000 (Europe),1-9/1000000 (Poland); Age of onset: Childhood;

Classifications:



Summaries for Mucopolysaccharidosis Iii

NIH Rare Diseases : 53 Mucopolysaccharidosis type III (MPS III) is a 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 III is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS III live into their teenage years, and some live longer. MPS III is divided into four subtypes, known as A, B, C and D. Each subtype is caused by the alteration of a different enzyme needed to completely break down heparan sulfate. The different types of MPS III have similar signs and symptoms, although type A is the most severe.To view the GARD pages on the subtypes of MPS III, click on the following links: Mucopolysaccharidosis type IIIA Mucopolysaccharidosis type IIIB Mucopolysaccharidosis type IIIC Mucopolysaccharidosis type IIID

MalaCards based summary : Mucopolysaccharidosis Iii, also known as sanfilippo syndrome, is related to mucopolysaccharidosis, type iiia and mucopolysaccharidoses, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis Iii is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs lysine and Clofarabine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are genu valgum and seizures

Disease Ontology : 12 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain.

Genetics Home Reference : 25 Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). Other body systems can also be involved.

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

Related Diseases for Mucopolysaccharidosis Iii

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
Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis Iii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iiia 32.8 ARSH NAGLU SGSH
2 mucopolysaccharidoses 30.0 ARSH NAGLU
3 mucopolysaccharidosis-plus syndrome 29.9 ARSH GNS NAGLU SGSH
4 lysosomal storage disease 29.6 HGSNAT NAGLU SGSH SUMF1
5 mucopolysaccharidosis, type iiib 11.3
6 n acetyltransferase deficiency 11.2
7 mucopolysaccharidosis, type iiic 11.2
8 mucopolysaccharidosis, type iiid 11.2
9 retinal degeneration 10.1
10 anxiety 10.0
11 kluver-bucy syndrome 10.0 HGSNAT NAGLU SGSH
12 mucopolysaccharidosis, type vi 10.0 ARSH SUMF1
13 ichthyosis, x-linked 10.0 ARSH SUMF1
14 attention deficit-hyperactivity disorder 9.9
15 wilson disease 9.9
16 d-2-hydroxyglutaric aciduria 1 9.9
17 homocysteinemia 9.9
18 hurler syndrome 9.9
19 butyrylcholinesterase deficiency 9.9
20 glycogen storage disease 9.9
21 thalassemia 9.9
22 2-hydroxyglutaric aciduria 9.9
23 epilepsy 9.9
24 early myoclonic encephalopathy 9.9
25 depression 9.9
26 metachromatic leukodystrophy 9.9 ARSH SUMF1
27 autism 9.9
28 autism spectrum disorder 9.9
29 retinitis pigmentosa 9.9
30 leber congenital amaurosis 4 9.9
31 dementia 9.9
32 retinitis 9.9
33 precocious puberty 9.9
34 multiple sulfatase deficiency 9.8 ARSH GNS SGSH SUMF1

Graphical network of the top 20 diseases related to Mucopolysaccharidosis Iii:



Diseases related to Mucopolysaccharidosis Iii

Symptoms & Phenotypes for Mucopolysaccharidosis Iii

Human phenotypes related to Mucopolysaccharidosis Iii:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
2 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
3 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
4 sleep disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0002360
5 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 inguinal hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000023
8 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
9 chronic otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000389
10 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
11 hip dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0001385
12 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
13 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
14 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
15 corneal opacity 59 32 frequent (33%) Frequent (79-30%) HP:0007957
16 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
17 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
18 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
19 coarse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002208
20 mucopolysacchariduria 59 32 hallmark (90%) Very frequent (99-80%) HP:0008155
21 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
22 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
23 generalized hirsutism 59 32 hallmark (90%) Very frequent (99-80%) HP:0002230
24 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
25 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
26 intellectual disability, progressive 59 32 hallmark (90%) Very frequent (99-80%) HP:0006887
27 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
28 abnormality of the clavicle 59 32 frequent (33%) Frequent (79-30%) HP:0000889
29 vocal cord paresis 59 32 frequent (33%) Frequent (79-30%) HP:0001604

UMLS symptoms related to Mucopolysaccharidosis Iii:


seizures, joint stiffness, diarrhea, sleep disturbances

MGI Mouse Phenotypes related to Mucopolysaccharidosis Iii:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 B4GALNT1 GNS HGSNAT NAGLU SCARB2 SGSH
2 hematopoietic system MP:0005397 9.87 B4GALNT1 GNS HGSNAT NAGLU SCARB2 SGSH
3 immune system MP:0005387 9.86 B4GALNT1 CYP26B1 GNS HGSNAT NAGLU SCARB2
4 mortality/aging MP:0010768 9.76 B4GALNT1 CYP26B1 GNS HGSNAT NAGLU SCARB2
5 nervous system MP:0003631 9.5 B4GALNT1 GNS HGSNAT NAGLU SCARB2 SGSH
6 renal/urinary system MP:0005367 9.02 B4GALNT1 HGSNAT NAGLU SCARB2 SGSH

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 lysine Phase 2, Phase 3
2
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
3 tannic acid Approved Phase 2,Not Applicable
4
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
5
Benzocaine Approved, Investigational Phase 2,Not Applicable 94-09-7, 1994-09-7 2337
6
Hydroxyurea Approved Phase 2 127-07-1 3657
7
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
8
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
9
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
10
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
11
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
12
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
13
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
14
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
15
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
16 Cyclosporins Phase 2,Not Applicable
17 Antifungal Agents Phase 2,Not Applicable
18 Dermatologic Agents Phase 2,Not Applicable
19 Antirheumatic Agents Phase 2,Not Applicable
20 Calcineurin Inhibitors Phase 2,Not Applicable
21 Antimetabolites, Antineoplastic Phase 2,Not Applicable
22 Immunologic Factors Phase 2,Not Applicable
23 Nucleic Acid Synthesis Inhibitors Phase 2
24 Alkylating Agents Phase 2,Not Applicable
25 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
26 Antimetabolites Phase 2,Not Applicable
27 Anti-Infective Agents Phase 2,Not Applicable
28 Immunosuppressive Agents Phase 2,Not Applicable
29 insulin Phase 1, Phase 2
30 Insulin, Globin Zinc Phase 1, Phase 2
31 Mitogens Phase 1, Phase 2
32 Methylprednisolone acetate Phase 1, Phase 2
33 Prednisolone acetate Phase 1, Phase 2
34
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
35 Antibiotics, Antitubercular Not Applicable
36 Antitubercular Agents Not Applicable
37 Anti-Bacterial Agents Not Applicable

Interventional clinical trials:

(show all 35)
# Name Status NCT ID Phase Drugs
1 Study of AAVrh10-h.SGSH Gene Therapy in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) Recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB) Completed NCT02324049 Phase 1, Phase 2 SBC-103
4 Randomized, Controlled, Open-label, Multicenter, Safety and Efficacy Study of rhHNS Administration Via an IDDD in Pediatric Patients With Early Stage MPS IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]
5 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
6 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
7 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
8 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
9 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
10 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients Recruiting NCT03423186 Phase 1, Phase 2 SOBI003
11 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH Recruiting NCT02716246 Phase 1, Phase 2
12 Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
13 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
14 Extension of Study HGT-SAN-055 Evaluating Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Active, not recruiting NCT01299727 Phase 1, Phase 2
15 Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome Active, not recruiting NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
16 An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. Active, not recruiting NCT02350816 Phase 2 HGT-1410
17 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
18 A Treatment Extension Study of Mucopolysaccharidosis Type IIIB Enrolling by invitation NCT03784287 Phase 2 BMN 250
19 A Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients Not yet recruiting NCT03811028 Phase 1, Phase 2 SOBI003
20 A 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 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
22 Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
23 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
24 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
25 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
26 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
27 Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging Completed NCT02090179
28 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Completed NCT03161171
29 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
30 Biomarker for Sanfilippo Type A-B-C-D Disease Sanfilippo Type A-B-C-D [MPS III] Recruiting NCT02298686
31 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT03227042
32 Cellular Pharmacodynamics of Small Molecules in Lysosomal Storage Disorders Recruiting NCT03812055
33 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998
34 Ultrasonographic Assessment of Carpal Tunnel Syndrome Enrolling by invitation NCT02196220
35 Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB Terminated NCT02293408

Search NIH Clinical Center for Mucopolysaccharidosis Iii

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Mucopolysaccharidosis Iii cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: mucopolysaccharidosis iii

Genetic Tests for Mucopolysaccharidosis Iii

Genetic tests related to Mucopolysaccharidosis Iii:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis, Mps-Iii-B 29 NAGLU
2 Sanfilippo Syndrome 29

Anatomical Context for Mucopolysaccharidosis Iii

MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

41
Brain, Spinal Cord, Bone, Skin, Liver, Eye, Bone Marrow

Publications for Mucopolysaccharidosis Iii

Articles related to Mucopolysaccharidosis Iii:

(show top 50) (show all 117)
# Title Authors Year
1
A novel mutation in the NAGLU gene associated with Sanfilippo syndrome type B (mucopolysaccharidosis III B). ( 29881562 )
2018
2
Natural history of echocardiographic abnormalities in mucopolysaccharidosis III. ( 29735373 )
2018
3
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. ( 30006231 )
2018
4
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. ( 30070758 )
2018
5
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. ( 28911234 )
2018
6
Moderate hyperhomocysteinemia along with increased levels of B12 in a 21-y boy with the Sanfilippo syndrome in poor nutritional status. ( 29616922 )
2018
7
Predominant role of microglia in brain iron retention in Sanfilippo syndrome, a pediatric neurodegenerative disease. ( 29624734 )
2018
8
Epidemiology of Sanfilippo syndrome: results of a systematic literature review. ( 29631636 )
2018
9
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. ( 29661560 )
2018
10
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial. ( 30528227 )
2018
11
Differential prevalence of antibodies against adeno-associated virus in healthy children and patients with mucopolysaccharidosis III: perspective for AAV-mediated gene therapy. ( 28922943 )
2017
12
Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. ( 29064732 )
2017
13
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia. ( 27733599 )
2017
14
Delivery of anesthesia for children with Mucopolysaccharidosis Type III (Sanfilippo syndrome): a review of 86 anesthetics. ( 28098417 )
2017
15
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice. ( 28418018 )
2017
16
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome. ( 28451919 )
2017
17
Axonal dystrophy in the brain of mice with Sanfilippo syndrome. ( 28601604 )
2017
18
Mortality in patients with Sanfilippo syndrome. ( 29061114 )
2017
19
Emergency anaesthesia in adult patients with Sanfilippo syndrome. ( 26626437 )
2016
20
A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome. ( 26975339 )
2016
21
External genitalia hypertrophy in an adolescent girl with Sanfilippo syndrome. ( 27636868 )
2016
22
Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind? ( 27857809 )
2016
23
Lysosomal storage of heparan sulfate causes mitochondrial defects; altered autophagy and neuronal death in the mouse model of mucopolysaccharidosis III type C. ( 25998837 )
2015
24
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C. ( 26459666 )
2015
25
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. ( 25567323 )
2015
26
Oxidative stress is independent of inflammation in the neurodegenerative Sanfilippo syndrome type B. ( 25332157 )
2015
27
Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. ( 25770355 )
2015
28
Sanfilippo syndrome: causes, consequences, and treatments. ( 26648750 )
2015
29
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. ( 25127543 )
2014
30
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. ( 25345095 )
2014
31
Hyperactivity, unexplained speech delay, and coarse facies--is it Sanfilippo syndrome? ( 23761035 )
2014
32
Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. ( 24190801 )
2014
33
Natural history of Sanfilippo syndrome type A. ( 24271936 )
2014
34
Tachypnea of infancy as the first sign of Sanfilippo syndrome. ( 25113300 )
2014
35
Repeated administrations of human umbilical cord blood cells improve disease outcomes in a mouse model of Sanfilippo syndrome type III B. ( 25565636 )
2014
36
Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID). ( 23151683 )
2013
37
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. ( 23336697 )
2013
38
Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice. ( 23535899 )
2013
39
Natural history of Sanfilippo syndrome in Spain. ( 24314109 )
2013
40
New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry. ( 22372747 )
2012
41
Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B. ( 22096577 )
2011
42
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. ( 19823584 )
2009
43
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. ( 19650410 )
2009
44
Psychopharmacological treatment of behavioural problems in Sanfilippo syndrome. ( 21686789 )
2009
45
Sanfilippo syndrome: a mini-review. ( 18392742 )
2008
46
Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A. ( 18410855 )
2008
47
Gene symbol: SGSH. Disease: Sanfilippo syndrome type A. ( 18846687 )
2008
48
Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. ( 24692796 )
2008
49
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. ( 17185018 )
2007
50
Neurophysiologic assessment of mucopolysaccharidosis III. ( 16884953 )
2006

