Mucopolysaccharidosis type 4B

General Information (adopted from Orphanet):

Synonyms, Signs: MORQUIO SYNDROME B
MPSIVB
MPS IVB
MPS4B
Morquio disease type B
Beta-D-galactosidase deficiency
Number of Symptoms 45
OrphanetNr: 309310
OMIM Id: 253010
ICD-10: E76.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Mucopolysaccharidosis type 4
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012069) Keratan sulfate excretion in urine 3 / 7739
2
 (HPO:0000687) Widely spaced teeth 40 / 7739
3
 (HPO:0000670) Carious teeth 145 / 7739
4
 (HPO:0002788) Recurrent upper respiratory tract infections 31 / 7739
5
 (HPO:0000303) Mandibular prognathia 179 / 7739
6
 (HPO:0000154) Wide mouth 137 / 7739
7
 (HPO:0000683) Grayish enamel 2 / 7739
8
 (HPO:0000280) Coarse facial features 189 / 7739
9
 (HPO:0007957) Corneal opacity 84 / 7739
10
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
11
 (HPO:0000365) Hearing impairment 539 / 7739
12
 (HPO:0003049) Ulnar deviation of the wrist 6 / 7739
13
 (HPO:0003307) Hyperlordosis 122 / 7739
14
 (HPO:0000884) Prominent sternum 11 / 7739
15
 (HPO:0003308) Cervical subluxation 6 / 7739
16
 (HPO:0003277) Constricted iliac wings 2 / 7739
17
 (HPO:0003053) Epiphyseal deformities of tubular bones 2 / 7739
18
 (HPO:0002673) Coxa valga 57 / 7739
19
 (HPO:0001223) Pointed proximal second through fifth metacarpals 2 / 7739
20
 (HPO:0003300) Ovoid vertebral bodies 21 / 7739
21
 (HPO:0003016) Metaphyseal widening 41 / 7739
22
 (HPO:0001388) Joint laxity 117 / 7739
23
 (HPO:0002808) Kyphosis 289 / 7739
24
 (HPO:0000926) Platyspondyly 150 / 7739
25
 (HPO:0002650) Scoliosis 705 / 7739
26
 (HPO:0000939) Osteoporosis 129 / 7739
27
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
28
 (HPO:0000904) Flaring of rib cage 4 / 7739
29
 (HPO:0003521) Disproportionate short-trunk short stature 29 / 7739
30
 (HPO:0002857) Genu valgum 144 / 7739
31
 (HPO:0002240) Hepatomegaly 467 / 7739
32
 (HPO:0000023) Inguinal hernia 181 / 7739
33
 (HPO:0001650) Aortic valve stenosis 49 / 7739
34
 (HPO:0005292) Intimal thickening in the coronary arteries 2 / 7739
35
 (HPO:0008166) Decreased beta-galactosidase activity 6 / 7739
36
 (HPO:0002091) Restrictive ventilatory defect 46 / 7739
37
 (HPO:0003621) Juvenile onset 105 / 7739
38
 (OMIM) Hepatomegaly, mild 8 / 7739
39
 (OMIM) Mildly coarse facial features 2 / 7739
40
 (OMIM) Keratan sulfate excretion in urine that decreases with age 2 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (HPO:0002318) Cervical myelopathy 10 / 7739
43
 (OMIM) Normal intelligence 81 / 7739
44
 (OMIM) Valvular heart disease Aortic valve stenosis 1 / 7739
45
 (OMIM) Adult height 82-115 cm 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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). ...
Clinical Description OMIM O'Brien et al. (1976) reported a 14-year-old girl with spondyloepiphyseal dysplasia, corneal clouding, and beta-galactosidase deficiency. Radiographic features included flattening of the vertebral bodies and femoral heads, coxa valga, abnormal metacarpal epiphyses, and narrowed phalanges. Beta-galactosidase activity was ...
Genotype-Phenotype Correlations OMIM Hinek et al. (2000) performed functional expression studies on several GLB1 mutations resulting in Morquio syndrome B (see, e.g., G438E, 611458.0018; T500A; W273L, 611458.0009; and R482H, 611458.0010). All of the mutations were located in the coding region common ...
Molecular genetics OMIM In 3 patients with Morquio syndrome B, Oshima et al. (1991) identified 3 different compound heterozygous mutations in the GLB1 gene (611458.0009-611458.0011).

In a 15-year-old Japanese boy who presented with Morquio syndrome B, Ishii et al. ...