MPS3
MCID: MCP001
MIFTS: 69

Mucopolysaccharidosis Iii (MPS3)

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

Aliases & Classifications for Mucopolysaccharidosis Iii

MalaCards integrated aliases for Mucopolysaccharidosis Iii:

Name: Mucopolysaccharidosis Iii 12 43 15 37 70
Sanfilippo Syndrome 73 25 20 43 29 6
Mucopolysaccharidosis Type Iii 25 20 43 58 36
Mucopolysaccharidosis Type 3 73 20 58
Sanfilippo Disease 20 58 6
Mps Iii 25 43
Mpsiii 20 58
N-Sulphoglucosamine Sulphohydrolase Deficiency 12
Heparan Sulfate Sulfatase Deficiency 12
Mucopolysaccharidosis Type Iiia 70
Mucopolysaccharidosis, Mps-Iii 12
Mucopoly-Saccharidosis Type 3 20
Sanfilippo's Syndrome 12
Sanfilippos Syndrome 54
Naglu Deficiency 12
Mps Iii B 70
Mps3 58

Characteristics:

Orphanet epidemiological data:

58
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:

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


Summaries for Mucopolysaccharidosis Iii

MedlinePlus Genetics : 43 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). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.People with MPS III generally do not display any features of the condition at birth, but they begin to show signs and symptoms of the disorder during early childhood. Affected children often initially have delayed speech and behavior problems. They may become restless, destructive, anxious, or aggressive, and some display features of autism spectrum disorder, which is a condition characterized by difficulty with social interactions and communication. Sleep disturbances are also very common in children with MPS III. This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). In later stages of the disorder, people with MPS III may develop seizures and movement disorders.The physical features of MPS III are less pronounced than those of other types of mucopolysaccharidosis. Individuals with MPS III typically have mildly "coarse" facial features, a large head (macrocephaly), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Affected individuals often experience chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also have hearing loss and vision problems.MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are distinguished by their genetic cause. The different types of MPS III have similar signs and symptoms, although the features of MPS IIIA typically appear earlier in life and progress more rapidly. People with MPS III usually live into adolescence or early adulthood.

MalaCards based summary : Mucopolysaccharidosis Iii, also known as sanfilippo syndrome, is related to mucopolysaccharidosis, type iiic and mucopolysaccharidosis, type iiid, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis Iii is SGSH (N-Sulfoglucosamine Sulfohydrolase), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Lysine and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are chronic otitis media and delayed speech and language development

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

GARD : 20 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

KEGG : 36 Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures.

