MCID: MCP023
MIFTS: 27

Mucopolysaccharidosis Type Ivb 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

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Aliases & Descriptions for Mucopolysaccharidosis Type Ivb:

Name: Mucopolysaccharidosis Type Ivb 51 47 24 53 69 12 67
Morquio Syndrome B 47 24 69
Mps Ivb 47 24 69
Mps4b 24 53 69
Beta-D-Galactosidase Deficiency 53
Mucopolysaccharidosis Type 4b 53
Mucopolysaccharidosis 4b 69
 
Morquio Disease Type B 53
Morquio's Syndrome B 69
Morquio B Disease 24
Mps-Ivb 69
Mpsivb 53
Mps 4b 47

Characteristics:

Orphanet epidemiological data:

53
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive

HPO:

63
mucopolysaccharidosis type ivb:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM51 253010
Orphanet53 ORPHA309310
UMLS via Orphanet68 C0086652
ICD10 via Orphanet30 E76.2
MedGen36 C0086652
MeSH38 D009085

Summaries for Mucopolysaccharidosis Type Ivb

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UniProtKB/Swiss-Prot:69 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 inguinal hernia, wide mouth and coarse facial features. An important gene associated with Mucopolysaccharidosis Type Ivb is GLB1 (Galactosidase Beta 1). Affiliated tissues include bone, eye and skin.

OMIM:51 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

Human phenotypes related to Mucopolysaccharidosis Type Ivb:

 63 (show all 36)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia63 HP:0000023
2 wide mouth63 HP:0000154
3 coarse facial features63 HP:0000280
4 mandibular prognathia63 HP:0000303
5 hearing impairment63 HP:0000365
6 carious teeth63 HP:0000670
7 grayish enamel63 HP:0000683
8 widely spaced teeth63 HP:0000687
9 prominent sternum63 HP:0000884
10 flaring of rib cage63 HP:0000904
11 platyspondyly63 HP:0000926
12 osteoporosis63 HP:0000939
13 pointed proximal second through fifth metacarpals63 HP:0001223
14 joint laxity63 HP:0001388
15 aortic valve stenosis63 HP:0001650
16 restrictive ventilatory defect63 HP:0002091
17 hepatomegaly63 HP:0002240
18 cervical myelopathy63 HP:0002318
19 scoliosis63 HP:0002650
20 coxa valga63 HP:0002673
21 recurrent upper respiratory tract infections63 HP:0002788
22 kyphosis63 HP:0002808
23 genu valgum63 HP:0002857
24 metaphyseal widening63 HP:0003016
25 ulnar deviation of the wrist63 HP:0003049
26 epiphyseal deformities of tubular bones63 HP:0003053
27 constricted iliac wings63 HP:0003277
28 ovoid vertebral bodies63 HP:0003300
29 hyperlordosis63 HP:0003307
30 cervical subluxation63 HP:0003308
31 hypoplasia of the odontoid process63 HP:0003311
32 disproportionate short-trunk short stature63 HP:0003521
33 intimal thickening in the coronary arteries63 HP:0005292
34 opacification of the corneal stroma63 HP:0007759
35 decreased beta-galactosidase activity63 HP:0008166
36 keratan sulfate excretion in urine63 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 Ivb24 GLB1

Anatomical Context for Mucopolysaccharidosis Type Ivb

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MalaCards organs/tissues related to Mucopolysaccharidosis Type Ivb:

35
Bone, 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
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:

69 (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 27)
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)SNVLikely pathogenicrs727503954GRCh37Chr 3, 33093388: 33093388
3GLB1NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys)SNVPathogenicrs794727165GRCh37Chr 3, 33038803: 33038803
4GLB1NM_000404.3(GLB1): c.602G> A (p.Arg201His)SNVPathogenicrs189115557GRCh37Chr 3, 33099712: 33099712
5GLB1NM_000404.3(GLB1): c.808T> G (p.Tyr270Asp)SNVPathogenicrs376663785GRCh37Chr 3, 33093481: 33093481
6GLB1NM_000404.3(GLB1): c.601C> T (p.Arg201Cys)SNVLikely pathogenic, Pathogenicrs72555360GRCh37Chr 3, 33099713: 33099713
7GLB1NM_000404.3(GLB1): c.1004C> T (p.Ala335Val)SNVLikely pathogenicrs398123347GRCh37Chr 3, 33087676: 33087676
8GLB1NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs)deletionPathogenicrs398123348GRCh37Chr 3, 33063116: 33063117
9GLB1NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile)SNVLikely pathogenicrs202237232GRCh37Chr 3, 33059977: 33059977
10GLB1NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs)duplicationPathogenicrs398123349GRCh37Chr 3, 33058214: 33058224
11GLB1NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter)SNVPathogenicrs398123350GRCh37Chr 3, 33114110: 33114110
12GLB1NM_000404.3(GLB1): c.1769G> A (p.Arg590His)SNVPathogenicrs398123351GRCh37Chr 3, 33038802: 33038802
13GLB1NM_000404.3(GLB1): c.397-1G> ASNVPathogenicrs398123353GRCh37Chr 3, 33109783: 33109783
14GLB1NM_000404.3(GLB1): c.442C> T (p.Arg148Cys)SNVPathogenicrs192732174GRCh37Chr 3, 33109737: 33109737
15GLB1NM_000404.3(GLB1): c.457+2T> CSNVPathogenicrs398123354GRCh37Chr 3, 33109720: 33109720
16GLB1NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs)duplicationPathogenicrs398123356GRCh37Chr 3, 33138527: 33138527
17GLB1NM_000404.3(GLB1): c.75+1G> CSNVPathogenicrs398123358GRCh37Chr 3, 33138502: 33138502
18GLB1NM_000404.3(GLB1): c.818G> T (p.Trp273Leu)SNVPathogenicrs72555362GRCh37Chr 3, 33093471: 33093471
19GLB1NM_000404.3(GLB1): c.1445G> A (p.Arg482His)SNVPathogenicrs72555391GRCh37Chr 3, 33058235: 33058235
20GLB1NM_000404.3(GLB1): c.1527G> T (p.Trp509Cys)SNVPathogenicrs72555363GRCh37Chr 3, 33055755: 33055755
21GLB1NM_000404.3(GLB1): c.247T> C (p.Tyr83His)SNVPathogenicrs72555364GRCh37Chr 3, 33110461: 33110461
22GLB1NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys)SNVPathogenicrs72555365GRCh37Chr 3, 33058236: 33058236
23GLB1NM_000404.3(GLB1): c.622C> T (p.Arg208Cys)SNVPathogenicrs72555366GRCh37Chr 3, 33099692: 33099692
24GLB1NM_000404.3(GLB1): c.1313G> A (p.Gly438Glu)SNVPathogenicrs72555367GRCh37Chr 3, 33059974: 33059974
25GLB1NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala)SNVPathogenicrs72555368GRCh37Chr 3, 33055784: 33055784
26GLB1NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro)SNVPathogenicrs72555369GRCh37Chr 3, 33063068: 33063068
27GLB1NM_000404.3(GLB1): c.176G> A (p.Arg59His)SNVPathogenicrs72555392GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet