MCID: MCP049
MIFTS: 63

Mucopolysaccharidosis, Type Vii

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 Vii

MalaCards integrated aliases for Mucopolysaccharidosis, Type Vii:

Name: Mucopolysaccharidosis, Type Vii 57
Mucopolysaccharidosis Type Vii 53 25 59 75 37 29 55 6 40
Sly Syndrome 57 12 76 53 25 75 15
Beta-Glucuronidase Deficiency 57 12 53 25 59 75
Mucopolysaccharidosis Vii 57 12 25 13 44 73
Gusb Deficiency 57 53 25 75
Mps Vii 57 53 25 75
Mps7 57 25 59 75
Mucopolysaccharidosis Type 7 53 59
Mucopolysaccharidosis 7 25 75
Deficiency of Beta-Glucuronidase 12
Mps Vii - Sly Syndrome 12
Glucuronidase, Beta- 13
Sly Disease 59
Mpsvii 59
Mps 7 53
Sle 3

Characteristics:

Orphanet epidemiological data:

59
mucopolysaccharidosis type 7
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Netherlands),<1/1000000 (Czech Republic); Age of onset: Childhood; Age of death: adolescent,late childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
wide spectrum of severity


HPO:

32
mucopolysaccharidosis, type vii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis, Type Vii

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 584Disease definitionMucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.EpidemiologyLess than 40 patients with neonatal to moderate presentation have been reported since the initial description of the disease by Sly in 1973. However, the frequency of the disease may be underestimated as the most frequent presentation is the antenatal form, which remains underdiagnosed.Clinical descriptionClinical signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, severe hypotonia and neurological disorders that ultimately lead to profound intellectual deficit and small stature in patients that survive. Finally, there are also very mild cases that are discovered during adolescence or adulthood following presentation with thoracic kyphosis.EtiologyThe disease is caused by beta-D-glucuronidase deficiency, which leads to accumulation of several glycosaminoglycans (dermatan sulfate (DS), heparan sulfate (HS), and chondroitin sulfate (CS)) in lysosomes. The causative gene has been located on 7q21-q22 and more than 40 mutations have been identified.Diagnostic methodsDiagnosis is suspected after detection of increased levels of urinary glycosaminoglycan (either CS alone or CS+HS+DS) excretion, although this sign may be absent in adult forms. Diagnosis is confirmed by demonstration of beta-D-glucuronidase deficiency in cultured leucocytes or fibroblasts. Pseudodeficient alleles make mild forms more difficult to identify and prenatal diagnosis difficult.Differential diagnosisDifferential diagnosis includes other types of MPS and oligosaccharidosis. The determination of enzymatic activity in leucocytes allows heterozygous individuals to be detected for the severe forms. When the two mutations have been identified in the index patient, the detection of heterozygous relatives can be accurately performed.Antenatal diagnosisDiagnosis is essential in forms with in utero presentation in order to avoid the recurrence of pregnancies leading to in utero death or to late termination of the pregnancy. In the absence of any efficient treatment, prenatal diagnosis (by molecular analysis or measurement of enzyme activity in trophoblasts or amniocytes) is offered to parents with an affected child.Genetic counselingTransmission is autosomal recessive.Management and treatmentMultidisciplinary management allows adapted symptomatic treatment, which is essential for improving the quality of life of the patients. In late-onset forms, treatment is mainly orthopaedic. Bone marrow transplantation has been attempted for one mild case. Multiple assays of other specific treatments are being performed in animal models: allogenic bone marrow transplantation, gene therapy and enzyme replacement therapy (with recombinant enzyme or intraperitoneal implants of autologous genetically modified fibroblasts or ``neo-organs'').PrognosisPrognosis is poor for antenatal forms, most often leading to death in utero. Neonatal and childhood forms have a very limited life expectancy, whereas milder forms have a prolonged survival.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mucopolysaccharidosis, Type Vii, also known as mucopolysaccharidosis type vii, is related to lysosomal storage disease and systemic lupus erythematosus. An important gene associated with Mucopolysaccharidosis, Type Vii is GUSB (Glucuronidase Beta), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and heart, and related phenotypes are short neck and intellectual disability

OMIM : 57 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 patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved. (253220)

UniProtKB/Swiss-Prot : 75 Mucopolysaccharidosis 7: An autosomal recessive lysosomal storage disease characterized by 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 patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.

CDC : 3 Lupus occurs when an unknown trigger causes a person’s own immune system to attack their tissues, damaging the tissues and producing widespread inflammation. There is no known cause or cure for lupus; however, treatments are available.

Genetics Home Reference : 25 Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.

Disease Ontology : 12 A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans.

Wikipedia : 76 Sly syndrome, also called mucopolysaccharidosis type VII (MPS 7), is an autosomal recessive lysosomal... more...

Related Diseases for Mucopolysaccharidosis, Type Vii

Diseases in the Mucopolysaccharidosis-Plus Syndrome family:

Mucopolysaccharidosis, Type Iiia Mucopolysaccharidosis, Type Iiib
Mucopolysaccharidosis, Type Iiic Mucopolysaccharidosis, Type Iiid
Mucopolysaccharidosis, Type Iva Mucopolysaccharidosis, Type Ivb
Mucopolysaccharidosis Type Vi Mucopolysaccharidosis, Type Vii
Mucopolysaccharidosis, Type Ii Mucopolysaccharidosis, Type Ix
Mucopolysaccharidosis Iii Mucopolysaccharidosis Iv
Mucopolysaccharidosis Type 2, Severe Form

Diseases related to Mucopolysaccharidosis, Type Vii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 25.5 GALNS GLB1 GUSB HEXA IDUA MANBA
2 systemic lupus erythematosus 12.1
3 lupus erythematosus 11.8
4 c1q deficiency 11.5
5 pediatric systemic lupus erythematosus 11.2
6 macrophage activation syndrome 11.2
7 systemic lupus erythematosus 16 11.0
8 drug-induced lupus erythematosus 11.0
9 neonatal lupus erythematosus 11.0
10 neonatal systemic lupus erythematosus 10.9
11 pseudo-torch syndrome 1 10.8
12 chilblain lupus 1 10.8
13 chilblain lupus 2 10.8
14 aicardi-goutieres syndrome 10.8
15 mucopolysaccharidoses 10.4 GUSB IDUA
16 hepatitis 10.1
17 mucolipidosis iii alpha/beta 10.1 GALNS GUSB
18 hydrops fetalis, nonimmune, and/or atrial septal defect 10.1
19 fetal edema 10.1
20 hydrops fetalis 10.1
21 mannosidosis 10.1 MANBA SGSH
22 mucopolysaccharidosis type vi 10.1 GALNS GUSB
23 arthritis 10.0
24 mannosidosis, alpha b, lysosomal 10.0 HEXA MANBA
25 antiphospholipid syndrome 10.0
26 rheumatoid arthritis 9.9
27 connective tissue disease 9.9
28 vasculitis 9.9
29 endotheliitis 9.9
30 hydrops fetalis, nonimmune 9.9
31 hemophilia a 9.9
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
33 cholestasis 9.9
34 neuronitis 9.9
35 periodontitis 9.9
36 hemophilia 9.9
37 skeletal dysplasias 9.9
38 immune hydrops fetalis 9.9
39 glomerulonephritis 9.8
40 hemolytic anemia 9.8
41 myelitis 9.8
42 hurler syndrome 9.8 GLB1 IDUA
43 autoimmune disease 9.8
44 sjogren syndrome 9.8
45 aging 9.8
46 autoimmune disease 1 9.8
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
48 rheumatic disease 9.8
49 enthesopathy 9.8
50 complement deficiency 9.8

Graphical network of the top 20 diseases related to Mucopolysaccharidosis, Type Vii:



Diseases related to Mucopolysaccharidosis, Type Vii

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Vii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Skeletal Limbs:
genu valgum
joint contractures

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
odontoid hypoplasia
thoracolumbar gibbus
more
Head And Neck Mouth:
widely spaced teeth
abnormal dentition
gingival hypertrophy
enlarged tongue

Abdomen Liver:
hepatomegaly

Growth Height:
short stature

Prenatal Manifestations:
hydrops fetalis

Cardiovascular Heart:
cardiomyopathy
valvular heart disease

Skeletal Skull:
j-shaped sella turcica

Head And Neck Ears:
hearing loss

Head And Neck Eyes:
heavy eyebrows
variable degree of corneal opacities

Respiratory:
recurrent upper respiratory infections
decreased pulmonary function

Laboratory Abnormalities:
beta-glucuronidase deficiency in fibroblasts and leukocytes
dermatan and heparan sulfate excretion in urine
coarse metachromatic granules in white blood cells
chondroitin 4-, 6-sulfate excretion in urine

Head And Neck Neck:
short neck

Neurologic Central Nervous System:
hydrocephalus
neurodegeneration
poor speech
mental retardation

Abdomen External Features:
inguinal hernia
umbilical hernia

AbdomenSpleen:
splenomegaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
flaring of lower ribs
chest deformities

