MPS7
MCID: MCP049
MIFTS: 62

Mucopolysaccharidosis, Type Vii (MPS7)

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

Aliases & Classifications for Mucopolysaccharidosis, Type Vii

MalaCards integrated aliases for Mucopolysaccharidosis, Type Vii:

Name: Mucopolysaccharidosis, Type Vii 57
Mucopolysaccharidosis Type Vii 20 43 58 72 36 54 39
Sly Syndrome 57 12 73 20 43 72 15
Beta-Glucuronidase Deficiency 57 12 20 43 58 72
Mucopolysaccharidosis Vii 57 12 43 13 44 70
Mucopolysaccharidosis Type 7 20 58 29 6
Gusb Deficiency 57 20 43 72
Mps Vii 57 20 43 72
Mps7 57 43 58 72
Mucopolysaccharidosis 7 43 72
Deficiency of Beta-Glucuronidase 12
Mps Vii - Sly Syndrome 12
Sly Disease 58
Mpsvii 58
Mps 7 20
Sl 17

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
wide spectrum of severity


HPO:

31
mucopolysaccharidosis, type vii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mucopolysaccharidosis, Type Vii

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 584 Definition A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature ), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease. Epidemiology The prevalence at birth is reported to range between 1/345,000 -5,000,000. However, the frequency of the disease may be underestimated as the most frequent presentation is the antenatal form, which remains underdiagnosed. Clinical description Signs are extremely variable: there are prenatal forms with non-immune hydrops fetalis, and severe neonatal forms with dysmorphism, hernias, hepatosplenomegaly, club feet, dysostosis, small stature and severe hypotonia and neurological involvement that ultimately lead to profound intellectual deficit in patients who survive. At the other end of the spectrum, there are very mild cases that are discovered during adolescence or adulthood following presentation with thoracic kyphosis. Etiology Mutations in the gene GUSB (7q11.21) causes beta-D-glucuronidase deficiency, which leads to accumulation of several glycosaminoglycans (dermatan sulfate (DS), heparan sulfate (HS), and chondroitin sulfate (CS)) in lysosomes. Diagnostic methods Diagnosis is supported by x-ray evidence of dysostosis multiplex and 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 diagnosis Differential diagnosis includes other types of mucopolysaccharidosis (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 performed accurately. Antenatal diagnosis Diagnosis is possible in forms with in utero presentation and may prevent recurrence of pregnancies leading to in utero death or late termination of the pregnancy. Prenatal diagnosis (by molecular analysis or measurement of enzyme activity in trophoblasts or amniocytes ) can be offered to parents with an affected child. Parents should be made aware of the availability of enzyme replacement therapy (ERT). Genetic counseling Transmission is autosomal recessive. Management and treatment ERT with recombinant human beta-glucuronidase has been approved in Europe and the USA for MPS type 7, and has shown improvement in walking, lung function and hepatosplenomegaly in clinical trials. Still, multidisciplinary management allows adapted symptomatic treatment, which is essential for improving the quality of life of the patients. In late-onset forms, treatment is mainly orthopedic. Bone marrow transplantation has been successful in three of five patients. Prognosis Prognosis is typically poor for antenatal forms, often leading to death in utero. Neonatal and childhood forms typically have a very limited life expectancy, whereas milder forms have a prolonged survival. Whilst ERT is now available, long term outcome data are not yet available on the ERT treated patients.

MalaCards based summary : Mucopolysaccharidosis, Type Vii, also known as mucopolysaccharidosis type vii, is related to mucopolysaccharidoses and gaucher's disease. 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 Pharmaceutical Solutions and Mesna have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and bone marrow, and related phenotypes are intellectual disability and scoliosis

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.

MedlinePlus Genetics : 43 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.The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VII, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) becomes cloudy, which can cause significant vision loss. People with MPS VII may also have recurrent ear infections and hearing loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition.MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VII and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VII may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood. Heart disease and airway obstruction are major causes of death in people with MPS VII.

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) (Updated 05-Apr-2021)

KEGG : 36 Mucopolysaccharidosis type VII (MPS7) is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucuronidase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate occurs in many organs, as well as elevated metabolite levels in urine. This disorder is characterized by mental retardation, coarse faces, dysostosis multiplex, hepatosplenomegaly, and hydrops fetails.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Sly syndrome, also called mucopolysaccharidosis type VII (MPS-VII), 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

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

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidoses 29.9 SGSH NAGLU IDUA HGSNAT GUSB ARSB
2 gaucher's disease 29.8 M6PR IDUA GUSB ARSA
3 mucopolysaccharidosis-plus syndrome 29.0 TPP1 SGSH NAGLU M6PR IDUA IDS
4 mucopolysaccharidosis, type vi 28.3 NAGLU M6PR IDUA IDS HGSNAT GUSB
5 lysosomal storage disease 27.7 TPP1 SGSH NAGLU MANBA M6PR IDUA
6 hydrops fetalis, nonimmune 10.6
7 lymphatic malformation 7 10.6
8 immune hydrops fetalis 10.4
9 branchiootic syndrome 1 10.2
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
11 mongolian spot 10.2 NAGLU IDUA
12 morquio syndrome 10.2 GUSB GALNS
13 herpes simplex 10.1
14 nervous system disease 10.1
15 umbilical hernia 10.1 IGF2 IDUA ARSB
16 mitral valve disease 10.1
17 lysosomal disease 10.1
18 osteochondrosis 10.1 IGF2 GALNS
19 glycoproteinosis 10.0 GALNS ARSB
20 fabry disease 10.0 M6PR GUSB ARSA
21 galactosialidosis 10.0 M6PR IDUA GALNS
22 leukoplakia 10.0
23 mannosidosis, beta a, lysosomal 10.0 MANBA HGSNAT
24 aortic valve disease 1 10.0
25 breast cancer 10.0
26 cardiac conduction defect 10.0
27 factor viii deficiency 10.0
28 spondyloepiphyseal dysplasia with congenital joint dislocations 10.0
29 otitis media 10.0
30 odontochondrodysplasia 10.0
31 taurodontism 10.0
32 hemophilia a 10.0
33 autosomal recessive disease 10.0
34 inguinal hernia 10.0
35 mitral valve insufficiency 10.0
36 clubfoot 10.0
37 dilated cardiomyopathy 10.0
38 cholestasis 10.0
39 mitral valve stenosis 10.0
40 dysostosis 10.0
41 glycogen storage disease 10.0
42 central nervous system disease 10.0
43 inherited metabolic disorder 10.0
44 retinal degeneration 10.0
45 learning disability 10.0
46 hemophilia 10.0
47 pectus carinatum 10.0
48 lysosomal storage disease with skeletal involvement 10.0
49 kluver-bucy syndrome 10.0 SGSH NAGLU HGSNAT
50 cervical vertebral dysplasia 10.0

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



Diseases related to Mucopolysaccharidosis, Type Vii

Symptoms & Phenotypes for Mucopolysaccharidosis, Type Vii

Human phenotypes related to Mucopolysaccharidosis, Type Vii:

58 31 (show top 50) (show all 58)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 inguinal hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000023
6 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
7 umbilical hernia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001537
8 anterior beaking of lumbar vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0008430
9 lymphedema 58 31 hallmark (90%) Very frequent (99-80%) HP:0001004
10 ascites 58 31 hallmark (90%) Very frequent (99-80%) HP:0001541
11 anterior beaking of lower thoracic vertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0004607
12 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
13 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
14 abnormal pleura morphology 31 hallmark (90%) HP:0002103
15 splenomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001744
16 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
17 mucopolysacchariduria 58 31 frequent (33%) Frequent (79-30%) HP:0008155
18 abnormality of the hip bone 58 31 frequent (33%) Frequent (79-30%) HP:0003272
19 hydrops fetalis 58 31 frequent (33%) Frequent (79-30%) HP:0001789
20 metatarsus adductus 58 31 frequent (33%) Frequent (79-30%) HP:0001840
21 epiphyseal stippling 58 31 frequent (33%) Frequent (79-30%) HP:0010655
22 hepatitis 58 31 frequent (33%) Frequent (79-30%) HP:0012115
23 hypotonia 31 frequent (33%) HP:0001252
24 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
25 arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100026
26 enlarged thorax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100625
27 macrocephaly 31 HP:0000256
28 hydrocephalus 31 HP:0000238
29 muscular hypotonia 58 Frequent (79-30%)
30 hearing impairment 31 HP:0000365
31 hepatomegaly 31 HP:0002240
32 gingival overgrowth 31 HP:0000212
33 widely spaced teeth 31 HP:0000687
34 pectus carinatum 31 HP:0000768
35 thick eyebrow 31 HP:0000574
36 short stature 31 HP:0004322
37 flexion contracture 31 HP:0001371
38 dysostosis multiplex 31 HP:0000943
39 abnormal heart valve morphology 31 HP:0001654
40 recurrent upper respiratory tract infections 31 HP:0002788
41 genu valgum 31 HP:0002857
42 abnormality of the pleura 58 Very frequent (99-80%)
43 postnatal growth retardation 31 HP:0008897
44 talipes equinovarus 31 HP:0001762
45 platyspondyly 31 HP:0000926
46 cardiomyopathy 31 HP:0001638
47 hypoplasia of the odontoid process 31 HP:0003311
48 heparan sulfate excretion in urine 31 HP:0002159
49 hirsutism 31 HP:0001007
50 poor speech 31 HP:0002465

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
hydrocephalus
poor speech
neurodegeneration
mental retardation

Abdomen Spleen:
splenomegaly

Abdomen External Features:
inguinal hernia
umbilical hernia

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

Skeletal:
dysostosis multiplex

Prenatal Manifestations:
hydrops fetalis

Cardiovascular Heart:
cardiomyopathy
valvular heart disease

Skeletal Skull:
j-shaped sella turcica

Respiratory:
decreased pulmonary function
recurrent upper respiratory infections

Head And Neck Face:
coarse facies

Growth Other:
postnatal growth deficiency

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 Spine:
scoliosis
kyphosis
platyspondyly
odontoid hypoplasia
thoracolumbar gibbus
more
Head And Neck Neck:
short neck

Abdomen Liver:
hepatomegaly

Head And Neck Mouth:
widely spaced teeth
abnormal dentition
gingival hypertrophy
enlarged tongue

Growth Height:
short stature

Skeletal Limbs:
genu valgum
joint contractures

Skeletal Feet:
metatarsus adductus
talipes equinovarus

Skin Nails Hair Hair:
hirsutism

Skeletal Pelvis:
acetabular dysplasia
narrow sciatic notches

Head And Neck Ears:
hearing loss

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

Skeletal Hands:
pointed proximal metacarpals

Clinical features from OMIM®:

253220 (Updated 05-Apr-2021)

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

26 (show all 37)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 10.39 IDS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.39 GALNS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.39 IDS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-132 10.39 IGF2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.39 GALNS IDS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.39 GUSBP15 GUSBP2 ARSA
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 10.39 ARSA
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.39 IGF2 GALNS
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.39 IDS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.39 IDS
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.39 IDS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.39 GUSBP15 GUSBP2 GUSBP4 IDS
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 10.39 IDS
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.39 IDS
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.39 IGF2
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-67 10.39 IGF2
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 10.39 GUSBP15 GUSBP2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-74 10.39 IGF2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.39 GUSBP15 GUSBP2 GUSBP4 IGF2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.39 ARSA
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.39 IGF2
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.39 IDS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.87 GUSBP15 GUSBP2 GUSBP4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.87 GUSBP15 GUSBP2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.87 IDS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.87 GUSBP4
27 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.87 IDS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-182 9.87 GUSBP4
29 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.87 IDS
30 Increased shRNA abundance (Z-score > 2) GR00366-A-210 9.87 GUSBP15 GUSBP2 GUSBP4
31 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.87 IDS
32 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.87 IDS
33 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.87 GUSBP15 GUSBP2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.87 IDS
35 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.87 GUSBP4
36 Increased shRNA abundance (Z-score > 2) GR00366-A-89 9.87 GUSBP4
37 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.87 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis, Type Vii:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.32 ARSA ARSB GNS GUSB HGSNAT IDS
2 cellular MP:0005384 10.31 ARSB GALNS GNS GUSB HGSNAT IDS
3 hematopoietic system MP:0005397 10.21 ARSA ARSB GNS GUSB HGSNAT IDS
4 homeostasis/metabolism MP:0005376 10.14 ARSA ARSB GALNS GUSB HGSNAT IDS
5 craniofacial MP:0005382 10.02 ARSB GUSB IDS IDUA IGF2 NAGLU
6 nervous system MP:0003631 10 ARSA ARSB GNS HGSNAT IDS IDUA
7 hearing/vestibular/ear MP:0005377 9.93 ARSA ARSB GUSB IDS IDUA NAGLU
8 limbs/digits/tail MP:0005371 9.91 ARSB GUSB HGSNAT IDS IDUA IGF2
9 renal/urinary system MP:0005367 9.9 ARSB GALNS GUSB HGSNAT IDS IDUA
10 liver/biliary system MP:0005370 9.87 HGSNAT IDS IDUA IGF2 MANBA NAGLU
11 skeleton MP:0005390 9.65 ARSB GALNS GUSB HGSNAT IDS IDUA
12 vision/eye MP:0005391 9.23 ARSB GALNS IDS IDUA IGF2 M6PR

Drugs & Therapeutics for Mucopolysaccharidosis, Type Vii

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

(show all 38)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2
Mesna Approved, Investigational Phase 2 3375-50-6 598
3
tannic acid Approved Phase 2 1401-55-4
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Mycophenolic acid Approved Phase 2 24280-93-1 446541
6
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
7
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
8
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
9
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
10
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
11
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
12
Tocopherol Approved, Investigational Phase 2 1406-66-2
13
rituximab Approved Phase 2 174722-31-7 10201696
14
alemtuzumab Approved, Investigational Phase 2 216503-57-0
15
Busulfan Approved, Investigational Phase 2 55-98-1 2478
16
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
17
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
18 Tocotrienol Investigational Phase 2 6829-55-6
19 Antibiotics, Antitubercular Phase 2
20 Cyclosporins Phase 2
21 Anti-Infective Agents Phase 2
22 Anti-Bacterial Agents Phase 2
23 Antitubercular Agents Phase 2
24 Dermatologic Agents Phase 2
25 Antifungal Agents Phase 2
26 Calcineurin Inhibitors Phase 2
27 Alpha-lipoic Acid Phase 2
28 Vitamins Phase 2
29 Tocopherols Phase 2
30 Tocotrienols Phase 2
31 Antilymphocyte Serum Phase 2
32 N-monoacetylcystine Phase 2
33 Thioctic Acid Phase 2
34 Immunosuppressive Agents Phase 2
35 Antineoplastic Agents, Immunological Phase 2
36 Immunologic Factors Phase 2
37 Antirheumatic Agents Phase 2
38 Alkylating Agents Phase 2

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 A Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Completed NCT02432144 Phase 3 UX003
2 A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 Completed NCT02230566 Phase 3 UX003
3 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
4 An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT01856218 Phase 1, Phase 2 UX003
5 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
6 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG 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 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Hematopoietic Cell Transplantation Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
8 Longitudinal Studies of Brain Structure and Function in MPS Disorders Completed NCT01870375
9 Mucopolysaccharidosis VII Disease Monitoring Program (MPS VII DMP) Recruiting NCT03604835
10 Biomarker for Sly Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02298699
11 Expanded Access to Mepsevii Available NCT03775174 Mepsevii
12 An Open-Label Treatment Protocol With UX003 Recombinant Human Beta-glucuronidase (rhGUS) Enzyme Replacement Therapy for an Advanced Stage Mucopolysaccharidosis Type 7 (MPS 7) Patient No longer available NCT02097251 UX003

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 7 29 GUSB

Anatomical Context for Mucopolysaccharidosis, Type Vii

MalaCards organs/tissues related to Mucopolysaccharidosis, Type Vii:

40
Eye, Heart, Bone Marrow, Tongue, Spleen, Bone, Brain

Publications for Mucopolysaccharidosis, Type Vii

Articles related to Mucopolysaccharidosis, Type Vii:

(show top 50) (show all 282)
# Title Authors PMID Year
1
Mutational analysis in longest known survivor of mucopolysaccharidosis type VII. 6 57 61 54
12522561 2003
2
Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis. 61 57 6 54
12403825 2002
3
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII. 57 6 54 61
8644704 1996
4
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes. 61 54 6 57
7680524 1993
5
Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. 61 57 6 54
1702266 1991
6
Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region. 61 57 6
9099834 1997
7
Beta-glucuronidase deficiency as a cause of prenatally diagnosed non-immune hydrops fetalis. 6 57 54
1833732 1991
8
Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis. 57 6
6811712 1982
9
Beta-glucuronidase deficiency in a girl with unusual clinical features. 57 6
144057 1977
10
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome). 54 61 6
19224584 2009
11
Active site mutant transgene confers tolerance to human beta-glucuronidase without affecting the phenotype of MPS VII mice. 61 54 6
11226217 2001
12
Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling. 57 54 61
9793981 1998
13
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote. 6 61 54
9490302 1998
14
Non-immune hydrops fetalis caused by beta-glucuronidase deficiency (mucopolysaccharidosis VII). Study of a family with 3 affected siblings. 57 61 54
8831129 1996
15
Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII. 61 54 6
8111413 1993
16
Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a chronic variant with an oligosymptomatic severe skeletal dysplasia. 54 61 57
1456283 1992
17
beta-Glucuronidase deficiency as a cause of fetal hydrops. 61 54 57
1632440 1992
18
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. 57 61
29478819 2018
19
Clinical course of sly syndrome (mucopolysaccharidosis type VII). 61 57
26908836 2016
20
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy. 6 61
23777470 2013
21
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene. 6 61
9921904 1998
22
Treatment of MPS VII (Sly disease) by allogeneic BMT in a female with homozygous A619V mutation. 54 57
9543069 1998
23
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene. 6 54
7573038 1995
24
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. 6 61
7633414 1995
25
Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings. 61 6
8089138 1994
26
Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes. 6 54
8111412 1993
27
Mucopolysaccharidosis VII as cause of fetal hydrops in early pregnancy. 57 54
1456282 1992
28
Mucopolysaccharidosis type VII. A morphologic, cytochemical, and ultrastructural study of the blood and bone marrow. 61 57
6814236 1982
29
Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature. 57 61
6813001 1982
30
Expanding the phenome and variome of skeletal dysplasia. 6
29620724 2018
31
Epidemiology of mucopolysaccharidoses. 57
28595941 2017
32
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families. 6
26036949 2015
33
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. 6
12859417 2003
34
A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis. 57
12748853 2003
35
Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. 6
7633417 1995
36
Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. 6
1992472 1991
37
Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. 57
3155909 1985
38
Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy. 57
6787203 1981
39
[Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family]. 57
113502 1979
40
Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII). 57
101485 1978
41
Human beta-glucuronidase deficiency mucopolysaccharidosis: identification of cross-reactive antigen in cultured fibroblasts of deficient patients by enzyme immunoassay. 57
401508 1977
42
Variation in the phenotypic expression of beta-glucuronidase deficiency. 57
803560 1975
43
Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency. 57
4277583 1974
44
In vitro correction of deficient human fibroblasts by beta-glucuronidase from different human sources. 57
4857181 1974
45
Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis. 57
4202279 1973
46
Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis. 57
4265197 1973
47
Altered lumbar spine structure, biochemistry, and biomechanical properties in a canine model of mucopolysaccharidosis type VII. 54 61
19918911 2010
48
Human progenitor cells with high aldehyde dehydrogenase activity efficiently engraft into damaged liver in a novel model. 54 61
19437487 2009
49
Sly Disease: Mucopolysaccharidosis Type VII. 61 54
18948660 2008
50
Encapsulation cell therapy for mucopolysaccharidosis type VII using genetically engineered immortalized human amniotic epithelial cells. 61 54
16636519 2006

Variations for Mucopolysaccharidosis, Type Vii

ClinVar genetic disease variations for Mucopolysaccharidosis, Type Vii:

6 (show top 50) (show all 111)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GUSB NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) SNV Uncertain significance, other 458510 rs149606212 GRCh37: 7:65444841-65444841
GRCh38: 7:65979854-65979854
2 GUSB NC_000007.14:g.(?_65974275)_(65982203_?)del Deletion Pathogenic 583875 GRCh37: 7:65439262-65447190
GRCh38: 7:65974275-65982203
3 GUSB NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) SNV Pathogenic 893 rs121918172 GRCh37: 7:65425984-65425984
GRCh38: 7:65960997-65960997
4 GUSB NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) SNV Pathogenic 895 rs121918174 GRCh37: 7:65444464-65444464
GRCh38: 7:65979477-65979477
5 GUSB NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) SNV Pathogenic 896 rs121918175 GRCh37: 7:65439910-65439910
GRCh38: 7:65974923-65974923
6 GUSB NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) SNV Pathogenic 897 rs121918176 GRCh37: 7:65426009-65426009
GRCh38: 7:65961022-65961022
7 GUSB NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) SNV Pathogenic 898 rs121918177 GRCh37: 7:65444853-65444853
GRCh38: 7:65979866-65979866
8 GUSB NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys) SNV Pathogenic 899 rs121918178 GRCh37: 7:65432887-65432887
GRCh38: 7:65967900-65967900
9 GUSB NM_000181.4(GUSB):c.1617C>T (p.Ser539=) SNV Pathogenic 901 rs377519272 GRCh37: 7:65432754-65432754
GRCh38: 7:65967767-65967767
10 GUSB NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) SNV Pathogenic 902 rs121918183 GRCh37: 7:65429369-65429369
GRCh38: 7:65964382-65964382
11 GUSB NM_000181.4(GUSB):c.1391+618_1391+619del Deletion Pathogenic 903 rs786200863 GRCh37: 7:65438663-65438664
GRCh38: 7:65973676-65973677
12 GUSB NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter) SNV Pathogenic 904 rs121918180 GRCh37: 7:65439335-65439335
GRCh38: 7:65974348-65974348
13 GUSB NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) SNV Pathogenic 906 rs121918182 GRCh37: 7:65439921-65439921
GRCh38: 7:65974934-65974934
14 GUSB NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) SNV Pathogenic 907 rs121918184 GRCh37: 7:65425959-65425959
GRCh38: 7:65960972-65960972
15 GUSB NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) SNV Pathogenic 100722 rs587779400 GRCh37: 7:65444765-65444765
GRCh38: 7:65979778-65979778
16 GUSB NM_000181.4(GUSB):c.1868_1869GA[3] (p.Arg625fs) Microsatellite Pathogenic 633257 rs935464108 GRCh37: 7:65425965-65425966
GRCh38: 7:65960978-65960979
17 GUSB NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) SNV Pathogenic 495724 rs1434169374 GRCh37: 7:65439336-65439336
GRCh38: 7:65974349-65974349
18 GUSB NM_000181.4(GUSB):c.1244+1G>A SNV Pathogenic 975000 GRCh37: 7:65439512-65439512
GRCh38: 7:65974525-65974525
19 GUSB NC_000007.14:g.(?_65967711)_(65970386_?)del Deletion Pathogenic 832740 GRCh37: 7:65432698-65435373
GRCh38:
20 GUSB NC_000007.14:g.(?_65970262)_(65970386_?)del Deletion Pathogenic 832741 GRCh37: 7:65435249-65435373
GRCh38:
21 GUSB NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) SNV Pathogenic 190463 rs786205673 GRCh37: 7:65445300-65445300
GRCh38: 7:65980313-65980313
22 GUSB NM_000181.4(GUSB):c.1521G>A (p.Trp507Ter) SNV Pathogenic 900 rs121918179 GRCh37: 7:65432850-65432850
GRCh38: 7:65967863-65967863
23 GUSB NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) SNV Pathogenic 905 rs121918181 GRCh37: 7:65444769-65444769
GRCh38: 7:65979782-65979782
24 GUSB NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) SNV Pathogenic/Likely pathogenic 908 rs121918185 GRCh37: 7:65439688-65439688
GRCh38: 7:65974701-65974701
25 GUSB NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) SNV Likely pathogenic 894 rs121918173 GRCh37: 7:65439613-65439613
GRCh38: 7:65974626-65974626
26 GUSB NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) SNV Likely pathogenic 590813 rs1238361161 GRCh37: 7:65447067-65447067
GRCh38: 7:65982080-65982080
27 GUSB NM_000181.4(GUSB):c.893C>T (p.Ala298Val) SNV Likely pathogenic 619123 rs1451709678 GRCh37: 7:65441021-65441021
GRCh38: 7:65976034-65976034
28 GUSB NM_000181.4(GUSB):c.107G>T (p.Arg36Leu) SNV Likely pathogenic 694267 rs1264172545 GRCh37: 7:65447064-65447064
GRCh38: 7:65982077-65982077
29 GUSB NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) SNV Conflicting interpretations of pathogenicity 360552 rs561880652 GRCh37: 7:65439983-65439983
GRCh38: 7:65974996-65974996
30 GUSB NM_000181.4(GUSB):c.1240C>T (p.Leu414=) SNV Conflicting interpretations of pathogenicity 360550 rs150686327 GRCh37: 7:65439517-65439517
GRCh38: 7:65974530-65974530
31 GUSB NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) SNV Conflicting interpretations of pathogenicity 599019 rs774393243 GRCh37: 7:65435316-65435316
GRCh38: 7:65970329-65970329
32 GUSB NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu) SNV Uncertain significance 1037996 GRCh37: 7:65439666-65439666
GRCh38: 7:65974679-65974679
33 GUSB NM_000181.4(GUSB):c.169C>G (p.Arg57Gly) SNV Uncertain significance 1038304 GRCh37: 7:65447002-65447002
GRCh38: 7:65982015-65982015
34 GUSB NM_000181.4(GUSB):c.450G>C (p.Glu150Asp) SNV Uncertain significance 1043099 GRCh37: 7:65444845-65444845
GRCh38: 7:65979858-65979858
35 GUSB NM_000181.4(GUSB):c.185A>G (p.Gln62Arg) SNV Uncertain significance 1043245 GRCh37: 7:65446986-65446986
GRCh38: 7:65981999-65981999
36 GUSB NM_000181.4(GUSB):c.157G>A (p.Asp53Asn) SNV Uncertain significance 1046222 GRCh37: 7:65447014-65447014
GRCh38: 7:65982027-65982027
37 GUSB NM_000181.4(GUSB):c.764T>A (p.Leu255Gln) SNV Uncertain significance 1047447 GRCh37: 7:65441150-65441150
GRCh38: 7:65976163-65976163
38 GUSB NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys) SNV Uncertain significance 842512 GRCh37: 7:65439382-65439382
GRCh38: 7:65974395-65974395
39 GUSB NM_000181.4(GUSB):c.536C>T (p.Thr179Ile) SNV Uncertain significance 945528 GRCh37: 7:65444759-65444759
GRCh38: 7:65979772-65979772
40 GUSB NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser) SNV Uncertain significance 838570 GRCh37: 7:65439621-65439621
GRCh38: 7:65974634-65974634
41 GUSB NM_000181.4(GUSB):c.1065C>T (p.Asp355=) SNV Uncertain significance 848410 GRCh37: 7:65439906-65439906
GRCh38: 7:65974919-65974919
42 GUSB NM_000181.4(GUSB):c.613T>C (p.Tyr205His) SNV Uncertain significance 1001864 GRCh37: 7:65444497-65444497
GRCh38: 7:65979510-65979510
43 GUSB NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) SNV Uncertain significance 558975 rs769252159 GRCh37: 7:65447001-65447001
GRCh38: 7:65982014-65982014
44 GUSB NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) SNV Uncertain significance 936585 GRCh37: 7:65425960-65425960
GRCh38: 7:65960973-65960973
45 GUSB NM_000181.4(GUSB):c.1238C>T (p.Ala413Val) SNV Uncertain significance 908805 GRCh37: 7:65439519-65439519
GRCh38: 7:65974532-65974532
46 GUSB NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu) SNV Uncertain significance 1013699 GRCh37: 7:65426024-65426024
GRCh38: 7:65961037-65961037
47 GUSB NM_000181.4(GUSB):c.1790-2dup Duplication Uncertain significance 1013739 GRCh37: 7:65426051-65426052
GRCh38: 7:65961064-65961065
48 GUSB NM_000181.4(GUSB):c.1741G>A (p.Val581Met) SNV Uncertain significance 1018363 GRCh37: 7:65429358-65429358
GRCh38: 7:65964371-65964371
49 GUSB NM_000181.4(GUSB):c.210+11G>C SNV Uncertain significance 360555 rs886062403 GRCh37: 7:65446950-65446950
GRCh38: 7:65981963-65981963
50 GUSB NM_000181.4(GUSB):c.-20C>T SNV Uncertain significance 360560 rs577269089 GRCh37: 7:65447190-65447190
GRCh38: 7:65982203-65982203

