MPSPS
MCID: MCP040
MIFTS: 69

Mucopolysaccharidosis-Plus Syndrome (MPSPS)

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

Aliases & Classifications for Mucopolysaccharidosis-Plus Syndrome

MalaCards integrated aliases for Mucopolysaccharidosis-Plus Syndrome:

Name: Mucopolysaccharidosis-Plus Syndrome 56 73 36 6
Mucopolysaccharidosis 12 74 52 58 36 29 54 6 15 39
Mucopolysaccharidoses 43 71
Mpsps 56 73
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 58
Mucopolysaccharidosis-Like Plus Disease 58
Mps 52

Characteristics:

Orphanet epidemiological data:

58
mucopolysaccharidosis
Prevalence: 1-9/100000 (Netherlands),1-9/100000 (Australia),1-9/100000 (Portugal),1-9/100000 (Germany),1-9/100000 (Sweden),1-9/100000 (Norway),1-9/100000 (Denmark),1-9/100000 (Poland),1-9/100000 (Czech Republic),1-9/100000 (Tunisia),1-9/100000 (Taiwan, Province of China),1-9/100000 (Estonia);

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
most patients die in the first years of life


HPO:

31
mucopolysaccharidosis-plus syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

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


Summaries for Mucopolysaccharidosis-Plus Syndrome

NIH Rare Diseases : 52 Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells , blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person. For more specific information about the various forms of mucopolysaccharidosis, please click on the links below: Mucopolysaccharidosis, Type I Mucopolysaccharidosis, Type II Mucopolysaccharidosis, Type III Mucopolysaccharidosis, Type IV Mucopolysaccharidosis, Type VI Mucopolysaccharidosis, Type VII Mucopolysaccharidosis, Type IX

MalaCards based summary : Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to mucopolysaccharidosis, type ix and mucopolysaccharidosis, type iiic. An important gene associated with Mucopolysaccharidosis-Plus Syndrome is VPS33A (VPS33A Core Subunit Of CORVET And HOPS Complexes), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. The drugs Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are coarse facial features and recurrent respiratory infections

Disease Ontology : 12 A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

OMIM : 56 MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017). (617303)

KEGG : 36 Mucopolysaccharidosis-plus syndrome is a new type of mucopolysaccharidosis (MPS) that is not caused by deficiency of lysosomal enzyme. Patients show typical manifestations of MPS, and extremely high levels of plasma heparan sulphate. Additionally, most patients develop heart, kidney, and hematopoietic disorders. It has been suggested that mutations in the VPS33A gene might be responsible for this disease. VPS33A plays a role in the vesicular transport system.

UniProtKB/Swiss-Prot : 73 Mucopolysaccharidosis-plus syndrome: A form of mucopolysaccharidosis, a group of diseases characterized by excessive accumulation and secretion of oligomucopoloysaccharides. MPSPS is a multisystemic disorder characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, mental retardation, developmental delay, pyramidal signs, severe chronic anemia, renal involvement and cardiac defects. Laboratory analyses show proteinuria with glomerular foamy cells, excess secretion of urinary glycosaminoglycans, and extremely high levels of plasma heparan sulphate. Disease onset is in infancy. Most patients die in the first years of life due to cardiorespiratory failure. MPSPS inheritance is autosomal recessive.

Wikipedia : 74 Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of... more...

Related Diseases for Mucopolysaccharidosis-Plus Syndrome

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-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 602)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type ix 34.9 NAGLU HYAL1 HGSNAT
2 mucopolysaccharidosis, type iiic 34.8 SGSH NAGLU IDUA IDS HGSNAT GNS
3 mucopolysaccharidosis, type ii 34.8 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
4 hurler-scheie syndrome 34.8 SUMF1 SGSH NAGLU IDUA GALNS
5 mucopolysaccharidosis, type ivb 34.7 SGSH NAGLU IDUA IDS HGSNAT GNS
6 mucopolysaccharidosis, type iiid 34.7 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
7 mucopolysaccharidosis, type vii 34.7 SGSH NAGLU M6PR IGF2R IDUA IDS
8 hurler syndrome 34.6 NAGLU IGF2R IDUA IDS GLB1 GALNS
9 mucopolysaccharidosis, type iiib 34.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
10 mucopolysaccharidosis, type vi 34.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
11 mucopolysaccharidosis, type iiia 34.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
12 mucopolysaccharidosis, type iva 34.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
13 mucopolysaccharidosis iii 34.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
14 mucopolysaccharidosis iv 34.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
15 scheie syndrome 34.3 SUMF1 SGSH NAGLU IGF2R IDUA IDS
16 morquio syndrome 33.8 GUSB GLB1 GALNS ARSH APRT
17 multiple sulfatase deficiency 33.2 SUMF1 SGSH IDS GNS GALNS ARSH
18 mucolipidosis iii alpha/beta 32.5 M6PR IGF2R GUSB
19 lysosomal storage disease 32.4 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
20 metachromatic leukodystrophy 32.2 SUMF1 SGSH M6PR IGF2R IDUA HEXA
21 hydrocephalus 31.2 SUMF1 ARSH ARSB ARSA
22 gangliosidosis 31.2 HEXB HEXA GLB1 GALNS
23 mucolipidosis 31.1 SUMF1 M6PR IGF2R HEXA GALNS ARSH
24 fucosidosis 31.1 NAGLU IDUA GLB1 GALNS ARSH
25 mucolipidoses 31.0 HYAL1 HEXA
26 gaucher disease, type i 31.0 IDUA HEXA ARSH ARSA
27 glycogen storage disease ii 30.9 M6PR IGF2R IDUA
28 fabry disease 30.9 M6PR GUSB ARSA
29 mucopolysaccharidoses 30.9 NAGLU IDUA GUSB ARSH ARSB
30 sandhoff disease 30.8 IGF2R HEXB HEXA GLB1 ARSA
31 kluver-bucy syndrome 30.8 SGSH NAGLU HGSNAT
32 mucolipidosis ii alpha/beta 30.7 M6PR IGF2R GUSB ARSH
33 gm2 gangliosidosis 30.7 IGF2R HEXB HEXA GLB1 ARSH ARSA
34 gm1 gangliosidosis 30.7 IDUA GLB1 GALNS ARSH ARSA
35 krabbe disease 30.6 M6PR IGF2R IDUA ARSH ARSA
36 neuronal ceroid lipofuscinosis 30.5 SGSH M6PR IGF2R ARSH
37 leukodystrophy 30.5 SUMF1 IDUA ARSH ARSB ARSA
38 gm1-gangliosidosis, type ii 30.5 IDS HEXB GLB1 GALNS
39 glycoproteinosis 30.5 GLB1 GALNS ARSH
40 mannosidosis, alpha b, lysosomal 30.5 IGF2R IDUA GUSB ARSA
41 aspartylglucosaminuria 30.4 M6PR IGF2R IDUA ARSA
42 galactosialidosis 30.4 M6PR IDUA GLB1 GALNS ARSH
43 sphingolipidosis 30.4 SGSH M6PR IGF2R IDUA HEXB HEXA
44 tay-sachs disease 30.3 IGF2R IDUA HEXB HEXA GLB1 ARSH
45 adenine phosphoribosyltransferase deficiency 29.9 GALNS APRT
46 mucopolysaccharidosis type 6, slowly progressing 12.2
47 mucopolysaccharidosis type 6, rapidly progressing 12.2
48 mucopolysaccharidosis with skin involvement 12.1
49 multiple pterygium syndrome, escobar variant 11.6
50 carpal tunnel syndrome 11.5

Graphical network of the top 20 diseases related to Mucopolysaccharidosis-Plus Syndrome:



Diseases related to Mucopolysaccharidosis-Plus Syndrome

Symptoms & Phenotypes for Mucopolysaccharidosis-Plus Syndrome

Human phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

58 31 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
4 dysostosis multiplex 58 31 hallmark (90%) Very frequent (99-80%) HP:0000943
5 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
6 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
7 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
8 psychomotor retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0025356
9 macroglossia 58 31 frequent (33%) Frequent (79-30%) HP:0000158
10 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
11 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
12 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
13 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
14 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
15 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
16 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
17 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
18 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
19 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
20 hypoalbuminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003073
21 tachycardia 58 31 frequent (33%) Frequent (79-30%) HP:0001649
22 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
23 heparan sulfate excretion in urine 58 31 frequent (33%) Frequent (79-30%) HP:0002159
24 leukopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001882
25 inability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0002540
26 recurrent gastroenteritis 58 31 frequent (33%) Frequent (79-30%) HP:0031123
27 pulmonary obstruction 31 frequent (33%) HP:0006536
28 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
29 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
30 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
31 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
32 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
33 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
34 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
35 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
36 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
37 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
38 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
39 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
40 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
41 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
42 telecanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000506
43 conjunctivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000509
44 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
45 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
46 abnormality of coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001928
47 enlarged kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000105
48 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
49 deep palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0006191
50 thick hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0100874

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
macroglossia
full lips

Abdomen Spleen:
splenomegaly

Head And Neck Neck:
short neck

Head And Neck Eyes:
optic atrophy
telecanthus
synophrys
long eyelashes
epicanthal folds

Laboratory Abnormalities:
proteinuria
increased plasma heparan sulfate
increased urinary glycosaminoglycan (gag)
electron microscopy of conjunctival biopsy showed abnormal endoplasmic reticulum, abnormal mitochondria, and endocytic vesicles with ballooning and vacuolization (1 patient)

Head And Neck Face:
prominent forehead
coarse facies
large rounded cheeks

Hematology:
anemia
thrombocytopenia
bone marrow hypoplasia (in some patients)
leukocytopenia
lymphocyte granulation

Skeletal Skull:
j-shaped sella turcica

Skin Nails Hair Skin:
thick skin

Skeletal Feet:
foot deformities

Skeletal Hands:
bullet-shaped phalanges
hand contractures
metacarpal pointing

Neurologic Central Nervous System:
global developmental delay
brain atrophy (in some patients)
delayed myelination (in some patients)
cerebral calcification (in some patients)

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum
oar-shaped ribs

Skin Nails Hair Hair:
coarse hair
hirsutism
low hairlines

Skeletal:
dysostosis multiplex
joint contractures

Cardiovascular Heart:
hypertrophic cardiomyopathy
patent ductus arteriosus
congenital heart defects
atrial septal defects

Skeletal Pelvis:
flared iliac wings
acetabular dysplasia
dislocation hips

Genitourinary Kidneys:
focal segmental glomerulosclerosis
tubular atrophy
enlarged kidneys
epithelial cells with foamy and granular cytoplasm

Head And Neck Nose:
broad nasal bridge
broad nose

Respiratory:
respiratory infections, recurrent
respiratory difficulties (in infancy)
acute respiratory distress syndrome

Skeletal Spine:
vertebral dysplasia

Clinical features from OMIM:

617303

MGI Mouse Phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.46 APRT ARSA ARSB GLB1 GNS GUSB
2 cellular MP:0005384 10.39 ARSB GALNS GLB1 GNS GUSB HEXB
3 growth/size/body region MP:0005378 10.37 APRT ARSB GLB1 GUSB HEXA HEXB
4 hematopoietic system MP:0005397 10.37 APRT ARSA ARSB GLB1 GNS GUSB
5 homeostasis/metabolism MP:0005376 10.35 APRT ARSA ARSB GALNS GLB1 GUSB
6 craniofacial MP:0005382 10.24 ARSB GUSB HEXA HEXB IDS IDUA
7 mortality/aging MP:0010768 10.24 APRT GLB1 GNS GUSB HEXA HEXB
8 immune system MP:0005387 10.23 APRT ARSA GLB1 GNS HEXB HGSNAT
9 liver/biliary system MP:0005370 10.14 GLB1 HEXA HEXB HGSNAT HYAL1 IDS
10 limbs/digits/tail MP:0005371 10.13 ARSB GUSB HEXA HEXB HGSNAT IDS
11 nervous system MP:0003631 10.13 ARSA ARSB GLB1 GNS HEXA HEXB
12 renal/urinary system MP:0005367 10.13 APRT ARSB GALNS GLB1 GUSB HEXA
13 hearing/vestibular/ear MP:0005377 10.05 ARSA ARSB GUSB HEXA HEXB IDUA
14 reproductive system MP:0005389 9.9 APRT ARSB GLB1 GUSB HEXA HEXB
15 skeleton MP:0005390 9.83 ARSB GALNS GLB1 GUSB HEXA HEXB
16 vision/eye MP:0005391 9.28 ARSB GALNS HEXA HEXB IDS IDUA

Drugs & Therapeutics for Mucopolysaccharidosis-Plus Syndrome

Drugs for Mucopolysaccharidosis-Plus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 78)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 lysine Phase 2, Phase 3
4 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
5
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
10
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
11 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
12
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
13
tannic acid Approved Phase 2 1401-55-4
14
Mesna Approved, Investigational Phase 2 3375-50-6 598
15
Mycophenolic acid Approved Phase 2 24280-93-1 446541
16
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
17
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
18
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
19
Losartan Approved Phase 2 114798-26-4 3961
20
Angiotensin II Approved, Investigational Phase 2 4474-91-3, 11128-99-7, 68521-88-0 172198
21
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
22
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
23
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
24
rituximab Approved Phase 2 174722-31-7 10201696
25
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
26
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
27
Hydroxyurea Approved Phase 2 127-07-1 3657
28
Melphalan Approved Phase 2 148-82-3 460612 4053
29
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
30
Morphine Approved, Investigational Phase 2 57-27-2 5288826
31
Busulfan Approved, Investigational Phase 2 55-98-1 2478
32
alemtuzumab Approved, Investigational Phase 2 216503-57-0
33
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
34
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
35
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
36 Tocotrienol Investigational Phase 2 6829-55-6
37 Anti-Infective Agents Phase 1, Phase 2
38 Cyclosporins Phase 2
39 Antifungal Agents Phase 1, Phase 2
40 Calcineurin Inhibitors Phase 1, Phase 2
41 Dermatologic Agents Phase 1, Phase 2
42 Antimetabolites Phase 1, Phase 2
43 Antibodies, Monoclonal Phase 1, Phase 2
44 Methylprednisolone Acetate Phase 2
45 Antitubercular Agents Phase 2
46 Anti-Bacterial Agents Phase 2
47 Antibiotics, Antitubercular Phase 2
48 Anti-Inflammatory Agents Phase 1, Phase 2
49 Angiotensin II Type 1 Receptor Blockers Phase 2
50 Angiotensinogen Phase 2

Interventional clinical trials:

(show top 50) (show all 175)
# Name Status NCT ID Phase Drugs
1 A Multicenter, Multinational, Open-Label Study of the Effects of Aldurazyme (Laronidase) Treatment on Lactation in Women With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Unknown status NCT00418821 Phase 4
2 A Multicenter, Multinational, Randomized, Dose-Optimization Study of the Safety and Pharmacodynamic Response of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00144781 Phase 4
3 A Multicenter, Multinational, Open-Label Study of Anti-Laronidase Antibody Formation and Urinary GAG Levels in Patients With Mucopolysaccharidosis I (MPS I) Being Treated With Aldurazyme® (Laronidase). Completed NCT00144768 Phase 4 laronidase
4 A Phase 4 Multi-center, Multi-national, Open-label, Randomized, Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With Maroteaux-Lamy Syndrome (MPS VI) Completed NCT00299000 Phase 4 Naglazyme
5 A Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00607386 Phase 4
6 A Long-Term, Open-Label, Multicenter, Phase IV Study to Assess Longitudinal Changes on Height and Weight in Patients With MPS II Who Are Receiving Elaprase and Started Treatment With Elaprase at <6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
7 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
8 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
9 A Multicenter, Multinational Open-Label Extension Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With Mucopolysaccharidosis VI Completed NCT00104234 Phase 3 N-acetylgalactosamine 4-sulfatase;Placebo/rhASB
10 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
11 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
12 A Randomized, Double-Blind, Placebo-Controlled, Multicenter, Multinational, Clinical Study of Recombinant Human Alpha L-Iduronidase In Patients With Mucopolysaccharidosis I Completed NCT00912925 Phase 3
13 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
14 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
15 A Phase II/III, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Safety and Efficacy of Weekly and Every Other Week Dosing Regimens of Iduronate-2-Sulfatase Enzyme Replacement Therapy in Patients With MPS II Completed NCT00069641 Phase 2, Phase 3
16 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
17 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multinational Clinical Study to Evaluate the Efficacy and Safety of 2.0 mg/kg/Week and 2.0 mg/kg/Every Other Week BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week
18 A Multicenter, Multinational, Extension Study to Evaluate the Long-Term Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01415427 Phase 3 BMN 110 - Weekly;BMN 110 - Every Other Week
19 An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Completed NCT00630747 Phase 2, Phase 3
20 A Multicenter Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01966029 Phase 3 BMN 110
21 To Evaluate the Safety and Efficacy of Hunterase(Idursulfase-beta) in Hunter Syndrome Patients < 6 Years of Age Receiving Idursulfase Enzyme Replacement Therapy Completed NCT01645189 Phase 3
22 A Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3
23 Phase 3, Double-blind, Randomized, Active-controlled (Part 1) and Open-labeled, Historical Placebo Controlled (Part 2) Study to Evaluate the Efficacy of Hunterase (Idursulfase-beta) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Recruiting NCT03920540 Phase 3
24 Open-label, Single-arm, Multi-center Study of Intracerebral Administration of Adeno-associated Viral (AAV) Serotype rh.10 Carrying Human N-sulfoglucosamine Sulfohydrolase (SGSH) cDNA for Treatment of Mucopolysaccharidosis Type IIIA Recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
25 A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT03568175 Phase 2, Phase 3 JR-141
26 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
27 An Extension Study of JR-141-301 in Patients With Mucopolysaccharidosis II Enrolling by invitation NCT04348136 Phase 2, Phase 3 JR-141
28 An Open Label Extension of Study HGT-HIT-094 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Idursulfase Administered in Conjunction With Elaprase® in Patients With Hunter Syndrome and Cognitive Impairment Enrolling by invitation NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
29 Phase II/III, Randomized, Clinical Trial of the Effects of Nutropin AQ® on Growth and Bone Metabolism in Children With MPS I, II, and VI and Short Stature Terminated NCT00748969 Phase 2, Phase 3 Somatropin (DNA origin)
30 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
31 Phase 2, Randomized, Double-blind, Active-controlled, Dose-ranging Study to Evaluate the Pharmacokinetics, Pharmacodynamics and Safety of Idursulfase-beta (GC1111) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Unknown status NCT02663024 Phase 2
32 Randomized, Single-blind, Active-controlled, Phase 1/2 Study to Evaluate the Safety and Efficacy of GC1111 (Recombinant Human Iduronate-2-sulfatase) in Hunter Syndrome (Mucopolysaccharidosis II) Patients Completed NCT01301898 Phase 1, Phase 2 GC1111_0.5mg/kg;GC1111_1.0mg/kg;Elaprase_0.5mg/kg
33 A Trial of Antigen-specific Immune Tolerance Induction in Mucopolysaccharidosis I (MPS I) Patients Initiating Enzyme Replacement Therapy With Aldurazyme® (Laronidase) Completed NCT00741338 Phase 1, Phase 2 Cyclosporine A (CsA);Azathioprine (Aza)
34 Open-Label Study of Efficacy and Safety of Recombinant Human N-acetylgalactosamine 4-sulfatase in Patients With MPS VI Completed NCT00048711 Phase 2 N-acetylgalactosamine 4-sulfatase
35 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141;JR-141;JR-141
36 A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
37 A Phase II Open-Label Clinical Trial of Recombinant Human Alpha-L-iduronidase (Aldurazyme®) to Evaluate the Safety and Pharmacokinetics in Mucopolysaccharidosis I (MPS I) Patients Less Than 5 Years Old Completed NCT00146757 Phase 2
38 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
39 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
40 Phase I/II Study of Retroviral-Mediated Transfer of Iduronate-2-Sulfatase Gene Into Lymphocytes of Patients With Mucopolysaccharidosis II (Mild Hunter Syndrome) Completed NCT00004454 Phase 1, Phase 2
41 An Extension Study Evaluating Long Term Safety and Activity of AGT-181 in Patients With Mucopolysaccharidosis I Who Were Previously Enrolled in Studies With AGT-181 Completed NCT03071341 Phase 1, Phase 2 AGT-181
42 A Phase 2, Open-label, Multinational Clinical Study to Evaluate the Safety and Efficacy of BMN 110 in Pediatric Patients Less Than 5 Years of Age With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01515956 Phase 2 BMN 110
43 Long-term Follow-up of Patients With Sanfilippo Type A Syndrome Who Have Previously Been Treated in the P1-SAF-301 Clinical Study Evaluating the Tolerability and Safety of the Intracerebral Administration of SAF-301. Completed NCT02053064 Phase 1, Phase 2
44 A Phase 1/2, Multicenter, Open-label, Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of BMN 110 in Subjects With Mucopolysaccharidosis IVA (Morquio Syndrome) Completed NCT00884949 Phase 1, Phase 2 BMN 110
45 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
46 A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01155778 Phase 1, Phase 2
47 Phase II Study of Combined Laronidase (AldurazymeTM) Enzyme Replacement Therapy (ERT) With Hematopoietic Stem Cell Transplantation (HSCT) for Hurler Syndrome (MPS IH) Completed NCT00176891 Phase 2 Laronidase ERT
48 An Open-label, Single Arm, Monocentric, Phase I/II Clinical Study of Intracerebral Administration of Adeno-associated Viral Vector Serotype 10 Carrying the Human SGSH and SUMF1 cDNAs for the Treatment of Sanfilippo Type A Syndrome. Completed NCT01474343 Phase 1, Phase 2
49 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
50 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil

Search NIH Clinical Center for Mucopolysaccharidosis-Plus Syndrome

Cochrane evidence based reviews: mucopolysaccharidoses

Genetic Tests for Mucopolysaccharidosis-Plus Syndrome

Genetic tests related to Mucopolysaccharidosis-Plus Syndrome:

# Genetic test Affiliating Genes
1 Mucopolysaccharidosis 29

Anatomical Context for Mucopolysaccharidosis-Plus Syndrome

MalaCards organs/tissues related to Mucopolysaccharidosis-Plus Syndrome:

40
Bone, Brain, Bone Marrow, Heart, Skin, Liver, Kidney

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 3719)
# Title Authors PMID Year
1
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. 56 6 61
28013294 2017
2
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 56 6
27547915 2017
3
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. 54 61
20332769 2010
4
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). 54 61
20138557 2010
5
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). 61 54
19773189 2010
6
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 54 61
19587708 2009
7
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 61 54
19632871 2009
8
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 61 54
19823584 2009
9
Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia. 54 61
18584975 2009
10
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 54 61
19479962 2009
11
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. 54 61
19373925 2009
12
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. 61 54
18344557 2008
13
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 54 61
18218046 2008
14
Enzyme replacement therapy in a murine model of Morquio A syndrome. 61 54
18056156 2008
15
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 54 61
18157819 2008
16
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. 54 61
17876718 2007
17
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 61 54
17718826 2007
18
Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. 61 54
17712420 2007
19
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 61 54
17460717 2007
20
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. 54 61
17498992 2007
21
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. 54 61
17336563 2007
22
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. 61 54
17347914 2007
23
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples. 61 54
17027703 2007
24
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]. 61 54
17284421 2007
25
[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. 54 61
17264033 2007
26
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. 61 54
16837223 2006
27
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. 61 54
16378744 2006
28
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]. 61 54
16624026 2006
29
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 61 54
16287098 2005
30
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. 54 61
16219627 2005
31
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. 61 54
15649123 2005
32
Enzyme replacement therapy in mucopolysaccharidosis type I. 54 61
15895714 2005
33
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. 54 61
15902564 2005
34
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 61 54
15933803 2005
35
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. 61 54
16128602 2005
36
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. 54 61
15308126 2004
37
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. 54 61
15241807 2004
38
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 61 54
15235041 2004
39
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. 61 54
15146464 2004
40
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. 61 54
15309681 2004
41
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. 61 54
12721840 2003
42
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry. 61 54
12649064 2003
43
Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII). 61 54
14642000 2003
44
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene. 54 61
12442278 2002
45
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 61 54
12447720 2002
46
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. 61 54
11686941 2001
47
Unusual clinical presentation in two cases of multiple sulfatase deficiency. 54 61
11737681 2001
48
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. 54 61
11414757 2001
49
Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome. 61 54
11322427 2001
50
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. 54 61
11238101 2001

Variations for Mucopolysaccharidosis-Plus Syndrome

ClinVar genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

6 (show all 19) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAGLU NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp)SNV Pathogenic 830368 17:40689561-40689561 17:42537543-42537543
2 HGSNAT NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg)SNV Pathogenic 830365 8:43027493-43027493 8:43172350-43172350
3 HGSNAT NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)SNV Pathogenic 830366 8:43052985-43052985 8:43197842-43197842
4 NAGLU NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)SNV Pathogenic 830367 17:40695513-40695513 17:42543495-42543495
5 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)SNV Pathogenic 1565 rs104894594 17:40695951-40695951 17:42543933-42543933
6 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)SNV Pathogenic 1566 rs104894595 17:40695586-40695586 17:42543568-42543568
7 SGSH NM_000199.5(SGSH):c.734G>A (p.Arg245His)SNV Pathogenic 5107 rs104894635 17:78187614-78187614 17:80213815-80213815
8 SGSH NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)SNV Pathogenic 5111 rs104894637 17:78190883-78190883 17:80217084-80217084
9 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)SNV Pathogenic 30459 rs138504221 17:78185927-78185927 17:80212128-80212128
10 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)SNV Pathogenic 252961 rs370717845 8:43016605-43016605 8:43161462-43161462
11 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)SNV Pathogenic 279891 rs144143780 17:78184621-78184621 17:80210822-80210822
12 VPS33A NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp)SNV Pathogenic 374985 rs767748011 12:122717464-122717464 12:122232917-122232917
13 SGSH NM_000199.5(SGSH):c.1080del (p.Val361fs)deletion Pathogenic 518268 rs770947426 17:78184680-78184680 17:80210881-80210881
14 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)SNV Pathogenic/Likely pathogenic 522823 rs148881970 17:40695858-40695858 17:42543840-42543840
15 SGSH NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)SNV Pathogenic/Likely pathogenic 5108 rs104894636 17:78190860-78190860 17:80217061-80217061
16 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)SNV Pathogenic/Likely pathogenic 1237 rs121908285 8:43037305-43037305 8:43182162-43182162
17 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)SNV Pathogenic/Likely pathogenic 1562 rs104894592 17:40693092-40693092 17:42541074-42541074
18 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)SNV Conflicting interpretations of pathogenicity 632282 rs147036053 17:40695924-40695924 17:42543906-42543906
19 NAGLU NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)SNV Uncertain significance 553204 rs749140168 17:40693203-40693203 17:42541185-42541185

UniProtKB/Swiss-Prot genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 VPS33A p.Arg498Trp VAR_078032 rs767748011

Expression for Mucopolysaccharidosis-Plus Syndrome

Search GEO for disease gene expression data for Mucopolysaccharidosis-Plus Syndrome.

Pathways for Mucopolysaccharidosis-Plus Syndrome

Pathways related to Mucopolysaccharidosis-Plus Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

Pathways related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 SUMF1 SGSH NAGLU IDUA IDS HYAL1
2
Show member pathways
12.75 SGSH NAGLU IDUA IDS HYAL1 HEXB
3
Show member pathways
12.36 SGSH NAGLU IDUA IDS HYAL1 HEXB
4
Show member pathways
12.32 SUMF1 HEXB HEXA GLB1 ARSH ARSB
5
Show member pathways
11.79 SUMF1 ARSH ARSB ARSA
6
Show member pathways
11.68 HEXB HEXA GNS GLB1
7 11.66 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
8
Show member pathways
11.1 HEXB HEXA GLB1
9
Show member pathways
11.07 SGSH NAGLU IDUA IDS HYAL1 HGSNAT
10 10.84 HEXB HEXA GLB1

GO Terms for Mucopolysaccharidosis-Plus Syndrome

Cellular components related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.1 SGSH NAGLU IGF2R IDUA HYAL1 HEXB
2 extracellular region GO:0005576 10.06 HYAL1 HEXB GUSB GNS GLB1 GALNS
3 lysosomal lumen GO:0043202 9.77 SGSH NAGLU IDUA IDS HYAL1 HEXB
4 lysosomal membrane GO:0005765 9.76 VPS33A M6PR IGF2R HGSNAT
5 endoplasmic reticulum lumen GO:0005788 9.73 SUMF1 ARSH ARSB ARSA
6 azurophil granule lumen GO:0035578 9.7 HEXB GUSB GNS GLB1 GALNS ARSB
7 late endosome GO:0005770 9.65 VPS33A M6PR IGF2R
8 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
9 lysosome GO:0005764 9.55 VPS33A SGSH NAGLU M6PR IGF2R IDUA
10 azurophil granule GO:0042582 9.37 HEXB HEXA

Biological processes related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.96 IGF2R HGSNAT HEXB GUSB GNS GLB1
2 carbohydrate metabolic process GO:0005975 9.93 IDUA HYAL1 HEXB HEXA GUSB GLB1
3 metabolic process GO:0008152 9.87 NAGLU IDUA HYAL1 HEXB HEXA GUSB
4 glycosphingolipid metabolic process GO:0006687 9.77 SUMF1 HEXB HEXA GLB1 ARSA
5 lysosomal transport GO:0007041 9.73 M6PR IGF2R HGSNAT ARSB
6 hyaluronan catabolic process GO:0030214 9.71 HYAL1 HEXB HEXA GUSB
7 lysosome organization GO:0007040 9.67 NAGLU HEXB ARSB
8 glycosaminoglycan metabolic process GO:0030203 9.65 SGSH HEXB GNS
9 keratan sulfate catabolic process GO:0042340 9.55 HEXB HEXA GNS GLB1 GALNS
10 response to pH GO:0009268 9.52 ARSB ARSA
11 response to methylmercury GO:0051597 9.51 ARSB ARSA
12 chondroitin sulfate catabolic process GO:0030207 9.43 IDUA IDS HYAL1 HEXB HEXA ARSB
13 glycosaminoglycan catabolic process GO:0006027 9.23 SGSH NAGLU IDUA IDS HGSNAT GUSB

Molecular functions related to Mucopolysaccharidosis-Plus Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 10 SGSH NAGLU IDUA IDS HYAL1 HEXB
2 catalytic activity GO:0003824 9.97 SGSH IDS HYAL1 GNS GALNS ARSH
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.65 IDUA HEXB HEXA GUSB GLB1
4 arylsulfatase activity GO:0004065 9.62 GALNS ARSH ARSB ARSA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 NAGLU IDUA HYAL1 HEXB HEXA GUSB
6 retromer complex binding GO:1905394 9.49 M6PR IGF2R
7 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.48 SGSH GNS
8 beta-N-acetylhexosaminidase activity GO:0004563 9.46 HEXB HEXA
9 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.43 HEXB HEXA
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
11 sulfuric ester hydrolase activity GO:0008484 9.17 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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