MCID: MCP023
MIFTS: 28

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:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 47Orphanet, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Mucopolysaccharidosis Type Ivb, Aliases & Descriptions:

Name: Mucopolysaccharidosis Type Ivb 45 10 41 20 47 60
Disorder of Sialic Acid Metabolism 41 60
Beta-D-Galactosidase Deficiency 47
Mucopolysaccharidosis Type 4b 47
Morquio Disease Type B 47
 
Morquio Syndrome B 41
Mps Ivb 41
Mpsivb 47
Mps 4b 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive


External Ids:

OMIM45 253010
Orphanet47 309310
ICD10 via Orphanet26 E76.2
UMLS via Orphanet61 C0086652

Summaries for Mucopolysaccharidosis Type Ivb

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OMIM:45 Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal... (253010) more...

MalaCards based summary: Mucopolysaccharidosis Type Ivb, also known as disorder of sialic acid metabolism, 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, lung and skin.

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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Drug clinical trials:

Search ClinicalTrials for Mucopolysaccharidosis Type Ivb

Search 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 Ivb20 GLB1

Anatomical Context for Mucopolysaccharidosis Type Ivb

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Ivb:

31
Bone, Lung, 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:

62 (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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GLB1NM_000404.2(GLB1): c.818G> T (p.Trp273Leu)single nucleotide variantPathogenicrs72555362GRCh37Chr 3, 33093471: 33093471
2GLB1NM_000404.2(GLB1): c.1445G> A (p.Arg482His)single nucleotide variantPathogenicrs72555391GRCh37Chr 3, 33058235: 33058235
3GLB1NM_000404.2(GLB1): c.1527G> T (p.Trp509Cys)single nucleotide variantPathogenicrs72555363GRCh37Chr 3, 33055755: 33055755
4GLB1NM_000404.2(GLB1): c.247T> C (p.Tyr83His)single nucleotide variantPathogenicrs72555364GRCh37Chr 3, 33110461: 33110461
5GLB1NM_000404.2(GLB1): c.1444C> T (p.Arg482Cys)single nucleotide variantPathogenicrs72555365GRCh37Chr 3, 33058236: 33058236
6GLB1NM_000404.2(GLB1): c.1313G> A (p.Gly438Glu)single nucleotide variantPathogenicrs72555367GRCh37Chr 3, 33059974: 33059974
7GLB1NM_000404.2(GLB1): c.1498A> G (p.Thr500Ala)single nucleotide variantPathogenicrs72555368GRCh37Chr 3, 33055784: 33055784
8GLB1NM_000404.2(GLB1): c.1223A> C (p.Gln408Pro)single nucleotide variantPathogenicrs72555369GRCh37Chr 3, 33063068: 33063068

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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Compounds for genes affiliated with Mucopolysaccharidosis Type Ivb

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GO Terms for genes affiliated with Mucopolysaccharidosis Type Ivb

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Products for genes affiliated with Mucopolysaccharidosis Type Ivb

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mucopolysaccharidosis Type Ivb

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet