MCID: MCP048
MIFTS: 30

Mucopolysaccharidosis, Type Ivb

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Metabolic diseases, Fetal diseases, Neuronal diseases, Skin diseases, Respiratory diseases, Blood diseases

Aliases & Classifications for Mucopolysaccharidosis, Type Ivb

MalaCards integrated aliases for Mucopolysaccharidosis, Type Ivb:

Name: Mucopolysaccharidosis, Type Ivb 57 40
Mucopolysaccharidosis Type Ivb 57 53 59 75 13 73
Morquio Syndrome B 57 53 75
Mps Ivb 57 53 75
Mps4b 57 59 75
Mucopolysaccharidosis Type Iv-B 76
Beta-D-Galactosidase Deficiency 59
Mucopolysaccharidosis Type 4b 59
Mucopolysaccharidosis 4b 75
Morquio Disease, Type B 76
Morquio Disease Type B 59
Morquio's Syndrome B 75
Mps-Ivb 75
Mps 4b 53
Mpsivb 59

Characteristics:

Orphanet epidemiological data:

59
mucopolysaccharidosis type 4b
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
appear normal at birth
onset between 1-3 years


HPO:

32
mucopolysaccharidosis, type ivb:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis, Type Ivb

UniProtKB/Swiss-Prot : 75 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 mucopolysaccharidosis type ivb, is related to mucopolysaccharidosis iv and morquio syndrome c, and has symptoms including ulnar deviation of the wrist An important gene associated with Mucopolysaccharidosis, Type Ivb is GLB1 (Galactosidase Beta 1). Affiliated tissues include bone, lung and heart, and related phenotypes are genu valgum and scoliosis

OMIM : 57 Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001). See mucopolysaccharidosis type IVA (253000), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (612222) on chromosome 16q24. There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (252300). (253010)

Wikipedia : 76 Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or... more...

Related Diseases for Mucopolysaccharidosis, Type Ivb

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Ivb

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
joint laxity
ulnar deviation of the wrist
widened metaphyses
epiphyseal deformities of tubular bones

Abdomen External Features:
inguinal hernia

Skeletal:
osteoporosis

Head And Neck Ears:
hearing loss

Neurologic Central Nervous System:
normal intelligence
cervical myelopathy

Head And Neck Eyes:
corneal opacities

Growth Height:
short-trunked dwarfism
adult height 82-115 cm

Abdomen Liver:
mild hepatomegaly

Skeletal Hands:
pointed proximal second through fifth metacarpals

Cardiovascular Heart:
valvular heart disease aortic valve stenosis

Skeletal Spine:
scoliosis
kyphosis
hyperlordosis
ovoid vertebral bodies
platyspondyly
more
Head And Neck Teeth:
widely spaced teeth
grayish enamel
frequent caries

Skeletal Pelvis:
coxa valga
constricted iliac wings

Head And Neck Face:
prognathism
mildly coarse facial features

Respiratory Lung:
restrictive lung disease

Head And Neck Mouth:
broad mouth

Respiratory Airways:
frequent upper respiratory tract infections

Chest Ribs Sternum Clavicles And Scapulae:
flaring of rib cage
prominent sternum

Laboratory Abnormalities:
keratan sulfate excretion in urine that decreases with age
beta-galactosidase deficiency in fibroblasts and white blood cells

Cardiovascular Vascular:
intimal thickening in the coronary arteries


Clinical features from OMIM:

253010

Human phenotypes related to Mucopolysaccharidosis, Type Ivb:

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

UMLS symptoms related to Mucopolysaccharidosis, Type Ivb:


ulnar deviation of the wrist

Drugs & Therapeutics for Mucopolysaccharidosis, Type Ivb

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pregnancy With Morquio Syndrome - What Are Patients' Perspectives and Has ERT Changed Them? Recruiting NCT03150069

Search NIH Clinical Center for Mucopolysaccharidosis, Type Ivb

Genetic Tests for Mucopolysaccharidosis, Type Ivb

Anatomical Context for Mucopolysaccharidosis, Type Ivb

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Ivb:

41
Bone, Lung, Heart, Eye, Skin

Publications for Mucopolysaccharidosis, Type Ivb

Articles related to Mucopolysaccharidosis, Type Ivb:

# Title Authors Year
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

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

75 (show all 15)
# Symbol AA change Variation ID SNP ID
1 GLB1 p.Trp273Leu VAR_003333
2 GLB1 p.Arg482His VAR_003336
3 GLB1 p.Trp509Cys VAR_003337
4 GLB1 p.Tyr83His VAR_008674
5 GLB1 p.Arg482Cys VAR_008678
6 GLB1 p.Gln408Pro VAR_013550
7 GLB1 p.Gly438Glu VAR_013551
8 GLB1 p.Asn484Lys VAR_013552
9 GLB1 p.Thr500Ala VAR_013554
10 GLB1 p.Tyr83Cys VAR_062343
11 GLB1 p.Ser149Phe VAR_062347
12 GLB1 p.Asp198Tyr VAR_062352
13 GLB1 p.Pro397Ala VAR_062362
14 GLB1 p.Tyr444Cys VAR_062368
15 GLB1 p.Gly494Ser VAR_062369

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Ivb:

6
(show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 GLB1 NM_000404.3(GLB1): c.818G> T (p.Trp273Leu) single nucleotide variant Pathogenic rs72555362 GRCh37 Chromosome 3, 33093471: 33093471
2 GLB1 NM_000404.3(GLB1): c.818G> T (p.Trp273Leu) single nucleotide variant Pathogenic rs72555362 GRCh38 Chromosome 3, 33051979: 33051979
3 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh37 Chromosome 3, 33058235: 33058235
4 GLB1 NM_000404.3(GLB1): c.1445G> A (p.Arg482His) single nucleotide variant Pathogenic rs72555391 GRCh38 Chromosome 3, 33016743: 33016743
5 GLB1 NM_000404.3(GLB1): c.1527G> T (p.Trp509Cys) single nucleotide variant Pathogenic rs72555363 GRCh37 Chromosome 3, 33055755: 33055755
6 GLB1 NM_000404.3(GLB1): c.1527G> T (p.Trp509Cys) single nucleotide variant Pathogenic rs72555363 GRCh38 Chromosome 3, 33014263: 33014263
7 GLB1 NM_000404.3(GLB1): c.247T> C (p.Tyr83His) single nucleotide variant Pathogenic rs72555364 GRCh37 Chromosome 3, 33110461: 33110461
8 GLB1 NM_000404.3(GLB1): c.247T> C (p.Tyr83His) single nucleotide variant Pathogenic rs72555364 GRCh38 Chromosome 3, 33068969: 33068969
9 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Pathogenic rs72555365 GRCh37 Chromosome 3, 33058236: 33058236
10 GLB1 NM_000404.3(GLB1): c.1444C> T (p.Arg482Cys) single nucleotide variant Pathogenic rs72555365 GRCh38 Chromosome 3, 33016744: 33016744
11 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh37 Chromosome 3, 33099692: 33099692
12 GLB1 NM_000404.3(GLB1): c.622C> T (p.Arg208Cys) single nucleotide variant Pathogenic rs72555366 GRCh38 Chromosome 3, 33058200: 33058200
13 GLB1 NM_000404.3(GLB1): c.1313G> A (p.Gly438Glu) single nucleotide variant Pathogenic rs72555367 GRCh37 Chromosome 3, 33059974: 33059974
14 GLB1 NM_000404.3(GLB1): c.1313G> A (p.Gly438Glu) single nucleotide variant Pathogenic rs72555367 GRCh38 Chromosome 3, 33018482: 33018482
15 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Pathogenic rs72555368 GRCh37 Chromosome 3, 33055784: 33055784
16 GLB1 NM_000404.3(GLB1): c.1498A> G (p.Thr500Ala) single nucleotide variant Pathogenic rs72555368 GRCh38 Chromosome 3, 33014292: 33014292
17 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Pathogenic rs72555369 GRCh37 Chromosome 3, 33063068: 33063068
18 GLB1 NM_000404.3(GLB1): c.1223A> C (p.Gln408Pro) single nucleotide variant Pathogenic rs72555369 GRCh38 Chromosome 3, 33021576: 33021576
19 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh37 Chromosome 3, 33114105: 33114105
20 GLB1 NM_000404.3(GLB1): c.176G> A (p.Arg59His) single nucleotide variant Pathogenic rs72555392 GRCh38 Chromosome 3, 33072613: 33072613
21 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh37 Chromosome 3, 33106989: 33106989
22 GLB1 NM_000404.3(GLB1): c.518T> C (p.Leu173Pro) single nucleotide variant Likely pathogenic rs397515617 GRCh38 Chromosome 3, 33065497: 33065497
23 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh37 Chromosome 3, 33087676: 33087676
24 GLB1 NM_000404.3(GLB1): c.1004C> T (p.Ala335Val) single nucleotide variant Likely pathogenic rs398123347 GRCh38 Chromosome 3, 33046184: 33046184
25 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh37 Chromosome 3, 33063116: 33063117
26 GLB1 NM_000404.3(GLB1): c.1174_1175delCT (p.Leu392Valfs) deletion Pathogenic rs398123348 GRCh38 Chromosome 3, 33021624: 33021625
27 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh37 Chromosome 3, 33059977: 33059977
28 GLB1 NM_000404.3(GLB1): c.1310A> T (p.Asn437Ile) single nucleotide variant Likely pathogenic rs202237232 GRCh38 Chromosome 3, 33018485: 33018485
29 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh37 Chromosome 3, 33058214: 33058224
30 GLB1 NM_000404.3(GLB1): c.1456_1466dupGGTGCATATAT (p.Ile489Metfs) duplication Pathogenic rs398123349 GRCh38 Chromosome 3, 33016722: 33016732
31 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh37 Chromosome 3, 33114110: 33114110
32 GLB1 NM_000404.3(GLB1): c.171C> G (p.Tyr57Ter) single nucleotide variant Pathogenic rs398123350 GRCh38 Chromosome 3, 33072618: 33072618
33 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh37 Chromosome 3, 33038802: 33038802
34 GLB1 NM_000404.3(GLB1): c.1769G> A (p.Arg590His) single nucleotide variant Pathogenic rs398123351 GRCh38 Chromosome 3, 32997310: 32997310
35 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh37 Chromosome 3, 33109783: 33109783
36 GLB1 NM_000404.3(GLB1): c.397-1G> A single nucleotide variant Pathogenic rs398123353 GRCh38 Chromosome 3, 33068291: 33068291
37 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh37 Chromosome 3, 33109737: 33109737
38 GLB1 NM_000404.3(GLB1): c.442C> T (p.Arg148Cys) single nucleotide variant Pathogenic rs192732174 GRCh38 Chromosome 3, 33068245: 33068245
39 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh37 Chromosome 3, 33109720: 33109720
40 GLB1 NM_000404.3(GLB1): c.457+2T> C single nucleotide variant Pathogenic rs398123354 GRCh38 Chromosome 3, 33068228: 33068228
41 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh37 Chromosome 3, 33138527: 33138527
42 GLB1 NM_000404.3(GLB1): c.51dupT (p.Leu18Serfs) duplication Pathogenic rs398123356 GRCh38 Chromosome 3, 33097035: 33097035
43 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh37 Chromosome 3, 33138502: 33138502
44 GLB1 NM_000404.3(GLB1): c.75+1G> C single nucleotide variant Pathogenic rs398123358 GRCh38 Chromosome 3, 33097010: 33097010
45 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh37 Chromosome 3, 33093388: 33093388
46 GLB1 NM_000404.3(GLB1): c.901G> A (p.Ala301Thr) single nucleotide variant Likely pathogenic rs727503954 GRCh38 Chromosome 3, 33051896: 33051896
47 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh37 Chromosome 3, 33065809: 33065809
48 GLB1 NM_000404.3(GLB1): c.1077delA (p.Val360Tyrfs) deletion Pathogenic rs727503952 GRCh38 Chromosome 3, 33024317: 33024317
49 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh37 Chromosome 3, 33038803: 33038803
50 GLB1 NM_000404.3(GLB1): c.1768C> T (p.Arg590Cys) single nucleotide variant Pathogenic rs794727165 GRCh38 Chromosome 3, 32997311: 32997311

Expression for Mucopolysaccharidosis, Type Ivb

Search GEO for disease gene expression data for Mucopolysaccharidosis, Type Ivb.

Pathways for Mucopolysaccharidosis, Type Ivb

GO Terms for Mucopolysaccharidosis, Type Ivb

Sources for Mucopolysaccharidosis, Type Ivb

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