MCID: MCP023
MIFTS: 28

Mucopolysaccharidosis Type Ivb malady

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

Aliases & Classifications for Mucopolysaccharidosis Type Ivb

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Aliases & Descriptions for Mucopolysaccharidosis Type Ivb:

Name: Mucopolysaccharidosis Type Ivb 50 46 23 52 68 12 66
Morquio Syndrome B 46 23 68
Mps Ivb 46 23 68
Mps4b 23 52 68
Beta-D-Galactosidase Deficiency 52
Mucopolysaccharidosis Type 4b 52
Mucopolysaccharidosis 4b 68
 
Morquio Disease Type B 52
Morquio's Syndrome B 68
Morquio B Disease 23
Mps-Ivb 68
Mpsivb 52
Mps 4b 46

Characteristics:

Orphanet epidemiological data:

52
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive

HPO:

62
mucopolysaccharidosis type ivb:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 253010
Orphanet52 ORPHA309310
ICD10 via Orphanet29 E76.2
UMLS via Orphanet67 C0086652
MedGen35 C0086652
MeSH37 D009085

Summaries for Mucopolysaccharidosis Type Ivb

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UniProtKB/Swiss-Prot:68 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 gangliosidosis, and has symptoms including joint laxity, ulnar deviation of the wrist and inguinal hernia. An important gene associated with Mucopolysaccharidosis Type Ivb is GLB1 (Galactosidase Beta 1). Affiliated tissues include eye, bone and skin.

OMIM:50 Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal... (253010) more...

Related Diseases for Mucopolysaccharidosis Type Ivb

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Graphical network of diseases related to Mucopolysaccharidosis Type Ivb:



Diseases related to mucopolysaccharidosis type ivb

Symptoms for Mucopolysaccharidosis Type Ivb

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Symptoms by clinical synopsis from OMIM:

253010

Clinical features from OMIM:

253010

HPO human phenotypes related to Mucopolysaccharidosis Type Ivb:

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

UMLS symptoms related to Mucopolysaccharidosis Type Ivb:


joint laxity, ulnar deviation of the wrist

Drugs & Therapeutics for Mucopolysaccharidosis Type Ivb

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mucopolysaccharidosis Type Ivb

Genetic Tests for Mucopolysaccharidosis Type Ivb

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Genetic tests related to Mucopolysaccharidosis Type Ivb:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Ivb23 GLB1

Anatomical Context for Mucopolysaccharidosis Type Ivb

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Ivb:

34
Eye, Bone, Skin

Animal Models for Mucopolysaccharidosis Type Ivb or affiliated genes

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Publications for Mucopolysaccharidosis Type Ivb

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Articles related to Mucopolysaccharidosis Type Ivb:

idTitleAuthorsYear
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

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

68 (show all 15)
id Symbol AA change Variation ID SNP ID
1GLB1p.Trp273LeuVAR_003333
2GLB1p.Arg482HisVAR_003336
3GLB1p.Trp509CysVAR_003337
4GLB1p.Tyr83HisVAR_008674
5GLB1p.Arg482CysVAR_008678
6GLB1p.Gln408ProVAR_013550
7GLB1p.Gly438GluVAR_013551
8GLB1p.Asn484LysVAR_013552
9GLB1p.Thr500AlaVAR_013554
10GLB1p.Tyr83CysVAR_062343
11GLB1p.Ser149PheVAR_062347
12GLB1p.Asp198TyrVAR_062352
13GLB1p.Pro397AlaVAR_062362
14GLB1p.Tyr444CysVAR_062368
15GLB1p.Gly494SerVAR_062369

Clinvar genetic disease variations for Mucopolysaccharidosis Type Ivb:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1GLB1NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs)deletionPathogenicrs727503952GRCh37Chr 3, 33065809: 33065809
2GLB1NM_000404.3(GLB1): c.901G> A (p.Ala301Thr)single nucleotide variantLikely pathogenicrs727503954GRCh38Chr 3, 33051896: 33051896
3GLB1NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys)single nucleotide variantPathogenicrs794727165GRCh37Chr 3, 33038803: 33038803
4GLB1NM_000404.3(GLB1): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs189115557GRCh37Chr 3, 33099712: 33099712
5GLB1NM_000404.3(GLB1): c.1004C> T (p.Ala335Val)single nucleotide variantLikely pathogenicrs398123347GRCh37Chr 3, 33087676: 33087676
6GLB1NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs)deletionPathogenicrs398123348GRCh37Chr 3, 33063116: 33063117
7GLB1NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile)single nucleotide variantLikely pathogenicrs202237232GRCh37Chr 3, 33059977: 33059977
8GLB1NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs)duplicationPathogenicrs398123349GRCh37Chr 3, 33058214: 33058224
9GLB1NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter)single nucleotide variantPathogenicrs398123350GRCh37Chr 3, 33114110: 33114110
10GLB1NM_000404.3(GLB1): c.1769G> A (p.Arg590His)single nucleotide variantPathogenicrs398123351GRCh37Chr 3, 33038802: 33038802
11GLB1NM_000404.3(GLB1): c.397-1G> Asingle nucleotide variantPathogenicrs398123353GRCh37Chr 3, 33109783: 33109783
12GLB1NM_000404.3(GLB1): c.442C> T (p.Arg148Cys)single nucleotide variantPathogenicrs192732174GRCh37Chr 3, 33109737: 33109737
13GLB1NM_000404.3(GLB1): c.457+2T> Csingle nucleotide variantPathogenicrs398123354GRCh37Chr 3, 33109720: 33109720
14GLB1NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs)duplicationPathogenicrs398123356GRCh37Chr 3, 33138527: 33138527
15GLB1NM_000404.3(GLB1): c.75+1G> Csingle nucleotide variantPathogenicrs398123358GRCh37Chr 3, 33138502: 33138502
16GLB1NM_000404.3(GLB1): c.818G> T (p.Trp273Leu)single nucleotide variantPathogenicrs72555362GRCh37Chr 3, 33093471: 33093471
17GLB1NM_000404.3(GLB1): c.1445G> A (p.Arg482His)single nucleotide variantPathogenicrs72555391GRCh37Chr 3, 33058235: 33058235
18GLB1NM_000404.3(GLB1): c.1527G> T (p.Trp509Cys)single nucleotide variantPathogenicrs72555363GRCh37Chr 3, 33055755: 33055755
19GLB1NM_000404.3(GLB1): c.247T> C (p.Tyr83His)single nucleotide variantPathogenicrs72555364GRCh37Chr 3, 33110461: 33110461
20GLB1NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys)single nucleotide variantPathogenicrs72555365GRCh37Chr 3, 33058236: 33058236
21GLB1NM_000404.3(GLB1): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs72555366GRCh37Chr 3, 33099692: 33099692
22GLB1NM_000404.3(GLB1): c.1313G> A (p.Gly438Glu)single nucleotide variantPathogenicrs72555367GRCh37Chr 3, 33059974: 33059974
23GLB1NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala)single nucleotide variantPathogenicrs72555368GRCh37Chr 3, 33055784: 33055784
24GLB1NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro)single nucleotide variantPathogenicrs72555369GRCh37Chr 3, 33063068: 33063068
25GLB1NM_000404.3(GLB1): c.176G> A (p.Arg59His)single nucleotide variantPathogenicrs72555392GRCh37Chr 3, 33114105: 33114105

Expression for genes affiliated with Mucopolysaccharidosis Type Ivb

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

Pathways for genes affiliated with Mucopolysaccharidosis Type Ivb

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GO Terms for genes affiliated with Mucopolysaccharidosis Type Ivb

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Sources for Mucopolysaccharidosis Type Ivb

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet