MCID: MCP023
MIFTS: 30

Mucopolysaccharidosis Type Ivb malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Bone diseases, Neuronal diseases, Eye diseases, Fetal 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 49 11 45 22 51 67 65
Morquio Syndrome B 45 22 67
Mps Ivb 45 22 67
Mps4b 22 51 67
Beta-D-Galactosidase Deficiency 51
Mucopolysaccharidosis Type 4b 51
Mucopolysaccharidosis 4b 67
 
Morquio Disease Type B 51
Morquio's Syndrome B 67
Morquio B Disease 22
Mps-Ivb 67
Mpsivb 51
Mps 4b 45

Characteristics:

Orphanet epidemiological data:

51
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive

HPO:

61
mucopolysaccharidosis type ivb:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 253010
Orphanet51 309310
ICD10 via Orphanet28 E76.2
UMLS via Orphanet66 C0086652
MedGen34 C0086652
MeSH36 D009085
UMLS65 C0086652

Summaries for Mucopolysaccharidosis Type Ivb

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UniProtKB/Swiss-Prot:67 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 keratan sulfate excretion in urine, decreased beta-galactosidase activity and opacification of the corneal stroma. An important gene associated with Mucopolysaccharidosis Type Ivb is GLB1 (Galactosidase Beta 1). Affiliated tissues include bone, lung and liver.

OMIM:49 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 keratan sulfate excretion in urine HP:0012069
2 decreased beta-galactosidase activity HP:0008166
3 opacification of the corneal stroma HP:0007759
4 intimal thickening in the coronary arteries HP:0005292
5 disproportionate short-trunk short stature HP:0003521
6 hypoplasia of the odontoid process HP:0003311
7 cervical subluxation HP:0003308
8 hyperlordosis HP:0003307
9 ovoid vertebral bodies HP:0003300
10 constricted iliac wings HP:0003277
11 epiphyseal deformities of tubular bones HP:0003053
12 ulnar deviation of the wrist HP:0003049
13 metaphyseal widening HP:0003016
14 genu valgum HP:0002857
15 kyphosis HP:0002808
16 recurrent upper respiratory tract infections HP:0002788
17 coxa valga HP:0002673
18 scoliosis HP:0002650
19 cervical myelopathy HP:0002318
20 hepatomegaly HP:0002240
21 restrictive lung disease HP:0002091
22 aortic valve stenosis HP:0001650
23 joint laxity HP:0001388
24 pointed proximal second through fifth metacarpals HP:0001223
25 osteoporosis HP:0000939
26 platyspondyly HP:0000926
27 flaring of rib cage HP:0000904
28 prominent sternum HP:0000884
29 widely spaced teeth HP:0000687
30 grayish enamel HP:0000683
31 carious teeth HP:0000670
32 hearing impairment HP:0000365
33 mandibular prognathia HP:0000303
34 coarse facial features HP:0000280
35 wide mouth HP:0000154
36 inguinal hernia HP:0000023

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 Ivb22 GLB1

Anatomical Context for Mucopolysaccharidosis Type Ivb

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Ivb:

33
Bone, Lung, Liver, Eye, 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
Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein. (8304107)
1993

Variations for Mucopolysaccharidosis Type Ivb

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

67 (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 26)
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 pathogenicrs727503954GRCh37Chr 3, 33093388: 33093388
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.1285C> T (p.Pro429Ser)single nucleotide variantLikely pathogenicrs180869784GRCh38Chr 3, 33018510: 33018510
6GLB1NM_000404.3(GLB1): c.1004C> T (p.Ala335Val)single nucleotide variantLikely pathogenicrs398123347GRCh37Chr 3, 33087676: 33087676
7GLB1NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs)deletionPathogenicrs398123348GRCh37Chr 3, 33063116: 33063117
8GLB1NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile)single nucleotide variantLikely pathogenicrs202237232GRCh37Chr 3, 33059977: 33059977
9GLB1NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs)duplicationPathogenicrs398123349GRCh37Chr 3, 33058214: 33058224
10GLB1NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter)single nucleotide variantPathogenicrs398123350GRCh37Chr 3, 33114110: 33114110
11GLB1NM_000404.3(GLB1): c.1769G> A (p.Arg590His)single nucleotide variantPathogenicrs398123351GRCh37Chr 3, 33038802: 33038802
12GLB1NM_000404.3(GLB1): c.397-1G> Asingle nucleotide variantPathogenicrs398123353GRCh37Chr 3, 33109783: 33109783
13GLB1NM_000404.3(GLB1): c.442C> T (p.Arg148Cys)single nucleotide variantPathogenicrs192732174GRCh37Chr 3, 33109737: 33109737
14GLB1NM_000404.3(GLB1): c.457+2T> Csingle nucleotide variantPathogenicrs398123354GRCh37Chr 3, 33109720: 33109720
15GLB1NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs)duplicationPathogenicrs398123356GRCh37Chr 3, 33138527: 33138527
16GLB1NM_000404.3(GLB1): c.75+1G> Csingle nucleotide variantPathogenicrs398123358GRCh37Chr 3, 33138502: 33138502
17GLB1NM_000404.3(GLB1): c.818G> T (p.Trp273Leu)single nucleotide variantPathogenicrs72555362GRCh37Chr 3, 33093471: 33093471
18GLB1NM_000404.3(GLB1): c.1445G> A (p.Arg482His)single nucleotide variantPathogenicrs72555391GRCh37Chr 3, 33058235: 33058235
19GLB1NM_000404.3(GLB1): c.1527G> T (p.Trp509Cys)single nucleotide variantPathogenicrs72555363GRCh37Chr 3, 33055755: 33055755
20GLB1NM_000404.3(GLB1): c.247T> C (p.Tyr83His)single nucleotide variantPathogenicrs72555364GRCh37Chr 3, 33110461: 33110461
21GLB1NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys)single nucleotide variantPathogenicrs72555365GRCh37Chr 3, 33058236: 33058236
22GLB1NM_000404.3(GLB1): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs72555366GRCh37Chr 3, 33099692: 33099692
23GLB1NM_000404.3(GLB1): c.1313G> A (p.Gly438Glu)single nucleotide variantPathogenicrs72555367GRCh37Chr 3, 33059974: 33059974
24GLB1NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala)single nucleotide variantPathogenicrs72555368GRCh37Chr 3, 33055784: 33055784
25GLB1NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro)single nucleotide variantPathogenicrs72555369GRCh37Chr 3, 33063068: 33063068
26GLB1NM_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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet