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 52 48 24 54 70 12 68
Morquio Syndrome B 48 24 70
Mps Ivb 48 24 70
Mps4b 24 54 70
Beta-D-Galactosidase Deficiency 54
Mucopolysaccharidosis Type 4b 54
Mucopolysaccharidosis 4b 70
 
Morquio Disease Type B 54
Morquio's Syndrome B 70
Morquio B Disease 24
Mps-Ivb 70
Mpsivb 54
Mps 4b 48

Characteristics:

Orphanet epidemiological data:

54
mucopolysaccharidosis type ivb:
Inheritance: Autosomal recessive

HPO:

64
mucopolysaccharidosis type ivb:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 253010
Orphanet54 ORPHA309310
UMLS via Orphanet69 C0086652
ICD10 via Orphanet31 E76.2
MedGen37 C0086652
MeSH39 D009085

Summaries for Mucopolysaccharidosis Type Ivb

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes 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:

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 wide mouth64 HP:0000154
3 coarse facial features64 HP:0000280
4 mandibular prognathia64 HP:0000303
5 hearing impairment64 HP:0000365
6 carious teeth64 HP:0000670
7 grayish enamel64 HP:0000683
8 widely spaced teeth64 HP:0000687
9 prominent sternum64 HP:0000884
10 flaring of rib cage64 HP:0000904
11 platyspondyly64 HP:0000926
12 osteoporosis64 HP:0000939
13 pointed proximal second through fifth metacarpals64 HP:0001223
14 joint laxity64 HP:0001388
15 aortic valve stenosis64 HP:0001650
16 restrictive ventilatory defect64 HP:0002091
17 hepatomegaly64 HP:0002240
18 cervical myelopathy64 HP:0002318
19 scoliosis64 HP:0002650
20 coxa valga64 HP:0002673
21 recurrent upper respiratory tract infections64 HP:0002788
22 kyphosis64 HP:0002808
23 genu valgum64 HP:0002857
24 metaphyseal widening64 HP:0003016
25 ulnar deviation of the wrist64 HP:0003049
26 epiphyseal deformities of tubular bones64 HP:0003053
27 constricted iliac wings64 HP:0003277
28 ovoid vertebral bodies64 HP:0003300
29 hyperlordosis64 HP:0003307
30 cervical subluxation64 HP:0003308
31 hypoplasia of the odontoid process64 HP:0003311
32 disproportionate short-trunk short stature64 HP:0003521
33 intimal thickening in the coronary arteries64 HP:0005292
34 opacification of the corneal stroma64 HP:0007759
35 decreased beta-galactosidase activity64 HP:0008166
36 keratan sulfate excretion in urine64 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:

36
Bone, Eye, Skin

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:

70 (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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet