MCID: MCP044
MIFTS: 44

Mucopolysaccharidosis, Type Iiib

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Skin diseases, Respiratory diseases, Blood 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 75 13
N-Acetyl-Alpha-D-Glucosaminidase Deficiency 57 53 75
Sanfilippo Syndrome B 57 53 75
Mps Iiib 57 53 75
Mps3b 57 59 75
Naglu Deficiency 57 75
Mps Iii B 55 73
N-Acetyl-Alpha-Glucosaminidase Deficiency 59
Mucopoly-Saccharidosis Type 3b 53
Mucopolysaccharidosis Type 3b 59
Sanfilippo Syndrome Type B 59
Mucopolysaccharidosis 3b 75
Mps Iii-B 76
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:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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 retinitis, and has symptoms including diarrhea, seizures and sleep disturbances. An important gene associated with Mucopolysaccharidosis, Type Iiib is NAGLU (N-Acetyl-Alpha-Glucosaminidase), and among its related pathways/superpathways is Lysosome. The drugs Methylprednisolone and Prednisolone 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 : 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 : 75 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 : 76 Sanfilippo syndrome, or mucopolysaccharidosis III (MPS-III) is a rare autosomal recessive lysosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Iiib

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Iiib

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation
sleep disturbances
neurologic deterioration, progressive
slowing mental development by 1.5 to 3 years of age

Cardiovascular Heart:
cardiomegaly
asymmetric septal hypertrophy

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

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

Abdomen Gastrointestinal:
diarrhea

Head And Neck Eyes:
synophrys
clear corneas

Skeletal Skull:
dense calvaria

Chest Ribs Sternum Clavicles And Scapulae:
thickened ribs

AbdomenSpleen:
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

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 recurrent upper respiratory tract infections 32 HP:0002788
13 diarrhea 32 HP:0002014
14 aggressive behavior 32 HP:0000718
15 synophrys 32 HP:0000664
16 hyperactivity 32 HP:0000752
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

UMLS symptoms related to Mucopolysaccharidosis, Type Iiib:


diarrhea, seizures, sleep disturbances, joint stiffness

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
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
2
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
3 insulin Phase 1, Phase 2
4 Insulin, Globin Zinc Phase 1, Phase 2
5 Mitogens Phase 1, Phase 2
6 Methylprednisolone acetate Phase 1, Phase 2
7 Methylprednisolone Hemisuccinate Phase 1, Phase 2
8 Prednisolone acetate Phase 1, Phase 2
9 Prednisolone hemisuccinate Phase 1, Phase 2
10 Prednisolone phosphate Phase 1, Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Treatment Study of Mucopolysaccharidosis Type IIIB Recruiting NCT02754076 Phase 1, Phase 2 BMN 250
2 Gene Transfer Clinical Trial for Mucopolysaccharidosis (MPS) IIIB Recruiting NCT03315182 Phase 1, Phase 2
3 Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 in MPS IIIB Active, not recruiting NCT02324049 Phase 1, Phase 2 SBC-103
4 Intracerebral Gene Therapy in Children With Sanfilippo Type B Syndrome Active, not recruiting NCT03300453 Phase 1, Phase 2 rAAV2/5-hNAGLU
5 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
6 Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging Completed NCT02090179
7 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 Natural History Studies of Mucopolysaccharidosis III Completed NCT02037880
10 Neurobehavioral Phenotypes in MPS III Completed NCT01873911
11 A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Recruiting NCT03227042
12 Natural History Study to Characterise the Course of Disease Progression in Patients With Mucopolysaccharidosis Type IIIB Active, not recruiting NCT02293408
13 A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB) Active, not recruiting NCT02493998
14 Biomarker for Sanfilippo Disease Terminated NCT02298686

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:

41
Brain, Bone, Eye, Spinal Cord

Publications for Mucopolysaccharidosis, Type Iiib

Articles related to Mucopolysaccharidosis, Type Iiib:

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

Variations for Mucopolysaccharidosis, Type Iiib

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

75 (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
15 NAGLU p.Gly292Arg VAR_008985
16 NAGLU p.Glu452Lys VAR_008986
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
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
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
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
43 NAGLU p.Trp268Arg VAR_054715
44 NAGLU p.Tyr309Cys VAR_054716
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 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs104894590 GRCh37 Chromosome 17, 40696045: 40696045
2 NAGLU NM_000263.3(NAGLU): c.2021G> A (p.Arg674His) single nucleotide variant Pathogenic rs104894590 GRCh38 Chromosome 17, 42544027: 42544027
3 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh37 Chromosome 17, 40695900: 40695900
4 NAGLU NM_000263.3(NAGLU): c.1876C> T (p.Arg626Ter) single nucleotide variant Pathogenic rs104894591 GRCh38 Chromosome 17, 42543882: 42543882
5 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs104894592 GRCh37 Chromosome 17, 40693092: 40693092
6 NAGLU NM_000263.3(NAGLU): c.889C> T (p.Arg297Ter) single nucleotide variant Pathogenic rs104894592 GRCh38 Chromosome 17, 42541074: 42541074
7 NAGLU NM_000263.3(NAGLU): c.1928G> A (p.Arg643His) single nucleotide variant Pathogenic rs104894593 GRCh37 Chromosome 17, 40695952: 40695952
8 NAGLU NM_000263.3(NAGLU): c.1928G> A (p.Arg643His) single nucleotide variant Pathogenic rs104894593 GRCh38 Chromosome 17, 42543934: 42543934
9 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh37 Chromosome 17, 40689535: 40689544
10 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh38 Chromosome 17, 42537517: 42537526
11 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh37 Chromosome 17, 40695951: 40695951
12 NAGLU NM_000263.3(NAGLU): c.1927C> T (p.Arg643Cys) single nucleotide variant Pathogenic rs104894594 GRCh38 Chromosome 17, 42543933: 42543933
13 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh37 Chromosome 17, 40695586: 40695586
14 NAGLU NM_000263.3(NAGLU): c.1562C> T (p.Pro521Leu) single nucleotide variant Pathogenic rs104894595 GRCh38 Chromosome 17, 42543568: 42543568
15 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh37 Chromosome 17, 40695717: 40695717
16 NAGLU NM_000263.3(NAGLU): c.1693C> T (p.Arg565Trp) single nucleotide variant Pathogenic rs104894597 GRCh38 Chromosome 17, 42543699: 42543699
17 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Likely pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
18 NAGLU NM_000263.3(NAGLU): c.1694G> C (p.Arg565Pro) single nucleotide variant Likely pathogenic rs104894598 GRCh38 Chromosome 17, 42543700: 42543700
19 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh37 Chromosome 17, 40688432: 40688432
20 NAGLU NM_000263.3(NAGLU): c.142T> C (p.Phe48Leu) single nucleotide variant Pathogenic rs118204024 GRCh38 Chromosome 17, 42536414: 42536414
21 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh37 Chromosome 17, 40693145: 40693145
22 NAGLU NM_000263.3(NAGLU): c.942C> G (p.Phe314Leu) single nucleotide variant Pathogenic rs118204025 GRCh38 Chromosome 17, 42541127: 42541127
23 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs104894596 GRCh37 Chromosome 17, 40695468: 40695468
24 NAGLU NM_000263.3(NAGLU): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic rs104894596 GRCh38 Chromosome 17, 42543450: 42543450
25 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh37 Chromosome 17, 40690709: 40690709
26 NAGLU NM_000263.3(NAGLU): c.700C> T (p.Arg234Cys) single nucleotide variant Pathogenic rs104894601 GRCh38 Chromosome 17, 42538691: 42538691
27 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic rs104894598 GRCh37 Chromosome 17, 40695718: 40695718
28 NAGLU NM_000263.3(NAGLU): c.1694G> A (p.Arg565Gln) single nucleotide variant Pathogenic rs104894598 GRCh38 Chromosome 17, 42543700: 42543700
29 NAGLU NM_000263.3(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 GRCh37 Chromosome 17, 40695970: 40695970
30 NAGLU NM_000263.3(NAGLU): c.1946G> T (p.Trp649Leu) single nucleotide variant Pathogenic rs527236038 GRCh38 Chromosome 17, 42543952: 42543952
31 NAGLU NM_000263.3(NAGLU): c.1949G> A (p.Gly650Glu) single nucleotide variant Pathogenic rs527236037 GRCh37 Chromosome 17, 40695973: 40695973
32 NAGLU NM_000263.3(NAGLU): c.1949G> A (p.Gly650Glu) single nucleotide variant Pathogenic rs527236037 GRCh38 Chromosome 17, 42543955: 42543955
33 NAGLU NM_000263.3(NAGLU): c.944dupA (p.Asn315Lysfs) duplication Pathogenic rs797044751 GRCh37 Chromosome 17, 40693147: 40693147
34 NAGLU NM_000263.3(NAGLU): c.944dupA (p.Asn315Lysfs) duplication Pathogenic rs797044751 GRCh38 Chromosome 17, 42541129: 42541129
35 NAGLU NM_000263.3(NAGLU): c.480delT (p.Asn160Lysfs) deletion Pathogenic rs886039894 GRCh37 Chromosome 17, 40689512: 40689512
36 NAGLU NM_000263.3(NAGLU): c.480delT (p.Asn160Lysfs) deletion Pathogenic rs886039894 GRCh38 Chromosome 17, 42537494: 42537494
37 NAGLU NM_000263.3(NAGLU): c.1944dupG (p.Trp649Valfs) duplication Pathogenic rs886039895 GRCh37 Chromosome 17, 40695968: 40695968
38 NAGLU NM_000263.3(NAGLU): c.1944dupG (p.Trp649Valfs) duplication Pathogenic rs886039895 GRCh38 Chromosome 17, 42543950: 42543950
39 NAGLU NM_000263.3(NAGLU): c.701G> C (p.Arg234Pro) single nucleotide variant Likely pathogenic rs886042073 GRCh37 Chromosome 17, 40690710: 40690710
40 NAGLU NM_000263.3(NAGLU): c.701G> C (p.Arg234Pro) single nucleotide variant Likely pathogenic rs886042073 GRCh38 Chromosome 17, 42538692: 42538692
41 NAGLU NM_000263.3(NAGLU): c.1788C> T (p.Gly596=) single nucleotide variant Benign rs115166595 GRCh37 Chromosome 17, 40695812: 40695812
42 NAGLU NM_000263.3(NAGLU): c.1788C> T (p.Gly596=) single nucleotide variant Benign rs115166595 GRCh38 Chromosome 17, 42543794: 42543794
43 NAGLU NM_000263.3(NAGLU): c.648dupC (p.Ser217Leufs) duplication Pathogenic rs886043791 GRCh37 Chromosome 17, 40690473: 40690473
44 NAGLU NM_000263.3(NAGLU): c.648dupC (p.Ser217Leufs) duplication Pathogenic rs886043791 GRCh38 Chromosome 17, 42538455: 42538455
45 NAGLU NM_000263.3(NAGLU): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs886043792 GRCh37 Chromosome 17, 40690703: 40690703
46 NAGLU NM_000263.3(NAGLU): c.694C> T (p.Gln232Ter) single nucleotide variant Pathogenic rs886043792 GRCh38 Chromosome 17, 42538685: 42538685
47 NAGLU NM_000263.3(NAGLU): c.1515C> T (p.Ser505=) single nucleotide variant Conflicting interpretations of pathogenicity rs112751577 GRCh37 Chromosome 17, 40695539: 40695539
48 NAGLU NM_000263.3(NAGLU): c.1515C> T (p.Ser505=) single nucleotide variant Conflicting interpretations of pathogenicity rs112751577 GRCh38 Chromosome 17, 42543521: 42543521
49 NAGLU NM_000263.3(NAGLU): c.1860C> T (p.Ser620=) single nucleotide variant Conflicting interpretations of pathogenicity rs151013014 GRCh38 Chromosome 17, 42543866: 42543866
50 NAGLU NM_000263.3(NAGLU): c.1860C> T (p.Ser620=) single nucleotide variant Conflicting interpretations of pathogenicity rs151013014 GRCh37 Chromosome 17, 40695884: 40695884

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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38 LifeMap
40 LOVD
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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