MPSPS
MCID: MCP040
MIFTS: 62

Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic 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 57 74 37 6
Mucopolysaccharidosis 12 75 53 59 37 29 55 15 40
Mucopolysaccharidoses 44 72
Mpsps 57 74
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 59
Mucopolysaccharidosis-Like Plus Disease 59
Mps 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

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


HPO:

32
mucopolysaccharidosis-plus syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:12798
OMIM 57 617303
ICD9CM 35 277.5
MeSH 44 D009083
NCIt 50 C61259
SNOMED-CT 68 11380006
ICD10 33 E76.3
MESH via Orphanet 45 D009083
ICD10 via Orphanet 34 E76.0 E76.1 E76.2 more
UMLS via Orphanet 73 C0026703
UMLS 72 C0026703

Summaries for Mucopolysaccharidosis-Plus Syndrome

NIH Rare Diseases : 53 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 iva and mucopolysaccharidosis, type ii. 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 Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and bone marrow, and related phenotypes are brain atrophy and cerebral calcification

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

OMIM : 57 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 : 37
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 : 74 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 : 75 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 Type 2, Severe Form

Diseases related to Mucopolysaccharidosis-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 592)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type iva 34.7 GALNS ARSH
2 mucopolysaccharidosis, type ii 34.4 IDS GALNS ARSH
3 scheie syndrome 34.3 NAGLU IDUA GALNS
4 mucopolysaccharidosis, type iiia 34.2 SGSH NAGLU ARSH
5 mucopolysaccharidosis, type vii 34.0 SGSH IDUA GUSB GALNS
6 mucopolysaccharidosis, type vi 33.8 GUSB GALNS ARSH ARSB
7 morquio syndrome 33.0 GALNS APRT
8 mucopolysaccharidosis iii 32.6 SGSH NAGLU HGSNAT GNS ARSH
9 metachromatic leukodystrophy 31.4 ARSH ARSB
10 multiple sulfatase deficiency 31.1 SGSH IDS GNS GALNS ARSH ARSB
11 mucopolysaccharidoses 31.0 NAGLU IDUA HGSNAT GUSB ARSH
12 inherited metabolic disorder 30.9 NAGLU IDUA GALNS
13 gastric dilatation 29.9 ARSH ARSB
14 adenine phosphoribosyltransferase deficiency 29.6 GALNS APRT
15 mucolipidosis ii alpha/beta 29.5 IGF2R GUSB ARSH
16 kluver-bucy syndrome 29.3 SGSH NAGLU HGSNAT
17 lysosomal storage disease 28.9 SGSH NAGLU IDUA IDS HGSNAT GUSB
18 mucopolysaccharidosis, type ivb 12.7
19 mucopolysaccharidosis, type iiib 12.7
20 mucopolysaccharidosis, type iiic 12.7
21 mucopolysaccharidosis, type iiid 12.7
22 mucopolysaccharidosis, type ix 12.7
23 hurler syndrome 12.5
24 hurler-scheie syndrome 12.5
25 mucopolysaccharidosis type 2, severe form 12.5
26 mucopolysaccharidosis type 2, attenuated form 12.5
27 mucopolysaccharidosis type 6, slowly progressing 12.2
28 mucopolysaccharidosis type 6, rapidly progressing 12.2
29 mucopolysaccharidosis with skin involvement 12.1
30 multiple pterygium syndrome, escobar variant 11.6
31 carpal tunnel syndrome 11.5
32 spondyloepiphyseal dysplasia with congenital joint dislocations 11.5
33 epidermolysis bullosa simplex with mottled pigmentation 11.4
34 winchester syndrome 11.4
35 macular dystrophy, corneal 11.4
36 arachnoid cysts 11.4
37 myofascial pain syndrome 11.4
38 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.2
39 morquio syndrome c 11.1
40 mucolipidosis iii alpha/beta 11.1
41 n acetyltransferase deficiency 11.1
42 minimal pigment oculocutaneous albinism type 1 11.1
43 autosomal recessive disease 10.7
44 hematopoietic stem cell transplantation 10.7
45 dysostosis 10.6
46 lysosomal storage disease with skeletal involvement 10.6
47 hydrocephalus 10.4
48 congenital hydrocephalus 10.4
49 hydrops fetalis 10.4
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4

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:

32 (show all 40)
# Description HPO Frequency HPO Source Accession
1 brain atrophy 32 occasional (7.5%) HP:0012444
2 cerebral calcification 32 occasional (7.5%) HP:0002514
3 bone marrow hypocellularity 32 occasional (7.5%) HP:0005528
4 delayed myelination 32 occasional (7.5%) HP:0012448
5 short neck 32 HP:0000470
6 pectus excavatum 32 HP:0000767
7 macroglossia 32 HP:0000158
8 coarse facial features 32 HP:0000280
9 global developmental delay 32 HP:0001263
10 splenomegaly 32 HP:0001744
11 recurrent respiratory infections 32 HP:0002205
12 hepatomegaly 32 HP:0002240
13 wide nasal bridge 32 HP:0000431
14 pectus carinatum 32 HP:0000768
15 thick vermilion border 32 HP:0012471
16 optic atrophy 32 HP:0000648
17 coarse hair 32 HP:0002208
18 flexion contracture 32 HP:0001371
19 proteinuria 32 HP:0000093
20 dysostosis multiplex 32 HP:0000943
21 prominent forehead 32 HP:0011220
22 hypertrophic cardiomyopathy 32 HP:0001639
23 anemia 32 HP:0001903
24 patent ductus arteriosus 32 HP:0001643
25 respiratory distress 32 HP:0002098
26 epicanthus 32 HP:0000286
27 thickened skin 32 HP:0001072
28 abnormality of the foot 32 HP:0001760
29 thrombocytopenia 32 HP:0001873
30 telecanthus 32 HP:0000506
31 long eyelashes 32 HP:0000527
32 synophrys 32 HP:0000664
33 wide nose 32 HP:0000445
34 hirsutism 32 HP:0001007
35 focal segmental glomerulosclerosis 32 HP:0000097
36 flared iliac wings 32 HP:0002869
37 j-shaped sella turcica 32 HP:0002680
38 acetabular dysplasia 32 HP:0008807
39 macrovesicular hepatic steatosis 32 HP:0001403
40 tubular atrophy 32 HP:0000092

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Mouth:
macroglossia
full lips

Abdomen Spleen:
splenomegaly

Head And Neck Eyes:
optic atrophy
telecanthus
long eyelashes
synophrys
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 Pelvis:
flared iliac wings
acetabular dysplasia
dislocation hips

Skin Nails Hair Skin:
thick skin

Skeletal Feet:
foot deformities

Skeletal Hands:
bullet-shaped phalanges
hand contractures
metacarpal pointing

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

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

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

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

Skeletal Skull:
j-shaped sella turcica

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:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 APRT ARSB GNS GUSB HGSNAT IDS
2 hematopoietic system MP:0005397 10.24 APRT ARSB GNS GUSB HGSNAT IDS
3 cellular MP:0005384 10.22 ARSB GALNS GNS GUSB HGSNAT IDS
4 homeostasis/metabolism MP:0005376 10.18 APRT ARSB GALNS GUSB HGSNAT IDS
5 immune system MP:0005387 10.06 APRT GNS HGSNAT HYAL1 IDS IDUA
6 craniofacial MP:0005382 10.05 ARSB GUSB IDS IDUA IGF2R NAGLU
7 integument MP:0010771 9.98 APRT GUSB IDS IDUA NAGLU SGSH
8 mortality/aging MP:0010768 9.97 APRT GNS GUSB HGSNAT IDS IDUA
9 liver/biliary system MP:0005370 9.91 HGSNAT HYAL1 IDS IDUA IGF2R NAGLU
10 renal/urinary system MP:0005367 9.9 APRT ARSB GALNS GUSB HGSNAT IDS
11 nervous system MP:0003631 9.86 ARSB GNS HGSNAT IDS IDUA IGF2R
12 limbs/digits/tail MP:0005371 9.8 ARSB GUSB IDS IDUA IGF2R
13 skeleton MP:0005390 9.61 ARSB GALNS GUSB HYAL1 IDS IDUA
14 vision/eye MP:0005391 9.17 ARSB GALNS IDS IDUA NAGLU SGSH

Drugs & Therapeutics for Mucopolysaccharidosis-Plus Syndrome

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4
2 Immunoglobulins Phase 4
3 lysine Phase 2, Phase 3
4 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
5
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
6
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
7
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
10
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
11
tannic acid Approved Phase 2 1401-55-4
12
Mesna Approved, Investigational Phase 2 3375-50-6 598
13
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
14
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
15
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
16
Losartan Approved Phase 2 114798-26-4 3961
17
Angiotensin II Approved, Investigational Phase 2 11128-99-7, 68521-88-0, 4474-91-3 172198
18
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
19
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
20
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
21
rituximab Approved Phase 2 174722-31-7 10201696
22
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
23
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
24
Hydroxyurea Approved Phase 2 127-07-1 3657
25
Melphalan Approved Phase 2 148-82-3 460612 4053
26
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
27
Morphine Approved, Investigational Phase 2 57-27-2 5288826
28
alemtuzumab Approved, Investigational Phase 2 216503-57-0
29
Busulfan Approved, Investigational Phase 2 55-98-1 2478
30
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
31
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
32
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
33 Tocotrienol Investigational Phase 2 6829-55-6
34 Antifungal Agents Phase 1, Phase 2
35 Cyclosporins Phase 2
36 Anti-Infective Agents Phase 1, Phase 2
37 Dermatologic Agents Phase 1, Phase 2
38 Calcineurin Inhibitors Phase 1, Phase 2
39 Antibodies, Monoclonal Phase 1, Phase 2
40 Hypoglycemic Agents Phase 1, Phase 2
41 Prednisolone acetate Phase 2
42 Methylprednisolone Acetate Phase 2
43 Anti-Bacterial Agents Phase 2
44 Antibiotics, Antitubercular Phase 2
45 Antitubercular Agents Phase 2
46 Antimetabolites Phase 2
47 Antimetabolites, Antineoplastic Phase 2
48 Pharmaceutical Solutions Phase 1, Phase 2
49 Anti-Inflammatory Agents Phase 1, Phase 2
50 Angiotensinogen Phase 2

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 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
5 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 Recruiting NCT00418821 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 Open-Label, Phase 3B Study to Evaluate the Efficacy and Safety of BMN 110 in Australian Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Unknown status NCT01966029 Phase 3 BMN 110
10 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
11 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
12 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
13 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
14 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
15 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
16 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
17 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
18 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
19 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
20 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
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 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
27 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Not yet recruiting NCT04018755 Phase 2, Phase 3
28 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)
29 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
30 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
31 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)
32 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
33 A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
34 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
35 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
36 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
37 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
38 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
39 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
40 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
41 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
42 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
43 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
44 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
45 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
46 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
47 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
48 Pilot Study of the Effect of Adalimumab on Physical Function and Musculoskeletal Disease in Mucopolysaccharidosis Types I, II and VI Completed NCT02437253 Phase 1, Phase 2 Adalimumab
49 A Two-Stage, Phase 1/2, Open-Label Study of the Human Insulin Receptor Monoclonal Antibody-Human Alpha-L-iduronidase (HIRMAb-IDUA) Fusion Protein, AGT-181 in Patients With Mucopolysaccharidosis I (MPS I, Hurler Syndrome) Completed NCT03053089 Phase 1, Phase 2 AGT-181
50 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2

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:

41
Bone, Brain, Bone Marrow, Heart, Skin, Liver, Testes

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 3560)
# Title Authors PMID Year
1
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. 38 8 71
28013294 2017
2
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 8 71
27547915 2017
3
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. 9 38
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). 9 38
20138557 2010
5
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). 9 38
19773189 2010
6
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 9 38
19587708 2009
7
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 9 38
19632871 2009
8
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 9 38
19823584 2009
9
Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia. 9 38
18584975 2009
10
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 9 38
19479962 2009
11
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. 9 38
19373925 2009
12
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. 9 38
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. 9 38
18218046 2008
14
Enzyme replacement therapy in a murine model of Morquio A syndrome. 9 38
18056156 2008
15
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 9 38
18157819 2008
16
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. 9 38
17876718 2007
17
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 9 38
17718826 2007
18
Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. 9 38
17712420 2007
19
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 9 38
17460717 2007
20
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. 9 38
17498992 2007
21
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. 9 38
17336563 2007
22
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. 9 38
17347914 2007
23
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples. 9 38
17027703 2007
24
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]. 9 38
17284421 2007
25
[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. 9 38
17264033 2007
26
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. 9 38
16837223 2006
27
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. 9 38
16378744 2006
28
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]. 9 38
16624026 2006
29
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 9 38
16287098 2005
30
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. 9 38
16219627 2005
31
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. 9 38
15649123 2005
32
Enzyme replacement therapy in mucopolysaccharidosis type I. 9 38
15895714 2005
33
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. 9 38
15902564 2005
34
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. 9 38
16128602 2005
35
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 9 38
15933803 2005
36
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. 9 38
15308126 2004
37
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. 9 38
15241807 2004
38
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 9 38
15235041 2004
39
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. 9 38
15146464 2004
40
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. 9 38
15309681 2004
41
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. 9 38
12721840 2003
42
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry. 9 38
12649064 2003
43
Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII). 9 38
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. 9 38
12442278 2002
45
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 9 38
12447720 2002
46
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. 9 38
11686941 2001
47
Unusual clinical presentation in two cases of multiple sulfatase deficiency. 9 38
11737681 2001
48
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. 9 38
11414757 2001
49
Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome. 9 38
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. 9 38
11238101 2001

Variations for Mucopolysaccharidosis-Plus Syndrome

ClinVar genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VPS33A NM_022916.6(VPS33A): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs767748011 12:122717464-122717464 12:122232917-122232917

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

74
# 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:

37
# 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
13.75 SGSH NAGLU IDUA IDS HYAL1 HGSNAT
2
Show member pathways
12.51 SGSH NAGLU IDUA IDS HYAL1 GUSB
3
Show member pathways
12.31 SGSH NAGLU IDUA IDS HYAL1 GUSB
4 11.45 SGSH NAGLU IGF2R IDUA IDS HYAL1
5
Show member pathways
10.96 SGSH NAGLU IDUA IDS HYAL1 HGSNAT

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 9.85 SGSH NAGLU IGF2R IDUA HYAL1 GUSB
2 lysosomal lumen GO:0043202 9.61 SGSH NAGLU IDUA IDS HYAL1 GUSB
3 azurophil granule lumen GO:0035578 9.56 GUSB GNS GALNS ARSB
4 ficolin-1-rich granule lumen GO:1904813 9.5 GUSB GNS ARSB
5 lysosome GO:0005764 9.36 VPS33A SGSH NAGLU IGF2R IDUA IDS

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.7 IGF2R HGSNAT GUSB GNS GALNS ARSB
2 carbohydrate metabolic process GO:0005975 9.63 IDUA HYAL1 GUSB
3 metabolic process GO:0008152 9.62 NAGLU IDUA HYAL1 GUSB
4 lysosome organization GO:0007040 9.43 NAGLU ARSB
5 lysosomal transport GO:0007041 9.43 IGF2R HGSNAT ARSB
6 hyaluronan catabolic process GO:0030214 9.4 HYAL1 GUSB
7 keratan sulfate catabolic process GO:0042340 9.37 GNS GALNS
8 chondroitin sulfate catabolic process GO:0030207 9.26 IDUA IDS HYAL1 ARSB
9 glycosaminoglycan catabolic process GO:0006027 9.17 SGSH NAGLU IDUA IDS HGSNAT GUSB

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.65 SGSH NAGLU IDUA IDS HYAL1 GUSB
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.46 NAGLU IDUA HYAL1 GUSB
3 arylsulfatase activity GO:0004065 9.32 ARSH ARSB
4 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 GALNS ARSB
5 sulfuric ester hydrolase activity GO:0008484 9.1 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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