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

72 (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 rs779499448
8 GUSB p.Ser52Phe VAR_037915 rs142454626
9 GUSB p.Gly136Arg VAR_037916 rs141742629
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 rs764018631
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 rs125011219

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:

36
# 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
13.71 SGSH NAGLU MANBA IDUA IDS HGSNAT
2
Show member pathways
12.51 SGSH NAGLU MANBA IDUA IDS GUSB
3
Show member pathways
12.24 SGSH NAGLU IDUA IDS GUSB ARSB
4 11.54 TPP1 SGSH NAGLU MANBA M6PR IDUA
5
Show member pathways
10.91 SGSH NAGLU IDUA IDS HGSNAT GUSB

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 9.91 TPP1 SGSH NAGLU IDUA GUSB GNS
2 lysosomal lumen GO:0043202 9.7 TPP1 SGSH NAGLU MANBA IDUA IDS
3 azurophil granule lumen GO:0035578 9.55 GUSB GNS GALNS ARSB ARSA
4 ficolin-1-rich granule lumen GO:1904813 9.5 GUSB GNS ARSB
5 lysosome GO:0005764 9.44 TPP1 SGSH NAGLU MANBA M6PR IDUA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.73 MANBA IGF2 IDUA GUSB
2 central nervous system development GO:0007417 9.69 TPP1 ARSB ARSA
3 metabolic process GO:0008152 9.67 NAGLU MANBA IDUA GUSB
4 lysosome organization GO:0007040 9.5 TPP1 NAGLU ARSB
5 neutrophil degranulation GO:0043312 9.5 MANBA HGSNAT GUSB GNS GALNS ARSB
6 glycosaminoglycan metabolic process GO:0030203 9.49 SGSH GNS
7 keratan sulfate catabolic process GO:0042340 9.48 GNS GALNS
8 response to pH GO:0009268 9.46 ARSB ARSA
9 lysosomal transport GO:0007041 9.43 M6PR HGSNAT ARSB
10 response to methylmercury GO:0051597 9.4 ARSB ARSA
11 chondroitin sulfate catabolic process GO:0030207 9.33 IDUA IDS ARSB
12 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS HGSNAT GUSB

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.8 SGSH IDS GNS GALNS ARSB ARSA
2 hydrolase activity GO:0016787 9.7 TPP1 SGSH NAGLU MANBA IDUA IDS
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.58 MANBA IDUA GUSB
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.56 NAGLU MANBA IDUA GUSB
5 glycosaminoglycan binding GO:0005539 9.46 SGSH GNS
6 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.43 SGSH GNS
7 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.37 GALNS ARSB
8 arylsulfatase activity GO:0004065 9.33 GALNS ARSB ARSA
9 sulfuric ester hydrolase activity GO:0008484 9.1 SGSH IDS GNS GALNS ARSB ARSA

Sources for Mucopolysaccharidosis, Type Vii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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