MPS3B
MCID: MCP044
MIFTS: 59

Mucopolysaccharidosis, Type Iiib (MPS3B)

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, Type Iiib

MalaCards integrated aliases for Mucopolysaccharidosis, Type Iiib:

Name: Mucopolysaccharidosis, Type Iiib 57 39
Mucopolysaccharidosis Type Iiib 57 12 20 58 73 29 13 15
Naglu Deficiency 57 12 73 6
Mps3b 57 12 58 73
N-Acetyl-Alpha-D-Glucosaminidase Deficiency 57 20 73
Sanfilippo Syndrome B 57 20 73
Mps Iiib 57 20 73
N-Acetyl-Alpha-Glucosaminidase Deficiency 12 58
Mucopoly-Saccharidosis Type 3b 12 20
Mucopolysaccharidosis Type 3b 12 58
Sanfilippo Syndrome Type B 12 58
Mps Iii B 54 71
Mpsiiib 12 58
Mucopolysaccharidosis 3b 73
Mps Iii-B 74
Mps 3b 20

Characteristics:

Orphanet epidemiological data:

58
sanfilippo syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
death occurs in second or third decade
some patients have an attenuated phenotype
four clinically indistinguishable biochemically distinct forms (see, e.g., type iiia, )


HPO:

31
mucopolysaccharidosis, type iiib:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111394
OMIM® 57 252920
OMIM Phenotypic Series 57 PS607014
MeSH 44 D009084
NCIt 50 C84898
SNOMED-CT 67 254071004
ICD10 32 E76.22
ICD10 via Orphanet 33 E76.2
UMLS via Orphanet 72 C0086648
Orphanet 58 ORPHA79270
MedGen 41 C0086648
UMLS 71 C0086648

Summaries for Mucopolysaccharidosis, Type Iiib

GARD : 20 Mucopolysaccharidosis type IIIB (MPS IIIB) is an 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 IIIB is caused by alterations (mutations) in the NAGLU gene. This gene provides the instructions for producing an enzyme called N-alpha-acetylglucosaminidase, which is needed to completely break down heparan sulfate. MPS IIIB is inherited in an autosomal recessive manner. There is no specific treatment for this condition. Most people with MPS IIIB live into their teenage years, and some live longer.

MalaCards based summary : Mucopolysaccharidosis, Type Iiib, also known as mucopolysaccharidosis type iiib, is related to mucopolysaccharidoses and hurler syndrome, and has symptoms including seizures, joint stiffness and diarrhea. An important gene associated with Mucopolysaccharidosis, Type Iiib is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. The drugs Insulin, Globin Zinc and Mitogens have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are intellectual disability and sleep disturbance

Disease Ontology : 12 A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has material basis in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2.

OMIM® : 57 Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005). For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (252900). (252920) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : 73 Mucopolysaccharidosis 3B: A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.

Wikipedia : 74 Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiib

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, Type Iiib via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 86)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidoses 29.7 SGSH NAGLU IDUA HGSNAT GUSB ARSB
2 hurler syndrome 29.6 SUMF1 NAGLU IDUA IDS GALNS ARSB
3 lysosomal storage disease 27.9 TPP1 SUMF1 SGSH NAGLU M6PR IDUA
4 mucopolysaccharidosis iii 27.7 TPP1 TFEB SUMF1 SGSH NAGLU M6PR
5 mucopolysaccharidosis-plus syndrome 27.2 TPP1 TFEB SUMF1 SGSH NAGPA NAGLU
6 autosomal recessive disease 10.3
7 ataxia and polyneuropathy, adult-onset 10.3
8 cerebellar disease 10.3
9 tremor 10.3
10 mongolian spot 10.2 NAGLU IDUA
11 kluver-bucy syndrome 10.2 SGSH NAGLU HGSNAT
12 alzheimer disease 10.2
13 alacrima, achalasia, and mental retardation syndrome 10.2
14 learning disability 10.2
15 morquio syndrome 10.1 GUSB GALNS
16 umbilical hernia 10.1 IGF2 IDUA ARSB
17 wilson disease 10.1
18 hydrocephalus 10.1
19 glycogen storage disease 10.1
20 nerve compression syndrome 10.1 IDUA IDS ARSB
21 otitis media 10.0
22 corpus callosum, agenesis of 10.0
23 epilepsy, focal, with speech disorder and with or without mental retardation 10.0
24 spastic paraplegia 54, autosomal recessive 10.0
25 auditory agnosia 10.0
26 dysostosis 10.0
27 landau-kleffner syndrome 10.0
28 agnosia 10.0
29 myopathy 10.0
30 urinary tract obstruction 10.0
31 inherited metabolic disorder 10.0
32 retinal degeneration 10.0
33 spasticity 10.0
34 lysosomal disease 10.0
35 lysosomal storage disease with skeletal involvement 10.0
36 overgrowth syndrome 10.0
37 fucosidosis 10.0 NAGLU IDUA GALNS ARSB
38 gm1 gangliosidosis 10.0 SGSH IDUA GALNS ARSB
39 retinal microaneurysm 10.0
40 proteasome-associated autoinflammatory syndrome 1 10.0
41 central nervous system disease 10.0
42 nervous system disease 10.0
43 galactosialidosis 10.0 M6PR IDUA GALNS
44 phosphatase, acid, of tissues 10.0 LAMP2 LAMP1
45 salla disease 10.0 LAMP2 LAMP1
46 c syndrome 9.9 TFEB LAMP1 HGSNAT
47 multiple sulfatase deficiency 9.9 SUMF1 GNS GALNS ARSB
48 osteochondrosis 9.9 IGF2 GALNS
49 mannosidosis, alpha b, lysosomal 9.9 SGSH IDUA GUSB CLN6
50 hurler-scheie syndrome 9.9 SUMF1 SGSH NAGLU IDUA ARSB

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Iiib:



Diseases related to Mucopolysaccharidosis, Type Iiib

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiib

Human phenotypes related to Mucopolysaccharidosis, Type Iiib:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 sleep disturbance 31 HP:0002360
3 coarse facial features 31 HP:0000280
4 hearing impairment 31 HP:0000365
5 splenomegaly 31 HP:0001744
6 hepatomegaly 31 HP:0002240
7 joint stiffness 31 HP:0001387
8 coarse hair 31 HP:0002208
9 dysostosis multiplex 31 HP:0000943
10 cardiomegaly 31 HP:0001640
11 recurrent upper respiratory tract infections 31 HP:0002788
12 synophrys 31 HP:0000664
13 diarrhea 31 HP:0002014
14 aggressive behavior 31 HP:0000718
15 heparan sulfate excretion in urine 31 HP:0002159
16 hirsutism 31 HP:0001007
17 hyperactivity 31 HP:0000752
18 progressive neurologic deterioration 31 HP:0002344
19 ovoid thoracolumbar vertebrae 31 HP:0003309
20 dense calvaria 31 HP:0000250
21 thickened ribs 31 HP:0000900
22 seizure 31 HP:0001250
23 asymmetric septal hypertrophy 31 HP:0001670

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
sleep disturbances
mental retardation
neurologic deterioration, progressive
slowing mental development by 1.5 to 3 years of age

Cardiovascular Heart:
cardiomegaly
asymmetric septal hypertrophy

Abdomen Gastrointestinal:
diarrhea

Laboratory Abnormalities:
heparan sulfate excretion in urine
n-acetyl-alpha-d-glucosaminidase deficiency in fibroblasts

Skeletal Skull:
dense calvaria

Head And Neck Ears:
hearing loss

Head And Neck Face:
coarse facies, mild

Abdomen Spleen:
splenomegaly, mild

Skeletal Limbs:
joint stiffness, mild

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

Head And Neck Eyes:
synophrys
clear corneas

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
behavioral problems, severe, at age 3-4 years

Skeletal Spine:
ovoid thoracolumbar vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

Respiratory Nasopharynx:
frequent upper respiratory infections

Abdomen Liver:
hepatomegaly, mild

Skeletal:
dysostosis multiplex, mild

Clinical features from OMIM®:

252920 (Updated 05-Mar-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Iiib:


seizures, joint stiffness, diarrhea, sleep disturbances

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Iiib:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.46 ARSB CBLN1 CLN6 GNS GUSB HGSNAT
2 cellular MP:0005384 10.44 ARSB GALNS GNS GUSB HGSNAT IDS
3 growth/size/body region MP:0005378 10.32 ARSB CLN6 GUSB HGSNAT IDS IDUA
4 cardiovascular system MP:0005385 10.29 ARSB CLN6 HGSNAT IDUA IGF2 LAMP2
5 hematopoietic system MP:0005397 10.29 ARSB CLN6 GNS GUSB HGSNAT IDS
6 homeostasis/metabolism MP:0005376 10.27 ARSB CLN6 GALNS GUSB HGSNAT IDS
7 craniofacial MP:0005382 10.22 ARSB GUSB IDS IDUA IGF2 LAMP1
8 mortality/aging MP:0010768 10.2 CLN6 GNS GUSB HGSNAT IDS IDUA
9 adipose tissue MP:0005375 10.17 ARSB CLN6 GUSB HGSNAT IDUA LAMP2
10 integument MP:0010771 10.13 GUSB IDS IDUA IGF2 LAMP1 LAMP2
11 nervous system MP:0003631 10.1 ARSB CBLN1 CLN6 GNS HGSNAT IDS
12 limbs/digits/tail MP:0005371 10.01 ARSB GUSB HGSNAT IDS IDUA IGF2
13 hearing/vestibular/ear MP:0005377 9.97 ARSB GUSB IDS IDUA NAGLU TFEB
14 liver/biliary system MP:0005370 9.97 HGSNAT IDS IDUA IGF2 LAMP2 NAGLU
15 renal/urinary system MP:0005367 9.85 ARSB GALNS GUSB HGSNAT IDS IDUA
16 skeleton MP:0005390 9.8 ARSB GALNS GUSB HGSNAT IDS IDUA
17 vision/eye MP:0005391 9.32 ARSB CLN6 GALNS IDS IDUA IGF2

Drugs & Therapeutics for Mucopolysaccharidosis, Type Iiib

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Insulin, Globin Zinc Phase 2
2 Mitogens Phase 2
3 insulin Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
5 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
6 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
7 An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
8 A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Completed NCT02493998
9 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
10 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
11 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT03227042
12 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) Not yet recruiting NCT04655911
13 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, Type Iiib

Genetic Tests for Mucopolysaccharidosis, Type Iiib

Genetic tests related to Mucopolysaccharidosis, Type Iiib:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Iiib (sanfilippo B) 29

Anatomical Context for Mucopolysaccharidosis, Type Iiib

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiib:

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

Publications for Mucopolysaccharidosis, Type Iiib

Articles related to Mucopolysaccharidosis, Type Iiib:

(show top 50) (show all 87)
# Title Authors PMID Year
1
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 6 57 61
18218046 2008
2
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 6 57 61
15933803 2005
3
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. 6 57 61
11068184 2000
4
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6 57
21937992 2011
5
Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. 6 57
12202988 2002
6
The molecular basis of Sanfilippo syndrome type B. 57 6
8650226 1996
7
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). 61 6
9832037 1998
8
Incidence of the mucopolysaccharidoses in Western Australia. 57
14608657 2003
9
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. 57
14518829 2003
10
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. 57
11153910 2000
11
Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation. 57
11140844 2000
12
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 6
10094189 1999
13
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele. 57
1606713 1992
14
Bone marrow transplantation for Sanfilippo disease type B. 57
1293388 1992
15
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B. 57
3125534 1988
16
Follow-up on seven adult patients with mild Sanfilippo B-disease. 57
3118713 1987
17
Sanfilippo disease in Greece. 57
3082543 1986
18
Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family. 57
3976723 1985
19
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. 57
6231143 1984
20
Prenatal diagnosis of Sanfilippo disease type B. 57
6427096 1984
21
Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts. 57
6421152 1984
22
Carrier detection in Sanfilippo syndrome type B: report of six families. 57
6796309 1981
23
Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism. 57
6781343 1980
24
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. 57
157237 1979
25
Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts. 57
4271574 1974
26
Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families. 57
4269738 1973
27
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. 57
4261742 1972
28
Genotype to Phenotype: Identification of Mucopolysaccharidosis Type IIIB (Sanfilippo's B) Case Using Whole Exome Sequencing. 61
33552644 2021
29
Induced pluripotent stem cell line (SDQLCHi041-A) from a male patient with mucopolysaccharidosis type IIIB. 61
33550137 2021
30
Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family. 61
33246910 2020
31
Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions. 61
33230178 2020
32
Site-specific modifications to AAV8 capsid yields enhanced brain transduction in the neonatal MPS IIIB mouse. 61
33244179 2020
33
Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene. 61
32578945 2020
34
Murine cellular model of mucopolysaccharidosis, type IIIB (MPS IIIB) - A preliminary study with particular emphasis on the non-oxidative l-cysteine metabolism. 61
32335228 2020
35
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient 61
31952437 2020
36
An Uncommon Presentation of Mucopolysaccharidosis Type IIIb. 61
31327975 2019
37
BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis. 61
30657762 2019
38
A model of mucopolysaccharidosis type IIIB in pigs. 61
30257828 2018
39
Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice. 61
30101150 2018
40
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. 61
29661560 2018
41
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. 61
28911234 2018
42
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB. 61
28836185 2018
43
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence. 61
29979746 2018
44
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature. 61
28751108 2017
45
Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome. 61
28713036 2017
46
Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. 61
28713035 2017
47
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB. 61
28018442 2016
48
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 61
26907177 2016
49
Insulin Receptor Antibody-α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood-Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts. 61
26910785 2016
50
The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study. 61
26918231 2016

Variations for Mucopolysaccharidosis, Type Iiib

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiib:

6 (show top 50) (show all 280)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAGLU NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) SNV Pathogenic 1569 rs118204024 17:40688432-40688432 17:42536414-42536414
2 NAGLU NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) SNV Pathogenic 1570 rs118204025 17:40693145-40693145 17:42541127-42541127
3 NAGLU NM_000263.4(NAGLU):c.480del (p.Asn160fs) Deletion Pathogenic 266015 rs886039894 17:40689512-40689512 17:42537494-42537494
4 NAGLU NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) SNV Pathogenic 143187 rs527236038 17:40695970-40695970 17:42543952-42543952
5 NAGLU NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) Deletion Pathogenic 862122 17:40695312-40695313 17:42543294-42543295
6 NAGLU NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) SNV Pathogenic 557013 rs104894598 17:40695718-40695718 17:42543700-42543700
7 NAGLU NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) SNV Pathogenic 572445 rs1230894568 17:40695997-40695997 17:42543979-42543979
8 NAGLU NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) SNV Pathogenic 143188 rs527236037 17:40695973-40695973 17:42543955-42543955
9 NAGLU NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) SNV Pathogenic 841655 17:40693129-40693129 17:42541111-42541111
10 NAGLU NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp) SNV Pathogenic 803391 rs1599253815 17:40688535-40688535 17:42536517-42536517
11 NAGLU NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) SNV Pathogenic 803392 rs1599258487 17:40693114-40693114 17:42541096-42541096
12 NAGLU NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) SNV Pathogenic 30795 rs104894598 17:40695718-40695718 17:42543700-42543700
13 NAGLU NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) Deletion Pathogenic 937662 17:40693104-40693105 17:42541086-42541087
14 NAGLU NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) SNV Pathogenic 552920 rs138387856 17:40695414-40695414 17:42543396-42543396
15 NAGLU NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) SNV Pathogenic 1563 rs104894593 17:40695952-40695952 17:42543934-42543934
16 NAGLU NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) SNV Pathogenic 1571 rs104894596 17:40695468-40695468 17:42543450-42543450
17 NAGLU NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) SNV Pathogenic 557513 rs1555622242 17:40695117-40695117 17:42543099-42543099
18 NAGLU NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) SNV Pathogenic 553061 rs763299645 17:40696044-40696044 17:42544026-42544026
19 NAGLU NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) Duplication Pathogenic 266016 rs886039895 17:40695967-40695968 17:42543949-42543950
20 NAGLU NM_000263.4(NAGLU):c.212_216GCGCG[3] (p.Val75fs) Microsatellite Pathogenic 556349 rs1555621442 17:40688498-40688499 17:42536480-42536481
21 NAGLU NM_000263.4(NAGLU):c.1159_1162AGCC[3] (p.Val390fs) Microsatellite Pathogenic 850180 17:40695182-40695183 17:42543164-42543165
22 NAGLU NM_000263.4(NAGLU):c.49_73dup (p.Glu25fs) Duplication Pathogenic 936390 17:40688338-40688339 17:42536320-42536321
23 NAGLU NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) Deletion Pathogenic 1564 rs483352897 17:40689535-40689544 17:42537517-42537526
24 NAGLU NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) Deletion Pathogenic 1564 rs483352897 17:40689535-40689544 17:42537517-42537526
25 NAGLU NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) SNV Pathogenic 92695 rs398123281 17:40689535-40689535 17:42537517-42537517
26 NAGLU NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) SNV Pathogenic 288040 rs886043792 17:40690703-40690703 17:42538685-42538685
27 NAGLU NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) Duplication Pathogenic 557862 rs778021009 17:40695470-40695471 17:42543452-42543453
28 NAGLU NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) SNV Pathogenic 552642 rs1445294968 17:40688648-40688648 17:42536630-42536630
29 NAGLU NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) SNV Pathogenic 552642 rs1445294968 17:40688648-40688648 17:42536630-42536630
30 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) SNV Pathogenic 1565 rs104894594 17:40695951-40695951 17:42543933-42543933
31 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) SNV Pathogenic 1566 rs104894595 17:40695586-40695586 17:42543568-42543568
32 NAGLU NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) SNV Pathogenic 1561 rs104894591 17:40695900-40695900 17:42543882-42543882
33 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) SNV Pathogenic 1562 rs104894592 17:40693092-40693092 17:42541074-42541074
34 NAGLU NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) SNV Pathogenic 1567 rs104894597 17:40695717-40695717 17:42543699-42543699
35 NAGLU NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) SNV Pathogenic 1572 rs104894601 17:40690709-40690709 17:42538691-42538691
36 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) SNV Pathogenic 632282 rs147036053 17:40695924-40695924 17:42543906-42543906
37 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) SNV Pathogenic 1566 rs104894595 17:40695586-40695586 17:42543568-42543568
38 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) SNV Pathogenic 1565 rs104894594 17:40695951-40695951 17:42543933-42543933
39 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) SNV Pathogenic 522823 rs148881970 17:40695858-40695858 17:42543840-42543840
40 NAGLU NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) SNV Pathogenic 551331 rs904672363 17:40695235-40695235 17:42543217-42543217
41 NAGLU NM_000263.4(NAGLU):c.1277G>A (p.Gly426Asp) SNV Pathogenic 643204 rs771151036 17:40695301-40695301 17:42543283-42543283
42 NAGLU NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) SNV Pathogenic 1561 rs104894591 17:40695900-40695900 17:42543882-42543882
43 NAGLU NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) SNV Pathogenic 1560 rs104894590 17:40696045-40696045 17:42544027-42544027
44 NAGLU NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) SNV Pathogenic 552833 rs768814260 17:40695265-40695265 17:42543247-42543247
45 NAGLU NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) SNV Pathogenic 371634 rs753520553 17:40689451-40689451 17:42537433-42537433
46 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) SNV Pathogenic 1562 rs104894592 17:40693092-40693092 17:42541074-42541074
47 NAGLU NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) SNV Pathogenic 1572 rs104894601 17:40690709-40690709 17:42538691-42538691
48 NAGLU NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) SNV Pathogenic 1567 rs104894597 17:40695717-40695717 17:42543699-42543699
49 NAGLU NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) SNV Pathogenic 495784 rs1244655820 17:40695621-40695621 17:42543603-42543603
50 NAGLU NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) SNV Pathogenic 551331 rs904672363 17:40695235-40695235 17:42543217-42543217

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis, Type Iiib:

73 (show top 50) (show all 67)
# Symbol AA change Variation ID SNP ID
1 NAGLU p.Tyr92His VAR_005007 rs155562145
2 NAGLU p.Pro115Ser VAR_005008 rs758785463
3 NAGLU p.Tyr140Cys VAR_005009 rs753520553
4 NAGLU p.Glu153Lys VAR_005010
5 NAGLU p.Pro358Leu VAR_005011 rs368687817
6 NAGLU p.Arg643His VAR_005012 rs104894593
7 NAGLU p.Ala664Val VAR_005013 rs746006696
8 NAGLU p.Arg674His VAR_005014 rs104894590
9 NAGLU p.Leu682Arg VAR_005015
10 NAGLU p.Gly79Cys VAR_008979
11 NAGLU p.His100Arg VAR_008980
12 NAGLU p.Pro243Leu VAR_008982
13 NAGLU p.Cys277Phe VAR_008983
14 NAGLU p.Leu280Pro VAR_008984 rs139273261
15 NAGLU p.Gly292Arg VAR_008985 rs135899405
16 NAGLU p.Glu452Lys VAR_008986 rs118363415
17 NAGLU p.Arg482Trp VAR_008987 rs104894596
18 NAGLU p.Leu561Arg VAR_008988
19 NAGLU p.Arg565Gln VAR_008989 rs104894598
20 NAGLU p.Glu705Lys VAR_008990 rs136420399
21 NAGLU p.Phe48Leu VAR_025489 rs104894599
22 NAGLU p.Phe314Leu VAR_025490 rs104894600
23 NAGLU p.Pro521Leu VAR_025491 rs104894595
24 NAGLU p.Arg565Pro VAR_025492 rs104894598
25 NAGLU p.Arg565Trp VAR_025493 rs104894597
26 NAGLU p.Arg643Cys VAR_025494 rs104894594
27 NAGLU p.Leu35Phe VAR_054699
28 NAGLU p.Arg38Trp VAR_054700 rs146026001
29 NAGLU p.Phe48Cys VAR_054701 rs867910252
30 NAGLU p.Gly69Ser VAR_054702
31 NAGLU p.Val77Gly VAR_054703
32 NAGLU p.Gly79Ser VAR_054704 rs127648467
33 NAGLU p.Gly82Asp VAR_054705
34 NAGLU p.Arg130Cys VAR_054706
35 NAGLU p.Ile154Arg VAR_054707 rs770684838
36 NAGLU p.Trp156Cys VAR_054708
37 NAGLU p.His227Pro VAR_054709 rs747155746
38 NAGLU p.Arg234Cys VAR_054710 rs104894601
39 NAGLU p.Val241Met VAR_054711
40 NAGLU p.Leu242Pro VAR_054712
41 NAGLU p.Ala246Pro VAR_054713
42 NAGLU p.His248Arg VAR_054714 rs146585529
43 NAGLU p.Trp268Arg VAR_054715
44 NAGLU p.Tyr309Cys VAR_054716 rs130529966
45 NAGLU p.Val334Phe VAR_054717 rs749140168
46 NAGLU p.Tyr335Cys VAR_054718 rs768918822
47 NAGLU p.Phe410Ser VAR_054719 rs574688121
48 NAGLU p.Gly412Glu VAR_054720
49 NAGLU p.His414Arg VAR_054721 rs768814260
50 NAGLU p.Thr437Ile VAR_054722

Expression for Mucopolysaccharidosis, Type Iiib

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Iiib.

Pathways for Mucopolysaccharidosis, Type Iiib

Pathways related to Mucopolysaccharidosis, Type Iiib according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 SGSH NAGLU IDUA IDS GUSB GNS
2
Show member pathways
12.14 SGSH NAGLU IDUA IDS GUSB ARSB
3 11.68 M6PR LAMP2 LAMP1
4 11.61 TPP1 SUMF1 SGSH NAGPA NAGLU M6PR
5
Show member pathways
10.91 SGSH NAGLU IDUA IDS HGSNAT GUSB

GO Terms for Mucopolysaccharidosis, Type Iiib

Cellular components related to Mucopolysaccharidosis, Type Iiib according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 TPP1 SGSH NAGLU LAMP2 LAMP1 IDUA
2 lysosomal membrane GO:0005765 9.72 TFEB M6PR LAMP2 LAMP1 HGSNAT
3 lysosomal lumen GO:0043202 9.65 TPP1 SGSH NAGLU LAMP2 IDUA IDS
4 late endosome GO:0005770 9.61 M6PR LAMP2 LAMP1
5 ficolin-1-rich granule lumen GO:1904813 9.58 GUSB GNS ARSB
6 lysosome GO:0005764 9.47 TPP1 TFEB SGSH NAGLU M6PR LAMP2
7 azurophil granule lumen GO:0035578 9.46 GUSB GNS GALNS ARSB
8 autolysosome GO:0044754 9.37 LAMP2 LAMP1

Biological processes related to Mucopolysaccharidosis, Type Iiib according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.78 NAGPA IGF2 IDUA GUSB
2 neutrophil degranulation GO:0043312 9.7 LAMP2 LAMP1 HGSNAT GUSB GNS GALNS
3 lysosomal transport GO:0007041 9.54 M6PR HGSNAT ARSB
4 embryonic placenta development GO:0001892 9.52 TFEB IGF2
5 protein targeting to lysosome GO:0006622 9.51 NAGPA M6PR
6 chondroitin sulfate catabolic process GO:0030207 9.5 IDUA IDS ARSB
7 keratan sulfate catabolic process GO:0042340 9.49 GNS GALNS
8 establishment of protein localization to organelle GO:0072594 9.46 LAMP2 LAMP1
9 lysosomal protein catabolic process GO:1905146 9.43 TPP1 LAMP2
10 glycosaminoglycan metabolic process GO:0030203 9.43 SGSH GNS CLN6
11 lysosome organization GO:0007040 9.43 TPP1 TFEB NAGPA NAGLU CLN6 ARSB
12 secretion of lysosomal enzymes GO:0033299 9.4 NAGPA M6PR
13 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS HGSNAT GUSB

Molecular functions related to Mucopolysaccharidosis, Type Iiib according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.8 SGSH IDS GNS GALNS ARSB
2 protein domain specific binding GO:0019904 9.76 M6PR LAMP2 LAMP1 GUSB
3 hydrolase activity GO:0016787 9.65 TPP1 SGSH NAGPA NAGLU IDUA IDS
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.61 NAGLU IDUA GUSB
5 glycosaminoglycan binding GO:0005539 9.49 SGSH GNS
6 arylsulfatase activity GO:0004065 9.48 GALNS ARSB
7 lysophosphatidic acid binding GO:0035727 9.37 TPP1 CLN6
8 sulfatide binding GO:0120146 9.32 TPP1 CLN6
9 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.26 SGSH GNS
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.16 GALNS ARSB
11 sulfuric ester hydrolase activity GO:0008484 9.02 SGSH IDS GNS GALNS ARSB

Sources for Mucopolysaccharidosis, Type Iiib

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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