Variations for Mucopolysaccharidosis Iii

ClinVar genetic disease variations for Mucopolysaccharidosis Iii:

6 (show top 50) (show all 632)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh37 Chromosome 8, 43047541: 43047541
2 HGSNAT NM_152419.2(HGSNAT): c.1345dupG (p.Asp449Glyfs) duplication Conflicting interpretations of pathogenicity rs483352894 GRCh38 Chromosome 8, 43192398: 43192398
3 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh37 Chromosome 8, 43014064: 43014064
4 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh38 Chromosome 8, 43158921: 43158921
5 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic/Likely pathogenic rs104894590 GRCh37 Chromosome 17, 40696045: 40696045
6 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic/Likely pathogenic rs104894590 GRCh38 Chromosome 17, 42544027: 42544027
7 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh37 Chromosome 17, 40695900: 40695900
8 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh38 Chromosome 17, 42543882: 42543882
9 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894592 GRCh37 Chromosome 17, 40693092: 40693092
10 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894592 GRCh38 Chromosome 17, 42541074: 42541074
11 NAGLU NM_000263.3(NAGLU): c.1928G> A (p.Arg643His) single nucleotide variant Uncertain significance rs104894593 GRCh37 Chromosome 17, 40695952: 40695952
12 NAGLU NM_000263.3(NAGLU): c.1928G> A (p.Arg643His) single nucleotide variant Uncertain significance rs104894593 GRCh38 Chromosome 17, 42543934: 42543934
13 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh37 Chromosome 17, 40689535: 40689544
14 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh38 Chromosome 17, 42537517: 42537526
15 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh37 Chromosome 17, 40695951: 40695951
16 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh38 Chromosome 17, 42543933: 42543933
17 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh37 Chromosome 17, 40695586: 40695586
18 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh38 Chromosome 17, 42543568: 42543568
19 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh37 Chromosome 17, 40695717: 40695717
20 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh38 Chromosome 17, 42543699: 42543699
21 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Likely pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
22 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Likely pathogenic rs104894598 GRCh38 Chromosome 17, 42543700: 42543700
23 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh37 Chromosome 17, 40688432: 40688432
24 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh38 Chromosome 17, 42536414: 42536414
25 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh37 Chromosome 17, 40693145: 40693145
26 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh38 Chromosome 17, 42541127: 42541127
27 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894596 GRCh37 Chromosome 17, 40695468: 40695468
28 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894596 GRCh38 Chromosome 17, 42543450: 42543450
29 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh37 Chromosome 17, 40690709: 40690709
30 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh38 Chromosome 17, 42538691: 42538691
31 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh37 Chromosome 17, 78187614: 78187614
32 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh38 Chromosome 17, 80213815: 80213815
