MCID: MCP003
MIFTS: 63

Mucopolysaccharidosis Vii

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

Aliases & Classifications for Mucopolysaccharidosis Vii

MalaCards integrated aliases for Mucopolysaccharidosis Vii:

Name: Mucopolysaccharidosis Vii 54 12 25 13 42 69
Mucopolysaccharidosis Type Vii 50 24 25 56 71 29 52
Beta-Glucuronidase Deficiency 12 50 24 25 56 71
Sly Syndrome 12 50 24 25 71 14
Mps Vii 50 24 25 71
Gusb Deficiency 50 25 71
Mps7 25 56 71
Mucopolysaccharidosis Type 7 50 56
Mucopolysaccharidosis 7 25 71
Deficiency of Beta-Glucuronidase 12
Glucuronidase Deficiency Mps 24
Mps Vii - Sly Syndrome 12
Glucuronidase, Beta- 13
Sly Disease 56
Mpsvii 56
Mps 7 50
Sle 3

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive

Miscellaneous:
wide spectrum of severity


HPO:

32
mucopolysaccharidosis vii:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis Vii

OMIM : 54
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)

MalaCards based summary : Mucopolysaccharidosis Vii, also known as mucopolysaccharidosis type vii, is related to systemic lupus erythematosus and lupus erythematosus, and has symptoms including scoliosis, recurrent respiratory infections and umbilical hernia. An important gene associated with Mucopolysaccharidosis Vii is GUSB (Glucuronidase Beta), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Hydrogen peroxide and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and brain, and related phenotypes are behavior/neurological and cellular

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on mucopolysaccharidosis.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Mucopolysaccharidosis Vii

Diseases in the Mucopolysaccharidosis Ih family:

Mucopolysaccharidosis Type Ivb Mucopolysaccharidosis Type Ix
Mucopolysaccharidosis is Mucopolysaccharidosis Ih/s
Mucopolysaccharidosis Type Vi Mucopolysaccharidosis Vii
Mucopolysaccharidosis Type Iiic Mucopolysaccharidosis Type Iiid
Mucopolysaccharidosis-Plus Syndrome Mucopolysaccharidosis Iva
Mucopolysaccharidosis Type Iiib Mucopolysaccharidosis Type Iiia
Mucopolysaccharidosis Ii Mucopolysaccharidosis Iii
Mucopolysaccharidosis Iv Mucopolysaccharidosis Type 2, Severe Form

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 systemic lupus erythematosus 11.9
2 lupus erythematosus 11.6
3 c1q deficiency 11.4
4 pediatric systemic lupus erythematosus 11.1
5 systemic lupus erythematosus 16 10.9
6 drug-induced lupus erythematosus 10.9
7 neonatal lupus erythematosus 10.9
8 neonatal systemic lupus erythematosus 10.8
9 macrophage activation syndrome 10.7
10 chilblain lupus 2 10.7
11 chilblain lupus 10.7
12 myopathy - thyrotoxic 10.3 GUSB IDUA
13 facial paralysis 10.2 GLA GUSB
14 hepatitis 10.0
15 hydrops fetalis 10.0
16 ependymoblastoma 10.0 GLA MANBA
17 aspiration pneumonitis 10.0 GLB1 MANBA
18 immune hydrops fetalis 9.9
19 neuronitis 9.9
20 arthritis 9.9
21 connective tissue disease 9.8
22 endotheliitis 9.8
23 atherosclerosis 9.8
24 rheumatoid arthritis 9.8
25 antiphospholipid syndrome 9.8
26 glomerulonephritis 9.8
27 hemolytic anemia 9.8
28 myelitis 9.8
29 mucolipidosis ii alpha/beta 9.8 GALNS GUSB
30 petrositis 9.7 GLB1 HEXA
31 central nervous system disease 9.7
32 c3 deficiency 9.7
33 retinitis 9.7
34 mitral valve disease 9.7
35 cartilage disease 9.7
36 leukemia 9.7
37 nervous system disease 9.7
38 lysosomal storage disease 9.7
39 complement deficiency 9.7
40 vasculitis 9.7
41 prolidase deficiency 9.7 HEXA MANBA
42 muscle disorders 9.7 GALNS GLB1
43 aspartylglucosaminuria 9.7
44 metachromatic leukodystrophy 9.7
45 adrenoleukodystrophy 9.7
46 fucosidosis 9.7
47 gaucher disease, type iii 9.7
48 mixed connective tissue disease 9.7
49 lymphopenia 9.7
50 discoid lupus erythematosus 9.7

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



Diseases related to Mucopolysaccharidosis Vii

Symptoms & Phenotypes for Mucopolysaccharidosis Vii

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Face:
coarse facies

Skin Nails & Hair- Hair:
hirsutism

Abdomen- Liver:
hepatomegaly

Head And Neck- Ears:
hearing loss

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

Head And Neck- Head:
macrocephaly

Skeletal- Feet:
metatarsus adductus

Growth- Other:
postnatal growth deficiency

Cardiovascular- Heart:
valvular heart disease

Skeletal- Pelvis:
acetabular dysplasia
narrow sciatic notches

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

Skeletal- Limbs:
joint contractures

Neurologic- Central Nervous System:
mental retardation
hydrocephalus
neurodegeneration

Abdomen- External Features:
umbilical hernia
inguinal hernia

Abdomen- Spleen:
splenomegaly

Skeletal- Spine:
platyspondyly
odontoid hypoplasia
thoracolumbar gibbus
anterior beaking of lower thoracic and lumbar vertebrae

Head And Neck- Neck:
short neck

Prenatal Manifestations:
hydrops fetalis

Skeletal- Skull:
j-shaped sella turcica

Head And Neck- Eyes:
variable degree of corneal opacities

Skeletal:
dyostosis multiplex

Skeletal- Hands:
pointed proximal metacarpals


Clinical features from OMIM:

253220

Human phenotypes related to Mucopolysaccharidosis Vii:

56 32 (show all 47)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 recurrent respiratory infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0002205
3 umbilical hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001537
4 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
5 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 short neck 56 32 occasional (7.5%) Occasional (29-5%) HP:0000470
7 inguinal hernia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000023
8 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
9 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
10 flat face 56 32 hallmark (90%) Very frequent (99-80%) HP:0012368
11 hydrops fetalis 56 32 frequent (33%) Frequent (79-30%) HP:0001789
12 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
13 ascites 56 32 hallmark (90%) Very frequent (99-80%) HP:0001541
14 metatarsus adductus 56 32 frequent (33%) Frequent (79-30%) HP:0001840
15 lymphedema 56 32 hallmark (90%) Very frequent (99-80%) HP:0001004
16 corneal opacity 56 32 hallmark (90%) Very frequent (99-80%) HP:0007957
17 arteriovenous malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0100026
18 diaphyseal thickening 56 32 hallmark (90%) Very frequent (99-80%) HP:0005019
19 epiphyseal stippling 56 32 frequent (33%) Frequent (79-30%) HP:0010655
20 anterior beaking of lumbar vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0008430
21 mucopolysacchariduria 56 32 frequent (33%) Frequent (79-30%) HP:0008155
22 hepatitis 56 32 frequent (33%) Frequent (79-30%) HP:0012115
23 abnormality of the hip bone 56 32 frequent (33%) Frequent (79-30%) HP:0003272
24 abnormality of the pleura 56 32 hallmark (90%) Very frequent (99-80%) HP:0002103
25 anterior beaking of lower thoracic vertebrae 56 32 hallmark (90%) Very frequent (99-80%) HP:0004607
26 enlarged thorax 56 32 occasional (7.5%) Occasional (29-5%) HP:0100625
27 short stature 32 HP:0004322
28 hirsutism 32 HP:0001007
29 hepatomegaly 32 HP:0002240
30 hydrocephalus 32 HP:0000238
31 dysostosis multiplex 32 HP:0000943
32 platyspondyly 32 HP:0000926
33 pectus carinatum 32 HP:0000768
34 macrocephaly 32 HP:0000256
35 postnatal growth retardation 32 HP:0008897
36 neurodegeneration 32 HP:0002180
37 j-shaped sella turcica 32 HP:0002680
38 dermatan sulfate excretion in urine 32 HP:0008301
39 hearing impairment 32 HP:0000365
40 acetabular dysplasia 32 HP:0008807
41 thoracolumbar kyphosis 32 HP:0005619
42 flexion contracture 32 HP:0001371
43 abnormality of the heart valves 32 HP:0001654
44 hypoplasia of the odontoid process 32 HP:0003311
45 narrow greater sacrosciatic notches 32 HP:0003375
46 urinary glycosaminoglycan excretion 32 HP:0003541
47 proximal tapering of metacarpals 32 HP:0006119

MGI Mouse Phenotypes related to Mucopolysaccharidosis Vii:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.88 GLA GLB1 GUSB HEXA IDUA MANBA
2 cellular MP:0005384 9.85 GALNS GLA GLB1 GUSB IDUA MANBA
3 homeostasis/metabolism MP:0005376 9.8 GALNS GLA GLB1 GUSB HEXA IDUA
4 renal/urinary system MP:0005367 9.7 HEXA IDUA MANBA GALNS GLA GLB1
5 liver/biliary system MP:0005370 9.65 GLA GLB1 HEXA IDUA MANBA
6 reproductive system MP:0005389 9.35 GLB1 GUSB HEXA IDUA MANBA
7 skeleton MP:0005390 9.02 HEXA IDUA GALNS GLB1 GUSB

Drugs & Therapeutics for Mucopolysaccharidosis Vii

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

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

Interventional clinical trials:

(show all 12)

id 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 rhGUS Enzyme Replacement Therapy in Patients With 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 MPS 7 Completed NCT01856218 Phase 1, Phase 2 UX003
5 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)
6 An Open-Label Study of UX003-rhGUS Enzyme Replacement Treatment in MPS 7 Patients Less Than 5 Years of Age Active, not recruiting NCT02418455 Phase 2 UX003
7 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
8 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
9 Biomarker for Sly Disease Recruiting NCT02298699
10 Longitudinal Studies of Brain Structure and Function in MPS Disorders Recruiting NCT01870375
11 New Imaging Technology to Assess Effect of Enzyme Replacment Therapy on Eye Disease Progession in Mucopolysacchardiosis Recruiting NCT02583152
12 An Open-Label Treatment Protocol With UX003 rhGUS Enzyme Replacement Therapy for an Advanced Stage MPS 7 Patient No longer available NCT02097251 UX003

Search NIH Clinical Center for Mucopolysaccharidosis Vii

Cochrane evidence based reviews: mucopolysaccharidosis vii

Genetic Tests for Mucopolysaccharidosis Vii

Genetic tests related to Mucopolysaccharidosis Vii:

id Genetic test Affiliating Genes
1 Mucopolysaccharidosis Type Vii 29 24 GUSB

Anatomical Context for Mucopolysaccharidosis Vii

MalaCards organs/tissues related to Mucopolysaccharidosis Vii:

39
Bone, Heart, Brain, Eye, Bone Marrow, Liver, Spleen

Publications for Mucopolysaccharidosis Vii

Articles related to Mucopolysaccharidosis Vii:

(show top 50) (show all 71)
id Title Authors Year
1
Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis. ( 28702876 )
2017
2
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII. ( 28207930 )
2017
3
Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene. ( 26118695 )
2015
4
Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII. ( 26447927 )
2015
5
The effect of Tlr4 and/or C3 deficiency and of neonatal gene therapy on skeletal disease in mucopolysaccharidosis VII mice. ( 25559179 )
2015
6
Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs. ( 26422116 )
2015
7
Corrective GUSB transfer to the canine mucopolysaccharidosis VII cornea using a helper-dependent canine adenovirus vector. ( 24607662 )
2014
8
High-Resolution Magnetic Resonance Microscopy and Diffusion Tensor Imaging to Assess Brain Structural Abnormalities in the Murine Mucopolysaccharidosis VII Model. ( 24335527 )
2014
9
Transplantation of human umbilical mesenchymal stem cells cures the corneal defects of mucopolysaccharidosis VII mice. ( 23897660 )
2013
10
Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs. ( 23856419 )
2013
11
The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade. ( 23860311 )
2013
12
Corrective GUSB Transfer to the Canine Mucopolysaccharidosis VII Brain. ( 24343103 )
2013
13
The effect of neonatal gene therapy on skeletal manifestations in mucopolysaccharidosis VII dogs after a decade. ( 23628461 )
2013
14
Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model. ( 22902520 )
2012
15
Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII. ( 23027951 )
2012
16
A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII. ( 22815736 )
2012
17
Effect of neonatal gene therapy on lumbar spine disease in mucopolysaccharidosis VII dogs. ( 22510705 )
2012
18
Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII. ( 22513347 )
2012
19
Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation. ( 21944884 )
2011
20
Mechanism of shortened bones in mucopolysaccharidosis VII. ( 19375967 )
2009
21
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). ( 19224584 )
2009
22
Infused Fc-tagged beta-glucuronidase crosses the placenta and produces clearance of storage in utero in mucopolysaccharidosis VII mice. ( 18544647 )
2008
23
Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. ( 18268347 )
2008
24
Expression in blood cells may contribute to biochemical and pathological improvements after neonatal intravenous gene therapy for mucopolysaccharidosis VII in dogs. ( 16275036 )
2006
25
Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors. ( 17015822 )
2006
26
Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII. ( 16162667 )
2005
27
Coarctation of the thoraco-abdominal aorta associated with mucopolysaccharidosis VII in a child. ( 16039246 )
2005
28
Neonatal retroviral vector-mediated hepatic gene therapy reduces bone, joint, and cartilage disease in mucopolysaccharidosis VII mice and dogs. ( 15110316 )
2004
29
Gene therapy ameliorates cardiovascular disease in dogs with mucopolysaccharidosis VII. ( 15289379 )
2004
30
Long-term normalization in the central nervous system, ocular manifestations, and skeletal deformities by a single systemic adenovirus injection into neonatal mice with mucopolysaccharidosis VII. ( 12601395 )
2003
31
A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis. ( 12748853 )
2003
32
Intravitreal gene therapy reduces lysosomal storage in specific areas of the CNS in mucopolysaccharidosis VII mice. ( 12716937 )
2003
33
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. ( 12859417 )
2003
34
Inner ear pathology in the mucopolysaccharidosis VII mouse. ( 12121741 )
2002
35
Evaluation of pathological manifestations of disease in mucopolysaccharidosis VII mice after neonatal hepatic gene therapy. ( 12498771 )
2002
36
Mucopolysaccharidosis VII (Sly disease) as a cause of increased nuchal translucency and non-immune fetal hydrops: study of a family and technical approach to prenatal diagnosis in early and late pregnancy. ( 12116312 )
2002
37
Selective neurodegeneration in murine mucopolysaccharidosis VII is progressive and reversible. ( 12447930 )
2002
38
Transduction of hepatocytes after neonatal delivery of a Moloney murine leukemia virus based retroviral vector results in long-term expression of beta-glucuronidase in mucopolysaccharidosis VII dogs. ( 11829521 )
2002
39
Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. ( 12232044 )
2002
40
Biodistribution, kinetics, and efficacy of highly phosphorylated and non-phosphorylated beta-glucuronidase in the murine model of mucopolysaccharidosis VII. ( 11562370 )
2001
41
Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. ( 11044913 )
2000
42
Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII. ( 10871735 )
2000
43
Adenovirus-mediated gene therapy for mucopolysaccharidosis VII: involvement of cross-correction in wide-spread distribution of the gene products and long-term effects of CTLA-4Ig coexpression. ( 10933961 )
2000
44
Delivery of a retroviral vector expressing human beta-glucuronidase to the liver and spleen decreases lysosomal storage in mucopolysaccharidosis VII mice. ( 10985954 )
2000
45
Gene transfer of low levels of beta-glucuronidase corrects hepatic lysosomal storage in a large animal model of mucopolysaccharidosis VII. ( 11124056 )
2000
46
Mucopolysaccharidosis VII in a cat. ( 11055883 )
2000
47
Biochemical basis of the beta-glucuronidase gene defect causing canine mucopolysaccharidosis VII. ( 9987917 )
1999
48
Single cell analysis and selection of living retrovirus vector-corrected mucopolysaccharidosis VII cells using a fluorescence-activated cell sorting-based assay for mammalian beta-glucuronidase enzymatic activity. ( 9872999 )
1999
49
Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII. ( 10366443 )
1999
50
Sustained production of beta-glucuronidase from localized sites after AAV vector gene transfer results in widespread distribution of enzyme and reversal of lysosomal storage lesions in a large volume of brain in mucopolysaccharidosis VII mice. ( 10630187 )
1999

Variations for Mucopolysaccharidosis Vii

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

71 (show all 36)
id 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
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 Vii:

6 (show all 21)
id 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.1144C> T (p.Arg382Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918173 GRCh37 Chromosome 7, 65439613: 65439613
3 GUSB NM_000181.3(GUSB): c.646C> T (p.Arg216Trp) single nucleotide variant Pathogenic rs121918174 GRCh37 Chromosome 7, 65444464: 65444464
4 GUSB NM_000181.3(GUSB): c.1061C> T (p.Ala354Val) single nucleotide variant Pathogenic rs121918175 GRCh37 Chromosome 7, 65439910: 65439910
5 GUSB NM_000181.3(GUSB): c.1831C> T (p.Arg611Trp) single nucleotide variant Pathogenic rs121918176 GRCh37 Chromosome 7, 65426009: 65426009
6 GUSB NM_000181.3(GUSB): c.442C> T (p.Pro148Ser) single nucleotide variant Pathogenic rs121918177 GRCh37 Chromosome 7, 65444853: 65444853
7 GUSB NM_000181.3(GUSB): c.1484A> G (p.Tyr495Cys) single nucleotide variant Pathogenic rs121918178 GRCh37 Chromosome 7, 65432887: 65432887
8 GUSB NM_000181.3(GUSB): c.1521G> A (p.Trp507Ter) single nucleotide variant Pathogenic rs121918179 GRCh37 Chromosome 7, 65432850: 65432850
9 GUSB NM_000181.3(GUSB): c.1616_1653del38 (p.Ser539Argfs*8) single nucleotide variant Pathogenic rs377519272 GRCh37 Chromosome 7, 65432754: 65432754
10 GUSB NM_000181.3(GUSB): c.1730G> T (p.Arg577Leu) single nucleotide variant Pathogenic rs121918183 GRCh37 Chromosome 7, 65429369: 65429369
11 GUSB NM_000181.3(GUSB): c.1391+618_1391+619delTC deletion Pathogenic rs786200863 GRCh37 Chromosome 7, 65438663: 65438664
12 GUSB NM_000181.3(GUSB): c.1338G> A (p.Trp446Ter) single nucleotide variant Pathogenic rs121918180 GRCh37 Chromosome 7, 65439335: 65439335
13 GUSB NM_000181.3(GUSB): c.526C> T (p.Leu176Phe) single nucleotide variant Pathogenic rs121918181 GRCh37 Chromosome 7, 65444769: 65444769
14 GUSB NM_000181.3(GUSB): c.1050G> C (p.Lys350Asn) single nucleotide variant Pathogenic rs121918182 GRCh37 Chromosome 7, 65439921: 65439921
15 GUSB NM_000181.3(GUSB): c.1881G> T (p.Trp627Cys) single nucleotide variant Pathogenic rs121918184 GRCh37 Chromosome 7, 65425959: 65425959
16 GUSB NM_000181.3(GUSB): c.1069C> T (p.Arg357Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121918185 GRCh37 Chromosome 7, 65439688: 65439688
17 GUSB NM_000181.3(GUSB): c.1084G> A (p.Asp362Asn) single nucleotide variant Pathogenic rs398123234 GRCh37 Chromosome 7, 65439673: 65439673
18 GUSB NM_000181.3(GUSB): c.866G> A (p.Trp289Ter) single nucleotide variant Pathogenic rs398123238 GRCh37 Chromosome 7, 65441048: 65441048
19 GUSB NM_000181.3(GUSB): c.530C> T (p.Thr177Ile) single nucleotide variant Pathogenic rs587779400 GRCh37 Chromosome 7, 65444765: 65444765
20 GUSB NM_000181.3(GUSB): c.1534G> A (p.Gly512Arg) single nucleotide variant Likely pathogenic rs794726973 GRCh37 Chromosome 7, 65432837: 65432837
21 GUSB NM_000181.3(GUSB): c.959A> C (p.Tyr320Ser) single nucleotide variant Likely pathogenic rs886044680 GRCh37 Chromosome 7, 65440012: 65440012

