MPS4B
MCID: MCP048
MIFTS: 54

Mucopolysaccharidosis, Type Ivb (MPS4B)

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 Ivb

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ivb:

Name: Mucopolysaccharidosis, Type Ivb 57 39
Mucopolysaccharidosis Type Ivb 57 12 20 58 72 29 13 15 70
Mps Ivb 57 12 20 72 6
Morquio Syndrome B 57 12 20 72
Mps4b 57 12 58 72
Beta-D-Galactosidase Deficiency 12 58
Morquio Disease Type B 12 58
Mucopolysaccharidosis Type Iv-B 73
Mucopolysaccharidosis Type 4b 58
Mucopolysaccharidosis 4b 72
Morquio Disease, Type B 73
Morquio's Syndrome B 72
Mps-Ivb 72
Mps 4b 20
Mpsivb 58

Characteristics:

Orphanet epidemiological data:

58
mucopolysaccharidosis type 4b
Inheritance: Autosomal recessive;

OMIM®:

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

Miscellaneous:
appear normal at birth
onset between 1-3 years


HPO:

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


Classifications:

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


External Ids:

Disease Ontology 12 DOID:0111392
OMIM® 57 253010
OMIM Phenotypic Series 57 PS607014
MeSH 44 D009085
NCIt 50 C84902
SNOMED-CT 67 254075008
ICD10 32 E76.211
ICD10 via Orphanet 33 E76.2
UMLS via Orphanet 71 C0086652
Orphanet 58 ORPHA309310
MedGen 41 C0086652
UMLS 70 C0086652

Summaries for Mucopolysaccharidosis, Type Ivb

UniProtKB/Swiss-Prot : 72 Mucopolysaccharidosis 4B: A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.

MalaCards based summary : Mucopolysaccharidosis, Type Ivb, also known as mucopolysaccharidosis type ivb, is related to gangliosidosis and gm1-gangliosidosis, type i, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis, Type Ivb is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include eye, heart and lung, and related phenotypes are scoliosis and kyphosis

Disease Ontology : 12 A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has material basis in homozygous or compound heterozygous mutation in GLB1 on chromosome 3p22.3.

OMIM® : 57 Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001). See mucopolysaccharidosis type IVA (253000), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (612222) on chromosome 16q24. There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (252300). (253010) (Updated 05-Apr-2021)

Wikipedia : 73 Morquio syndrome, also known as Mucopolysaccharidosis Type IV (MPS IV), is a rare metabolic disorder in... more...

Related Diseases for Mucopolysaccharidosis, Type Ivb

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 Ivb via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 gangliosidosis 30.7 TMPPE GLB1 GALNS CTSA
2 gm1-gangliosidosis, type i 30.6 TMPPE GLB1
3 gm1-gangliosidosis, type iii 30.6 TMPPE GLB1
4 gm1-gangliosidosis, type ii 30.4 TMPPE IDS GLB1 CTSA
5 morquio syndrome 30.2 TMPPE GLB1 GALNS CTSA
6 glycoproteinosis 30.1 GLB1 GALNS CTSA ARSB
7 galactosialidosis 30.1 IDUA GLB1 GALNS CTSA
8 mucopolysaccharidosis iv 29.0 TMPPE SUMF1 SGSH NAGLU IDUA IDS
9 gm1 gangliosidosis 28.4 TMPPE SUMF1 SGSH NAGLU IDUA GLB1L3
10 mucopolysaccharidosis, type iva 28.2 SUMF1 SGSH NAGLU IDUA IDS GNS
11 mucopolysaccharidosis-plus syndrome 27.9 SUMF1 SGSH NAGLU IDUA IDS HYAL1
12 morquio syndrome c 11.1
13 dwarfism 10.1
14 pectus carinatum 10.1
15 mongolian spot 10.1 NAGLU IDUA GLB1
16 oligosaccharidosis 10.1
17 mucolipidosis ii alpha/beta 10.0 NAGLU IDUA GALNS
18 mannosidosis, alpha b, lysosomal 10.0 SGSH IDUA
19 kluver-bucy syndrome 10.0 SGSH NAGLU HGSNAT
20 mucopolysaccharidosis, type ix 10.0 HYAL1 HGSNAT
21 bell's palsy 10.0 EML5 CSGALNACT1 CARMIL3
22 skin hemangioma 9.9 GLA CTSA
23 fucosidosis 9.9 NAGLU IDUA GLB1 GALNS ARSB
24 ceroid lipofuscinosis, neuronal, 3 9.9 SUMF1 SGSH NAGLU
25 multiple sulfatase deficiency 9.8 SUMF1 GNS GALNS ARSB
26 mucopolysaccharidoses 9.8 SGSH NAGLU IDUA HGSNAT ARSB
27 angiokeratoma 9.8 GLA CTSA
28 tay-sachs disease 9.7 SGSH IDUA IDS GLB1 GLA
29 mucolipidosis 9.7 SUMF1 IDUA GLB1 GALNS CTSA ARSB
30 krabbe disease 9.6 SGSH IDUA IDS GLB1 GLA ARSB
31 hurler-scheie syndrome 9.6 SUMF1 SGSH NAGLU IDUA GALNS ARSB
32 sphingolipidosis 9.5 SUMF1 SGSH IDUA GLB1 GLA CTSA
33 metachromatic leukodystrophy 9.5 SUMF1 SGSH IDUA IDS GLA ARSB
34 mucopolysaccharidosis, type vii 9.4 SGSH NAGLU IDUA IDS HGSNAT GNS
35 hurler syndrome 9.2 SUMF1 NAGLU IDUA IDS GNS GLB1
36 mucopolysaccharidosis, type iiic 9.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
37 mucopolysaccharidosis, type iiib 9.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
38 mucopolysaccharidosis, type iiia 9.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
39 mucopolysaccharidosis iii 9.0 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
40 mucopolysaccharidosis, type iiid 9.0 SUMF1 SGSH NAGLU IDUA IDS HYAL1
41 mucopolysaccharidosis, type vi 8.9 SUMF1 NAGLU IDUA IDS HGSNAT GNS
42 mucopolysaccharidosis, type ii 8.7 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
43 lysosomal storage disease 8.3 SUMF1 SGSH NAGLU IDUA IDS HYAL1
44 scheie syndrome 8.3 SUMF1 SGSH NAGLU IDUA IDS HYAL1

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



Diseases related to Mucopolysaccharidosis, Type Ivb

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Ivb

Human phenotypes related to Mucopolysaccharidosis, Type Ivb:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 kyphosis 31 HP:0002808
3 hyperlordosis 31 HP:0003307
4 coarse facial features 31 HP:0000280
5 hearing impairment 31 HP:0000365
6 hepatomegaly 31 HP:0002240
7 inguinal hernia 31 HP:0000023
8 mandibular prognathia 31 HP:0000303
9 widely spaced teeth 31 HP:0000687
10 carious teeth 31 HP:0000670
11 recurrent upper respiratory tract infections 31 HP:0002788
12 genu valgum 31 HP:0002857
13 ovoid vertebral bodies 31 HP:0003300
14 disproportionate short-trunk short stature 31 HP:0003521
15 opacification of the corneal stroma 31 HP:0007759
16 osteoporosis 31 HP:0000939
17 joint laxity 31 HP:0001388
18 wide mouth 31 HP:0000154
19 platyspondyly 31 HP:0000926
20 coxa valga 31 HP:0002673
21 ulnar deviation of the wrist 31 HP:0003049
22 hypoplasia of the odontoid process 31 HP:0003311
23 prominent sternum 31 HP:0000884
24 aortic valve stenosis 31 HP:0001650
25 decreased beta-galactosidase activity 31 HP:0008166
26 restrictive ventilatory defect 31 HP:0002091
27 grayish enamel 31 HP:0000683
28 metaphyseal widening 31 HP:0003016
29 keratan sulfate excretion in urine 31 HP:0012069
30 cervical myelopathy 31 HP:0002318
31 cervical subluxation 31 HP:0003308
32 flaring of rib cage 31 HP:0000904
33 pointed proximal second through fifth metacarpals 31 HP:0001223
34 epiphyseal deformities of tubular bones 31 HP:0003053
35 constricted iliac wings 31 HP:0003277
36 intimal thickening in the coronary arteries 31 HP:0005292

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis
hyperlordosis
ovoid vertebral bodies
platyspondyly
more
Head And Neck Teeth:
widely spaced teeth
grayish enamel
frequent caries

Skeletal:
osteoporosis

Chest Ribs Sternum Clavicles And Scapulae:
prominent sternum
flaring of rib cage

Skeletal Hands:
pointed proximal second through fifth metacarpals

Head And Neck Ears:
hearing loss

Respiratory Lung:
restrictive lung disease

Head And Neck Mouth:
broad mouth

Respiratory Airways:
frequent upper respiratory tract infections

Laboratory Abnormalities:
keratan sulfate excretion in urine that decreases with age
beta-galactosidase deficiency in fibroblasts and white blood cells

Abdomen External Features:
inguinal hernia

Skeletal Limbs:
genu valgum
joint laxity
ulnar deviation of the wrist
epiphyseal deformities of tubular bones
widened metaphyses

Skeletal Pelvis:
coxa valga
constricted iliac wings

Neurologic Central Nervous System:
cervical myelopathy
normal intelligence

Cardiovascular Vascular:
intimal thickening in the coronary arteries

Head And Neck Face:
prognathism
coarse facial features, mild

Head And Neck Eyes:
corneal opacities

Growth Height:
short-trunked dwarfism
adult height 82-115 cm

Abdomen Liver:
hepatomegaly, mild

Cardiovascular Heart:
valvular heart disease aortic valve stenosis

Clinical features from OMIM®:

253010 (Updated 05-Apr-2021)

UMLS symptoms related to Mucopolysaccharidosis, Type Ivb:


ulnar deviation of the wrist

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Ivb:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 ARSB CSGALNACT1 CTSA GALNS GLA GLB1
2 behavior/neurological MP:0005386 10.23 ARSB CSGALNACT1 CTSA GLA GLB1 GNS
3 immune system MP:0005387 10.13 CARMIL3 CFAP161 CTSA GLA GLB1 GNS
4 hematopoietic system MP:0005397 10.11 ARSB CFAP161 CTSA GLB1 GNS HGSNAT
5 craniofacial MP:0005382 10.01 ARSB CSGALNACT1 CTSA IDS IDUA NAGLU
6 liver/biliary system MP:0005370 9.85 CTSA GLA GLB1 HGSNAT HYAL1 IDS
7 limbs/digits/tail MP:0005371 9.8 ARSB CSGALNACT1 HGSNAT IDS IDUA SGSH
8 renal/urinary system MP:0005367 9.7 ARSB CARMIL3 CTSA GALNS GLA GLB1
9 skeleton MP:0005390 9.4 ARSB CFAP161 CSGALNACT1 GALNS GLB1 HGSNAT

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ivb

Search Clinical Trials , NIH Clinical Center for Mucopolysaccharidosis, Type Ivb

Genetic Tests for Mucopolysaccharidosis, Type Ivb

Genetic tests related to Mucopolysaccharidosis, Type Ivb:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Ivb (morquio) 29

Anatomical Context for Mucopolysaccharidosis, Type Ivb

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Ivb:

40
Eye, Heart, Lung, Globus Pallidus, Brain, Skin

Publications for Mucopolysaccharidosis, Type Ivb

Articles related to Mucopolysaccharidosis, Type Ivb:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B. 57 6
11511921 2001
2
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase. 6 57
10841810 2000
3
Clinical and molecular analysis of a Japanese boy with Morquio B disease. 57 6
7586649 1995
4
Human beta-galactosidase gene mutations in morquio B disease. 6 57
1928092 1991
5
A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene. 6 61
22371915 2012
6
Novel beta-galactosidase gene mutation p.W273R in a woman with mucopolysaccharidosis type IVB (Morquio B) and lack of response to in vitro chaperone treatment of her skin fibroblasts. 6 61
18546276 2008
7
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses. 6
31905715 2019
8
Clinical implementation of gene panel testing for lysosomal storage diseases. 6
30548430 2019
9
[Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. 6
30675867 2019
10
Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. 6
30267299 2018
11
Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. 6
30555092 2018
12
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 6
29439846 2018
13
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. 6
28976722 2018
14
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study. 6
29352662 2018
15
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. 6
29451896 2018
16
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. 6
29160035 2018
17
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. 6
28716012 2017
18
Genomic diagnosis for children with intellectual disability and/or developmental delay. 6
28554332 2017
19
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B. 6
27750150 2017
20
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing. 6
27679996 2016
21
MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis. 6
26646981 2016
22
Recurrent and novel GLB1 mutations in India. 6
25936995 2015
23
Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses. 6
25557439 2015
24
Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. 6
25443580 2015
25
Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 6
25600812 2015
26
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. 6
26108645 2015
27
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
28
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
29
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. 6
24777551 2014
30
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders. 6
24767253 2014
31
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 6
23831247 2013
32
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis. 6
23337983 2013
33
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE. 6
23430803 2013
34
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype. 6
23430499 2013
35
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis. 6
23151865 2012
36
Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis. 6
22234367 2012
37
Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients. 6
21214877 2012
38
Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases. 6
22128166 2012
39
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 6
21497194 2011
40
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. 6
21520340 2011
41
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 6
20175788 2010
42
Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. 6
20920281 2010
43
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts. 6
20409738 2010
44
Structural bases of GM1 gangliosidosis and Morquio B disease. 6
19644515 2009
45
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 6
19472408 2009
46
The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient. 6
18571950 2009
47
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. 6
18524657 2008
48
Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. 6
17664528 2007
49
Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America. 6
17309651 2007
50
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 6
17221873 2007

Variations for Mucopolysaccharidosis, Type Ivb

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Ivb:

6 (show top 50) (show all 275)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GLB1 NM_000404.4(GLB1):c.818G>T (p.Trp273Leu) SNV Pathogenic 931 rs72555362 GRCh37: 3:33093471-33093471
GRCh38: 3:33051979-33051979
2 GLB1 NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) SNV Pathogenic 933 rs72555363 GRCh37: 3:33055755-33055755
GRCh38: 3:33014263-33014263
3 GLB1 NM_000404.4(GLB1):c.247T>C (p.Tyr83His) SNV Pathogenic 937 rs72555364 GRCh37: 3:33110461-33110461
GRCh38: 3:33068969-33068969
4 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
5 GLB1 NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) SNV Pathogenic 943 rs72555369 GRCh37: 3:33063068-33063068
GRCh38: 3:33021576-33021576
6 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
7 GLB1 NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) SNV Pathogenic 938 rs72555365 GRCh37: 3:33058236-33058236
GRCh38: 3:33016744-33016744
8 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
9 GLB1 NM_000404.4(GLB1):c.443G>A (p.Arg148His) SNV Pathogenic 522884 rs745864233 GRCh37: 3:33109736-33109736
GRCh38: 3:33068244-33068244
10 GLB1 NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) SNV Pathogenic 528328 rs564428355 GRCh37: 3:33059962-33059962
GRCh38: 3:33018470-33018470
11 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
12 GLB1 NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) SNV Pathogenic 926 rs72555390 GRCh37: 3:33114129-33114129
GRCh38: 3:33072637-33072637
13 GLB1 NM_000404.4(GLB1):c.846del (p.Thr283fs) Deletion Pathogenic 557052 rs1553610382 GRCh37: 3:33093443-33093443
GRCh38: 3:33051951-33051951
14 GLB1 NM_000404.4(GLB1):c.245+1G>A SNV Pathogenic 417873 rs778423653 GRCh37: 3:33114035-33114035
GRCh38: 3:33072543-33072543
15 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Pathogenic 284172 rs376663785 GRCh37: 3:33093481-33093481
GRCh38: 3:33051989-33051989
16 GLB1 NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) Indel Pathogenic 568792 rs1559401428 GRCh37: 3:33093471-33093472
GRCh38: 3:33051979-33051980
17 GLB1 NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) SNV Pathogenic 194596 rs794727165 GRCh37: 3:33038803-33038803
GRCh38: 3:32997311-32997311
18 GLB1 NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) SNV Pathogenic 923 rs72555358 GRCh37: 3:33114136-33114136
GRCh38: 3:33072644-33072644
19 GLB1 NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) SNV Pathogenic 284172 rs376663785 GRCh37: 3:33093481-33093481
GRCh38: 3:33051989-33051989
20 GLB1 NM_000404.4(GLB1):c.1480-2A>G SNV Pathogenic 946 rs587776526 GRCh37: 3:33055804-33055804
GRCh38: 3:33014312-33014312
21 GLB1 NM_000404.4(GLB1):c.553-1G>C SNV Pathogenic 639100 rs1575459735 GRCh37: 3:33099762-33099762
GRCh38: 3:33058270-33058270
22 GLB1 NM_000404.4(GLB1):c.1697C>A (p.Pro566His) SNV Pathogenic 645125 rs1575410340 GRCh37: 3:33055585-33055585
GRCh38: 3:33014093-33014093
23 GLB1 NM_000404.4(GLB1):c.163del (p.Ile55fs) Deletion Pathogenic 657106 rs1575475703 GRCh37: 3:33114118-33114118
GRCh38: 3:33072626-33072626
24 GLB1 NC_000003.12:g.(?_33097001)_(33097095_?)del Deletion Pathogenic 832564 GRCh37: 3:33138493-33138587
GRCh38:
25 GLB1 NM_000404.4(GLB1):c.1445G>A (p.Arg482His) SNV Pathogenic 932 rs72555391 GRCh37: 3:33058235-33058235
GRCh38: 3:33016743-33016743
26 GLB1 NM_000404.4(GLB1):c.1077del (p.Val360fs) Deletion Pathogenic 167146 rs727503952 GRCh37: 3:33065809-33065809
GRCh38: 3:33024317-33024317
27 GLB1 NM_000404.4(GLB1):c.531_534del (p.Gly178fs) Deletion Pathogenic 837229 GRCh37: 3:33106973-33106976
GRCh38: 3:33065481-33065484
28 GLB1 NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) SNV Pathogenic 942 rs72555368 GRCh37: 3:33055784-33055784
GRCh38: 3:33014292-33014292
29 GLB1 NM_000404.4(GLB1):c.1292_1293CT[3] (p.Ser433fs) Microsatellite Pathogenic 842879 GRCh37: 3:33059988-33059989
GRCh38: 3:33018496-33018497
30 GLB1 NM_000404.4(GLB1):c.694dup (p.Ala232fs) Duplication Pathogenic 552535 rs1553611025 GRCh37: 3:33099619-33099620
GRCh38: 3:33058127-33058128
31 GLB1 NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) SNV Pathogenic 551496 rs780724173 GRCh37: 3:33059966-33059966
GRCh38: 3:33018474-33018474
32 GLB1 NM_000404.4(GLB1):c.1480-2A>G SNV Pathogenic 946 rs587776526 GRCh37: 3:33055804-33055804
GRCh38: 3:33014312-33014312
33 GLB1 NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) SNV Pathogenic 496895 rs756878418 GRCh37: 3:33114106-33114106
GRCh38: 3:33072614-33072614
34 GLB1 NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) SNV Pathogenic 924 rs72555359 GRCh37: 3:33058311-33058311
GRCh38: 3:33016819-33016819
35 GLB1 NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) SNV Pathogenic 854615 GRCh37: 3:33093274-33093274
GRCh38: 3:33051782-33051782
36 GLB1 NM_000404.4(GLB1):c.1077del (p.Val360fs) Deletion Pathogenic 167146 rs727503952 GRCh37: 3:33065809-33065809
GRCh38: 3:33024317-33024317
37 GLB1 NM_000404.4(GLB1):c.733+1G>A SNV Pathogenic 553125 rs1041204916 GRCh37: 3:33099580-33099580
GRCh38: 3:33058088-33058088
38 GLB1 NM_000404.4(GLB1):c.495_497del (p.Leu166del) Deletion Pathogenic 684406 rs754077128 GRCh37: 3:33107010-33107012
GRCh38: 3:33065518-33065520
39 GLB1 NM_000404.4(GLB1):c.734-2A>G SNV Pathogenic 946866 GRCh37: 3:33095043-33095043
GRCh38: 3:33053551-33053551
40 GLB1 NM_000404.4(GLB1):c.900_903dup (p.Ser302fs) Duplication Pathogenic 948954 GRCh37: 3:33093385-33093386
GRCh38: 3:33051893-33051894
41 GLB1 NM_000404.4(GLB1):c.1144-2A>G SNV Pathogenic 557226 rs1553607014 GRCh37: 3:33063149-33063149
GRCh38: 3:33021657-33021657
42 GLB1 NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) SNV Pathogenic 553205 rs778700089 GRCh37: 3:33109733-33109733
GRCh38: 3:33068241-33068241
43 GLB1 , TMPPE NM_000404.4(GLB1):c.75+2dup Duplication Pathogenic 936 rs587776525 GRCh37: 3:33138500-33138501
GRCh38: 3:33097008-33097009
44 GLB1 , TMPPE NM_000404.4(GLB1):c.75+2dup Duplication Pathogenic 936 rs587776525 GRCh37: 3:33138500-33138501
GRCh38: 3:33097008-33097009
45 GLB1 NM_000404.4(GLB1):c.841C>T (p.His281Tyr) SNV Pathogenic 372371 rs745386663 GRCh37: 3:33093448-33093448
GRCh38: 3:33051956-33051956
46 GLB1 NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) SNV Pathogenic 426185 rs776327443 GRCh37: 3:33055636-33055636
GRCh38: 3:33014144-33014144
47 GLB1 NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) SNV Pathogenic 925 rs72555360 GRCh37: 3:33099713-33099713
GRCh38: 3:33058221-33058221
48 GLB1 NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) SNV Pathogenic 928 rs28934274 GRCh37: 3:33110341-33110341
GRCh38: 3:33068849-33068849
49 GLB1 NM_000404.4(GLB1):c.902C>T (p.Ala301Val) SNV Pathogenic 381567 rs750531880 GRCh37: 3:33093387-33093387
GRCh38: 3:33051895-33051895
50 GLB1 NM_000404.4(GLB1):c.245C>T (p.Thr82Met) SNV Pathogenic 935 rs72555393 GRCh37: 3:33114036-33114036
GRCh38: 3:33072544-33072544

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

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 GLB1 p.Trp273Leu VAR_003333 rs72555362
2 GLB1 p.Arg482His VAR_003336 rs72555391
3 GLB1 p.Trp509Cys VAR_003337 rs72555363
4 GLB1 p.Tyr83His VAR_008674 rs72555364
5 GLB1 p.Arg482Cys VAR_008678 rs72555365
6 GLB1 p.Gln408Pro VAR_013550 rs72555369
7 GLB1 p.Gly438Glu VAR_013551 rs72555367
8 GLB1 p.Asn484Lys VAR_013552 rs968221254
9 GLB1 p.Thr500Ala VAR_013554 rs72555368
10 GLB1 p.Tyr83Cys VAR_062343 rs155361222
11 GLB1 p.Ser149Phe VAR_062347 rs778700089
12 GLB1 p.Asp198Tyr VAR_062352
13 GLB1 p.Pro397Ala VAR_062362
14 GLB1 p.Tyr444Cys VAR_062368
15 GLB1 p.Gly494Ser VAR_062369

Expression for Mucopolysaccharidosis, Type Ivb

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

Pathways for Mucopolysaccharidosis, Type Ivb

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 SUMF1 SGSH RPS12 NAGLU IDUA IDS
2
Show member pathways
12.66 SGSH NAGLU IDUA IDS HYAL1 GNS
3
Show member pathways
12.27 SGSH NAGLU IDUA IDS HYAL1 GLB1
4
Show member pathways
12.17 SUMF1 GLB1 GLA CTSA ARSB
5 11.54 SUMF1 SGSH NAGLU IDUA IDS HYAL1
6
Show member pathways
10.96 SGSH NAGLU IDUA IDS HYAL1 HGSNAT

GO Terms for Mucopolysaccharidosis, Type Ivb

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10 SGSH NAGLU IDUA HYAL1 GNS GLB1
2 lysosomal lumen GO:0043202 9.7 SGSH NAGLU IDUA IDS HYAL1 GNS
3 azurophil granule lumen GO:0035578 9.63 GNS GLB1 GLA GALNS CTSA ARSB
4 ficolin-1-rich granule lumen GO:1904813 9.5 GNS GLB1 ARSB
5 lysosome GO:0005764 9.4 SGSH NAGLU IDUA IDS HYAL1 HGSNAT
6 vacuole GO:0005773 9.37 GLB1L3 GLB1

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.87 HGSNAT GNS GLB1 GLA GALNS CTSA
2 carbohydrate metabolic process GO:0005975 9.8 IDUA HYAL1 GLB1L3 GLB1 GLA
3 metabolic process GO:0008152 9.63 NAGLU IDUA HYAL1 GLB1L3 GLB1 GLA
4 glycosphingolipid metabolic process GO:0006687 9.56 SUMF1 GLB1 GLA CTSA
5 keratan sulfate catabolic process GO:0042340 9.54 GNS GLB1 GALNS
6 lysosomal transport GO:0007041 9.46 HGSNAT ARSB
7 glycosaminoglycan metabolic process GO:0030203 9.43 SGSH GNS
8 chondroitin sulfate catabolic process GO:0030207 9.26 IDUA IDS HYAL1 ARSB
9 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS HGSNAT GNS

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.86 SGSH IDS HYAL1 GNS GLA GALNS
2 hydrolase activity GO:0016787 9.77 TMPPE SGSH NAGLU IDUA IDS HYAL1
3 hydrolase activity, acting on glycosyl bonds GO:0016798 9.63 NAGLU IDUA HYAL1 GLB1L3 GLB1 GLA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.62 IDUA GLB1L3 GLB1 GLA
5 glycosaminoglycan binding GO:0005539 9.49 SGSH GNS
6 arylsulfatase activity GO:0004065 9.48 GALNS ARSB
7 galactoside binding GO:0016936 9.46 GLB1 GLA
8 beta-galactosidase activity GO:0004565 9.43 GLB1L3 GLB1
9 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.4 SGSH GNS
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 GALNS ARSB
11 sulfuric ester hydrolase activity GO:0008484 9.02 SGSH IDS GNS GALNS ARSB

Sources for Mucopolysaccharidosis, Type Ivb

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