MPS4B
MCID: MCP023
MIFTS: 27

Mucopolysaccharidosis Type Ivb (MPS4B) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Oral diseases, Skin diseases

Aliases & Classifications for Mucopolysaccharidosis Type Ivb

Aliases & Descriptions for Mucopolysaccharidosis Type Ivb:

Name: Mucopolysaccharidosis Type Ivb 54 50 24 56 66 13 69
Morquio Syndrome B 50 24 66
Mps Ivb 50 24 66
Mps4b 24 56 66
Beta-D-Galactosidase Deficiency 56
Mucopolysaccharidosis Type 4b 56
Mucopolysaccharidosis 4b 66
Morquio Disease Type B 56
Morquio's Syndrome B 66
Morquio B Disease 24
Mps-Ivb 66
Mps 4b 50
Mpsivb 56

Characteristics:

Orphanet epidemiological data:

56
mucopolysaccharidosis type 4b
Inheritance: Autosomal recessive;

HPO:

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


Classifications:



External Ids:

OMIM 54 253010
Orphanet 56 ORPHA309310
UMLS via Orphanet 70 C0086652
ICD10 via Orphanet 34 E76.2
MedGen 40 C0086652
MeSH 42 D009085

Summaries for Mucopolysaccharidosis Type Ivb

UniProtKB/Swiss-Prot : 66 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 morquio syndrome b, is related to mucopolysaccharidosis iv and gm1-gangliosidosis, type i, and has symptoms including joint laxity, ulnar deviation of the wrist and genu valgum. An important gene associated with Mucopolysaccharidosis Type Ivb is GLB1 (Galactosidase Beta 1). Affiliated tissues include bone, eye and skin.

OMIM : 54 Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal... (253010) more...

Related Diseases for Mucopolysaccharidosis Type Ivb

Symptoms & Phenotypes for Mucopolysaccharidosis Type Ivb

Symptoms by clinical synopsis from OMIM:

253010

Clinical features from OMIM:

253010

Human phenotypes related to Mucopolysaccharidosis Type Ivb:

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

UMLS symptoms related to Mucopolysaccharidosis Type Ivb:


joint laxity, ulnar deviation of the wrist

Drugs & Therapeutics for Mucopolysaccharidosis Type Ivb

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069

Search NIH Clinical Center for Mucopolysaccharidosis Type Ivb

Genetic Tests for Mucopolysaccharidosis Type Ivb

Genetic tests related to Mucopolysaccharidosis Type Ivb:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Ivb 24 GLB1

Anatomical Context for Mucopolysaccharidosis Type Ivb

MalaCards organs/tissues related to Mucopolysaccharidosis Type Ivb:

39
Bone, Eye, Skin

Publications for Mucopolysaccharidosis Type Ivb

Articles related to Mucopolysaccharidosis Type Ivb:

id Title Authors Year
1
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. ( 18546276 )
2008

Variations for Mucopolysaccharidosis Type Ivb

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

66 (show all 15)
id Symbol AA change Variation ID SNP ID
1 GLB1 p.Trp273Leu VAR_003333
2 GLB1 p.Arg482His VAR_003336
3 GLB1 p.Trp509Cys VAR_003337
4 GLB1 p.Tyr83His VAR_008674
5 GLB1 p.Arg482Cys VAR_008678
6 GLB1 p.Gln408Pro VAR_013550
7 GLB1 p.Gly438Glu VAR_013551
8 GLB1 p.Asn484Lys VAR_013552
9 GLB1 p.Thr500Ala VAR_013554
10 GLB1 p.Tyr83Cys VAR_062343
11 GLB1 p.Ser149Phe VAR_062347
12 GLB1 p.Asp198Tyr VAR_062352
13 GLB1 p.Pro397Ala VAR_062362
14 GLB1 p.Tyr444Cys VAR_062368
15 GLB1 p.Gly494Ser VAR_062369

ClinVar genetic disease variations for Mucopolysaccharidosis Type Ivb:

6 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.818G> T (p.Trp273Leu) single nucleotide variant Pathogenic rs72555362 GRCh37 Chromosome 3, 33093471: 33093471
2 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
3 GLB1 NM_000404.3(GLB1): c.1527G> T (p.Trp509Cys) single nucleotide variant Pathogenic rs72555363 GRCh37 Chromosome 3, 33055755: 33055755
4 GLB1 NM_000404.3(GLB1): c.247T> C (p.Tyr83His) single nucleotide variant Pathogenic rs72555364 GRCh37 Chromosome 3, 33110461: 33110461
5 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Pathogenic rs72555365 GRCh37 Chromosome 3, 33058236: 33058236
6 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
7 GLB1 NM_000404.3(GLB1): c.1313G> A (p.Gly438Glu) single nucleotide variant Pathogenic rs72555367 GRCh37 Chromosome 3, 33059974: 33059974
8 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Pathogenic rs72555368 GRCh37 Chromosome 3, 33055784: 33055784
9 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Pathogenic rs72555369 GRCh37 Chromosome 3, 33063068: 33063068
10 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
11 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
12 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
13 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
14 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
15 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
16 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
17 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
18 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
19 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
20 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
21 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
22 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896
23 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh37 Chromosome 3, 33065809: 33065809
24 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
25 GLB1 NM_000404.3(GLB1): c.602G> A (p.Arg201His) single nucleotide variant Pathogenic rs189115557 GRCh37 Chromosome 3, 33099712: 33099712
26 GLB1 NM_000404.3(GLB1): c.808T> G (p.Tyr270Asp) single nucleotide variant Pathogenic rs376663785 GRCh37 Chromosome 3, 33093481: 33093481
27 GLB1 NM_000404.3(GLB1): c.245+1G> A single nucleotide variant Likely pathogenic rs778423653 GRCh37 Chromosome 3, 33114035: 33114035

Expression for Mucopolysaccharidosis Type Ivb

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

Pathways for Mucopolysaccharidosis Type Ivb

GO Terms for Mucopolysaccharidosis Type Ivb

Sources for Mucopolysaccharidosis Type Ivb

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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35 ICD9CM
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37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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