Expression for Mucopolysaccharidosis Vii

Search GEO for disease gene expression data for Mucopolysaccharidosis Vii.

Pathways for Mucopolysaccharidosis Vii

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

(show all 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 GALNS GLA GLB1 GUSB HEXA IDUA
2
Show member pathways
12.41 GLB1 GUSB HEXA IDUA MANBA
3
Show member pathways
12.13 GLB1 GUSB HEXA IDUA
4
Show member pathways
12.01 GLA GLB1 HEXA
5
Show member pathways
11.58 GLA GLB1
6
Show member pathways
11.42 GLB1 HEXA
7 11.26 GALNS GLA GLB1 GUSB HEXA IDUA
8
Show member pathways
11.02 GLA HEXA
9
Show member pathways
10.85 GLB1 HEXA
10
Show member pathways
10.65 GALNS GLB1 GUSB HEXA IDUA
11 10.59 GLB1 HEXA MANBA

GO Terms for Mucopolysaccharidosis Vii

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 GALNS GLA GLB1 GUSB HEXA IDUA
2 lysosome GO:0005764 9.5 GALNS GLA GLB1 GUSB HEXA IDUA
3 azurophil granule lumen GO:0035578 9.46 GALNS GLA GLB1 GUSB
4 ficolin-1-rich granule lumen GO:1904813 9.32 GLB1 GUSB
5 lysosomal lumen GO:0043202 9.17 GALNS GLA GLB1 GUSB HEXA IDUA

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

id Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.72 GALNS GLA GLB1 GUSB MANBA
2 glycosphingolipid metabolic process GO:0006687 9.54 GLA GLB1 HEXA
3 hyaluronan catabolic process GO:0030214 9.43 GUSB HEXA
4 glycosaminoglycan catabolic process GO:0006027 9.43 GLB1 GUSB IDUA
5 carbohydrate metabolic process GO:0005975 9.43 GLA GLB1 GUSB HEXA IDUA MANBA
6 chondroitin sulfate catabolic process GO:0030207 9.4 HEXA IDUA
7 keratan sulfate catabolic process GO:0042340 9.33 GALNS GLB1 HEXA
8 metabolic process GO:0008152 9.17 GALNS GLA GLB1 GUSB HEXA IDUA

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.7 GALNS GLA GLB1 GUSB HEXA IDUA
2 receptor binding GO:0005102 9.5 GLA GUSB IDUA
3 galactoside binding GO:0016936 9.26 GLA GLB1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 GLA GLB1 IDUA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.1 GLA GLB1 GUSB HEXA IDUA MANBA

Sources for Mucopolysaccharidosis Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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