Wikipedia : 73 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

GeneReviews: NBK546574

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

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iiic 32.4 SUMF1 SGSH NAGLU LAMP2 IDUA IDS
2 mucopolysaccharidosis, type iiid 32.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
3 mucopolysaccharidosis, type iiia 32.1 TFEB SUMF1 SLC26A11 SGSH NAGLU M6PR
4 mucopolysaccharidosis, type iiib 31.9 TFEB SUMF1 SGSH NAGLU M6PR LAMP2
5 mucopolysaccharidosis-plus syndrome 30.7 TFEB SUMF1 SGSH NAGLU M6PR LAMP2
6 mucopolysaccharidoses 30.7 SGSH NAGLU IDUA HGSNAT GUSB CARD14
7 charcot-marie-tooth disease, axonal, type 2v 30.6 NAGLU GNPTAB
8 c syndrome 30.5 TFEB M6PR LAMP2 LAMP1 HGSNAT
9 kluver-bucy syndrome 30.5 SGSH NAGLU HGSNAT
10 hurler syndrome 30.4 SUMF1 NAGLU IDUA IDS GUSB GNS
11 mucopolysaccharidosis, type ii 29.9 SUMF1 SGSH NAGLU M6PR LAMP2 IDUA
12 lysosomal storage disease 29.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
13 n acetyltransferase deficiency 11.1
14 mongolian spot 10.4 NAGLU IDUA
15 leukodystrophy 10.4 SUMF1 IDUA ARSH ARSB
16 mannosidosis, alpha b, lysosomal 10.4 SGSH IDUA GUSB
17 morquio syndrome 10.4 GUSB GALNS ARSH
18 phosphatase, acid, of tissues 10.4 LAMP2 LAMP1
19 salla disease 10.4 LAMP2 LAMP1
20 fucosidosis 10.4 NAGLU IDUA GALNS ARSB
21 galactosialidosis 10.4 M6PR IDUA GALNS
22 gm2-gangliosidosis, ab variant 10.4 TFEB LAMP2 GNPTAB
23 multiple sulfatase deficiency 10.4 SUMF1 GNS GALNS ARSH ARSB
24 glycoproteinosis 10.4 LAMP1 GALNS CLN3 ARSB
25 diamond-blackfan anemia 20 10.4 TFEB LAMP2
26 danon disease 10.4 TFEB LAMP2 LAMP1
27 glycogen storage disease ii 10.4 TFEB M6PR LAMP2 IDUA
28 mucolipidosis iii alpha/beta 10.4 NAGLU M6PR GUSB GNPTAB ARSB
29 lysosomal and lipase deficiency 10.4 TFEB M6PR
30 hurler-scheie syndrome 10.4 SUMF1 SGSH NAGLU IDUA GALNS ARSB
31 ceroid lipofuscinosis, neuronal, 7 10.4 SGSH CLN3
32 krabbe disease 10.4 SGSH M6PR IDUA IDS ARSB
33 mucolipidosis iii gamma 10.3 M6PR GNPTAB
34 fabry disease 10.3 M6PR LAMP2 LAMP1 GUSB
35 niemann-pick disease 10.3 TFEB M6PR LAMP1
36 neuronal ceroid lipofuscinosis 10.3 TFEB SGSH M6PR LAMP1 CLN3
37 tay-sachs disease 10.3 TFEB SGSH M6PR IDUA IDS CLN3
38 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.3 IDUA CLN3
39 metachromatic leukodystrophy 10.3 SUMF1 SGSH M6PR IDUA IDS ARSH
40 pityriasis rubra pilaris 10.3 SGSH CARD14
41 ceroid lipofuscinosis, neuronal, 3 10.3 TFEB SUMF1 SGSH NAGLU M6PR LAMP1
42 gm1 gangliosidosis 10.3 SUMF1 SGSH NAGLU M6PR IDUA GALNS
43 sphingolipidosis 10.3 TFEB SUMF1 SGSH M6PR LAMP2 LAMP1
44 mucopolysaccharidosis, type ivb 10.3 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
45 gaucher's disease 10.3 TFEB M6PR LAMP2 LAMP1 IDUA GUSB
46 ceroid lipofuscinosis, neuronal, 10 10.2 SGSH CLN3
47 mucolipidosis ii alpha/beta 10.2 NAGLU M6PR LAMP2 LAMP1 IDUA GUSB
48 mucopolysaccharidosis, type vii 10.2 SGSH NAGLU M6PR IDUA IDS HGSNAT
49 inherited metabolic disorder 10.2
50 mucopolysaccharidosis iv 10.2 SUMF1 SGSH NAGLU M6PR IDUA IDS

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:

58 31 (show top 50) (show all 109)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 chronic otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000389
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
4 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 intellectual disability, progressive 58 31 hallmark (90%) Very frequent (99-80%) HP:0006887
7 generalized hirsutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002230
8 central nervous system degeneration 58 31 hallmark (90%) Very frequent (99-80%) HP:0007009
9 progressive neurologic deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0002344
10 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
11 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
12 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
13 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
14 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
15 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
16 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
17 genu valgum 58 31 frequent (33%) Frequent (79-30%) HP:0002857
18 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
19 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
20 myopia 58 31 frequent (33%) Frequent (79-30%) HP:0000545
21 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
22 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
23 thick hair 58 31 frequent (33%) Frequent (79-30%) HP:0100874
24 vocal cord paresis 58 31 frequent (33%) Frequent (79-30%) HP:0001604
25 heparan sulfate excretion in urine 58 31 frequent (33%) Frequent (79-30%) HP:0002159
26 hyperactivity 58 31 frequent (33%) Frequent (79-30%) HP:0000752
27 recurrent sinopulmonary infections 58 31 frequent (33%) Frequent (79-30%) HP:0005425
28 adenoiditis 58 31 frequent (33%) Frequent (79-30%) HP:0031458
29 brain imaging abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0410263
30 intermittent diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002254
31 abnormal clavicle morphology 31 frequent (33%) HP:0000889
32 recurrent tonsillitis 31 frequent (33%) HP:0011110
33 macrocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000256
34 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
35 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
36 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
37 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
38 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
39 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
40 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
41 macroglossia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000158
42 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
43 hip dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001385
44 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
45 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
46 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
47 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
48 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
49 dysostosis multiplex 58 31 occasional (7.5%) Occasional (29-5%) HP:0000943
50 cardiomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001640

UMLS symptoms related to Mucopolysaccharidosis Iii:


seizures; joint stiffness; diarrhea; sleep disturbances

MGI Mouse Phenotypes related to Mucopolysaccharidosis Iii:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 ARSB CARD14 CLN3 GALNS GNPTAB GNS
2 behavior/neurological MP:0005386 10.44 ARSB CLN3 GNPTAB GNS GUSB HGSNAT
3 growth/size/body region MP:0005378 10.37 ARSB CARD14 CLN3 GNPTAB GUSB HGSNAT
4 hematopoietic system MP:0005397 10.34 ARSB CARD14 CLN3 GNPTAB GNS GUSB
5 cardiovascular system MP:0005385 10.3 ARSB CARD14 GNPTAB HGSNAT IDUA LAMP2
6 homeostasis/metabolism MP:0005376 10.29 ARSB CLN3 GALNS GNPTAB GUSB HGSNAT
7 craniofacial MP:0005382 10.24 ARSB GNPTAB GUSB IDS IDUA LAMP1
8 immune system MP:0005387 10.2 CARD14 CLN3 GNPTAB GNS HGSNAT IDS
9 mortality/aging MP:0010768 10.2 CARD14 CLN3 GNPTAB GNS GUSB HGSNAT
10 integument MP:0010771 10.13 CARD14 GNPTAB GUSB IDS IDUA LAMP1
11 adipose tissue MP:0005375 10.12 ARSB GUSB HGSNAT IDUA LAMP2 SGSH
12 nervous system MP:0003631 10.07 ARSB CLN3 GNPTAB GNS HGSNAT IDS
13 limbs/digits/tail MP:0005371 10.01 ARSB GNPTAB GUSB HGSNAT IDS IDUA
14 hearing/vestibular/ear MP:0005377 9.99 ARSB GUSB IDS IDUA NAGLU TFEB
15 liver/biliary system MP:0005370 9.97 CLN3 HGSNAT IDS IDUA LAMP2 NAGLU
16 renal/urinary system MP:0005367 9.9 ARSB CLN3 GALNS GNPTAB GUSB HGSNAT
17 skeleton MP:0005390 9.8 ARSB GALNS GNPTAB GUSB HGSNAT IDS
18 vision/eye MP:0005391 9.32 ARSB CLN3 GALNS GNPTAB IDS IDUA

Drugs & Therapeutics for Mucopolysaccharidosis Iii

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

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

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
2 Open-label, Single-arm, Multi-center Study of Intracerebral Administration of Adeno-associated Viral (AAV) Serotype rh.10 Carrying Human N-sulfoglucosamine Sulfohydrolase (SGSH) cDNA for Treatment of Mucopolysaccharidosis Type IIIA Active, not recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
3 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT02754076 Phase 1, Phase 2 AX 250
4 A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]
5 Protocol AMT110-CD-001: A Phase I/II, Open-label, Study of Intracerebral Administration of Adeno-associated Viral Vector Containing the Human Alpha-N-acetylglucosaminidase cDNA in Children With Sanfilippo Type B Syndrome Completed NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
6 An Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA Patients Completed NCT03423186 Phase 1, Phase 2 SOBI003
7 A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01155778 Phase 1, Phase 2
8 An Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. Completed NCT01474343 Phase 1, Phase 2
9 Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. Completed NCT02053064 Phase 1, Phase 2
10 Treatment of High Risk, Inherited Lysosomal And Peroxisomal Disorders by Reduced Intensity Hematopoietic Stem Cell Transplantation Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
11 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
12 A Phase I-II, Study of Autologous CD34+ Haematopoietic Stem Cells Transduced ex Vivo With CD11b Lentiviral Vector Encoding for Human SGSH in Patients With Mucopolysaccharidosis Type IIIA (MPS IIIa, Sanfilippo Syndrome Type A) Recruiting NCT04201405 Phase 1, Phase 2 Autologous CD34+ cells transduced with a lentiviral vector containing the human SGSH gene
13 Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
14 Phase I/II Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting NCT02716246 Phase 1, Phase 2
15 A Phase I/II Open Label, Single-dose, Gene Transfer Study of scAAV9.U1a.hSGSH (ABO-102) in Patients With Middle and Advanced Phases of MPS IIIA Disease Recruiting NCT04088734 Phase 1, Phase 2 ABO-102
16 An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients Active, not recruiting NCT03811028 Phase 1, Phase 2 SOBI003
17 A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Active, not recruiting NCT03784287 Phase 2 AX 250
18 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
19 An Open-Label Extension of Study HGT-SAN-093 Evaluating the Safety and Efficacy Study of HGT-1410 (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Mucopolysaccharidosis Type IIIA Disease Terminated NCT02350816 Phase 2 HGT-1410
20 An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Terminated NCT01299727 Phase 1, Phase 2
21 A Phase I/II Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Terminated NCT02618512 Phase 1, Phase 2 SBC-103
22 Cellular Pharmacodynamics of Small Molecules in Sanfilippo Disease(s) (MPS3) and Other Lysosomal Storage Disorders Unknown status NCT03812055
23 An Observational, Prospective, Multi-center, Natural History Study of Patients With Mucopolysaccharidosis Type IIIA (MPS IIIA) Unknown status NCT02746341
24 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
25 An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
26 A Longitudinal, Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01047306
27 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
28 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
29 A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Completed NCT02493998
30 Behavioral Challenges in Children With Mucopolysaccharidosis Type I-III and Parental Coping Strategies Completed NCT03161171
31 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
32 Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging Completed NCT02090179
33 A Long-term Follow-up Study of Patients With MPS IIIB From Gene Therapy Clinical Trials Involving the Administration of ABO-101 (rAAV9.CMV.hNAGLU) Recruiting NCT04655911
34 A Long-term Follow-up Study of Patients With MPS IIIA From Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.hSGSH) Recruiting NCT04360265
35 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT03227042
36 Biomarker for Sanfilippo Disease Type A-B-C-D AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298686
37 A Prospective Cross-Sectional and Longitudinal Study With Additional Retrospective Chart Review to Evaluate Clinical and Biochemical Characteristics and Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Terminated NCT02293408

Search NIH Clinical Center for Mucopolysaccharidosis 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.

Genetic Tests for Mucopolysaccharidosis Iii

Genetic tests related to Mucopolysaccharidosis Iii:

# Genetic test Affiliating Genes
1 Sanfilippo Syndrome 29

Anatomical Context for Mucopolysaccharidosis Iii

MalaCards organs/tissues related to Mucopolysaccharidosis Iii:

40
Eye, Spinal Cord, Brain, Bone, Bone Marrow, Skin, Cortex

Publications for Mucopolysaccharidosis Iii

Articles related to Mucopolysaccharidosis Iii:

(show top 50) (show all 401)
# Title Authors PMID Year
1
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 61 6 25
21061399 2010
2
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. 6 25 61
20232353 2010
3
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 61 6 54
19823584 2009
4
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 6 54 61
19479962 2009
5
A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D. 61 6 54
19650410 2009
6
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). 25 6
18407553 2008
7
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 6 25
18024218 2008
8
Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene. 61 54 6
17998446 2007
9
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. 6 54 61
12573255 2003
10
Natural History of Sanfilippo Syndrome Type C in Boyacá, Colombia. 61 6
27733599 2017
11
Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. 61 6
26331342 2016
12
Sanfilippo syndrome: causes, consequences, and treatments. 6 61
26648750 2015
13
A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome). 6 61
25807448 2015
14
Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. 6 61
25491247 2014
15
Tachypnea of infancy as the first sign of Sanfilippo syndrome. 61 6
25113300 2014
16
Treatment effect of coenzyme Q(10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. 6 61
24347096 2014
17
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. 6 61
24576347 2014
18
Natural history of Sanfilippo syndrome in Spain. 6 61
24314109 2013
19
The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. 61 6
23301227 2013
20
Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. 61 6
21910976 2011
21
Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. 6 61
20825431 2011
22
Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. 61 6
21671382 2011
23
Combined Hurler and Sanfilippo syndrome in a sibling pair. 61 6
21393040 2011
24
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. 61 6
21204211 2011
25
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). 54 61 25
20138557 2010
26
[Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)]. 6 61
19099774 2008
27
Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online. 61 6
17397050 2007
28
Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID). 6 61
16990043 2007
29
An adult Sanfilippo type A patient with homozygous mutation R206P in the sulfamidase gene. 6 61
15637719 2005
30
Expression and functional characterization of human mutant sulfamidase in insect cells. 6 61
15542396 2004
31
Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A. 6 54
15146460 2004
32
Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. 61 6
12624138 2003
33
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA). 61 6
12000360 2002
34
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation. 6 61
11343308 2001
35
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. 61 6
11182930 2000
36
Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects. 6 61
10727844 2000
37
Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. 6 61
9700599 1998
38
Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. 61 6
9554748 1998
39
Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients. 6 61
9744479 1998
40
Genotype-phenotype correspondence in Sanfilippo syndrome type B. 61 54 25
9443875 1998
41
Novel mutations in Sanfilippo A syndrome: implications for enzyme function. 61 6
9285796 1997
42
Molecular defects in Sanfilippo syndrome type A. 6 61
9158154 1997
43
Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. 61 6
7493035 1995
44
Sanfilippo syndrome type D. 6 61
3100754 1987
45
Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. 61 6
6450420 1980
46
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. 6
32214227 2020
47
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease. 6
31228227 2019
48
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. 6
30593151 2018
49
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. 61 25
29661560 2018
50
Epidemiology of Sanfilippo syndrome: results of a systematic literature review. 61 25
29631636 2018

Variations for Mucopolysaccharidosis Iii

ClinVar genetic disease variations for Mucopolysaccharidosis Iii:

6 (show top 50) (show all 819)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GNS NM_002076.4(GNS):c.1063C>T (p.Arg355Ter) SNV Pathogenic 2932 rs119461974 GRCh37: 12:65130819-65130819
GRCh38: 12:64737039-64737039
2 GNS NM_002076.4(GNS):c.1169del (p.Gln390fs) Deletion Pathogenic 2933 rs483352898 GRCh37: 12:65122767-65122767
GRCh38: 12:64728987-64728987
3 GNS NM_002076.4(GNS):c.1168C>T (p.Gln390Ter) SNV Pathogenic 2934 rs119461975 GRCh37: 12:65122768-65122768
GRCh38: 12:64728988-64728988
4 GNS NC_000012.12:g.(?_64739371)_(64747928_?)del Deletion Pathogenic 831424 GRCh37: 12:65133151-65141708
GRCh38:
5 GNS NM_002076.4(GNS):c.814C>T (p.Gln272Ter) SNV Pathogenic 638094 rs1365770233 GRCh37: 12:65134447-65134447
GRCh38: 12:64740667-64740667
6 GNS NM_002076.4(GNS):c.1138_1139insGTCCT (p.Asp380fs) Insertion Pathogenic 2935 rs483352899 GRCh37: 12:65122797-65122798
GRCh38: 12:64729017-64729018
7 GNS NM_002076.4(GNS):c.1226dup (p.Ser410fs) Duplication Pathogenic 2936 rs483352900 GRCh37: 12:65116867-65116868
GRCh38: 12:64723087-64723088
8 GNS NM_002076.4(GNS):c.1199del (p.Ile399_Leu400insTer) Deletion Pathogenic 960791 GRCh37: 12:65122737-65122737
GRCh38: 12:64728957-64728957
9 HGSNAT NM_152419.3(HGSNAT):c.1271dup (p.Ile425fs) Duplication Pathogenic 918132 GRCh37: 8:43047462-43047463
GRCh38: 8:43192319-43192320
10 HGSNAT NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter) SNV Pathogenic 1233 rs121908283 GRCh37: 8:43033327-43033327
GRCh38: 8:43178184-43178184
11 HGSNAT NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) SNV Pathogenic 1234 rs121908284 GRCh37: 8:43048967-43048967
GRCh38: 8:43193824-43193824
12 HGSNAT NM_152419.3(HGSNAT):c.525dup (p.Val176fs) Duplication Pathogenic 1235 rs483352895 GRCh37: 8:43016611-43016612
GRCh38: 8:43161468-43161469
13 HGSNAT NM_152419.3(HGSNAT):c.372-2A>G SNV Pathogenic 1236 rs483352896 GRCh37: 8:43014064-43014064
GRCh38: 8:43158921-43158921
14 HGSNAT NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) SNV Pathogenic 1238 rs121908286 GRCh37: 8:43052825-43052825
GRCh38: 8:43197682-43197682
15 SGSH NM_000199.5(SGSH):c.383C>T (p.Pro128Leu) SNV Pathogenic 5110 rs104894642 GRCh37: 17:78188537-78188537
GRCh38: 17:80214738-80214738
16 SGSH SGSH, 1-BP DEL, 1091C Deletion Pathogenic 5112 GRCh37:
GRCh38:
17 HGSNAT NM_152419.3(HGSNAT):c.234+1G>A SNV Pathogenic 30832 rs483352908 GRCh37: 8:43002207-43002207
GRCh38: 8:43147064-43147064
18 GNPTAB NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln) SNV Pathogenic 2774 rs34159654 GRCh37: 12:102224444-102224444
GRCh38: 12:101830666-101830666
19 GNPTAB NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs) Deletion Pathogenic 38417 rs34901902 GRCh37: 12:102158638-102158642
GRCh38: 12:101764860-101764864
20 GNPTAB NM_024312.5(GNPTAB):c.3335+6T>G SNV Pathogenic 2773 rs34788341 GRCh37: 12:102151344-102151344
GRCh38: 12:101757566-101757566
21 GNPTAB NM_024312.5(GNPTAB):c.3435-1G>A SNV Pathogenic 38427 rs281865037 GRCh37: 12:102147318-102147318
GRCh38: 12:101753540-101753540
22 GNPTAB NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) SNV Pathogenic 38431 rs34946266 GRCh37: 12:102179792-102179792
GRCh38: 12:101786014-101786014
23 GNPTAB NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter) SNV Pathogenic 38433 rs35878526 GRCh37: 12:102164875-102164875
GRCh38: 12:101771097-101771097
24 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) SNV Pathogenic 252961 rs370717845 GRCh37: 8:43016605-43016605
GRCh38: 8:43161462-43161462
25 SGSH NM_000199.5(SGSH):c.1135del (p.Val379fs) Deletion Pathogenic 280988 rs777956287 GRCh37: 17:78184625-78184625
GRCh38: 17:80210826-80210826
26 SGSH NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) Deletion Pathogenic 287037 rs752914124 GRCh37: 17:78184478-78184488
GRCh38: 17:80210679-80210689
27 SGSH SGSH, 9-BP DEL, NT1307 Deletion Pathogenic 5115 GRCh37:
GRCh38:
28 SGSH SGSH, 11-BP DEL, NT1284 Deletion Pathogenic 5116 GRCh37:
GRCh38:
29 HGSNAT NM_152419.3(HGSNAT):c.372-2A>G SNV Pathogenic 1236 rs483352896 GRCh37: 8:43014064-43014064
GRCh38: 8:43158921-43158921
30 HGSNAT NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) SNV Pathogenic 265483 rs753355844 GRCh37: 8:43048933-43048933
GRCh38: 8:43193790-43193790
31 SGSH NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) SNV Pathogenic 383967 rs1057521801 GRCh37: 17:78187675-78187675
GRCh38: 17:80213876-80213876
32 SGSH NM_000199.5(SGSH):c.763del (p.Gln255fs) Deletion Pathogenic 437445 rs1555620827 GRCh37: 17:78186056-78186056
GRCh38: 17:80212257-80212257
33 SGSH NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) SNV Pathogenic 523016 rs1555621662 GRCh37: 17:78188056-78188056
GRCh38: 17:80214257-80214257
34 HGSNAT NM_152419.3(HGSNAT):c.234+1G>A SNV Pathogenic 30832 rs483352908 GRCh37: 8:43002207-43002207
GRCh38: 8:43147064-43147064
35 HGSNAT NM_152419.3(HGSNAT):c.887C>A (p.Ser296Ter) SNV Pathogenic 542424 rs372933126 GRCh37: 8:43033252-43033252
GRCh38: 8:43178109-43178109
36 HGSNAT NM_152419.3(HGSNAT):c.739del (p.Arg247fs) Deletion Pathogenic 426971 rs1085307880 GRCh37: 8:43025833-43025833
GRCh38: 8:43170690-43170690
37 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV Pathogenic 279891 rs144143780 GRCh37: 17:78184621-78184621
GRCh38: 17:80210822-80210822
38 HGSNAT NM_152419.3(HGSNAT):c.1516C>T (p.Arg506Ter) SNV Pathogenic 552134 rs747240928 GRCh37: 8:43052142-43052142
GRCh38: 8:43196999-43196999
39 SGSH NM_000199.5(SGSH):c.376dup (p.Val126fs) Duplication Pathogenic 552173 rs1555621971 GRCh37: 17:78188543-78188544
GRCh38: 17:80214744-80214745
40 HGSNAT NM_152419.3(HGSNAT):c.852-1G>A SNV Pathogenic 556501 rs1447092074 GRCh37: 8:43033216-43033216
GRCh38: 8:43178073-43178073
41 SGSH NM_000199.5(SGSH):c.582T>A (p.Cys194Ter) SNV Pathogenic 557068 rs1555621659 GRCh37: 17:78188052-78188052
GRCh38: 17:80214253-80214253
42 HGSNAT NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu) SNV Pathogenic 569073 rs756310864 GRCh37: 8:43052991-43052991
GRCh38: 8:43197848-43197848
43 HGSNAT NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) SNV Pathogenic 569138 rs1563366896 GRCh37: 8:43024359-43024359
GRCh38: 8:43169216-43169216
44 HGSNAT NM_152419.3(HGSNAT):c.739del (p.Arg247fs) Deletion Pathogenic 426971 rs1085307880 GRCh37: 8:43025833-43025833
GRCh38: 8:43170690-43170690
45 HGSNAT NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) SNV Pathogenic 265483 rs753355844 GRCh37: 8:43048933-43048933
GRCh38: 8:43193790-43193790
46 HGSNAT NM_152419.3(HGSNAT):c.607C>T (p.Arg203Ter) SNV Pathogenic 569138 rs1563366896 GRCh37: 8:43024359-43024359
GRCh38: 8:43169216-43169216
47 SGSH NM_000199.5(SGSH):c.89-2A>G SNV Pathogenic 634541 rs1369704445 GRCh37: 17:78190993-78190993
GRCh38: 17:80217194-80217194
48 HGSNAT NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) SNV Pathogenic 638471 rs752939204 GRCh37: 8:43037323-43037323
GRCh38: 8:43182180-43182180
49 SGSH NM_000199.5(SGSH):c.402dup (p.Asp135Ter) Duplication Pathogenic 646114 rs1598749984 GRCh37: 17:78188517-78188518
GRCh38: 17:80214718-80214719
50 HGSNAT NM_152419.3(HGSNAT):c.164T>A (p.Leu55Ter) SNV Pathogenic 651853 rs1586698317 GRCh37: 8:43002136-43002136
GRCh38: 8:43146993-43146993

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
13.75 SUMF1 SGSH NAGLU IDUA IDS HSD17B13
2
Show member pathways
12.55 SGSH NAGLU IDUA IDS GUSB GNS
3
Show member pathways
12.14 SGSH NAGLU IDUA IDS GUSB ARSB
4 11.76 M6PR LAMP2 LAMP1
5 11.61 SUMF1 SGSH NAGLU M6PR LAMP2 LAMP1
6
Show member pathways
11.58 SUMF1 ARSH ARSB
7
Show member pathways
10.91 SGSH NAGLU IDUA IDS HGSNAT GUSB

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 extracellular exosome GO:0070062 10.07 SLC26A11 SGSH NAGLU LAMP2 LAMP1 IDUA
2 late endosome GO:0005770 9.71 M6PR LAMP2 LAMP1 CLN3
3 lysosomal membrane GO:0005765 9.7 TFEB SLC26A11 M6PR LAMP2 LAMP1 HGSNAT
4 late endosome membrane GO:0031902 9.63 LAMP2 LAMP1 CLN3
5 azurophil granule lumen GO:0035578 9.62 GUSB GNS GALNS ARSB
6 ficolin-1-rich granule lumen GO:1904813 9.61 GUSB GNS ARSB
7 lysosomal lumen GO:0043202 9.61 SGSH NAGLU LAMP2 IDUA IDS GUSB
8 lysosome GO:0005764 9.5 TFEB SLC26A11 SGSH NAGLU M6PR LAMP2
9 vacuole GO:0005773 9.48 LAMP1 CLN3
10 autolysosome GO:0044754 9.43 LAMP2 LAMP1 CLN3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.7 LAMP2 LAMP1 HGSNAT GUSB GNS GALNS
2 lysosomal transport GO:0007041 9.5 M6PR HGSNAT ARSB
3 glycosaminoglycan metabolic process GO:0030203 9.49 SGSH GNS
4 keratan sulfate catabolic process GO:0042340 9.48 GNS GALNS
5 Golgi to lysosome transport GO:0090160 9.46 LAMP1 CLN3
6 establishment of protein localization to organelle GO:0072594 9.43 LAMP2 LAMP1
7 chondroitin sulfate catabolic process GO:0030207 9.43 IDUA IDS ARSB
8 lysosomal protein catabolic process GO:1905146 9.4 LAMP2 CLN3
9 secretion of lysosomal enzymes GO:0033299 9.37 M6PR GNPTAB
10 lysosome organization GO:0007040 9.35 TFEB NAGLU GNPTAB CLN3 ARSB
11 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS HGSNAT GUSB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 SGSH NAGLU IDUA IDS GUSB GNS
2 catalytic activity GO:0003824 9.8 SGSH IDS GNS GALNS ARSH ARSB
3 protein domain specific binding GO:0019904 9.73 M6PR LAMP2 LAMP1 GUSB
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.58 NAGLU IDUA GUSB
5 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.37 SGSH GNS
6 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 GALNS ARSB
7 arylsulfatase activity GO:0004065 9.13 GALNS ARSH ARSB
8 sulfuric ester hydrolase activity GO:0008484 9.1 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis Iii

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