MPSPS
MCID: MCP040
MIFTS: 70

Mucopolysaccharidosis-Plus Syndrome (MPSPS)

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-Plus Syndrome

MalaCards integrated aliases for Mucopolysaccharidosis-Plus Syndrome:

Name: Mucopolysaccharidosis-Plus Syndrome 57 72 36 29 6
Mucopolysaccharidosis 12 73 20 58 36 29 54 6 15 39
Mucopolysaccharidoses 44 70
Mpsps 57 72
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 58
Mucopolysaccharidosis-Like Plus Disease 58
Mps 20

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®:

57 (Updated 20-May-2021)
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

GARD : 20 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 hurler-scheie syndrome and scheie syndrome. 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 Diclofenac and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include brain, bone 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® : 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) (Updated 20-May-2021)

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 : 72 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 : 73 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 525)
# Related Disease Score Top Affiliating Genes
1 hurler-scheie syndrome 33.2 SUMF1 SGSH NAGLU IDUA GALNS ARSB
2 scheie syndrome 33.2 SUMF1 SGSH NAGLU IDUA IDS HYAL1
3 mucopolysaccharidosis, type vii 33.2 SGSH NAGLU M6PR IDUA IDS HGSNAT
4 mucopolysaccharidosis, type ii 33.1 SUMF1 SGSH NAGLU M6PR IDUA IDS
5 hurler syndrome 33.1 SUMF1 NAGLU IDUA IDS GUSB GNS
6 mucopolysaccharidosis, type iiic 33.1 SUMF1 SGSH NAGLU IDUA IDS HGSNAT
7 mucopolysaccharidosis, type iiid 33.0 SUMF1 SGSH NAGLU IDUA IDS HYAL1
8 mucopolysaccharidosis, type vi 33.0 SUMF1 NAGLU M6PR IDUA IDS HGSNAT
9 mucopolysaccharidosis, type iiib 32.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
10 mucopolysaccharidosis, type iiia 32.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
11 mucopolysaccharidosis iii 32.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
12 mucopolysaccharidosis, type ivb 32.9 SUMF1 SGSH NAGLU IDUA IDS HYAL1
13 mucopolysaccharidosis, type iva 32.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
14 mucopolysaccharidosis, type ix 32.9 HYAL1 HGSNAT
15 mucopolysaccharidosis iv 32.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
16 morquio syndrome 32.5 GUSB GLB1 GALNS ARSH APRT
17 multiple sulfatase deficiency 32.3 SUMF1 GNS GALNS ARSH ARSB
18 lysosomal storage disease 31.9 SUMF1 SGSH NAGLU M6PR IDUA IDS
19 metachromatic leukodystrophy 31.8 SUMF1 SGSH M6PR IDUA IDS HEXA
20 gangliosidosis 30.9 HEXB HEXA GLB1 GALNS
21 mucolipidosis 30.8 SUMF1 M6PR IDUA HEXA GLB1 GALNS
22 gaucher's disease 30.7 M6PR IDUA HEXA GUSB ARSH
23 fucosidosis 30.7 NAGLU IDUA GLB1 GALNS ARSB
24 mucolipidoses 30.6 HYAL1 HEXA
25 mucopolysaccharidoses 30.5 SGSH NAGLU IDUA HGSNAT GUSB CARD14
26 sandhoff disease 30.5 HEXB HEXA GLB1
27 mucolipidosis ii alpha/beta 30.4 NAGLU M6PR IDUA GUSB GALNS ARSH
28 kluver-bucy syndrome 30.4 SGSH NAGLU HGSNAT
29 gm2 gangliosidosis 30.4 HEXB HEXA GLB1
30 gm1 gangliosidosis 30.4 SUMF1 SGSH NAGLU M6PR IDUA HEXA
31 krabbe disease 30.3 SGSH M6PR IDUA IDS GLB1 ARSB
32 tay-sachs disease 30.2 SGSH M6PR IDUA IDS HEXB HEXA
33 sphingolipidosis 30.2 SUMF1 SGSH M6PR IDUA HEXB HEXA
34 galactosialidosis 30.2 M6PR IDUA GLB1 GALNS
35 leukodystrophy 30.2 SUMF1 IDUA ARSH ARSB
36 mannosidosis, alpha b, lysosomal 30.1 SGSH IDUA GUSB
37 mucolipidosis iii alpha/beta 30.1 NAGLU M6PR GUSB ARSB
38 gm1-gangliosidosis, type ii 30.1 IDS HEXB GLB1
39 glycoproteinosis 30.1 GLB1 GALNS ARSB
40 adenine phosphoribosyltransferase deficiency 29.9 GALNS APRT
41 osteochondrodysplasia 11.0
42 multiple pterygium syndrome, escobar variant 11.0
43 mucopolysaccharidosis type 6, slowly progressing 11.0
44 mucopolysaccharidosis type 6, rapidly progressing 11.0
45 carpal tunnel syndrome 11.0
46 spondyloepiphyseal dysplasia with congenital joint dislocations 10.9
47 myofascial pain syndrome 10.9
48 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.9
49 n acetyltransferase deficiency 10.9
50 winchester syndrome 10.9

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 89)
# 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 psychomotor retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0025356
8 hepatosplenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001433
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 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
13 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
14 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
15 nephrotic syndrome 58 31 frequent (33%) Frequent (79-30%) HP:0000100
16 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
17 hyporeflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001265
18 pulmonary arterial hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0002092
19 hypoalbuminemia 58 31 frequent (33%) Frequent (79-30%) HP:0003073
20 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
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 airway obstruction 31 frequent (33%) HP:0006536
28 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
29 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
30 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
31 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
32 skeletal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002652
33 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
34 short nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0003196
35 thick vermilion border 58 31 occasional (7.5%) Occasional (29-5%) HP:0012471
36 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
37 prominent forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0011220
38 full cheeks 58 31 occasional (7.5%) Occasional (29-5%) HP:0000293
39 hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100790
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 abnormality of coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001928
46 enlarged kidney 58 31 occasional (7.5%) Occasional (29-5%) HP:0000105
47 long eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000527
48 deep palmar crease 58 31 occasional (7.5%) Occasional (29-5%) HP:0006191
49 thick hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0100874
50 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Neck:
short neck

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

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

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

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

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

Head And Neck Mouth:
macroglossia
full lips

Abdomen Spleen:
splenomegaly

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

Hematology:
anemia
thrombocytopenia
neutropenia
coagulation defects
bone marrow hypoplasia (in some patients)
more
Genitourinary Kidneys:
nephrotic syndrome
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 (Updated 20-May-2021)

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

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-109 9.74 BLOC1S1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.74 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.74 ARSB
4 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.74 GALNS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.74 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.74 ARSB
7 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.74 BLOC1S1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.74 IDS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.74 BLOC1S1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.74 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.74 IDS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.74 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.74 GALNS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.74 IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.74 GALNS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-27 9.74 ARSB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.74 ARSB
18 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.74 IDS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.74 BLOC1S1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.74 IDS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.74 GALNS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.74 GALNS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.74 BLOC1S1 GALNS IDS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.74 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 ARSB BLOC1S1 CARD14 GALNS GLB1 GNS
2 behavior/neurological MP:0005386 10.41 APRT ARSB GLB1 GNS GUSB HEXA
3 hematopoietic system MP:0005397 10.39 APRT ARSB CARD14 GLB1 GNS GUSB
4 growth/size/body region MP:0005378 10.35 APRT ARSB CARD14 GLB1 GUSB HEXA
5 homeostasis/metabolism MP:0005376 10.34 APRT ARSB BLOC1S1 GALNS GLB1 GUSB
6 mortality/aging MP:0010768 10.27 APRT BLOC1S1 CARD14 GLB1 GNS GUSB
7 immune system MP:0005387 10.26 APRT CARD14 GLB1 GNS HEXB HGSNAT
8 craniofacial MP:0005382 10.2 ARSB GUSB HEXA HEXB IDS IDUA
9 liver/biliary system MP:0005370 10.1 GLB1 HEXA HEXB HGSNAT HYAL1 IDS
10 renal/urinary system MP:0005367 10.1 APRT ARSB GALNS GLB1 GUSB HEXA
11 limbs/digits/tail MP:0005371 10.09 ARSB GUSB HEXA HEXB HGSNAT IDS
12 hearing/vestibular/ear MP:0005377 10.07 ARSB GUSB HEXA HEXB IDS IDUA
13 integument MP:0010771 10.06 APRT CARD14 GUSB IDS IDUA NAGLU
14 nervous system MP:0003631 10.06 ARSB GLB1 GNS HEXA HEXB HGSNAT
15 reproductive system MP:0005389 9.81 APRT ARSB GLB1 GUSB HEXA HEXB
16 skeleton MP:0005390 9.8 ARSB GALNS GLB1 GUSB HEXA HEXB
17 vision/eye MP:0005391 9.36 ARSB BLOC1S1 GALNS HEXA HEXB IDS

Drugs & Therapeutics for Mucopolysaccharidosis-Plus Syndrome

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

(show top 50) (show all 82)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
3 Immunoglobulins Phase 4
4 Antibodies Phase 4
5 Clavulanic Acids Phase 4
6 Arnica Phase 4
7
Lysine Approved, Nutraceutical Phase 2, Phase 3 56-87-1 5962
8 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
9
tannic acid Approved Phase 2 1401-55-4
10
Mesna Approved, Investigational Phase 2 3375-50-6 598
11
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
14
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
15
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
16
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
17
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
18
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
19
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
20
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
21
Hydroxyurea Approved Phase 2 127-07-1 3657
22
Melphalan Approved Phase 2 148-82-3 4053 460612
23
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
24
Fludarabine Approved Phase 1, Phase 2 21679-14-1, 75607-67-9 30751
25
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
26
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
27
Tocopherol Approved, Investigational Phase 2 1406-66-2
28
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
29
rituximab Approved Phase 2 174722-31-7 10201696
30
Losartan Approved Phase 2 114798-26-4 3961
31
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 4474-91-3, 11128-99-7 172198
32
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1 16219006
33
Zinc Approved, Investigational Phase 1, Phase 2 7440-66-6 32051
34
alemtuzumab Approved, Investigational Phase 2 216503-57-0
35
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
36
Busulfan Approved, Investigational Phase 2 55-98-1 2478
37
Morphine Approved, Investigational Phase 2 57-27-2 5288826
38
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
39
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
40 Tocotrienol Investigational Phase 2 6829-55-6
41 Anti-Bacterial Agents Phase 2
42 Antibiotics, Antitubercular Phase 2
43 Antitubercular Agents Phase 2
44 Antifungal Agents Phase 2
45 Cyclosporins Phase 2
46 Anti-Infective Agents Phase 2
47 Dermatologic Agents Phase 2
48 Calcineurin Inhibitors Phase 2
49 Methylprednisolone Acetate Phase 2
50 Antimetabolites Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 182)
# 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 Influence of Different Topical Arnica and Mucopolysaccharide Polysulfate on Postoperative Pain, Edema and Trismus After Extraction of Impacted Third Molar Completed NCT04534426 Phase 4 : Arnica montana;Mucopolysaccharide polysulfate
7 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
8 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
9 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
10 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 Unknown status NCT03920540 Phase 3
11 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
12 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
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 Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03568175 Phase 2, Phase 3 JR-141
15 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
16 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
17 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
18 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
19 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
20 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
21 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
22 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
23 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
24 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
25 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
26 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 Active, not recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
27 An Extension Study of JR-141-301 in Patients With Mucopolysaccharidosis II Active, not recruiting NCT04348136 Phase 2, Phase 3 JR-141
28 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
29 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 Active, not recruiting NCT02412787 Phase 2, Phase 3 Idursulfase-IT;Elaprase
30 A Phase Ⅲ Study of JR-141 in Patients With Mucopolysaccharidosis II Not yet recruiting NCT04573023 Phase 3 JR-141;Idursulfase;JR-141 or Idursulfase
31 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)
32 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
33 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
34 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
35 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
36 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
37 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
38 A Phase 1/2 Open-Label Dose-Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Efficacy of Intracerebroventricular AX 250 in Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Completed NCT02754076 Phase 1, Phase 2 AX 250
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 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
41 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141;JR-141;JR-141
42 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)
43 A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI Completed NCT03370653 Phase 2 Odiparcil
44 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
45 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
46 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
47 A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II Completed NCT03128593 Phase 1, Phase 2 JR-141
48 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
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 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

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
2 Mucopolysaccharidosis-Plus Syndrome 29 VPS33A

Anatomical Context for Mucopolysaccharidosis-Plus Syndrome

MalaCards organs/tissues related to Mucopolysaccharidosis-Plus Syndrome:

40
Brain, Bone, Bone Marrow, Heart, Eye, Liver, Spinal Cord

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 3868)
# Title Authors PMID Year
1
The lysosomal disease caused by mutant VPS33A. 61 6 57
31070736 2019
2
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. 61 57 6
28013294 2017
3
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 57 6
27547915 2017
4
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. 61 6 54
10094189 1999
5
Genotype-phenotype correspondence in Sanfilippo syndrome type B. 6 54 61
9443875 1998
6
Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). 61 6
27827379 2017
7
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. 61 6
20852935 2010
8
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. 61 6
21061399 2010
9
Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. 61 6
20040070 2010
10
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). 61 6
18407553 2008
11
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. 61 6
18024218 2008
12
Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands. 6
12490062 2002
13
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. 54 61
20332769 2010
14
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
15
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). 54 61
19773189 2010
16
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 61 54
19632871 2009
17
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 54 61
19587708 2009
18
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 61 54
19823584 2009
19
Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia. 54 61
18584975 2009
20
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 54 61
19479962 2009
21
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. 54 61
19373925 2009
22
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. 61 54
18344557 2008
23
Enzyme replacement therapy in a murine model of Morquio A syndrome. 61 54
18056156 2008
24
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
25
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 61 54
18157819 2008
26
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. 61 54
17876718 2007
27
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 61 54
17718826 2007
28
Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. 54 61
17712420 2007
29
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. 61 54
17498992 2007
30
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 54 61
17460717 2007
31
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. 54 61
17336563 2007
32
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. 61 54
17347914 2007
33
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples. 54 61
17027703 2007
34
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]. 54 61
17284421 2007
35
[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. 61 54
17264033 2007
36
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. 54 61
16837223 2006
37
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. 61 54
16378744 2006
38
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]. 54 61
16624026 2006
39
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 54 61
16287098 2005
40
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. 61 54
16219627 2005
41
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. 54 61
15649123 2005
42
Enzyme replacement therapy in mucopolysaccharidosis type I. 54 61
15895714 2005
43
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
44
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. 61 54
16128602 2005
45
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. 61 54
15902564 2005
46
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
47
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. 54 61
15308126 2004
48
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 61 54
15235041 2004
49
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. 61 54
15146464 2004
50
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. 61 54
15309681 2004

Variations for Mucopolysaccharidosis-Plus Syndrome

ClinVar genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS33A NM_022916.6(VPS33A):c.102+167dup Duplication Pathogenic 1031350 GRCh37: 12:122750679-122750680
GRCh38: 12:122266132-122266133
2 HGSNAT NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) SNV Pathogenic 830365 GRCh37: 8:43027493-43027493
GRCh38: 8:43172350-43172350
3 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) SNV Pathogenic 252961 rs370717845 GRCh37: 8:43016605-43016605
GRCh38: 8:43161462-43161462
4 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) SNV Pathogenic 1562 rs104894592 GRCh37: 17:40693092-40693092
GRCh38: 17:42541074-42541074
5 NAGLU NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) SNV Pathogenic 553204 rs749140168 GRCh37: 17:40693203-40693203
GRCh38: 17:42541185-42541185
6 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) SNV Pathogenic 1566 rs104894595 GRCh37: 17:40695586-40695586
GRCh38: 17:42543568-42543568
7 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) SNV Pathogenic 1565 rs104894594 GRCh37: 17:40695951-40695951
GRCh38: 17:42543933-42543933
8 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) SNV Pathogenic 632282 rs147036053 GRCh37: 17:40695924-40695924
GRCh38: 17:42543906-42543906
9 NAGLU NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) SNV Pathogenic 830367 GRCh37: 17:40695513-40695513
GRCh38: 17:42543495-42543495
10 NAGLU NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) SNV Pathogenic 830368 GRCh37: 17:40689561-40689561
GRCh38: 17:42537543-42537543
11 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV Pathogenic 279891 rs144143780 GRCh37: 17:78184621-78184621
GRCh38: 17:80210822-80210822
12 HGSNAT NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) SNV Pathogenic 830366 GRCh37: 8:43052985-43052985
GRCh38: 8:43197842-43197842
13 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV Pathogenic 1237 rs121908285 GRCh37: 8:43037305-43037305
GRCh38: 8:43182162-43182162
14 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) SNV Pathogenic 522823 rs148881970 GRCh37: 17:40695858-40695858
GRCh38: 17:42543840-42543840
15 SGSH NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) SNV Pathogenic 5108 rs104894636 GRCh37: 17:78190860-78190860
GRCh38: 17:80217061-80217061
16 SGSH NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) SNV Pathogenic 5111 rs104894637 GRCh37: 17:78190883-78190883
GRCh38: 17:80217084-80217084
17 SGSH NM_000199.5(SGSH):c.1080del (p.Val361fs) Deletion Pathogenic 518268 rs770947426 GRCh37: 17:78184680-78184680
GRCh38: 17:80210881-80210881
18 CARD14 , SGSH NM_000199.5(SGSH):c.734G>A (p.Arg245His) SNV Pathogenic 5107 rs104894635 GRCh37: 17:78187614-78187614
GRCh38: 17:80213815-80213815
19 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Pathogenic 30459 rs138504221 GRCh37: 17:78185927-78185927
GRCh38: 17:80212128-80212128
20 VPS33A NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) SNV Pathogenic 374985 rs767748011 GRCh37: 12:122717464-122717464
GRCh38: 12:122232917-122232917
21 VPS33A NM_022916.6(VPS33A):c.1420A>G (p.Met474Val) SNV Uncertain significance 1029869 GRCh37: 12:122720353-122720353
GRCh38: 12:122235806-122235806
22 VPS33A NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu) SNV Uncertain significance 1029870 GRCh37: 12:122717499-122717499
GRCh38: 12:122232952-122232952

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

72
# 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
13.88 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
12.25 SUMF1 HEXB HEXA GLB1 ARSH ARSB
5
Show member pathways
11.69 SUMF1 ARSH ARSB
6
Show member pathways
11.68 HEXB HEXA GNS GLB1
7 11.61 SUMF1 SGSH NAGLU M6PR IDUA IDS
8
Show member pathways
11.08 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 10.03 SGSH NAGLU IDUA HYAL1 HEXB HEXA
2 lysosomal lumen GO:0043202 9.73 SGSH NAGLU IDUA IDS HYAL1 HEXB
3 lysosomal membrane GO:0005765 9.71 VPS33A M6PR HGSNAT BLOC1S1
4 azurophil granule lumen GO:0035578 9.63 HEXB GUSB GNS GLB1 GALNS ARSB
5 ficolin-1-rich granule lumen GO:1904813 9.62 GUSB GNS GLB1 ARSB
6 lysosome GO:0005764 9.53 VPS33A SGSH NAGLU M6PR IDUA IDS
7 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 9.97 HGSNAT HEXB GUSB GNS GLB1 GALNS
2 carbohydrate metabolic process GO:0005975 9.91 IDUA HYAL1 HEXB HEXA GUSB GLB1
3 metabolic process GO:0008152 9.8 NAGLU IDUA HYAL1 HEXB HEXA GUSB
4 glycosphingolipid metabolic process GO:0006687 9.71 SUMF1 HEXB HEXA GLB1
5 lysosome organization GO:0007040 9.67 NAGLU HEXB ARSB
6 lysosomal transport GO:0007041 9.65 M6PR HGSNAT ARSB
7 glycosaminoglycan metabolic process GO:0030203 9.63 SGSH HEXB GNS
8 hyaluronan catabolic process GO:0030214 9.62 HYAL1 HEXB HEXA GUSB
9 keratan sulfate catabolic process GO:0042340 9.55 HEXB HEXA GNS GLB1 GALNS
10 lysosome localization GO:0032418 9.52 VPS33A BLOC1S1
11 ganglioside catabolic process GO:0006689 9.51 HEXB HEXA
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 9.97 SGSH NAGLU IDUA IDS HYAL1 HEXB
2 catalytic activity GO:0003824 9.87 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 9.54 GALNS ARSH ARSB
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 NAGLU IDUA HYAL1 HEXB HEXA GUSB
6 glycosaminoglycan binding GO:0005539 9.49 SGSH GNS
7 beta-N-acetylhexosaminidase activity GO:0004563 9.48 HEXB HEXA
8 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.46 HEXB HEXA
9 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.43 SGSH GNS
10 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.4 GALNS ARSB
11 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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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