MCID: MCP023
MIFTS: 31

Mucopolysaccharidosis Type Ivb malady

Genetic diseases, Rare diseases, Metabolic diseases, Bone diseases, Neuronal diseases, Eye diseases, Fetal diseases, Skin diseases categories

Aliases & Classifications for Mucopolysaccharidosis Type Ivb

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
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Aliases & Descriptions for Mucopolysaccharidosis Type Ivb:

Name: Mucopolysaccharidosis Type Ivb 49 11 45 22 51 65 67
Morquio Syndrome B 45 22 67
Mps Ivb 45 22 67
Mps4b 22 67
Disorder of Sialic Acid Metabolism 65
Beta-D-Galactosidase Deficiency 51
Mucopolysaccharidosis Type 4b 51
 
Mucopolysaccharidosis 4b 67
Morquio Disease Type B 51
Morquio's Syndrome B 67
Mps-Ivb 67
Mpsivb 51
Mps 4b 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive


External Ids:

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

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 mucopolysaccharidosis, and has symptoms including autosomal recessive inheritance, inguinal hernia and wide mouth. An important gene associated with Mucopolysaccharidosis Type Ivb is GLB1 (Galactosidase, Beta 1). Affiliated tissues include bone, skin and lung.

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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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 38)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 inguinal hernia HP:0000023
3 wide mouth HP:0000154
4 coarse facial features HP:0000280
5 mandibular prognathia HP:0000303
6 hearing impairment HP:0000365
7 carious teeth HP:0000670
8 grayish enamel HP:0000683
9 widely spaced teeth HP:0000687
10 prominent sternum HP:0000884
11 flaring of rib cage HP:0000904
12 platyspondyly HP:0000926
13 osteoporosis HP:0000939
14 pointed proximal second through fifth metacarpals HP:0001223
15 joint laxity HP:0001388
16 aortic valve stenosis HP:0001650
17 restrictive lung disease HP:0002091
18 hepatomegaly HP:0002240
19 cervical myelopathy HP:0002318
20 scoliosis HP:0002650
21 coxa valga HP:0002673
22 recurrent upper respiratory tract infections HP:0002788
23 kyphosis HP:0002808
24 genu valgum HP:0002857
25 metaphyseal widening HP:0003016
26 ulnar deviation of the wrist HP:0003049
27 epiphyseal deformities of tubular bones HP:0003053
28 constricted iliac wings HP:0003277
29 ovoid vertebral bodies HP:0003300
30 hyperlordosis HP:0003307
31 cervical subluxation HP:0003308
32 hypoplasia of the odontoid process HP:0003311
33 disproportionate short-trunk short stature HP:0003521
34 juvenile onset HP:0003621
35 intimal thickening in the coronary arteries HP:0005292
36 opacification of the corneal stroma HP:0007759
37 decreased beta-galactosidase activity HP:0008166
38 keratan sulfate excretion in urine HP:0012069

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, Skin, Lung, Eye

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:

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_000404.2(GLB1): c.1077delA (p.Val360Tyrfs)deletionPathogenicrs727503952GRCh37Chr 3, 33065809: 33065809
2GLB1NM_000404.2(GLB1): c.901G> A (p.Ala301Thr)single nucleotide variantLikely pathogenicrs727503954GRCh37Chr 3, 33093388: 33093388
3GLB1NM_000404.2(GLB1): c.1466_1467insGGTGCATATAT (p.Ile489Metfs)insertionPathogenicrs398123349GRCh37Chr 3, 33058213: 33058214
4GLB1NM_000404.2(GLB1): c.1768C> T (p.Arg590Cys)single nucleotide variantPathogenicrs794727165GRCh37Chr 3, 33038803: 33038803
5GLB1NM_000404.2(GLB1): c.602G> A (p.Arg201His)single nucleotide variantPathogenicrs189115557GRCh37Chr 3, 33099712: 33099712
6GLB1NM_000404.2(GLB1): c.1285C> T (p.Pro429Ser)single nucleotide variantLikely pathogenicrs180869784GRCh38Chr 3, 33018510: 33018510
7GLB1NM_000404.2(GLB1): c.1004C> T (p.Ala335Val)single nucleotide variantLikely pathogenicrs398123347GRCh37Chr 3, 33087676: 33087676
8GLB1NM_000404.2(GLB1): c.1174_1175delCT (p.Leu392Valfs)deletionPathogenicrs398123348GRCh37Chr 3, 33063116: 33063117
9GLB1NM_000404.2(GLB1): c.1310A> T (p.Asn437Ile)single nucleotide variantLikely pathogenicrs202237232GRCh37Chr 3, 33059977: 33059977
10GLB1NM_000404.2(GLB1): c.171C> G (p.Tyr57Ter)single nucleotide variantPathogenicrs398123350GRCh37Chr 3, 33114110: 33114110
11GLB1NM_000404.2(GLB1): c.1769G> A (p.Arg590His)single nucleotide variantPathogenicrs398123351GRCh37Chr 3, 33038802: 33038802
12GLB1NM_000404.2(GLB1): c.397-1G> Asingle nucleotide variantPathogenicrs398123353GRCh37Chr 3, 33109783: 33109783
13GLB1NM_000404.2(GLB1): c.442C> T (p.Arg148Cys)single nucleotide variantPathogenicrs192732174GRCh37Chr 3, 33109737: 33109737
14GLB1NM_000404.2(GLB1): c.457+2T> Csingle nucleotide variantPathogenicrs398123354GRCh37Chr 3, 33109720: 33109720
15GLB1NM_000404.2(GLB1): c.51dupT (p.Leu18Serfs)duplicationPathogenicrs398123356GRCh37Chr 3, 33138527: 33138527
16GLB1NM_000404.2(GLB1): c.75+1G> Csingle nucleotide variantPathogenicrs398123358GRCh37Chr 3, 33138502: 33138502
17GLB1NM_000404.2(GLB1): c.818G> T (p.Trp273Leu)single nucleotide variantPathogenicrs72555362GRCh37Chr 3, 33093471: 33093471
18GLB1NM_000404.2(GLB1): c.1445G> A (p.Arg482His)single nucleotide variantPathogenicrs72555391GRCh37Chr 3, 33058235: 33058235
19GLB1NM_000404.2(GLB1): c.1527G> T (p.Trp509Cys)single nucleotide variantPathogenicrs72555363GRCh37Chr 3, 33055755: 33055755
20GLB1NM_000404.2(GLB1): c.247T> C (p.Tyr83His)single nucleotide variantPathogenicrs72555364GRCh37Chr 3, 33110461: 33110461
21GLB1NM_000404.2(GLB1): c.1444C> T (p.Arg482Cys)single nucleotide variantPathogenicrs72555365GRCh37Chr 3, 33058236: 33058236
22GLB1NM_000404.2(GLB1): c.622C> T (p.Arg208Cys)single nucleotide variantPathogenicrs72555366GRCh37Chr 3, 33099692: 33099692
23GLB1NM_000404.2(GLB1): c.1313G> A (p.Gly438Glu)single nucleotide variantPathogenicrs72555367GRCh37Chr 3, 33059974: 33059974
24GLB1NM_000404.2(GLB1): c.1498A> G (p.Thr500Ala)single nucleotide variantPathogenicrs72555368GRCh37Chr 3, 33055784: 33055784
25GLB1NM_000404.2(GLB1): c.1223A> C (p.Gln408Pro)single nucleotide variantPathogenicrs72555369GRCh37Chr 3, 33063068: 33063068
26GLB1NM_000404.2(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