MCID: MCP001
MIFTS: 56

Mucopolysaccharidosis Iii

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

Aliases & Classifications for Mucopolysaccharidosis Iii

MalaCards integrated aliases for Mucopolysaccharidosis Iii:

Name: Mucopolysaccharidosis Iii 37 12 24 41 14 69
Mucopolysaccharidosis Type Iii 49 24 55 36
Sanfilippo Syndrome 72 49 24 28
Mucopolysaccharidosis Type 3 72 49 55
Mucopolysaccharidosis, Mps-Iii-B 12 28
Mucopolysaccharidosis Type Iiia 12 69
Sanfilippo Disease 49 55
Mpsiii 49 55
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 49
Sanfilippo Syndrome a 12
Sanfilippo Syndrome B 12
Sanfilippo's Syndrome 12
Sanfilippos Syndrome 51
Naglu Deficiency 12
Mps Iii B 69
Mps Iii 24
Mps3 55

Characteristics:

Orphanet epidemiological data:

55
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 : 49 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 Last updated: 7/7/2011

MalaCards based summary : Mucopolysaccharidosis Iii, also known as mucopolysaccharidosis type iii, is related to mucopolysaccharidosis, type iiia and mucopolysaccharidosis-plus syndrome, and has symptoms including inguinal hernia, hearing impairment and chronic otitis media. 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 alemtuzumab and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone.

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 : 24 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.

Related Diseases for Mucopolysaccharidosis Iii

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:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 inguinal hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000023
2 hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000365
3 chronic otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000389
4 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
5 myopia 55 31 frequent (33%) Frequent (79-30%) HP:0000545
6 abnormality of the ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000772
7 abnormality of the clavicle 55 31 frequent (33%) Frequent (79-30%) HP:0000889
8 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
9 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
10 hypertonia 55 31 frequent (33%) Frequent (79-30%) HP:0001276
11 hip dysplasia 55 31 frequent (33%) Frequent (79-30%) HP:0001385
12 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
13 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
14 vocal cord paresis 55 31 frequent (33%) Frequent (79-30%) HP:0001604
15 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
16 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
17 coarse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0002208
18 generalized hirsutism 55 31 hallmark (90%) Very frequent (99-80%) HP:0002230
19 hepatomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002240
20 sleep disturbance 55 31 hallmark (90%) Very frequent (99-80%) HP:0002360
21 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
22 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
23 genu valgum 55 31 frequent (33%) Frequent (79-30%) HP:0002857
24 abnormal form of the vertebral bodies 55 31 frequent (33%) Frequent (79-30%) HP:0003312
25 craniofacial hyperostosis 55 31 frequent (33%) Frequent (79-30%) HP:0004493
26 intellectual disability, progressive 55 31 hallmark (90%) Very frequent (99-80%) HP:0006887
27 corneal opacity 55 31 frequent (33%) Frequent (79-30%) HP:0007957
28 mucopolysacchariduria 55 31 hallmark (90%) Very frequent (99-80%) HP:0008155
29 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864

UMLS symptoms related to Mucopolysaccharidosis Iii:


joint stiffness, sleep disturbances, seizures, diarrhea

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
3
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2 148-82-3 460612 4053
6
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
7
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
8 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
10
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
11 tannic acid Approved, Nutraceutical Phase 2
12 Alkylating Agents Phase 2
13 Antifungal Agents Phase 2
14 Anti-Infective Agents Phase 2
15 Antimetabolites Phase 2
16 Antimetabolites, Antineoplastic Phase 2
17 Antirheumatic Agents Phase 2
18 Calcineurin Inhibitors Phase 2
19 Cyclosporins Phase 2
20 Dermatologic Agents Phase 2
21 Immunosuppressive Agents Phase 2
22 Nucleic Acid Synthesis Inhibitors Phase 2
23 insulin Phase 1, Phase 2
24 Insulin, Globin Zinc Phase 1, Phase 2
25 Mitogens Phase 1, Phase 2
26 Methylprednisolone acetate Phase 1, Phase 2
27 Methylprednisolone Hemisuccinate Phase 1, Phase 2
28 Prednisolone acetate Phase 1, Phase 2
29 Prednisolone hemisuccinate Phase 1, Phase 2
30 Prednisolone phosphate Phase 1, Phase 2
31
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
32
Mycophenolic acid Approved 24280-93-1 446541
33 Anti-Bacterial Agents
34 Antibiotics, Antitubercular
35 Antitubercular Agents

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
2 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
3 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]
4 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Completed NCT02053064 Phase 1, Phase 2
5 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
6 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
7 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
8 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH Recruiting NCT02716246 Phase 1, Phase 2
9 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
10 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
11 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 Active, not recruiting NCT02618512 Phase 1, Phase 2 SBC-103
12 Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome Active, not recruiting NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
13 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2 SBC-103
14 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
15 An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093. Enrolling by invitation NCT02350816 Phase 2 HGT-1410
16 Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB Enrolling by invitation NCT03315182 Phase 1, Phase 2
17 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients Not yet recruiting NCT03423186 Phase 1, Phase 2 SOBI003
18 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
19 Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
20 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
21 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
22 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
23 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
24 Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging Completed NCT02090179
25 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Completed NCT03161171
26 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
27 Biomarker for Sanfilippo Disease Recruiting NCT02298686
28 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT02493998
29 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT03227042
30 Natural History Study to Characterise the Course of Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Active, not recruiting NCT02293408
31 Ultrasonographic Assessment of Carpal Tunnel Syndrome Enrolling by invitation NCT02196220

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 28 NAGLU
2 Sanfilippo Syndrome 28

Anatomical Context for Mucopolysaccharidosis Iii

MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

38
Brain, Spinal Cord, Bone, Eye

Publications for Mucopolysaccharidosis Iii

Articles related to Mucopolysaccharidosis Iii:

(show all 27)
# Title Authors Year
1
Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. ( 29064732 )
2017
2
Differential prevalence of antibodies against adeno-associated virus in healthy children and patients with mucopolysaccharidosis III: perspective for AAV-mediated gene therapy. ( 28922943 )
2017
3
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C. ( 26459666 )
2015
4
Lysosomal storage of heparan sulfate causes mitochondrial defects; altered autophagy and neuronal death in the mouse model of mucopolysaccharidosis III type C. ( 25998837 )
2015
5
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. ( 25567323 )
2015
6
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. ( 25345095 )
2014
7
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. ( 25127543 )
2014
8
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
9
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. ( 19823584 )
2009
10
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. ( 17185018 )
2007
11
Neurophysiologic assessment of mucopolysaccharidosis III. ( 16884953 )
2006
12
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. ( 15902564 )
2005
13
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. ( 15083297 )
2004
14
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. ( 10094189 )
1999
15
Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases. ( 9386279 )
1997
16
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). ( 8776591 )
1996
17
Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A). ( 8821908 )
1995
18
Dentistry for the at-risk patient--mucopolysaccharidosis III (Sanfilippo syndrome): a nine-year case study. ( 2124225 )
1990
19
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. ( 6231143 )
1984
20
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. ( 6411475 )
1983
21
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. ( 6807676 )
1982
22
Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. ( 6800974 )
1981
23
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A. ( 117063 )
1979
24
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. ( 108106 )
1979
25
Characterization of glycosaminoglycans stored in mucopolysaccharidosis III A: evidence for a generally occuring degradation of heparan sulfate by endoglycosidases. ( 411726 )
1977
26
Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings. ( 405006 )
1977
27
Obliterated pulp cavities in the Sanfilippo syndrome (mucopolysaccharidosis III). ( 404602 )
1977

Variations for Mucopolysaccharidosis Iii

ClinVar genetic disease variations for Mucopolysaccharidosis Iii:

6 (show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
2 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
3 NAGLU NM_000263.3(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 GRCh37 Chromosome 17, 40695970: 40695970
4 NAGLU NM_000263.3(NAGLU): c.1949G> A (p.Gly650Glu) single nucleotide variant Pathogenic rs527236037 GRCh37 Chromosome 17, 40695973: 40695973
5 NAGLU NM_000263.3(NAGLU): c.944dupA (p.Asn315Lysfs) duplication Pathogenic rs797044751 GRCh37 Chromosome 17, 40693147: 40693147
6 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs104894590 GRCh37 Chromosome 17, 40696045: 40696045
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.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894592 GRCh37 Chromosome 17, 40693092: 40693092
9 NAGLU NM_000263.3(NAGLU): c.1928G> A (p.Arg643His) single nucleotide variant Pathogenic rs104894593 GRCh37 Chromosome 17, 40695952: 40695952
10 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh37 Chromosome 17, 40689535: 40689544
11 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh37 Chromosome 17, 40695951: 40695951
12 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh37 Chromosome 17, 40695586: 40695586
13 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh37 Chromosome 17, 40695717: 40695717
14 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Pathogenic/Likely pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
15 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh37 Chromosome 17, 40688432: 40688432
16 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh37 Chromosome 17, 40693145: 40693145
17 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs104894596 GRCh37 Chromosome 17, 40695468: 40695468
18 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh37 Chromosome 17, 40690709: 40690709
19 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh37 Chromosome 17, 78187614: 78187614
20 NAGLU NM_000263.3(NAGLU): c.480delT (p.Asn160Lysfs) deletion Pathogenic rs886039894 GRCh37 Chromosome 17, 40689512: 40689512
21 NAGLU NM_000263.3(NAGLU): c.1944dupG (p.Trp649Valfs) duplication Pathogenic rs886039895 GRCh37 Chromosome 17, 40695968: 40695968
22 SGSH NM_000199.3(SGSH): c.1135delG (p.Val379Cysfs) deletion Pathogenic rs777956287 GRCh37 Chromosome 17, 78184625: 78184625
23 NAGLU NM_000263.3(NAGLU): c.648dupC (p.Ser217Leufs) duplication Pathogenic rs886043791 GRCh37 Chromosome 17, 40690473: 40690473
24 NAGLU NM_000263.3(NAGLU): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs886043792 GRCh37 Chromosome 17, 40690703: 40690703
25 NAGLU NM_000263.3(NAGLU): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic rs753520553 GRCh37 Chromosome 17, 40689451: 40689451
26 NAGLU NM_000263.3(NAGLU): c.934G> A (p.Asp312Asn) single nucleotide variant Pathogenic rs1052471595 GRCh37 Chromosome 17, 40693137: 40693137

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:

36
# 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
13.33 ARSH GNS HGSNAT HSD17B13 NAGLU SGSH
2 11.19 GNS HGSNAT NAGLU SCARB2 SGSH SUMF1
3
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 metabolic process GO:0008152 9.26 ARSH GNS NAGLU SGSH
2 glycosphingolipid metabolic process GO:0006687 9.16 ARSH SUMF1
3 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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