33 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh37 Chromosome 17, 78190883: 78190883
34 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh38 Chromosome 17, 80217084: 80217084
35 SGSH NM_000199.3(SGSH): c.1339G> A (p.Glu447Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894639 GRCh37 Chromosome 17, 78184421: 78184421
36 SGSH NM_000199.3(SGSH): c.1339G> A (p.Glu447Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894639 GRCh38 Chromosome 17, 80210622: 80210622
37 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
38 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh38 Chromosome 17, 80212128: 80212128
39 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
40 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894598 GRCh38 Chromosome 17, 42543700: 42543700
41 SGSH NM_000199.3(SGSH): c.1081G> A (p.Val361Ile) single nucleotide variant Benign/Likely benign rs9894254 GRCh37 Chromosome 17, 78184679: 78184679
42 SGSH NM_000199.3(SGSH): c.1081G> A (p.Val361Ile) single nucleotide variant Benign/Likely benign rs9894254 GRCh38 Chromosome 17, 80210880: 80210880
43 SGSH NM_000199.3(SGSH): c.1367G> A (p.Arg456His) single nucleotide variant Benign rs7503034 GRCh37 Chromosome 17, 78184393: 78184393
44 SGSH NM_000199.3(SGSH): c.1367G> A (p.Arg456His) single nucleotide variant Benign rs7503034 GRCh38 Chromosome 17, 80210594: 80210594
45 NAGLU NM_000263.3(NAGLU): c.2209C> A (p.Arg737Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs86312 GRCh37 Chromosome 17, 40696233: 40696233
46 NAGLU NM_000263.3(NAGLU): c.2209C> A (p.Arg737Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs86312 GRCh38 Chromosome 17, 42544215: 42544215
47 NAGLU NM_000263.3(NAGLU): c.2209C> G (p.Arg737Gly) single nucleotide variant Benign rs86312 GRCh37 Chromosome 17, 40696233: 40696233
48 NAGLU NM_000263.3(NAGLU): c.2209C> G (p.Arg737Gly) single nucleotide variant Benign rs86312 GRCh38 Chromosome 17, 42544215: 42544215
49 NAGLU NM_000263.3(NAGLU): c.423T> C (p.Ser141=) single nucleotide variant Benign rs659497 GRCh37 Chromosome 17, 40689455: 40689455
50 NAGLU NM_000263.3(NAGLU): c.423T> C (p.Ser141=) single nucleotide variant Benign rs659497 GRCh38 Chromosome 17, 42537437: 42537437

Expression for Mucopolysaccharidosis Iii

Search GEO for disease gene expression data for Mucopolysaccharidosis Iii.

Pathways for Mucopolysaccharidosis Iii

Pathways related to Mucopolysaccharidosis Iii according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

Pathways related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.44 ARSH B4GALNT1 CYP26B1 GNS HGSNAT HSD17B13
2
Show member pathways
11.84 ARSH B4GALNT1 SUMF1
3 11.19 GNS HGSNAT NAGLU SCARB2 SGSH SUMF1
4
Show member pathways
10.56 GNS HGSNAT NAGLU SGSH

GO Terms for Mucopolysaccharidosis Iii

Cellular components related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.26 GNS NAGLU SCARB2 SGSH
2 lysosomal lumen GO:0043202 8.92 GNS NAGLU SCARB2 SGSH

Biological processes related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glycosphingolipid metabolic process GO:0006687 8.96 B4GALNT1 SUMF1
2 glycosaminoglycan catabolic process GO:0006027 8.92 GNS HGSNAT NAGLU SGSH

Molecular functions related to Mucopolysaccharidosis Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 8.8 ARSH GNS SGSH

Sources for Mucopolysaccharidosis Iii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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