MPS3B
MCID: MCP044
MIFTS: 44

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 58 41
Mucopolysaccharidosis Type Iiib 58 54 60 76 13
N-Acetyl-Alpha-D-Glucosaminidase Deficiency 58 54 76
Sanfilippo Syndrome B 58 54 76
Mps Iiib 58 54 76
Mps3b 58 60 76
Naglu Deficiency 58 76
Mps Iii B 56 74
N-Acetyl-Alpha-Glucosaminidase Deficiency 60
Mucopoly-Saccharidosis Type 3b 54
Mucopolysaccharidosis Type 3b 60
Sanfilippo Syndrome Type B 60
Mucopolysaccharidosis 3b 76
Mps Iii-B 77
Mpsiiib 60
Mps 3b 54

Characteristics:

Orphanet epidemiological data:

60
sanfilippo syndrome type b
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),<1/1000000 (Sweden); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
mucopolysaccharidosis, type iiib:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis, Type Iiib

NIH Rare Diseases : 54 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 Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and eye, and related phenotypes are intellectual disability and seizures

OMIM : 58 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 : 76 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 : 77 Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease. It is caused by a... more...

Related Diseases for Mucopolysaccharidosis, Type Iiib

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:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 sleep disturbance 33 HP:0002360
4 coarse facial features 33 HP:0000280
5 hearing impairment 33 HP:0000365
6 splenomegaly 33 HP:0001744
7 hepatomegaly 33 HP:0002240
8 joint stiffness 33 HP:0001387
9 coarse hair 33 HP:0002208
10 dysostosis multiplex 33 HP:0000943
11 cardiomegaly 33 HP:0001640
12 recurrent upper respiratory tract infections 33 HP:0002788
13 aggressive behavior 33 HP:0000718
14 diarrhea 33 HP:0002014
15 synophrys 33 HP:0000664
16 hyperactivity 33 HP:0000752
17 hirsutism 33 HP:0001007
18 progressive neurologic deterioration 33 HP:0002344
19 ovoid thoracolumbar vertebrae 33 HP:0003309
20 dense calvaria 33 HP:0000250
21 thickened ribs 33 HP:0000900
22 asymmetric septal hypertrophy 33 HP:0001670
23 heparan sulfate excretion in urine 33 HP:0002159

Symptoms via clinical synopsis from OMIM:

58
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

Head And Neck Ears:
hearing loss

Respiratory Nasopharynx:
frequent upper respiratory infections

Skeletal:
mild dysostosis multiplex

Skeletal Limbs:
mild joint stiffness

Head And Neck Face:
coarse facies, mild

Skin Nails Hair Hair:
coarse hair
synophrys
hirsutism

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

Head And Neck Eyes:
synophrys
clear corneas

Skeletal Skull:
dense calvaria

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

Abdomen Spleen:
mild splenomegaly

Abdomen Liver:
mild hepatomegaly

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

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):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
2
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
3
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
4
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
5
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
6 insulin Phase 1, Phase 2,Phase 2
7 Insulin, Globin Zinc Phase 1, Phase 2,Phase 2
8 Mitogens Phase 1, Phase 2,Phase 2
9 Prednisolone acetate Phase 1, Phase 2
10 Methylprednisolone Acetate Phase 1, Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in Mucopolysaccharidosis III, Type B (MPS IIIB) Completed NCT02324049 Phase 1, Phase 2 SBC-103
2 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
3 Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
4 Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome Active, not recruiting NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
5 A Treatment Extension Study of Mucopolysaccharidosis Type IIIB Enrolling by invitation NCT03784287 Phase 2 BMN 250
6 A Open Label Study in Previously Studied, SBC-103 Treatment Naïve MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Terminated NCT02618512 Phase 1, Phase 2 SBC-103
7 Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging Completed NCT02090179
8 Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT01509768
9 A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB Completed NCT02293382
10 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
11 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
12 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT03227042
13 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998
14 Natural History Study to Characterise the Course of Disease Progression in Participants With Mucopolysaccharidosis Type IIIB Terminated NCT02293408

Search NIH Clinical Center for Mucopolysaccharidosis, Type Iiib

Genetic Tests for Mucopolysaccharidosis, Type Iiib

Anatomical Context for Mucopolysaccharidosis, Type Iiib

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Iiib:

42
Brain, Bone, Eye, Spinal Cord, Skin, Liver

Publications for Mucopolysaccharidosis, Type Iiib

Articles related to Mucopolysaccharidosis, Type Iiib:

(show all 33)
# Title Authors Year
1
A model of mucopolysaccharidosis type IIIB in pigs. ( 30257828 )
2018
2
High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB. ( 28836185 )
2018
3
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature. ( 28751108 )
2017
4
Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome. ( 28713036 )
2017
5
Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial. ( 28713035 )
2017
6
Long-term clinical course of a patient with mucopolysaccharidosis type IIIB. ( 28018442 )
2016
7
The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study. ( 26918231 )
2016
8
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. ( 26907177 )
2016
9
Biochemical, histological and functional correction of mucopolysaccharidosis type IIIB by intra-cerebrospinal fluid gene therapy. ( 25524704 )
2015
10
Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae). ( 24723233 )
2015
11
Electrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB. ( 26607664 )
2015
12
Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. ( 25267636 )
2014
13
Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. ( 24266751 )
2014
14
Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. ( 23661660 )
2013
15
Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis. ( 23380547 )
2013
16
Dental Findings and Management in a Mucopolysaccharidosis Type IIIB Patient. ( 23433622 )
2012
17
Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice. ( 22867887 )
2012
18
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. ( 20852935 )
2010
19
Hemiatrophy of the spinal cord in a patient with mucopolysaccharidosis type IIIB. ( 20197271 )
2010
20
GAP43 overexpression and enhanced neurite outgrowth in mucopolysaccharidosis type IIIB cortical neuron cultures. ( 19658197 )
2010
21
Novel pathologic findings associated with urinary retention in a mouse model of mucopolysaccharidosis type IIIB. ( 19389305 )
2009
22
Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB. ( 19386237 )
2009
23
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. ( 18218046 )
2008
24
Bovine mucopolysaccharidosis type IIIB. ( 17458708 )
2007
25
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. ( 15649123 )
2005
26
Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer. ( 12049639 )
2002
27
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). ( 11836372 )
2002
28
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. ( 11414757 )
2001
29
Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient. ( 11068184 )
2000
30
Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. ( 9950362 )
1999
31
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). ( 9832037 )
1998
32
Diagnosis of mucopolysaccharidosis type IIIB. ( 8942024 )
1996
33
Pathologic findings in mucopolysaccharidosis type IIIB (Sanfilippo's sydnrome B). ( 6775621 )
1980

Variations for Mucopolysaccharidosis, Type Iiib

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

76 (show top 50) (show all 67)
# Symbol AA change Variation ID SNP ID
1 NAGLU p.Tyr92His VAR_005007
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

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Iiib:

6 (show top 50) (show all 244)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAGLU NM_000263.3(NAGLU): c.26_31del6 (p.Ala9_Val10del) deletion Uncertain significance rs1555621405 GRCh37 Chromosome 17, 40688313: 40688319
2 NAGLU NM_000263.3(NAGLU): c.26_31del6 (p.Ala9_Val10del) deletion Uncertain significance rs1555621405 GRCh38 Chromosome 17, 42536298: 42536303
3 NAGLU NM_000263.3(NAGLU): c.193delT (p.Tyr65Thrfs) deletion Likely pathogenic rs1555621432 GRCh37 Chromosome 17, 40688482: 40688483
4 NAGLU NM_000263.3(NAGLU): c.193delT (p.Tyr65Thrfs) deletion Likely pathogenic rs1555621432 GRCh38 Chromosome 17, 42536465: 42536465
5 NAGLU NM_000263.3(NAGLU): c.202_203insCCG (p.Leu67_Gly68insAla) insertion Uncertain significance rs1469781984 GRCh37 Chromosome 17, 40688491: 40688491
6 NAGLU NM_000263.3(NAGLU): c.202_203insCCG (p.Leu67_Gly68insAla) insertion Uncertain significance rs1469781984 GRCh38 Chromosome 17, 42536474: 42536475
7 NAGLU NM_000263.3(NAGLU): c.257_262dup (p.Ala87_Gly88insAlaAla) duplication Uncertain significance rs1555621450 GRCh37 Chromosome 17, 40688545: 40688545
8 NAGLU NM_000263.3(NAGLU): c.257_262dup (p.Ala87_Gly88insAlaAla) duplication Uncertain significance rs1555621450 GRCh38 Chromosome 17, 42536529: 42536534
9 NAGLU NM_000263.3(NAGLU): c.358G> T (p.Glu120Ter) single nucleotide variant Pathogenic rs1445294968 GRCh37 Chromosome 17, 40688648: 40688648
10 NAGLU NM_000263.3(NAGLU): c.358G> T (p.Glu120Ter) single nucleotide variant Pathogenic rs1445294968 GRCh38 Chromosome 17, 42536630: 42536630
11 NAGLU NM_000263.3(NAGLU): c.515_517delAGG (p.Glu172del) deletion Uncertain significance rs1555621605 GRCh37 Chromosome 17, 40689543: 40689546
12 NAGLU NM_000263.3(NAGLU): c.515_517delAGG (p.Glu172del) deletion Uncertain significance rs1555621605 GRCh38 Chromosome 17, 42537529: 42537531
13 NAGLU NM_000263.3(NAGLU): c.809delA (p.His270Profs) deletion Likely pathogenic rs1555622002 GRCh37 Chromosome 17, 40693011: 40693012
14 NAGLU NM_000263.3(NAGLU): c.809delA (p.His270Profs) deletion Likely pathogenic rs1555622002 GRCh38 Chromosome 17, 42540994: 42540994
15 NAGLU NM_000263.3(NAGLU): c.874G> A (p.Gly292Arg) single nucleotide variant Likely pathogenic rs1358994052 GRCh37 Chromosome 17, 40693077: 40693077
16 NAGLU NM_000263.3(NAGLU): c.874G> A (p.Gly292Arg) single nucleotide variant Likely pathogenic rs1358994052 GRCh38 Chromosome 17, 42541059: 42541059
17 NAGLU NM_000263.3(NAGLU): c.1004A> G (p.Tyr335Cys) single nucleotide variant Uncertain significance rs768918822 GRCh37 Chromosome 17, 40693207: 40693207
18 NAGLU NM_000263.3(NAGLU): c.1004A> G (p.Tyr335Cys) single nucleotide variant Uncertain significance rs768918822 GRCh38 Chromosome 17, 42541189: 42541189
19 NAGLU NM_000263.3(NAGLU): c.1063delC (p.Gln355Serfs) deletion Likely pathogenic rs1180591588 GRCh37 Chromosome 17, 40695085: 40695086
20 NAGLU NM_000263.3(NAGLU): c.1063delC (p.Gln355Serfs) deletion Likely pathogenic rs1180591588 GRCh38 Chromosome 17, 42543069: 42543069
21 NAGLU NM_000263.3(NAGLU): c.1093C> T (p.Gln365Ter) single nucleotide variant Likely pathogenic rs1555622242 GRCh37 Chromosome 17, 40695117: 40695117
22 NAGLU NM_000263.3(NAGLU): c.1093C> T (p.Gln365Ter) single nucleotide variant Likely pathogenic rs1555622242 GRCh38 Chromosome 17, 42543099: 42543099
23 NAGLU NM_000263.3(NAGLU): c.1211G> A (p.Trp404Ter) single nucleotide variant Pathogenic rs904672363 GRCh37 Chromosome 17, 40695235: 40695235
24 NAGLU NM_000263.3(NAGLU): c.1211G> A (p.Trp404Ter) single nucleotide variant Pathogenic rs904672363 GRCh38 Chromosome 17, 42543217: 42543217
25 NAGLU NM_000263.3(NAGLU): c.1229T> C (p.Phe410Ser) single nucleotide variant Uncertain significance rs574688121 GRCh37 Chromosome 17, 40695253: 40695253
26 NAGLU NM_000263.3(NAGLU): c.1229T> C (p.Phe410Ser) single nucleotide variant Uncertain significance rs574688121 GRCh38 Chromosome 17, 42543235: 42543235
27 NAGLU NM_000263.3(NAGLU): c.1241A> G (p.His414Arg) single nucleotide variant Pathogenic rs768814260 GRCh37 Chromosome 17, 40695265: 40695265
28 NAGLU NM_000263.3(NAGLU): c.1241A> G (p.His414Arg) single nucleotide variant Pathogenic rs768814260 GRCh38 Chromosome 17, 42543247: 42543247
29 NAGLU NM_000263.3(NAGLU): c.1395_1397delGGA (p.Lys465_Asp466delinsAsn) deletion Uncertain significance rs1555622346 GRCh37 Chromosome 17, 40695417: 40695420
30 NAGLU NM_000263.3(NAGLU): c.1395_1397delGGA (p.Lys465_Asp466delinsAsn) deletion Uncertain significance rs1555622346 GRCh38 Chromosome 17, 42543401: 42543403
31 NAGLU NM_000263.3(NAGLU): c.1438_1447del10 (p.Ala480Metfs) deletion Likely pathogenic rs1555622354 GRCh37 Chromosome 17, 40695461: 40695471
32 NAGLU NM_000263.3(NAGLU): c.1438_1447del10 (p.Ala480Metfs) deletion Likely pathogenic rs1555622354 GRCh38 Chromosome 17, 42543444: 42543453
33 NAGLU NM_000263.3(NAGLU): c.2229G> A (p.Trp743Ter) single nucleotide variant Uncertain significance rs749371796 GRCh38 Chromosome 17, 42544235: 42544235
34 NAGLU NM_000263.3(NAGLU): c.2229G> A (p.Trp743Ter) single nucleotide variant Uncertain significance rs749371796 GRCh37 Chromosome 17, 40696253: 40696253
35 NAGLU NM_000263.3(NAGLU): c.2186_2188delAGA (p.Lys729del) deletion Uncertain significance rs1216052074 GRCh38 Chromosome 17, 42544192: 42544194
36 NAGLU NM_000263.3(NAGLU): c.2186_2188delAGA (p.Lys729del) deletion Uncertain significance rs1216052074 GRCh37 Chromosome 17, 40696205: 40696208
37 NAGLU NM_000263.3(NAGLU): c.1811C> T (p.Pro604Leu) single nucleotide variant Likely pathogenic rs751203469 GRCh38 Chromosome 17, 42543817: 42543817
38 NAGLU NM_000263.3(NAGLU): c.1811C> T (p.Pro604Leu) single nucleotide variant Likely pathogenic rs751203469 GRCh37 Chromosome 17, 40695835: 40695835
39 NAGLU NM_000263.3(NAGLU): c.2158C> T (p.Arg720Ter) single nucleotide variant Uncertain significance rs1555622589 GRCh38 Chromosome 17, 42544164: 42544164
40 NAGLU NM_000263.3(NAGLU): c.2158C> T (p.Arg720Ter) single nucleotide variant Uncertain significance rs1555622589 GRCh37 Chromosome 17, 40696182: 40696182
41 NAGLU NM_000263.3(NAGLU): c.1772T> C (p.Leu591Pro) single nucleotide variant Uncertain significance rs1215582852 GRCh38 Chromosome 17, 42543778: 42543778
42 NAGLU NM_000263.3(NAGLU): c.1772T> C (p.Leu591Pro) single nucleotide variant Uncertain significance rs1215582852 GRCh37 Chromosome 17, 40695796: 40695796
43 NAGLU NM_000263.3(NAGLU): c.2053_2054delAG (p.Ser685Cysfs) deletion Likely pathogenic rs1555622559 GRCh38 Chromosome 17, 42544059: 42544060
44 NAGLU NM_000263.3(NAGLU): c.2053_2054delAG (p.Ser685Cysfs) deletion Likely pathogenic rs1555622559 GRCh37 Chromosome 17, 40696076: 40696078
45 NAGLU NM_000263.3(NAGLU): c.1708G> T (p.Glu570Ter) single nucleotide variant Likely pathogenic rs1555622443 GRCh38 Chromosome 17, 42543714: 42543714
46 NAGLU NM_000263.3(NAGLU): c.1708G> T (p.Glu570Ter) single nucleotide variant Likely pathogenic rs1555622443 GRCh37 Chromosome 17, 40695732: 40695732
47 NAGLU NM_000263.3(NAGLU): c.1995delG (p.Leu666Trpfs) deletion Likely pathogenic rs1555622545 GRCh38 Chromosome 17, 42544001: 42544001
48 NAGLU NM_000263.3(NAGLU): c.1995delG (p.Leu666Trpfs) deletion Likely pathogenic rs1555622545 GRCh37 Chromosome 17, 40696015: 40696016
49 NAGLU NM_000263.3(NAGLU): c.1863G> A (p.Trp621Ter) single nucleotide variant Likely pathogenic rs1555622488 GRCh38 Chromosome 17, 42543869: 42543869
50 NAGLU NM_000263.3(NAGLU): c.1863G> A (p.Trp621Ter) single nucleotide variant Likely pathogenic rs1555622488 GRCh37 Chromosome 17, 40695887: 40695887

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 NAGLU NAGPA

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 IGF2 NAGPA
2 lysosome organization GO:0007040 8.62 NAGLU NAGPA

Sources for Mucopolysaccharidosis, Type Iiib

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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