MPS3B
MCID: MCP044
MIFTS: 47

Mucopolysaccharidosis, Type Iiib (MPS3B)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic 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 40
Mucopolysaccharidosis Type Iiib 57 53 59 74 29 13
N-Acetyl-Alpha-D-Glucosaminidase Deficiency 57 53 74
Sanfilippo Syndrome B 57 53 74
Mps Iiib 57 53 74
Mps3b 57 59 74
Naglu Deficiency 57 74
Mps Iii B 55 72
N-Acetyl-Alpha-Glucosaminidase Deficiency 59
Mucopoly-Saccharidosis Type 3b 53
Mucopolysaccharidosis Type 3b 59
Sanfilippo Syndrome Type B 59
Mucopolysaccharidosis 3b 74
Mps Iii-B 75
Mpsiiib 59
Mps 3b 53

Characteristics:

Orphanet epidemiological data:

59
sanfilippo syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

32
mucopolysaccharidosis, type iiib:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

MeSH 44 D009084
ICD10 via Orphanet 34 E76.2
UMLS via Orphanet 73 C0086648
Orphanet 59 ORPHA79270
MedGen 42 C0086648
UMLS 72 C0086648

Summaries for Mucopolysaccharidosis, Type Iiib

NIH Rare Diseases : 53 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 mucopolysaccharidosis iii and mucopolysaccharidosis-plus 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 is Lysosome. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotypes are intellectual disability and seizures

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)

UniProtKB/Swiss-Prot : 74 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 : 75 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 Type 2, Severe Form

Diseases related to Mucopolysaccharidosis, Type Iiib via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis iii 12.3
2 mucopolysaccharidosis-plus syndrome 10.8
3 lysosomal storage disease 10.4
4 autosomal recessive disease 10.4
5 cerebellar disease 10.3
6 tremor 10.3
7 ataxia and polyneuropathy, adult-onset 10.2
8 alacrima, achalasia, and mental retardation syndrome 10.2
9 alzheimer disease 10.2
10 hydrocephalus, congenital, 1 10.1
11 epilepsy, focal, with speech disorder and with or without mental retardation 10.1
12 hurler syndrome 10.1
13 auditory agnosia 10.1
14 dysostosis 10.1
15 landau-kleffner syndrome 10.1
16 agnosia 10.1
17 myopathy 10.1
18 urinary tract obstruction 10.1
19 inherited metabolic disorder 10.1
20 retinal degeneration 10.1
21 learning disability 10.1
22 lysosomal disease 10.1
23 lysosomal storage disease with skeletal involvement 10.1
24 overgrowth syndrome 10.1
25 wilson disease 10.0
26 hydrocephalus 10.0
27 glycogen storage disease 10.0
28 arachnoid cysts 10.0
29 congenital hydrocephalus 10.0
30 mucopolysaccharidoses 10.0
31 proteasome-associated autoinflammatory syndrome 1 10.0
32 central nervous system disease 10.0
33 nervous system disease 10.0
34 retinal microaneurysm 10.0

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:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 sleep disturbance 32 HP:0002360
4 coarse facial features 32 HP:0000280
5 hearing impairment 32 HP:0000365
6 splenomegaly 32 HP:0001744
7 hepatomegaly 32 HP:0002240
8 joint stiffness 32 HP:0001387
9 coarse hair 32 HP:0002208
10 dysostosis multiplex 32 HP:0000943
11 cardiomegaly 32 HP:0001640
12 hyperactivity 32 HP:0000752
13 recurrent upper respiratory tract infections 32 HP:0002788
14 aggressive behavior 32 HP:0000718
15 diarrhea 32 HP:0002014
16 synophrys 32 HP:0000664
17 hirsutism 32 HP:0001007
18 progressive neurologic deterioration 32 HP:0002344
19 ovoid thoracolumbar vertebrae 32 HP:0003309
20 dense calvaria 32 HP:0000250
21 thickened ribs 32 HP:0000900
22 asymmetric septal hypertrophy 32 HP:0001670
23 heparan sulfate excretion in urine 32 HP:0002159

Symptoms via clinical synopsis from OMIM:

57
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

Skeletal Spine:
ovoid thoracolumbar vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

Head And Neck Ears:
hearing loss

Abdomen Spleen:
mild splenomegaly

Abdomen Liver:
mild hepatomegaly

Head And Neck Face:
coarse facies, mild

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

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

Head And Neck Eyes:
synophrys
clear corneas

Skeletal Skull:
dense calvaria

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

Respiratory Nasopharynx:
frequent upper respiratory infections

Skeletal:
mild dysostosis multiplex

Skeletal Limbs:
mild joint stiffness

Clinical features from OMIM:

252920

UMLS symptoms related to Mucopolysaccharidosis, Type Iiib:


seizures, joint stiffness, diarrhea, sleep disturbances

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 Phase 2
2 Insulin, Globin Zinc Phase 2
3 Mitogens Phase 2

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 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
2 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular BMN 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
3 Phase I/II Gene Transfer Clinical Trial of rAAV9.CMV.hNAGLU for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
4 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 Active, not recruiting NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
5 A Multicenter, Multinational, Extension Study to Evaluate the Long Term Safety and Efficacy of Intracerebroventricular BMN 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Enrolling by invitation NCT03784287 Phase 2 BMN 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 Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
9 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
10 Characterizing the Neurobehavioral Phenotype(s) in MPS III Completed NCT01873911
11 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
12 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT03227042
13 Biomarker for Sanfilippo Disease Type A-B-C-D AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02298686
14 A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998
15 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:

41
Brain, Spinal Cord, Bone, Eye, Skin, Bone Marrow

Publications for Mucopolysaccharidosis, Type Iiib

Articles related to Mucopolysaccharidosis, Type Iiib:

(show top 50) (show all 79)
# 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. 38 8 71
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. 38 8 71
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. 38 8 71
11068184 2000
4
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 8 71
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. 8 71
12202988 2002
6
The molecular basis of Sanfilippo syndrome type B. 8 71
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). 38 71
9832037 1998
8
Incidence of the mucopolysaccharidoses in Western Australia. 8
14608657 2003
9
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-D-glucosaminidase deficiency in Schipperke dogs. 8
14518829 2003
10
Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. 8
11153910 2000
11
Glycogen storage disease type Ia and Sanfilippo syndrome type B in a patient with a balanced translocation. 8
11140844 2000
12
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 71
10094189 1999
13
Concomitant occurrence of mucopolysaccharidosis IIIB and Glanzmann's thrombasthenia. Further evidence of a hyperactive alpha-N-acetylglucosaminidase-producing allele. 8
1606713 1992
14
Bone marrow transplantation for Sanfilippo disease type B. 8
1293388 1992
15
First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B. 8
3125534 1988
16
Follow-up on seven adult patients with mild Sanfilippo B-disease. 8
3118713 1987
17
Sanfilippo disease in Greece. 8
3082543 1986
18
Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family. 8
3976723 1985
19
Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients. 8
6231143 1984
20
Prenatal diagnosis of Sanfilippo disease type B. 8
6427096 1984
21
Biosynthesis and maturation of alpha-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts. 8
6421152 1984
22
Carrier detection in Sanfilippo syndrome type B: report of six families. 8
6796309 1981
23
Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism. 8
6781343 1980
24
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship. 8
157237 1979
25
Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts. 8
4271574 1974
26
Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families. 8
4269738 1973
27
Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. 8
4261742 1972
28
An Uncommon Presentation of Mucopolysaccharidosis Type IIIb. 38
31327975 2019
29
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. 38
30657762 2019
30
A model of mucopolysaccharidosis type IIIB in pigs. 38
30257828 2018
31
Genetically Corrected iPSC-Derived Neural Stem Cell Grafts Deliver Enzyme Replacement to Affect CNS Disease in Sanfilippo B Mice. 38
30101150 2018
32
Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B. 38
29661560 2018
33
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. 38
28911234 2018
34
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence. 38
29979746 2018
35
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB. 38
28836185 2018
36
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature. 38
28751108 2017
37
Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. 38
28713035 2017
38
Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome. 38
28713036 2017
39
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB. 38
28018442 2016
40
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. 38
26907177 2016
41
Insulin Receptor Antibody-α-N-Acetylglucosaminidase Fusion Protein Penetrates the Primate Blood-Brain Barrier and Reduces Glycosoaminoglycans in Sanfilippo Type B Fibroblasts. 38
26910785 2016
42
The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study. 38
26918231 2016
43
Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB. 38
26607664 2015
44
Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy. 38
25524704 2015
45
Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae). 38
24723233 2015
46
Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. 38
25267636 2014
47
Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. 38
24266751 2014
48
Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo Syndrome type B mice. 38
23535899 2013
49
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. 38
23661660 2013
50
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis. 38
23380547 2013

Variations for Mucopolysaccharidosis, Type Iiib

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiib:

6 (show top 50) (show all 132)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NAGLU NM_000263.4(NAGLU): c.212_216GCGCG[3] (p.Val75fs) short repeat Pathogenic rs1555621442 17:40688498-40688498 17:42536489-42536493
2 NAGLU NM_000263.4(NAGLU): c.358G> T (p.Glu120Ter) single nucleotide variant Pathogenic rs1445294968 17:40688648-40688648 17:42536630-42536630
3 NAGLU NM_000263.4(NAGLU): c.1211G> A (p.Trp404Ter) single nucleotide variant Pathogenic rs904672363 17:40695235-40695235 17:42543217-42543217
4 NAGLU NM_000263.4(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 17:40695900-40695900 17:42543882-42543882
5 NAGLU NM_000263.4(NAGLU): c.507_516del (p.Ser169fs) deletion Pathogenic rs483352897 17:40689535-40689544 17:42537517-42537526
6 NAGLU NM_000263.4(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 17:40695951-40695951 17:42543933-42543933
7 NAGLU NM_000263.4(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 17:40695717-40695717 17:42543699-42543699
8 NAGLU NM_000263.4(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 17:40690709-40690709 17:42538691-42538691
9 NAGLU NM_000263.4(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 17:40688432-40688432 17:42536414-42536414
10 NAGLU NM_000263.4(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 17:40693145-40693145 17:42541127-42541127
11 NAGLU NM_000263.4(NAGLU): c.503G> A (p.Trp168Ter) single nucleotide variant Pathogenic rs398123281 17:40689535-40689535 17:42537517-42537517
12 NAGLU NM_000263.4(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 17:40695970-40695970 17:42543952-42543952
13 NAGLU NM_000263.4(NAGLU): c.480del (p.Asn160fs) deletion Pathogenic rs886039894 17:40689512-40689512 17:42537494-42537494
14 NAGLU NM_000263.4(NAGLU): c.1944dup (p.Trp649fs) duplication Pathogenic rs886039895 17:40695968-40695968 17:42543950-42543950
15 NAGLU NM_000263.4(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic/Likely pathogenic rs104894590 17:40696045-40696045 17:42544027-42544027
16 NAGLU NM_000263.4(NAGLU): c.383+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs727504028 17:40688674-40688674 17:42536656-42536656
17 NAGLU NM_000263.4(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894596 17:40695468-40695468 17:42543450-42543450
18 NAGLU NM_000263.4(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic/Likely pathogenic rs104894598 17:40695718-40695718 17:42543700-42543700
19 NAGLU NM_000263.4(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894592 17:40693092-40693092 17:42541074-42541074
20 NAGLU NM_000263.4(NAGLU): c.1241A> G (p.His414Arg) single nucleotide variant Pathogenic/Likely pathogenic rs768814260 17:40695265-40695265 17:42543247-42543247
21 NAGLU NM_000263.4(NAGLU): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic/Likely pathogenic rs753520553 17:40689451-40689451 17:42537433-42537433
22 NAGLU NM_000263.4(NAGLU): c.1597C> T (p.Arg533Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1244655820 17:40695621-40695621 17:42543603-42543603
23 NAGLU NM_000263.4(NAGLU): c.1834A> G (p.Ser612Gly) single nucleotide variant Pathogenic/Likely pathogenic rs148881970 17:40695858-40695858 17:42543840-42543840
24 NAGLU NM_000263.4(NAGLU): c.1915G> T (p.Glu639Ter) single nucleotide variant Pathogenic/Likely pathogenic rs555145190 17:40695939-40695939 17:42543921-42543921
25 NAGLU NM_000263.4(NAGLU): c.1006G> T (p.Glu336Ter) single nucleotide variant Likely pathogenic rs376090795 17:40693209-40693209 17:42541191-42541191
26 NAGLU NM_000263.4(NAGLU): c.219_237del (p.Arg74fs) deletion Likely pathogenic rs1431589133 17:40688501-40688520 17:42536491-42536509
27 NAGLU NM_000263.4(NAGLU): c.2T> C (p.Met1Thr) single nucleotide variant Likely pathogenic rs1013345784 17:40688292-40688292 17:42536274-42536274
28 NAGLU NM_000263.4(NAGLU): c.220dup (p.Arg74fs) duplication Likely pathogenic rs1555621448 17:40688509-40688509 17:42536492-42536492
29 NAGLU NM_000263.4(NAGLU): c.1705C> T (p.Gln569Ter) single nucleotide variant Likely pathogenic rs1555622441 17:40695729-40695729 17:42543711-42543711
30 NAGLU NM_000263.4(NAGLU): c.1421G> A (p.Trp474Ter) single nucleotide variant Likely pathogenic rs1555622351 17:40695445-40695445 17:42543427-42543427
31 NAGLU NM_000263.4(NAGLU): c.1863G> A (p.Trp621Ter) single nucleotide variant Likely pathogenic rs1555622488 17:40695887-40695887 17:42543869-42543869
32 NAGLU NM_000263.4(NAGLU): c.1995del (p.Leu666fs) deletion Likely pathogenic rs1555622545 17:40696015-40696016 17:42544001-42544001
33 NAGLU NM_000263.4(NAGLU): c.1708G> T (p.Glu570Ter) single nucleotide variant Likely pathogenic rs1555622443 17:40695732-40695732 17:42543714-42543714
34 NAGLU NM_000263.4(NAGLU): c.2053_2054del (p.Ser685fs) deletion Likely pathogenic rs1555622559 17:40696076-40696078 17:42544059-42544060
35 NAGLU NM_000263.4(NAGLU): c.834_837CTTC[1] (p.Leu280fs) short repeat Likely pathogenic rs756865833 17:40693034-40693038 17:42541023-42541026
36 NAGLU NM_000263.4(NAGLU): c.867del (p.Ile290fs) deletion Likely pathogenic rs1555622019 17:40693066-40693067 17:42541052-42541052
37 NAGLU NM_000263.4(NAGLU): c.1811C> T (p.Pro604Leu) single nucleotide variant Likely pathogenic rs751203469 17:40695835-40695835 17:42543817-42543817
38 NAGLU NM_000263.4(NAGLU): c.4G> T (p.Glu2Ter) single nucleotide variant Likely pathogenic rs1555621397 17:40688294-40688294 17:42536276-42536276
39 NAGLU NM_000263.4(NAGLU): c.1932C> G (p.Tyr644Ter) single nucleotide variant Likely pathogenic rs1555622533 17:40695956-40695956 17:42543938-42543938
40 NAGLU NM_000263.4(NAGLU): c.2062C> T (p.Gln688Ter) single nucleotide variant Likely pathogenic rs1195831432 17:40696086-40696086 17:42544068-42544068
41 NAGLU NM_000263.4(NAGLU): c.2116C> T (p.Gln706Ter) single nucleotide variant Likely pathogenic rs752527478 17:40696140-40696140 17:42544122-42544122
42 NAGLU NM_000263.4(NAGLU): c.82del (p.Glu28fs) deletion Likely pathogenic rs1430122594 17:40688369-40688370 17:42536354-42536354
43 NAGLU NM_000263.4(NAGLU): c.343C> T (p.Pro115Ser) single nucleotide variant Likely pathogenic rs758785463 17:40688633-40688633 17:42536615-42536615
44 NAGLU NM_000263.4(NAGLU): c.384-1G> A single nucleotide variant Likely pathogenic rs764134891 17:40689415-40689415 17:42537397-42537397
45 NAGLU NM_000263.4(NAGLU): c.798_805del (p.Ser267fs) deletion Likely pathogenic rs1555622000 17:40692996-40693004 17:42540983-42540990
46 NAGLU NM_000263.4(NAGLU): c.1063del (p.Gln355fs) deletion Likely pathogenic rs1180591588 17:40695085-40695086 17:42543069-42543069
47 NAGLU NM_000263.4(NAGLU): c.1093C> T (p.Gln365Ter) single nucleotide variant Likely pathogenic rs1555622242 17:40695117-40695117 17:42543099-42543099
48 NAGLU NM_000263.4(NAGLU): c.1438_1447del (p.Ala480fs) deletion Likely pathogenic rs1555622354 17:40695461-40695471 17:42543444-42543453
49 NAGLU NM_000263.4(NAGLU): c.809del (p.His270fs) deletion Likely pathogenic rs1555622002 17:40693011-40693012 17:42540994-42540994
50 NAGLU NM_000263.4(NAGLU): c.13_16del (p.Ala5fs) deletion Likely pathogenic rs1555621402 17:40688301-40688305 17:42536285-42536288

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

74 (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 10.71 NAGPA NAGLU

GO Terms for Mucopolysaccharidosis, Type Iiib

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

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 8.96 NAGPA IGF2
2 lysosome organization GO:0007040 8.62 NAGPA NAGLU

Sources for Mucopolysaccharidosis, Type Iiib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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