Skeletal:
dysostosis multiplex

Skeletal Feet:
metatarsus adductus
talipes equinovarus

Skin Nails Hair Hair:
hirsutism

Skeletal Pelvis:
acetabular dysplasia
narrow sciatic notches

Head And Neck Face:
coarse facies

Growth Other:
postnatal growth deficiency

Skeletal Hands:
pointed proximal metacarpals


Clinical features from OMIM:

253220

Human phenotypes related to Mucopolysaccharidosis, Type Vii:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 59 32 occasional (7.5%) Occasional (29-5%) HP:0000470
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
4 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
5 inguinal hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000023
6 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
7 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
8 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
9 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
10 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
11 umbilical hernia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001537
12 anterior beaking of lumbar vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0008430
13 mucopolysacchariduria 59 32 frequent (33%) Frequent (79-30%) HP:0008155
14 ascites 59 32 hallmark (90%) Very frequent (99-80%) HP:0001541
15 hepatitis 59 32 frequent (33%) Frequent (79-30%) HP:0012115
16 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
17 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
18 hydrops fetalis 59 32 frequent (33%) Frequent (79-30%) HP:0001789
19 metatarsus adductus 59 32 frequent (33%) Frequent (79-30%) HP:0001840
20 abnormality of the pleura 59 32 hallmark (90%) Very frequent (99-80%) HP:0002103
21 anterior beaking of lower thoracic vertebrae 59 32 hallmark (90%) Very frequent (99-80%) HP:0004607
22 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019
23 epiphyseal stippling 59 32 frequent (33%) Frequent (79-30%) HP:0010655
24 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
25 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
26 enlarged thorax 59 32 occasional (7.5%) Occasional (29-5%) HP:0100625
27 macrocephaly 32 HP:0000256
28 hydrocephalus 32 HP:0000238
29 hearing impairment 32 HP:0000365
30 hepatomegaly 32 HP:0002240
31 pectus carinatum 32 HP:0000768
32 short stature 32 HP:0004322
33 flexion contracture 32 HP:0001371
34 dysostosis multiplex 32 HP:0000943
35 platyspondyly 32 HP:0000926
36 postnatal growth retardation 32 HP:0008897
37 neurodegeneration 32 HP:0002180
38 hypoplasia of the odontoid process 32 HP:0003311
39 hirsutism 32 HP:0001007
40 j-shaped sella turcica 32 HP:0002680
41 acetabular dysplasia 32 HP:0008807
42 thoracolumbar kyphosis 32 HP:0005619
43 dermatan sulfate excretion in urine 32 HP:0008301
44 narrow greater sacrosciatic notches 32 HP:0003375
45 abnormal heart valve morphology 32 HP:0001654
46 urinary glycosaminoglycan excretion 32 HP:0003541
47 proximal tapering of metacarpals 32 HP:0006119

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Vii:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 HEXA IDUA IGF2 MANBA SGSH GLB1
2 cellular MP:0005384 10.05 GALNS GLB1 GUSB IDUA IGF2 MANBA
3 homeostasis/metabolism MP:0005376 9.98 IGF2 SGSH GALNS GLB1 GUSB HEXA
4 growth/size/body region MP:0005378 9.95 GLB1 GUSB HEXA IDUA IGF2 SGSH
5 hematopoietic system MP:0005397 9.93 GLB1 GUSB IDUA IGF2 MANBA SGSH
6 craniofacial MP:0005382 9.89 GUSB HEXA IDUA IGF2 SGSH
7 renal/urinary system MP:0005367 9.86 GALNS GLB1 GUSB HEXA IDUA IGF2
8 liver/biliary system MP:0005370 9.85 GLB1 HEXA IDUA IGF2 MANBA SGSH
9 nervous system MP:0003631 9.8 GLB1 HEXA IDUA IGF2 MANBA SGSH
10 limbs/digits/tail MP:0005371 9.71 GUSB HEXA IDUA IGF2
11 reproductive system MP:0005389 9.63 GLB1 GUSB HEXA IDUA IGF2 MANBA
12 skeleton MP:0005390 9.5 GALNS GLB1 GUSB HEXA IDUA IGF2
13 vision/eye MP:0005391 9.02 SGSH IGF2 GALNS HEXA IDUA

Drugs & Therapeutics for Mucopolysaccharidosis, Type Vii

Drugs for Mucopolysaccharidosis, Type Vii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrogen peroxide Approved, Vet_approved Phase 4 7722-84-1 784
2 Pharmaceutical Solutions Phase 4
3 Polyhexamethylene biguanide Phase 4
4
alemtuzumab Approved, Investigational Phase 2 216503-57-0
5
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
8
Mesna Approved, Investigational Phase 2 3375-50-6 598
9
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
10
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
11
Mycophenolic acid Approved Phase 2 24280-93-1 446541
12
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
13
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
14
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
15
rituximab Approved Phase 2 174722-31-7 10201696
16
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
17 tannic acid Approved, Nutraceutical Phase 2
18
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
19
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
20 Alkylating Agents Phase 2
21 Anti-Bacterial Agents Phase 2
22 Antibiotics, Antitubercular Phase 2
23 Antifungal Agents Phase 2
24 Anti-Infective Agents Phase 2
25 Antineoplastic Agents, Alkylating Phase 2
26 Antirheumatic Agents Phase 2
27 Antitubercular Agents Phase 2
28 Calcineurin Inhibitors Phase 2
29 Cyclosporins Phase 2
30 Dermatologic Agents Phase 2
31 Immunosuppressive Agents Phase 2
32 Antilymphocyte Serum Phase 2
33 Antimetabolites Phase 2
34 Antimetabolites, Antineoplastic Phase 2
35 N-monoacetylcystine Phase 2
36 Thioctic Acid Phase 2
37 Tocopherols Phase 2
38 Tocotrienols Phase 2
39 Vitamins Phase 2
40 Alpha-lipoic Acid Nutraceutical Phase 2
41 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 BIOCLEAN MPS (Multi-Purpose Solution) VII in Combination With Biofinity Lens: A Two Week Crossover Study Completed NCT02537730 Phase 4
2 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT02230566 Phase 3 UX003
3 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Active, not recruiting NCT02432144 Phase 3 UX003
4 An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of Study Drug UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT01856218 Phase 1, Phase 2 UX003
5 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
6 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
7 An Open-Label Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age Active, not recruiting NCT02418455 Phase 2 UX003
8 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
9 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
10 An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient No longer available NCT02097251 UX003
11 Biomarker for Sly Disease Terminated NCT02298699

Search NIH Clinical Center for Mucopolysaccharidosis, Type Vii

Cochrane evidence based reviews: mucopolysaccharidosis vii

Genetic Tests for Mucopolysaccharidosis, Type Vii

Genetic tests related to Mucopolysaccharidosis, Type Vii:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vii 29 GUSB

Anatomical Context for Mucopolysaccharidosis, Type Vii

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Vii:

41
Bone, Bone Marrow, Heart, Brain, Eye, Tongue, Liver

Publications for Mucopolysaccharidosis, Type Vii

Articles related to Mucopolysaccharidosis, Type Vii:

(show top 50) (show all 53)
# Title Authors Year
1
Large scale analysis of the mutational landscape in I^-glucuronidase: A major player of mucopolysaccharidosis type VII. ( 26415878 )
2015
2
Central Nervous System Delivery of Helper-Dependent Canine Adenovirus Corrects Neuropathology and Behavior in Mucopolysaccharidosis Type VII Mice. ( 24299455 )
2014
3
Mucopolysaccharidosis type VII: A powerful experimental system and therapeutic challenge. ( 25345098 )
2014
4
Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome). ( 21743015 )
2011
5
Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII. ( 19918911 )
2010
6
Widespread biochemical correction of murine mucopolysaccharidosis type VII pathology by liver hydrodynamic plasmid delivery. ( 19357715 )
2009
7
Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice. ( 18359257 )
2008
8
Sly Disease: Mucopolysaccharidosis Type VII. ( 18948660 )
2008
9
Histopathological and behavioral improvement of murine mucopolysaccharidosis type VII by intracerebral transplantation of neural stem cells. ( 16316785 )
2006
10
Encapsulation cell therapy for mucopolysaccharidosis type VII using genetically engineered immortalized human amniotic epithelial cells. ( 16636519 )
2006
11
Early onset of lysosomal storage disease in a murine model of mucopolysaccharidosis type VII: undegraded substrate accumulates in many tissues in the fetus and very young MPS VII mouse. ( 16222480 )
2005
12
Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice. ( 14976248 )
2004
13
Collection of a mobilized peripheral blood apheresis product from a patient with mucopolysaccharidosis type VII and subsequent CD34+ cell isolation. ( 15493049 )
2004
14
Craniovertebral instability with spinal cord compression in a 17-month-old boy with Sly syndrome (mucopolysaccharidosis type VII): a surgical dilemma. ( 15129089 )
2004
15
Improvement of skeletal lesions in mice with mucopolysaccharidosis type VII by neonatal adenoviral gene transfer. ( 14599804 )
2003
16
Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites. ( 12556933 )
2003
17
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. ( 12522561 )
2003
18
Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis. ( 14711113 )
2003
19
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. ( 12403825 )
2002
20
Intracranial injection of recombinant adeno-associated virus improves cognitive function in a murine model of mucopolysaccharidosis type VII. ( 11273777 )
2001
21
In utero transplantation of fetal liver cells in the mucopolysaccharidosis type VII mouse results in low-level chimerism, but overexpression of beta-glucuronidase can delay onset of clinical signs. ( 11238101 )
2001
22
Engraftment of genetically engineered amniotic epithelial cells corrects lysosomal storage in multiple areas of the brain in mucopolysaccharidosis type VII mice. ( 11237670 )
2001
23
In vivo treatment of hemophilia A and mucopolysaccharidosis type VII using nonprimate lentiviral vectors. ( 11407898 )
2001
24
Accumulation of abnormal amounts of glycosaminoglycans in murine mucopolysaccharidosis type VII neural progenitor cells does not alter the growth rate or efficiency of differentiation into neurons. ( 11161477 )
2001
25
Mucopolysaccharidosis type VII (Sly syndrome) presenting as neonatal cholestasis with hepatosplenomegaly. ( 11568529 )
2001
26
Adenovirus-mediated gene therapy for corneal clouding in mice with mucopolysaccharidosis type VII. ( 11592832 )
2001
27
Mucopolysaccharidosis type VII in the developing mouse fetus. ( 10832732 )
2000
28
Corneal transplantation in a patient with mucopolysaccharidosis type VII (Sly disease). ( 10779845 )
2000
29
Reversal of pathology in the entire brain of mucopolysaccharidosis type VII mice after lentivirus-mediated gene transfer. ( 10834616 )
2000
30
Phenotype correction in murine mucopolysaccharidosis type VII by transplantation of human amniotic epithelial cells after adenovirus-mediated gene transfer. ( 11144966 )
2000
31
Neonatal intramuscular injection with recombinant adeno-associated virus results in prolonged beta-glucuronidase expression in situ and correction of liver pathology in mucopolysaccharidosis type VII mice. ( 10022533 )
1999
32
Systemic and central nervous system correction of lysosomal storage in mucopolysaccharidosis type VII mice. ( 10074197 )
1999
33
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. ( 9490302 )
1998
34
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. ( 9728337 )
1998
35
Adenovirus-mediated gene transfer and expression of human beta-glucuronidase gene in the liver, spleen, and central nervous system in mucopolysaccharidosis type VII mice. ( 9037045 )
1997
36
Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications. ( 9155679 )
1997
37
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. ( 9099834 )
1997
38
Morphological alterations in dental and periodontal tissues in murine mucopolysaccharidosis type VII. ( 8574933 )
1995
39
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. ( 7633414 )
1995
40
Syngeneic bone marrow transplantation reduces the hearing loss associated with murine mucopolysaccharidosis type VII. ( 7655032 )
1995
41
Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII. ( 8083358 )
1994
42
Enzyme replacement with recombinant beta-glucuronidase in the newborn mucopolysaccharidosis type VII mouse. ( 8108204 )
1993
43
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. ( 7680524 )
1993
44
[Mucopolysaccharidosis type VII: characterization of exonic point mutations and molecular heterogeneity]. ( 8411710 )
1993
45
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. ( 8111413 )
1993
46
Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia. ( 1456283 )
1992
47
Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer. ( 1465145 )
1992
48
Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. ( 1905109 )
1991
49
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. ( 1702266 )
1991
50
Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. ( 2158095 )
1990

Variations for Mucopolysaccharidosis, Type Vii

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

75 (show all 36)
# Symbol AA change Variation ID SNP ID
1 GUSB p.Arg216Trp VAR_003196 rs121918174
2 GUSB p.Ala354Val VAR_003197 rs121918175
3 GUSB p.Arg382Cys VAR_003198 rs121918173
4 GUSB p.Arg611Trp VAR_003199 rs121918176
5 GUSB p.Ala619Val VAR_003200 rs121918172
6 GUSB p.Trp627Cys VAR_003201 rs121918184
7 GUSB p.Cys38Gly VAR_037914
8 GUSB p.Ser52Phe VAR_037915
9 GUSB p.Gly136Arg VAR_037916
10 GUSB p.Pro148Ser VAR_037917 rs121918177
11 GUSB p.Glu150Lys VAR_037918
12 GUSB p.Leu176Phe VAR_037920 rs121918181
13 GUSB p.Tyr320Cys VAR_037921
14 GUSB p.Tyr320Ser VAR_037922 rs886044680
15 GUSB p.Lys350Asn VAR_037923 rs121918182
16 GUSB p.His351Tyr VAR_037924 rs191153460
17 GUSB p.Arg374Cys VAR_037925 rs747572640
18 GUSB p.Arg382His VAR_037926
19 GUSB p.Pro408Ser VAR_037927 rs779091113
20 GUSB p.Pro415Leu VAR_037928 rs751025746
21 GUSB p.Arg435Pro VAR_037929
22 GUSB p.Arg477Trp VAR_037930 rs774393243
23 GUSB p.Tyr495Cys VAR_037931 rs121918178
24 GUSB p.Tyr508Cys VAR_037932
25 GUSB p.Gly572Asp VAR_037933
26 GUSB p.Arg577Leu VAR_037934 rs121918183
27 GUSB p.Lys606Asn VAR_037935
28 GUSB p.Tyr626His VAR_037936 rs777613366
29 GUSB p.Pro30Ser VAR_058511 rs747792546
30 GUSB p.Asp152Gly VAR_058512
31 GUSB p.Leu243Pro VAR_058513
32 GUSB p.Asn339Ser VAR_058514
33 GUSB p.Asp362Asn VAR_058516 rs398123234
34 GUSB p.Pro364Leu VAR_058517 rs771629102
35 GUSB p.Glu540Lys VAR_058518
36 GUSB p.Gly607Ala VAR_058519

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Vii:

