MCID: MCP001
MIFTS: 60

Mucopolysaccharidosis Iii

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

Aliases & Classifications for Mucopolysaccharidosis Iii

MalaCards integrated aliases for Mucopolysaccharidosis Iii:

Name: Mucopolysaccharidosis Iii 38 12 25 44 15 73
Mucopolysaccharidosis Type Iii 53 25 59 37 6
Sanfilippo Syndrome 76 53 25 29 6
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 mucopolysaccharidosis type iii, is related to mucopolysaccharidosis, type iiia and mucopolysaccharidosis, type iiib, and has symptoms including diarrhea, seizures and joint stiffness. 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, and related phenotypes are inguinal hernia and hearing impairment

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

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

UMLS symptoms related to Mucopolysaccharidosis Iii:


diarrhea, seizures, joint stiffness, 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 NAGLU SCARB2 SGSH SUMF1 B4GALNT1 GNS
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 36)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2,Not Applicable 216503-57-0
2
Benzocaine Approved, Investigational Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
3
Clofarabine Approved, Investigational Phase 2,Not Applicable 123318-82-1 119182
4
Hydroxyurea Approved Phase 2 127-07-1 3657
5
Melphalan Approved Phase 2,Not Applicable 148-82-3 4053 460612
6
Miconazole Approved, Investigational, Vet_approved Phase 2,Not Applicable 22916-47-8 4189
7
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
8
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
9
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
10
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
11 tannic acid Approved, Nutraceutical Phase 2,Not Applicable
12 Alkylating Agents Phase 2,Not Applicable
13 Antifungal Agents Phase 2,Not Applicable
14 Anti-Infective Agents Phase 2,Not Applicable
15 Antimetabolites Phase 2,Not Applicable
16 Antimetabolites, Antineoplastic Phase 2,Not Applicable
17 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
18 Antirheumatic Agents Phase 2,Not Applicable
19 Calcineurin Inhibitors Phase 2,Not Applicable
20 Cyclosporins Phase 2,Not Applicable
21 Dermatologic Agents Phase 2,Not Applicable
22 Immunosuppressive Agents Phase 2,Not Applicable
23 Nucleic Acid Synthesis Inhibitors Phase 2
24 insulin Phase 1, Phase 2
25 Insulin, Globin Zinc Phase 1, Phase 2
26 Mitogens Phase 1, Phase 2
27 Methylprednisolone acetate Phase 1, Phase 2
28 Methylprednisolone Hemisuccinate Phase 1, Phase 2
29 Prednisolone acetate Phase 1, Phase 2
30 Prednisolone hemisuccinate Phase 1, Phase 2
31 Prednisolone phosphate Phase 1, Phase 2
32
Mycophenolate mofetil Approved, Investigational Not Applicable 128794-94-5 5281078
33
Mycophenolic acid Approved Not Applicable 24280-93-1 446541
34 Anti-Bacterial Agents Not Applicable
35 Antibiotics, Antitubercular Not Applicable
36 Antitubercular Agents Not Applicable

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 A Study to Assess the Safety and Tolerability of SOBI003 in Pediatric MPS IIIA Patients Recruiting NCT03423186 Phase 1, Phase 2 SOBI003
9 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH Recruiting NCT02716246 Phase 1, Phase 2
10 Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
11 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
12 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
13 Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome Active, not recruiting NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
14 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2 SBC-103
15 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
16 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
17 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
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 Not Applicable Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
27 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT03227042
28 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998
29 Natural History Study to Characterise the Course of Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Active, not recruiting NCT02293408
30 Ultrasonographic Assessment of Carpal Tunnel Syndrome Enrolling by invitation NCT02196220
31 Biomarker for Sanfilippo Disease Terminated NCT02298686

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, Eye

Publications for Mucopolysaccharidosis Iii

Articles related to Mucopolysaccharidosis Iii:

(show all 29)
# 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
Differential prevalence of antibodies against adeno-associated virus in healthy children and patients with mucopolysaccharidosis III: perspective for AAV-mediated gene therapy. ( 28922943 )
2017
4
Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy. ( 29064732 )
2017
5
Lysosomal storage of heparan sulfate causes mitochondrial defects; altered autophagy and neuronal death in the mouse model of mucopolysaccharidosis III type C. ( 25998837 )
2015
6
Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C. ( 26459666 )
2015
7
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. ( 25567323 )
2015
8
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. ( 25127543 )
2014
9
Mucopolysaccharidosis III (Sanfilippo Syndrome)- disease presentation and experimental therapies. ( 25345095 )
2014
10
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
11
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. ( 19823584 )
2009
12
Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. ( 17185018 )
2007
13
Neurophysiologic assessment of mucopolysaccharidosis III. ( 16884953 )
2006
14
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. ( 15902564 )
2005
15
Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. ( 15083297 )
2004
16
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. ( 10094189 )
1999
17
Mucopolysaccharidosis III (Sanfilippo syndrome) type B: cranial imaging in two cases. ( 9386279 )
1997
18
Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B). ( 8776591 )
1996
19
Precocious puberty in three boys with Sanfilippo A (mucopolysaccharidosis III A). ( 8821908 )
1995
20
Dentistry for the at-risk patient--mucopolysaccharidosis III (Sanfilippo syndrome): a nine-year case study. ( 2124225 )
1990
21
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. ( 6231143 )
1984
22
Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. ( 6411475 )
1983
23
Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III. ( 6807676 )
1982
24
Sanfilippo A syndrome (mucopolysaccharidosis III A): a neurochemical study. ( 6800974 )
1981
25
Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. ( 108106 )
1979
26
Sanfilippo syndrome: a case report of mucopolysaccharidosis III A. ( 117063 )
1979
27
Characterization of glycosaminoglycans stored in mucopolysaccharidosis III A: evidence for a generally occuring degradation of heparan sulfate by endoglycosidases. ( 411726 )
1977
28
Obliterated pulp cavities in the Sanfilippo syndrome (mucopolysaccharidosis III). ( 404602 )
1977
29
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 top 50) (show all 448)
# Gene Variation Type Significance SNP ID Assembly Location
1 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh37 Chromosome 8, 43014064: 43014064
2 HGSNAT NM_152419.2(HGSNAT): c.372-2A> G single nucleotide variant Pathogenic rs483352896 GRCh38 Chromosome 8, 43158921: 43158921
3 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs104894590 GRCh37 Chromosome 17, 40696045: 40696045
4 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs104894590 GRCh38 Chromosome 17, 42544027: 42544027
5 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh37 Chromosome 17, 40695900: 40695900
6 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh38 Chromosome 17, 42543882: 42543882
7 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs104894592 GRCh37 Chromosome 17, 40693092: 40693092
8 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs104894592 GRCh38 Chromosome 17, 42541074: 42541074
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.1928G> A (p.Arg643His) single nucleotide variant Pathogenic rs104894593 GRCh38 Chromosome 17, 42543934: 42543934
11 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh37 Chromosome 17, 40689535: 40689544
12 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh38 Chromosome 17, 42537517: 42537526
13 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh37 Chromosome 17, 40695951: 40695951
14 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh38 Chromosome 17, 42543933: 42543933
15 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh37 Chromosome 17, 40695586: 40695586
16 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh38 Chromosome 17, 42543568: 42543568
17 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh37 Chromosome 17, 40695717: 40695717
18 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh38 Chromosome 17, 42543699: 42543699
19 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Likely pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
20 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Likely pathogenic rs104894598 GRCh38 Chromosome 17, 42543700: 42543700
21 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh37 Chromosome 17, 40688432: 40688432
22 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh38 Chromosome 17, 42536414: 42536414
23 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh37 Chromosome 17, 40693145: 40693145
24 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh38 Chromosome 17, 42541127: 42541127
25 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs104894596 GRCh37 Chromosome 17, 40695468: 40695468
26 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs104894596 GRCh38 Chromosome 17, 42543450: 42543450
27 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh37 Chromosome 17, 40690709: 40690709
28 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh38 Chromosome 17, 42538691: 42538691
29 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh37 Chromosome 17, 78187614: 78187614
30 SGSH NM_000199.3(SGSH): c.734G> A (p.Arg245His) single nucleotide variant Pathogenic rs104894635 GRCh38 Chromosome 17, 80213815: 80213815
31 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh37 Chromosome 17, 78190883: 78190883
32 SGSH NM_000199.3(SGSH): c.197C> G (p.Ser66Trp) single nucleotide variant Pathogenic rs104894637 GRCh38 Chromosome 17, 80217084: 80217084
33 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh37 Chromosome 17, 78185927: 78185927
34 SGSH NM_000199.3(SGSH): c.892T> C (p.Ser298Pro) single nucleotide variant Pathogenic rs138504221 GRCh38 Chromosome 17, 80212128: 80212128
35 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
36 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic rs104894598 GRCh38 Chromosome 17, 42543700: 42543700
37 NAGLU NM_000263.3(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 GRCh37 Chromosome 17, 40695970: 40695970
38 NAGLU NM_000263.3(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 GRCh38 Chromosome 17, 42543952: 42543952
39 NAGLU NM_000263.3(NAGLU): c.1949G> A (p.Gly650Glu) single nucleotide variant Pathogenic rs527236037 GRCh37 Chromosome 17, 40695973: 40695973
40 NAGLU NM_000263.3(NAGLU): c.1949G> A (p.Gly650Glu) single nucleotide variant Pathogenic rs527236037 GRCh38 Chromosome 17, 42543955: 42543955
41 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh37 Chromosome 8, 43054644: 43054644
42 HGSNAT NM_152419.2(HGSNAT): c.1840G> A (p.Val614Ile) single nucleotide variant Benign/Likely benign rs73675469 GRCh38 Chromosome 8, 43199501: 43199501
43 GNS NM_002076.3(GNS): c.4C> T (p.Arg2Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200441930 GRCh37 Chromosome 12, 65153053: 65153053
44 GNS NM_002076.3(GNS): c.4C> T (p.Arg2Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs200441930 GRCh38 Chromosome 12, 64759273: 64759273
45 NAGLU NM_000263.3(NAGLU): c.944dupA (p.Asn315Lysfs) duplication Pathogenic rs797044751 GRCh37 Chromosome 17, 40693147: 40693147
46 NAGLU NM_000263.3(NAGLU): c.944dupA (p.Asn315Lysfs) duplication Pathogenic rs797044751 GRCh38 Chromosome 17, 42541129: 42541129
47 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh37 Chromosome 17, 78184733: 78184733
48 SGSH NM_000199.3(SGSH): c.1027dupC (p.Leu343Profs) duplication Pathogenic rs778700037 GRCh38 Chromosome 17, 80210934: 80210934
49 NAGLU NM_000263.3(NAGLU): c.421T> A (p.Ser141Thr) single nucleotide variant Benign/Likely benign rs61737294 GRCh37 Chromosome 17, 40689453: 40689453
50 NAGLU NM_000263.3(NAGLU): c.421T> A (p.Ser141Thr) single nucleotide variant Benign/Likely benign rs61737294 GRCh38 Chromosome 17, 42537435: 42537435

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 metabolic process GO:0008152 9.46 ARSH GNS NAGLU SGSH
2 glycosphingolipid metabolic process GO:0006687 9.13 ARSH B4GALNT1 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
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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