MPS3
MCID: MCP001
MIFTS: 58

Mucopolysaccharidosis Iii (MPS3) malady

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

Aliases & Classifications for Mucopolysaccharidosis Iii

Aliases & Descriptions for Mucopolysaccharidosis Iii:

Name: Mucopolysaccharidosis Iii 38 12 25 42 14 69
Mucopolysaccharidosis Type Iiia 12 50 24 69
Mucopolysaccharidosis Type Iii 50 25 56
Sanfilippo Syndrome 50 25 29
Heparan Sulfate Sulfatase Deficiency 12 50
Mucopolysaccharidosis, Mps-Iii-B 12 29
Mucopolysaccharidosis Type 3 50 56
Sanfilippo Syndrome Type a 50 24
Sanfilippo Syndrome a 12 50
Sanfilippo Disease 50 56
Mps Iiia 50 24
Mpsiii 50 56
N-Sulphoglucosamine Sulphohydrolase Deficiency 12
N-Acetyl-Alpha-D-Glucosaminidase 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
Heparan Sulfamidase Deficiency 50
Mucopoly-Saccharidosis Type 3a 50
Mucopoly-Saccharidosis Type 3 50
Mucopolysaccharidosis Type 3a 50
Sanfilippo Syndrome B 12
Sanfilippo's Syndrome 12
Sanfilippos Syndrome 52
Naglu Deficiency 12
Mps Iii B 69
Mpsiiia 50
Mps Iii 25
Mps 3a 50
Mps3a 50
Mps3 56

Characteristics:

Orphanet epidemiological data:

56
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:



External Ids:

Disease Ontology 12 DOID:12801
ICD10 33 E76.22
MeSH 42 D009084
Orphanet 56 ORPHA581
MESH via Orphanet 43 D009084
UMLS via Orphanet 70 C0026706 C0086648
ICD10 via Orphanet 34 E76.2

Summaries for Mucopolysaccharidosis Iii

NIH Rare Diseases : 50 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 iiia, is related to heparane sulfamidase deficiency and mucopolysaccharidisis type iiia, and has symptoms including ataxia, seizures and joint stiffness. An important gene associated with Mucopolysaccharidosis Iii is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotype is liver/biliary system.

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

Related Diseases for Mucopolysaccharidosis Iii

Diseases in the Mucopolysaccharidosis family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis Ih Mucopolysaccharidosis is
Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Type Vi
Mucopolysaccharidosis Vii Mucopolysaccharidosis Type Iiic
Mucopolysaccharidosis Type Iiid Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Ii
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 21)
id Related Disease Score Top Affiliating Genes
1 heparane sulfamidase deficiency 12.1
2 mucopolysaccharidisis type iiia 11.5
3 mucopolysaccharidosis type iiib 10.9
4 mucopolysaccharidosis type iiid 10.9
5 mucopolysaccharidosis 10.3
6 intracranial structure hemangioma 9.9 HGSNAT NAGLU SGSH
7 mannosidosis 9.9 HGSNAT NAGLU SGSH
8 neurosarcoidosis 9.9 ARSH NAGLU
9 neuronitis 9.9
10 neuronopathy, distal hereditary motor, type iic 9.9 ARSH SUMF1
11 ectodermal dysplasia, hypohidrotic, with immune deficiency 9.8 ARSH SUMF1
12 chondrodysplasia punctata, x-linked recessive 9.8 ARSH SUMF1
13 mitochondrial dna depletion syndrome 1 9.7 ARSH SUMF1
14 retinitis pigmentosa 9.7
15 dementia 9.7
16 retinitis 9.7
17 precocious puberty 9.7
18 thiamine metabolism dysfunction syndrome 4 9.6 ARSH HGSNAT NAGLU SGSH
19 obesity 9.5 ARSH GNS SGSH SUMF1
20 quadriplegia 9.4 ARSH GNS HGSNAT NAGLU SGSH
21 muscle disorders 9.0 ARSH GNS HGSNAT HSD17B13 NAGLU SGSH

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:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 seizures 56 32 Frequent (79-30%) HP:0001250
3 joint stiffness 56 32 Frequent (79-30%) HP:0001387
4 genu valgum 56 32 Frequent (79-30%) HP:0002857
5 sleep disturbance 56 32 Very frequent (99-80%) HP:0002360
6 developmental regression 56 32 Frequent (79-30%) HP:0002376
7 scoliosis 56 32 Frequent (79-30%) HP:0002650
8 inguinal hernia 56 32 Frequent (79-30%) HP:0000023
9 hearing impairment 56 32 Frequent (79-30%) HP:0000365
10 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
11 cataract 56 32 Frequent (79-30%) HP:0000518
12 hip dysplasia 56 32 Frequent (79-30%) HP:0001385
13 splenomegaly 56 32 Occasional (29-5%) HP:0001744
14 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
15 craniofacial hyperostosis 56 32 Frequent (79-30%) HP:0004493
16 corneal opacity 56 32 Frequent (79-30%) HP:0007957
17 umbilical hernia 56 32 Frequent (79-30%) HP:0001537
18 malabsorption 56 32 Very frequent (99-80%) HP:0002024
19 coarse hair 56 32 Very frequent (99-80%) HP:0002208
20 mucopolysacchariduria 56 32 Very frequent (99-80%) HP:0008155
21 hypertonia 56 32 Frequent (79-30%) HP:0001276
22 intellectual disability, severe 56 32 Very frequent (99-80%) HP:0010864
23 generalized hirsutism 56 32 Very frequent (99-80%) HP:0002230
24 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
25 intellectual disability, progressive 56 32 Very frequent (99-80%) HP:0006887
26 myopia 56 32 Frequent (79-30%) HP:0000545
27 abnormality of the ribs 56 32 Frequent (79-30%) HP:0000772
28 abnormality of the clavicle 56 32 Frequent (79-30%) HP:0000889
29 vocal cord paresis 56 32 Frequent (79-30%) HP:0001604

UMLS symptoms related to Mucopolysaccharidosis Iii:


diarrhea, seizures, joint stiffness, sleep disturbances

MGI Mouse Phenotypes related to Mucopolysaccharidosis Iii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 HGSNAT NAGLU SGSH SUMF1

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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

(show top 50) (show all 51)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 2, Phase 3
2 Hormones Phase 2, Phase 3
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
4
Cyclosporine Approved, Investigational, Vet_approved Phase 2 79217-60-0, 59865-13-3 5284373 6435893
5
Melphalan Approved Phase 2 148-82-3 4053 460612
6
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
7
Hydroxyurea Approved Phase 2 127-07-1 3657
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11
alemtuzumab Approved, Investigational Phase 2 216503-57-0
12
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
13
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
15
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
16
Acetaminophen Approved Phase 2 103-90-2 1983
17
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
18
Vidarabine Approved Phase 2 24356-66-9 32326 21704
19
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
20
Thiotepa Approved Phase 2 52-24-4 5453
21
Promethazine Approved Phase 2 60-87-7 4927
22 tannic acid Approved, Nutraceutical Phase 2
23 Prednisolone acetate Phase 2
24 Alkylating Agents Phase 2
25 Nucleic Acid Synthesis Inhibitors Phase 2
26 Dermatologic Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Prednisolone hemisuccinate Phase 2
29 Prednisolone phosphate Phase 2
30 Anti-Infective Agents Phase 2
31 Immunosuppressive Agents Phase 2
32 Antifungal Agents Phase 2
33 Antilymphocyte Serum Phase 2
34 Antimetabolites Phase 2
35 Antibiotics, Antitubercular Phase 2
36 Antimetabolites, Antineoplastic Phase 2
37 Methylprednisolone acetate Phase 2
38 Methylprednisolone Hemisuccinate Phase 2
39 Antirheumatic Agents Phase 2
40 Antineoplastic Agents, Alkylating Phase 2
41 Calcineurin Inhibitors Phase 2
42 insulin Phase 1, Phase 2
43 Mitogens Phase 1, Phase 2
44 Epinephryl borate Phase 2
45 Insulin, Globin Zinc Phase 1, Phase 2
46 Racepinephrine Phase 2
47 Antiviral Agents Phase 2
48
Mycophenolic acid Approved 24280-93-1 446541
49
Mycophenolate mofetil Approved, Investigational 128794-94-5 5281078
50 Immunoglobulins

Interventional clinical trials:

(show all 36)
id Name Status NCT ID Phase
1 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 Clinical Trial of Growth Hormone in MPS I, II, and VI Terminated NCT00748969 Phase 2, Phase 3
4 Safety, Tolerability, Ascending Dose and Dose Frequency Study of rhHNS Via an IDDD in MPS IIIA Patients Completed NCT01155778 Phase 1, Phase 2
5 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
6 Intracerebral Gene Therapy for Sanfilippo Type A Syndrome Completed NCT01474343 Phase 1, Phase 2
7 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2
8 Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome) Completed NCT00004454 Phase 1, Phase 2
9 Stem Cell Transplantation for Hurler Completed NCT00176917 Phase 2
10 Stem Cell Transplant w/Laronidase for Hurler Completed NCT00176891 Phase 2
11 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2
12 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
13 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
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 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
16 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2
17 Long-term Follow-up of Sanfilippo Type A Patients Treated by Intracerebral SAF-301 Gene Therapy Active, not recruiting NCT02053064 Phase 1, Phase 2
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 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
20 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
21 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
22 Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
23 A Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
24 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
25 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
26 Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging Completed NCT02090179
27 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092
28 A Study to Test the Possibility of Cross Reaction Induced by the Idursulfase Drug to GSK2788723 Completed NCT01602601
29 Biomarker for Sanfilippo Disease Recruiting NCT02298686
30 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT02493998
31 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Recruiting NCT01938014
32 Natural History Study of Patients With MPS IIIA Recruiting NCT02746341
33 Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome Recruiting NCT01572636
34 Natural History Study to Characterise the Course of Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Active, not recruiting NCT02293408
35 Ultrasonographic Assessment of Carpal Tunnel Syndrome Enrolling by invitation NCT02196220
36 Parental Coping With Challenging Behavior in Mucopolysaccharidosis Type I-III Not yet recruiting NCT03161171

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:

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

Anatomical Context for Mucopolysaccharidosis Iii

MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

39
Brain, Spinal Cord, Bone, Eye

Publications for Mucopolysaccharidosis Iii

Articles related to Mucopolysaccharidosis Iii:

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

Variations for Mucopolysaccharidosis Iii

ClinVar genetic disease variations for Mucopolysaccharidosis Iii:

6 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs104894590 GRCh37 Chromosome 17, 40696045: 40696045
2 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh37 Chromosome 17, 40695900: 40695900
3 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs104894592 GRCh37 Chromosome 17, 40693092: 40693092
4 NAGLU NM_000263.3(NAGLU): c.1928G> A (p.Arg643His) single nucleotide variant Pathogenic rs104894593 GRCh37 Chromosome 17, 40695952: 40695952
5 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh37 Chromosome 17, 40689535: 40689544
6 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh37 Chromosome 17, 40695951: 40695951
7 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh37 Chromosome 17, 40695586: 40695586
8 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh37 Chromosome 17, 40695717: 40695717
9 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
10 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh37 Chromosome 17, 40688432: 40688432
11 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh37 Chromosome 17, 40693145: 40693145
12 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs104894596 GRCh37 Chromosome 17, 40695468: 40695468
13 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh37 Chromosome 17, 40690709: 40690709
14 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh37 Chromosome 17, 78187614: 78187614
15 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
16 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
17 NAGLU NM_000263.3(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 GRCh37 Chromosome 17, 40695970: 40695970
18 NAGLU NM_000263.3(NAGLU): c.1949G> A (p.Gly650Glu) single nucleotide variant Pathogenic rs527236037 GRCh37 Chromosome 17, 40695973: 40695973
19 NAGLU NM_000263.3(NAGLU): c.944dupA (p.Asn315Lysfs) duplication Pathogenic rs797044751 GRCh37 Chromosome 17, 40693147: 40693147
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 GRCh38 Chromosome 17, 42537433: 42537433

Expression for Mucopolysaccharidosis Iii

Search GEO for disease gene expression data for Mucopolysaccharidosis Iii.

Pathways for Mucopolysaccharidosis Iii

GO Terms for Mucopolysaccharidosis Iii

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.13 GNS NAGLU SGSH
2 lysosomal lumen GO:0043202 8.8 GNS NAGLU SGSH

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.26 ARSH GNS NAGLU SGSH
2 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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