6
(show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 GUSB NM_000181.3(GUSB): c.1856C> T (p.Ala619Val) single nucleotide variant Pathogenic rs121918172 GRCh37 Chromosome 7, 65425984: 65425984
2 GUSB NM_000181.3(GUSB): c.1856C> T (p.Ala619Val) single nucleotide variant Pathogenic rs121918172 GRCh38 Chromosome 7, 65960997: 65960997
3 GUSB NM_000181.3(GUSB): c.1144C> T (p.Arg382Cys) single nucleotide variant Likely pathogenic rs121918173 GRCh37 Chromosome 7, 65439613: 65439613
4 GUSB NM_000181.3(GUSB): c.1144C> T (p.Arg382Cys) single nucleotide variant Likely pathogenic rs121918173 GRCh38 Chromosome 7, 65974626: 65974626
5 GUSB NM_000181.3(GUSB): c.646C> T (p.Arg216Trp) single nucleotide variant Pathogenic rs121918174 GRCh37 Chromosome 7, 65444464: 65444464
6 GUSB NM_000181.3(GUSB): c.646C> T (p.Arg216Trp) single nucleotide variant Pathogenic rs121918174 GRCh38 Chromosome 7, 65979477: 65979477
7 GUSB NM_000181.3(GUSB): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs121918175 GRCh37 Chromosome 7, 65439910: 65439910
8 GUSB NM_000181.3(GUSB): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs121918175 GRCh38 Chromosome 7, 65974923: 65974923
9 GUSB NM_000181.3(GUSB): c.1831C> T (p.Arg611Trp) single nucleotide variant Pathogenic rs121918176 GRCh37 Chromosome 7, 65426009: 65426009
10 GUSB NM_000181.3(GUSB): c.1831C> T (p.Arg611Trp) single nucleotide variant Pathogenic rs121918176 GRCh38 Chromosome 7, 65961022: 65961022
11 GUSB NM_000181.3(GUSB): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs121918177 GRCh37 Chromosome 7, 65444853: 65444853
12 GUSB NM_000181.3(GUSB): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs121918177 GRCh38 Chromosome 7, 65979866: 65979866
13 GUSB NM_000181.3(GUSB): c.1484A> G (p.Tyr495Cys) single nucleotide variant Pathogenic rs121918178 GRCh37 Chromosome 7, 65432887: 65432887
14 GUSB NM_000181.3(GUSB): c.1484A> G (p.Tyr495Cys) single nucleotide variant Pathogenic rs121918178 GRCh38 Chromosome 7, 65967900: 65967900
15 GUSB NM_000181.3(GUSB): c.1521G> A (p.Trp507Ter) single nucleotide variant Pathogenic rs121918179 GRCh37 Chromosome 7, 65432850: 65432850
16 GUSB NM_000181.3(GUSB): c.1521G> A (p.Trp507Ter) single nucleotide variant Pathogenic rs121918179 GRCh38 Chromosome 7, 65967863: 65967863
17 GUSB NM_000181.3(GUSB): c.1616_1653del38 (p.Ser539Argfs*8) single nucleotide variant Pathogenic rs377519272 GRCh37 Chromosome 7, 65432754: 65432754
18 GUSB NM_000181.3(GUSB): c.1616_1653del38 (p.Ser539Argfs*8) single nucleotide variant Pathogenic rs377519272 GRCh38 Chromosome 7, 65967767: 65967767
19 GUSB NM_000181.3(GUSB): c.1730G> T (p.Arg577Leu) single nucleotide variant Pathogenic rs121918183 GRCh37 Chromosome 7, 65429369: 65429369
20 GUSB NM_000181.3(GUSB): c.1730G> T (p.Arg577Leu) single nucleotide variant Pathogenic rs121918183 GRCh38 Chromosome 7, 65964382: 65964382
21 GUSB NM_000181.3(GUSB): c.1391+618_1391+619delTC deletion Pathogenic rs786200863 GRCh37 Chromosome 7, 65438663: 65438664
22 GUSB NM_000181.3(GUSB): c.1391+618_1391+619delTC deletion Pathogenic rs786200863 GRCh38 Chromosome 7, 65973676: 65973677
23 GUSB NM_000181.3(GUSB): c.1338G> A (p.Trp446Ter) single nucleotide variant Pathogenic rs121918180 GRCh37 Chromosome 7, 65439335: 65439335
24 GUSB NM_000181.3(GUSB): c.1338G> A (p.Trp446Ter) single nucleotide variant Pathogenic rs121918180 GRCh38 Chromosome 7, 65974348: 65974348
25 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh37 Chromosome 7, 65444769: 65444769
26 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh38 Chromosome 7, 65979782: 65979782
27 GUSB NM_000181.3(GUSB): c.1050G> C (p.Lys350Asn) single nucleotide variant Pathogenic rs121918182 GRCh37 Chromosome 7, 65439921: 65439921
28 GUSB NM_000181.3(GUSB): c.1050G> C (p.Lys350Asn) single nucleotide variant Pathogenic rs121918182 GRCh38 Chromosome 7, 65974934: 65974934
29 GUSB NM_000181.3(GUSB): c.1881G> T (p.Trp627Cys) single nucleotide variant Pathogenic rs121918184 GRCh37 Chromosome 7, 65425959: 65425959
30 GUSB NM_000181.3(GUSB): c.1881G> T (p.Trp627Cys) single nucleotide variant Pathogenic rs121918184 GRCh38 Chromosome 7, 65960972: 65960972
31 GUSB NM_000181.3(GUSB): c.1069C> T (p.Arg357Ter) single nucleotide variant Likely pathogenic rs121918185 GRCh37 Chromosome 7, 65439688: 65439688
32 GUSB NM_000181.3(GUSB): c.1069C> T (p.Arg357Ter) single nucleotide variant Likely pathogenic rs121918185 GRCh38 Chromosome 7, 65974701: 65974701
33 GUSB NM_000181.3(GUSB): c.1084G> A (p.Asp362Asn) single nucleotide variant Pathogenic rs398123234 GRCh37 Chromosome 7, 65439673: 65439673
34 GUSB NM_000181.3(GUSB): c.1084G> A (p.Asp362Asn) single nucleotide variant Pathogenic rs398123234 GRCh38 Chromosome 7, 65974686: 65974686
35 GUSB NM_000181.3(GUSB): c.866G> A (p.Trp289Ter) single nucleotide variant Pathogenic rs398123238 GRCh37 Chromosome 7, 65441048: 65441048
36 GUSB NM_000181.3(GUSB): c.866G> A (p.Trp289Ter) single nucleotide variant Pathogenic rs398123238 GRCh38 Chromosome 7, 65976061: 65976061
37 GUSB NM_000181.3(GUSB): c.530C> T (p.Thr177Ile) single nucleotide variant Pathogenic rs587779400 GRCh37 Chromosome 7, 65444765: 65444765
38 GUSB NM_000181.3(GUSB): c.530C> T (p.Thr177Ile) single nucleotide variant Pathogenic rs587779400 GRCh38 Chromosome 7, 65979778: 65979778
39 GUSB NM_000181.3(GUSB): c.1534G> A (p.Gly512Arg) single nucleotide variant Likely pathogenic rs794726973 GRCh37 Chromosome 7, 65432837: 65432837
40 GUSB NM_000181.3(GUSB): c.1534G> A (p.Gly512Arg) single nucleotide variant Likely pathogenic rs794726973 GRCh38 Chromosome 7, 65967850: 65967850
41 GUSB NM_000181.3(GUSB): c.678C> T (p.Thr226=) single nucleotide variant Conflicting interpretations of pathogenicity rs537957979 GRCh37 Chromosome 7, 65444432: 65444432
42 GUSB NM_000181.3(GUSB): c.678C> T (p.Thr226=) single nucleotide variant Conflicting interpretations of pathogenicity rs537957979 GRCh38 Chromosome 7, 65979445: 65979445
43 GUSB NM_000181.3(GUSB): c.1834delC (p.Gln612Argfs) deletion Uncertain significance rs1085307069 GRCh37 Chromosome 7, 65426006: 65426006
44 GUSB NM_000181.3(GUSB): c.1834delC (p.Gln612Argfs) deletion Uncertain significance rs1085307069 GRCh38 Chromosome 7, 65961019: 65961019
45 GUSB NM_000181.3(GUSB): c.959A> C (p.Tyr320Ser) single nucleotide variant Likely pathogenic rs886044680 GRCh37 Chromosome 7, 65440012: 65440012
46 GUSB NM_000181.3(GUSB): c.959A> C (p.Tyr320Ser) single nucleotide variant Likely pathogenic rs886044680 GRCh38 Chromosome 7, 65975025: 65975025
47 GUSB NM_000181.3(GUSB): c.*208T> C single nucleotide variant Uncertain significance rs190201470 GRCh37 Chromosome 7, 65425676: 65425676
48 GUSB NM_000181.3(GUSB): c.*208T> C single nucleotide variant Uncertain significance rs190201470 GRCh38 Chromosome 7, 65960689: 65960689
49 GUSB NM_000181.3(GUSB): c.1193G> A (p.Arg398His) single nucleotide variant Uncertain significance rs776843811 GRCh38 Chromosome 7, 65974577: 65974577
50 GUSB NM_000181.3(GUSB): c.1193G> A (p.Arg398His) single nucleotide variant Uncertain significance rs776843811 GRCh37 Chromosome 7, 65439564: 65439564

Expression for Mucopolysaccharidosis, Type Vii

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

Pathways for Mucopolysaccharidosis, Type Vii

Pathways related to Mucopolysaccharidosis, Type Vii according to KEGG:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

Pathways related to Mucopolysaccharidosis, Type Vii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 GALNS GLB1 GUSB HEXA IDUA MANBA
2
Show member pathways
12.38 GLB1 GUSB HEXA IDUA MANBA SGSH
3
Show member pathways
12.16 GLB1 GUSB HEXA IDUA SGSH
4 11.59 GALNS GLB1 GUSB HEXA IDUA MANBA
5
Show member pathways
11.38 GLB1 HEXA
6
Show member pathways
10.85 GLB1 HEXA
7 10.75 GLB1 HEXA MANBA
8
Show member pathways
10.4 GALNS GLB1 GUSB HEXA IDUA SGSH

GO Terms for Mucopolysaccharidosis, Type Vii

Cellular components related to Mucopolysaccharidosis, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.7 GALNS GLB1 GUSB HEXA IDUA IGF2
2 lysosome GO:0005764 9.5 GALNS GLB1 GUSB HEXA IDUA MANBA
3 azurophil granule lumen GO:0035578 9.43 GALNS GLB1 GUSB
4 lysosomal lumen GO:0043202 9.17 GALNS GLB1 GUSB HEXA IDUA MANBA

Biological processes related to Mucopolysaccharidosis, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.67 GALNS GLB1 GUSB MANBA
2 glycosaminoglycan catabolic process GO:0006027 9.46 GLB1 GUSB IDUA SGSH
3 glycosphingolipid metabolic process GO:0006687 9.43 GLB1 HEXA
4 keratan sulfate catabolic process GO:0042340 9.43 GALNS GLB1 HEXA
5 carbohydrate metabolic process GO:0005975 9.43 GLB1 GUSB HEXA IDUA IGF2 MANBA
6 hyaluronan catabolic process GO:0030214 9.4 GUSB HEXA
7 chondroitin sulfate catabolic process GO:0030207 9.32 HEXA IDUA
8 metabolic process GO:0008152 9.17 GALNS GLB1 GUSB HEXA IDUA MANBA

Molecular functions related to Mucopolysaccharidosis, Type Vii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 GALNS GLB1 GUSB HEXA IDUA MANBA
2 sulfuric ester hydrolase activity GO:0008484 9.26 GALNS SGSH
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GLB1 GUSB IDUA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 GLB1 GUSB HEXA IDUA MANBA

Sources for Mucopolysaccharidosis, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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