Mucopolysaccharidosis type 7

General Information (adopted from Orphanet):

Synonyms, Signs: SLY SYNDROME
MPS VII
GUSB DEFICIENCY
MPS7
beta-glucuronidase deficiency
Sly disease
Number of Symptoms 62
OrphanetNr: 584
OMIM Id: 253220
ICD-10: E76.2
UMLs: C0085132
MeSH: D016538
MedDRA: 10056893
Snomed: 124470009
43916004

Prevalence, inheritance and age of onset:

Prevalence: 0.01 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lysosomal storage disease with skeletal involvement
 -Rare bone disease
 -Rare genetic disease
Mucopolysaccharidosis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003541) Urinary glycosaminoglycan excretion 6 / 7739
2
 (HPO:0008301) Dermatan sulfate excretion in urine 8 / 7739
3
 (HPO:0012368) Flat face Very frequent [Orphanet] 106 / 7739
4
 (HPO:0002680) J-shaped sella turcica 15 / 7739
5
 (HPO:0000256) Macrocephaly 298 / 7739
6
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
7
 (HPO:0000470) Short neck Occasional [Orphanet] 345 / 7739
8
 (HPO:0007957) Corneal opacity 84 / 7739
9
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
10
 (HPO:0000365) Hearing impairment 539 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0010655) Epiphyseal stippling Frequent [Orphanet] 32 / 7739
13
 (HPO:0004607) Anterior beaking of lower thoracic vertebrae 1 / 7739
14
 (HPO:0006119) Proximal tapering of metacarpals 3 / 7739
15
 (HPO:0000768) Pectus carinatum 136 / 7739
16
 (HPO:0001371) Flexion contracture 220 / 7739
17
 (HPO:0001840) Metatarsus adductus 49 / 7739
18
 (HPO:0000926) Platyspondyly 150 / 7739
19
 (HPO:0008430) Anterior beaking of lumbar vertebrae 5 / 7739
20
 (HPO:0003375) Narrow greater sacrosciatic notches 13 / 7739
21
 (HPO:0000943) Dysostosis multiplex 22 / 7739
22
 (HPO:0003311) Hypoplasia of the odontoid process 34 / 7739
23
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
24
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
25
 (HPO:0005619) Thoracolumbar kyphosis 8 / 7739
26
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
27
 (HPO:0008807) Acetabular dysplasia 6 / 7739
28
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
29
 (HPO:0100625) Enlarged thorax Occasional [Orphanet] 15 / 7739
30
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
31
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
32
 (HPO:0001789) Hydrops fetalis Frequent [Orphanet] 63 / 7739
33
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
34
 (HPO:0000023) Inguinal hernia 181 / 7739
35
 (HPO:0002240) Hepatomegaly 467 / 7739
36
 (HPO:0001541) Ascites Very frequent [Orphanet] 94 / 7739
37
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
38
 (HPO:0006568) Increased hepatic glycogen content Frequent [Orphanet] 34 / 7739
39
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
40
 (HPO:0001537) Umbilical hernia Very frequent [Orphanet] 206 / 7739
41
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
42
 (HPO:0008897) Postnatal growth retardation 113 / 7739
43
 (HPO:0001007) Hirsutism 91 / 7739
44
 (HPO:0001654) Abnormality of the heart valves 49 / 7739
45
 (HPO:0100026) Arteriovenous malformation Occasional [Orphanet] 38 / 7739
46
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Frequent [Orphanet] 17 / 7739
47
 (HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
48
 (HPO:0002103) Abnormality of the pleura Very frequent [Orphanet] 58 / 7739
49
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
50
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
51
 (HPO:0000238) Hydrocephalus 278 / 7739
52
 (OMIM) Dyostosis multiplex 1 / 7739
53
 (OMIM) Anterior beaking of lower thoracic and lumbar vertebrae 1 / 7739
54
 (OMIM) Flaring of lower ribs 1 / 7739
55
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
56
 (OMIM) Beta-glucuronidase deficiency in fibroblasts and leukocytes 1 / 7739
57
 (HPO:0002180) Neurodegeneration 31 / 7739
58
 (OMIM) Variable degree of corneal opacities 1 / 7739
59
 (OMIM) Dermatan and heparan sulfate excretion in urine 2 / 7739
60
 (OMIM) Coarse metachromatic granules in white blood cells 1 / 7739
61
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
62
 (OMIM) Chondroitin 4-, 6-sulfate excretion in urine 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most ...
Diagnosis OMIM - Prenatal Diagnosis

Lissens et al. (1991) described a case of beta-glucuronidase deficiency presenting as nonimmune hydrops fetalis diagnosed at 26 weeks of gestation. The deficiency was disclosed on cultured amniotic fluid cells and in fetal ...
Clinical Description OMIM Sly et al. (1973) reported a boy with skeletal changes consistent with a mucopolysaccharidosis, hepatosplenomegaly, and granular inclusions in granulocytes. He had hernias, unusual facies, protruding sternum, thoracolumbar gibbus, vertebral deformities, and mental deficiency. Fibroblasts demonstrated deficiency of ...
Molecular genetics OMIM In 2 unrelated Japanese patients with MPS VII, Tomatsu et al. (1991) identified 2 different homozygous mutations in the GUSB gene (611499.0001 and 611499.0002, respectively).

Using RT-PCR-SSCP and direct sequencing to screen for mutations in the ...