MPSPS
MCID: MCP040
MIFTS: 70

Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Mucopolysaccharidosis-Plus Syndrome

MalaCards integrated aliases for Mucopolysaccharidosis-Plus Syndrome:

Name: Mucopolysaccharidosis-Plus Syndrome 57 73 38
Mucopolysaccharidosis 11 19 58 75 28 53 5 14 38 33
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 58 28 5
Mucopolysaccharidoses 43 71
Mpsps 57 73
Disorders of Glycosaminoglycan Metabolism 33
Mucopolysaccharidosis-Like Plus Disease 58
Mps 19

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders: <1/1000000 (Worldwide) 58
Mucopolysaccharidosis: 1-9/100000 (Netherlands, Australia, Portugal, Germany, Sweden, Norway, Denmark, Poland, Czech Republic, Tunisia, Taiwan, Province of China, Estonia, Worldwide, Europe, Japan, Switzerland, Brazil, Korea, Republic of, Brazil) 1-5/10000 (Saudi Arabia) 1-9/1000000 (United States, United States) 58

Age Of Onset:

Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders: Infancy 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
most patients die in the first years of life


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: 19 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. 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.

MalaCards based summary: Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to hurler-scheie syndrome and mucopolysaccharidosis, type vii. 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 Disease and Metabolism. The drugs Rituximab and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and eye, and related phenotypes are coarse facial features and recurrent respiratory infections

UniProtKB/Swiss-Prot: 73 A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPSPS is an autosomal recessive form characterized by coarse facial features, dysostosis multiplex, hepatosplenomegaly, respiratory difficulties, intellectual disability, 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.

Orphanet: 58 A rare genetic disease characterized by early-onset respiratory difficulties and frequent respiratory infections, congenital heart defects, dysostosis multiplex, hepatosplenomegaly, renal involvement, hematopoietic abnormalities, facial dysmorphism (coarse facial features, large forehead, synophrys, long eyelashes, broad nasal bridge, macroglossia, short neck, and low hairline), and global developmental delay. Laboratory examination shows increased urinary excretion of glycosaminoglycans and increased plasma heparan sulfate, but no lysosomal enzyme deficiency. The disease is usually fatal in the first years of life.

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 08-Dec-2022)

Disease Ontology: 11 A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine.

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, Type X 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 661)
# Related Disease Score Top Affiliating Genes
1 hurler-scheie syndrome 32.7 SUMF1 SGSH NAGLU IDUA IDS GALNS
2 mucopolysaccharidosis, type vii 32.2 SGSH NAGLU M6PR IGF2R IDUA IDS
3 mucopolysaccharidosis, type iiic 32.0 VPS33A SUMF1 SGSH NAGLU IDUA IDS
4 scheie syndrome 32.0 VPS33A SUMF1 SGSH NAGLU M6PR IGF2R
5 mucopolysaccharidosis, type iiid 32.0 SUMF1 SGSH NAGLU IDUA IDS HYAL1
6 mucopolysaccharidosis, type ii 32.0 VPS33A SUMF1 SGSH NAGLU M6PR IGF2R
7 mucopolysaccharidosis, type ivb 31.9 SUMF1 SGSH NAGLU IGF2R IDUA IDS
8 multiple sulfatase deficiency 31.9 SUMF1 IDS GNS GALNS ARSH ARSB
9 mucopolysaccharidosis, type iiib 31.9 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
10 hurler syndrome 31.8 VPS33A SUMF1 SGSH NAGLU M6PR IGF2R
11 osteochondrodysplasia 31.8 IDUA GUSB GLB1 GALNS
12 mucopolysaccharidosis, type vi 31.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
13 mucopolysaccharidosis iv 31.7 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
14 mucopolysaccharidosis, type iiia 31.6 VPS33A SUMF1 SGSH NAGLU M6PR IGF2R
15 mucopolysaccharidosis, type iva 31.6 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
16 mucopolysaccharidosis iii 31.5 VPS33A SUMF1 SGSH NAGLU M6PR IGF2R
17 glycoproteinosis 31.4 GLB1 ARSB
18 charcot-marie-tooth disease, axonal, type 2v 31.0 NAGLU IGF2R
19 metachromatic leukodystrophy 30.8 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
20 umbilical hernia 30.7 IDUA GALNS ARSB
21 inguinal hernia 30.7 NAGLU IDUA IDS ARSB
22 mucolipidoses 30.6 HYAL1 HEXA
23 lysosomal storage disease 30.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
24 mucopolysaccharidoses 30.5 IDUA IDS GUSB GALNS ARSB
25 glycogen storage disease ii 30.4 M6PR IGF2R IDUA
26 fucosidosis 30.3 SGSH NAGLU IDUA GLB1 GALNS
27 mucolipidosis 30.2 NAGLU M6PR IGF2R IDUA GLB1 GALNS
28 kluver-bucy syndrome 30.2 SGSH NAGLU HGSNAT
29 gaucher's disease 30.1 NAGLU M6PR IGF2R IDUA IDS HEXA
30 mucolipidosis ii alpha/beta 30.1 M6PR IGF2R IDUA GUSB ARSH
31 gingival hypertrophy 30.1 IDUA GLB1
32 mannosidosis, alpha b, lysosomal 30.0 SGSH NAGLU IGF2R IDUA GUSB ARSB
33 sandhoff disease 30.0 SGSH NAGLU IGF2R HEXB HEXA GLB1
34 gangliosidosis 30.0 SUMF1 SGSH NAGLU IGF2R IDUA HEXB
35 adenine phosphoribosyltransferase deficiency 29.9 GALNS APRT
36 ceroid lipofuscinosis, neuronal, 3 29.9 SGSH NAGLU M6PR IGF2R
37 gm2 gangliosidosis 29.8 SGSH NAGLU IGF2R IDUA HEXB HEXA
38 gm2-gangliosidosis, ab variant 29.8 SUMF1 HEXB HEXA GLB1
39 gm1-gangliosidosis, type ii 29.8 IDS HEXB GLB1 GALNS
40 gm1 gangliosidosis 29.8 SUMF1 SGSH NAGLU IGF2R IDUA IDS
41 leukodystrophy 29.8 SUMF1 IDUA HEXA ARSH ARSB
42 aspartylglucosaminuria 29.7 M6PR IGF2R IDUA BLOC1S1
43 krabbe disease 29.7 SGSH NAGLU M6PR IGF2R IDUA IDS
44 mucolipidosis iii alpha/beta 29.7 NAGLU M6PR IGF2R GUSB ARSB
45 galactosialidosis 29.6 NAGLU M6PR IGF2R IDUA GLB1 GALNS
46 tay-sachs disease 29.5 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
47 sphingolipidosis 29.1 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
48 neuronal ceroid lipofuscinosis 29.0 SUMF1 SGSH NAGLU M6PR IGF2R IDUA
49 mucopolysaccharidosis, type ix 11.6
50 mucopolysaccharidosis, type x 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 30 (show top 50) (show all 99)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse facial features 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000280
2 recurrent respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002205
3 flexion contracture 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001371
4 dysostosis multiplex 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000943
5 anemia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001903
6 thrombocytopenia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001873
7 hepatosplenomegaly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001433
8 global developmental delay 30 Very rare (1%) HP:0001263
9 macroglossia 58 30 Very rare (1%) Frequent (79-30%)
HP:0000158
10 joint stiffness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001387
11 optic atrophy 58 30 Very rare (1%) Frequent (79-30%)
HP:0000648
12 absent speech 58 30 Very rare (1%) Frequent (79-30%)
HP:0001344
13 congestive heart failure 58 30 Very rare (1%) Frequent (79-30%)
HP:0001635
14 hypertrophic cardiomyopathy 58 30 Very rare (1%) Frequent (79-30%)
HP:0001639
15 airway obstruction 58 30 Frequent (33%) Frequent (79-30%)
HP:0006536
16 nephrotic syndrome 58 30 Very rare (1%) Frequent (79-30%)
HP:0000100
17 patent ductus arteriosus 58 30 Very rare (1%) Frequent (79-30%)
HP:0001643
18 hyporeflexia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001265
19 pulmonary arterial hypertension 58 30 Frequent (33%) Frequent (79-30%)
HP:0002092
20 hypoalbuminemia 58 30 Very rare (1%) Frequent (79-30%)
HP:0003073
21 thickened skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0001072
22 tachycardia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001649
23 respiratory distress 58 30 Very rare (1%) Frequent (79-30%)
HP:0002098
24 heparan sulfate excretion in urine 58 30 Frequent (33%) Frequent (79-30%)
HP:0002159
25 leukopenia 58 30 Very rare (1%) Frequent (79-30%)
HP:0001882
26 inability to walk 58 30 Very rare (1%) Frequent (79-30%)
HP:0002540
27 recurrent gastroenteritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0031123
28 nystagmus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000639
29 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
30 hydrocephalus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000238
31 short neck 58 30 Very rare (1%) Occasional (29-5%)
HP:0000470
32 hypotonia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001252
33 skeletal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002652
34 pectus carinatum 58 30 Very rare (1%) Occasional (29-5%)
HP:0000768
35 short nose 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003196
36 thick vermilion border 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012471
37 abnormality of retinal pigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007703
38 prominent forehead 58 30 Very rare (1%) Occasional (29-5%)
HP:0011220
39 full cheeks 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000293
40 hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100790
41 epicanthus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000286
42 mitral regurgitation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001653
43 telecanthus 58 30 Very rare (1%) Occasional (29-5%)
HP:0000506
44 conjunctivitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000509
45 sepsis 58 30 Very rare (1%) Occasional (29-5%)
HP:0100806
46 abnormality of coagulation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001928
47 enlarged kidney 58 30 Very rare (1%) Occasional (29-5%)
HP:0000105
48 long eyelashes 58 30 Very rare (1%) Occasional (29-5%)
HP:0000527
49 lumbar hyperlordosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002938
50 deep palmar crease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006191

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Neck:
short neck

Head And Neck Mouth:
macroglossia
full lips

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

Head And Neck Nose:
broad nasal bridge
broad nose

Skeletal Hands:
bullet-shaped phalanges
hand contractures
metacarpal pointing

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

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

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

Skeletal Feet:
foot deformities

Skeletal Spine:
vertebral dysplasia

Clinical features from OMIM®:

617303 (Updated 08-Dec-2022)

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

25 (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:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.42 APRT ARSB GALNS GLB1 GUSB HEXA
2 homeostasis/metabolism MP:0005376 10.39 APRT ARSB BLOC1S1 GALNS GLB1 GUSB
3 nervous system MP:0003631 10.34 ARSB GLB1 GNS HEXA HEXB HGSNAT
4 growth/size/body region MP:0005378 10.32 APRT ARSB GLB1 GUSB HEXA HEXB
5 cellular MP:0005384 10.31 ARSB BLOC1S1 GALNS GLB1 GNS GUSB
6 liver/biliary system MP:0005370 10.28 GLB1 HEXA HEXB HGSNAT HYAL1 IDS
7 behavior/neurological MP:0005386 10.28 APRT ARSB GLB1 GNS GUSB HEXA
8 limbs/digits/tail MP:0005371 10.26 ARSB GUSB HEXA HEXB HGSNAT IDS
9 immune system MP:0005387 10.18 APRT GLB1 GNS HEXB HGSNAT HYAL1
10 craniofacial MP:0005382 10.16 ARSB GUSB HEXA HEXB IDS IDUA
11 skeleton MP:0005390 10.16 ARSB GALNS GLB1 GUSB HEXA HEXB
12 hearing/vestibular/ear MP:0005377 10.04 ARSB GUSB HEXA HEXB IDS IDUA
13 reproductive system MP:0005389 10.02 APRT ARSB GLB1 GUSB HEXA HEXB
14 vision/eye MP:0005391 9.9 ARSB BLOC1S1 GALNS HEXA HEXB IDS
15 hematopoietic system MP:0005397 9.83 APRT ARSB GLB1 GNS GUSB HEXB
16 mortality/aging MP:0010768 9.53 APRT BLOC1S1 GLB1 GNS GUSB HEXA

Drugs & Therapeutics for Mucopolysaccharidosis-Plus Syndrome

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

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rituximab Approved Phase 4 174722-31-7
2
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
3
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 4112 126941
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5 Pharmaceutical Solutions Phase 4
6 Antirheumatic Agents Phase 4
7 Antineoplastic Agents, Immunological Phase 4
8 Immunosuppressive Agents Phase 4
9 Dermatologic Agents Phase 4
10 Immunologic Factors Phase 4
11 Immunoglobulins Phase 4
12 Antibodies Phase 4
13 Antimetabolites Phase 4
14 Folic Acid Antagonists Phase 4
15 Immunoglobulins, Intravenous Phase 4
16 Folate Phase 4
17 Vitamin B9 Phase 4
18 Vitamin B Complex Phase 4
19 Antibodies, Blocking Phase 4
20 gamma-Globulins Phase 4
21 Rho(D) Immune Globulin Phase 4
22
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
23
Lysine Approved, Nutraceutical Phase 2, Phase 3 56-87-1 5962
24 Somatomedin B Phase 2, Phase 3
25 Interleukin 1 Receptor Antagonist Protein Phase 2, Phase 3
26
Losartan Approved Phase 2 114798-26-4 3961
27
Angiotensin II Approved, Investigational Phase 2 68521-88-0, 11128-99-7, 4474-91-3 172198
28
Coenzyme M Approved, Investigational Phase 2 3375-50-6 598 23662354
29
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
30
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
31
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
32
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
33
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
34
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
35
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
36
Prednisolone Approved, Vet_approved Phase 2 50-24-8 4894 5755
37
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5 1875
38
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 4159 6741
39
Azathioprine Approved Phase 1, Phase 2 446-86-6 2265
40
Melphalan Approved Phase 2 148-82-3 4053 460612
41
Hydroxyurea Approved Phase 2 127-07-1 3657
42
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
43
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
44
Acetylcysteine Approved, Investigational Phase 2 616-91-1 581 12035
45
Tocopherol Approved, Investigational Phase 2 1406-66-2
46
Adalimumab Approved, Experimental Phase 1, Phase 2 331731-18-1
47
Busulfan Approved, Investigational Phase 1, Phase 2 55-98-1 2478
48
Fludarabine Approved Phase 1, Phase 2 75607-67-9, 21679-14-1 30751 657237
49
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
50
Alemtuzumab Approved, Investigational Phase 2 216503-57-0

Interventional clinical trials:

(show top 50) (show all 202)
# 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 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
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 Prospective, Multicenter, Single-arm, Open-label, Interventional Phase IV Study to Evaluate the Safety and Efficacy of Idursulfase (r-DNA Origin) (Elaprase™) in Indian Pediatric and Adult Population With Hunter Syndrome (Mucopolysaccharidosis II) Recruiting NCT05058391 Phase 4
6 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
7 A Phase 4, Single-arm, Open-label Safety and Efficacy Study of Aldurazyme® (Laronidase) as Enzyme Replacement Therapy in Participants With Mucopolysaccharidosis I (MPS I) in China Recruiting NCT05134571 Phase 4 Laronidase
8 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
9 Open-Label Multicenter Extension Study to Further Evaluate Safety, Tolerability and Efficacy of Intracerebroventricular AX 250 Treatment in Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B) Patients Not yet recruiting NCT05492799 Phase 4 AX 250
10 An Open-label, Multicenter, Phase 4 Study to Assess the Effects of a Prophylactic Immune Tolerizing Regimen in MPS II Treatment-Naïve Patients Planned to Receive ELAPRASE Who Are at Risk of Developing Persistent Neutralizing Antibodies Not yet recruiting NCT05494593 Phase 4 ELAPRASE;Rituximab;Methotrexate;Intravenous Immunoglobulin (IVIG)
11 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
12 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
13 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
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 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
16 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
17 A Multicenter, Multinational, Open-Label Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I Completed NCT00146770 Phase 3
18 A Phase II/III Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03568175 Phase 2, Phase 3 JR-141
19 A Safety Confirmatory Study of JC0498 (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients Completed NCT00258011 Phase 3
20 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
21 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
22 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
23 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
24 Study of Recombinant Human N-acetylgalactosamine 4-sulfatase (rhASB) in Patients With MPS VI Completed NCT00067470 Phase 3 Placebo;N-acetylgalactosamine 4-sulfatase
25 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
26 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
27 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
28 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
29 A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II Recruiting NCT04573023 Phase 3 JR-141;Idursulfase;JR-141 or Idursulfase
30 Multicenter, Open-Label, Multi-cohort Study to Evaluate Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Drug Product GNR 055 (JSC "GENERIUM", Russia) in Patients With Mucopolysaccharidosis Type II Recruiting NCT05208281 Phase 2, Phase 3 GNR-055 1.0-2.0-3.0 mg/kg;GNR-055 2.0 mg/kg;GNR-055 3.0 mg/kg
31 A Phase 2/3, Multicenter, Double-Blind, Randomized Study to Determine the Efficacy and Safety of DNL310 vs Idursulfase in Pediatric Participants With Neuronopathic or Non-Neuronopathic Mucopolysaccharidosis Type II Recruiting NCT05371613 Phase 2, Phase 3 DNL310;Idursulfase
32 A Phase 1/2/3 Multicenter, Open-Label Study to Evaluate the Efficacy, Safety, Tolerability, and Pharmacodynamics of RGX-121 in Pediatric Subjects With MPS II (Hunter Syndrome) Recruiting NCT03566043 Phase 2, Phase 3
33 An Extension Study of JR-141 in Patients With Mucopolysaccharidosis Type II Active, not recruiting NCT04348136 Phase 2, Phase 3 JR-141
34 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
35 Open-label Pilot Study of the Effects of Anakinra in Mucopolysaccharidosis (MPS) III Active, not recruiting NCT04018755 Phase 2, Phase 3
36 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
37 An Extension Study of JR-141 to Evaluate the Long-term Safety and Efficacy in Mucopolysaccharidosis Type II (Hunter Syndrome) Male Subjects Not yet recruiting NCT05594992 Phase 3 JR-141
38 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)
39 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
40 A Randomized Clinical Trial to Evaluate the Effects of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI Unknown status NCT03632213 Phase 2 Losartan;Placebo
41 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
42 Allogeneic Hematopoietic Stem Cell Transplantation for Standard Risk Inherited Metabolic Disorders Completed NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
43 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
44 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
45 Hematopoietic Stem Cell Transplantation for Hurler Syndrome, Maroteaux Lamy Syndrome (MPS VI), and Alpha Mannosidase Deficiency (Mannosidosis) Completed NCT00176917 Phase 2 Busulfan, Cyclophosphamide, ATG
46 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
47 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
48 Phase II Study of JR-141 in Patients With Mucopolysaccharidosis II Completed NCT03359213 Phase 2 JR-141
49 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
50 A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]

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 28
2 Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 28 VPS33A

Anatomical Context for Mucopolysaccharidosis-Plus Syndrome

Organs/tissues related to Mucopolysaccharidosis-Plus Syndrome:

MalaCards : Heart, Bone, Eye, Bone Marrow, Skin, Brain, Spinal Cord
ODiseA: Blood And Bone Marrow, Kidney

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 4225)
# Title Authors PMID Year
1
The lysosomal disease caused by mutant VPS33A. 62 57 5
31070736 2019
2
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms. 62 57 5
28013294 2017
3
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation. 57 5
27547915 2017
4
Enhancement of drug delivery: enzyme-replacement therapy for murine Morquio A syndrome. 53 62
20332769 2010
5
Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). 53 62
20138557 2010
6
Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). 53 62
19773189 2010
7
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 53 62
19587708 2009
8
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 53 62
19632871 2009
9
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. 53 62
19823584 2009
10
Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia. 53 62
18584975 2009
11
Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. 53 62
19479962 2009
12
Descriptively quantitative relationship between mutated N-acetylgalactosamine-6-sulfatase and mucopolysaccharidosis IVA. 53 62
19373925 2009
13
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis. 53 62
18344557 2008
14
Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula. 53 62
18218046 2008
15
Enzyme replacement therapy in a murine model of Morquio A syndrome. 53 62
18056156 2008
16
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency. 53 62
18157819 2008
17
Effect of 'attenuated' mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase. 53 62
17876718 2007
18
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 53 62
17718826 2007
19
Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. 53 62
17712420 2007
20
Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins. 53 62
17498992 2007
21
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 53 62
17460717 2007
22
Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. 53 62
17336563 2007
23
International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. 53 62
17347914 2007
24
N-acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples. 53 62
17027703 2007
25
[Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects]. 53 62
17264033 2007
26
[Detection of two novel mutations of iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II]. 53 62
17284421 2007
27
Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. 53 62
16837223 2006
28
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. 53 62
16378744 2006
29
[Detection of a new mutation (1343-TT) in the iduronate-2-sulfatase gene from a Chinese patient with mucopolysaccharidosis type II]. 53 62
16624026 2006
30
Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A). 53 62
16287098 2005
31
Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase. 53 62
16219627 2005
32
Treatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector. 53 62
15649123 2005
33
Enzyme replacement therapy in mucopolysaccharidosis type I. 53 62
15895714 2005
34
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. 53 62
15902564 2005
35
Galsulfase: arylsulfatase B, BM 102, recombinant human arylsulfatase B, recombinant human N-acetylgalactosamine-4-sulfatase, rhASB. 53 62
16128602 2005
36
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan. 53 62
15933803 2005
37
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients. 53 62
15241807 2004
38
Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. 53 62
15308126 2004
39
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene. 53 62
15235041 2004
40
General implications for CpG hot spot mutations: methylation patterns of the human iduronate-2-sulfatase gene locus. 53 62
15146464 2004
41
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. 53 62
15309681 2004
42
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype. 53 62
12721840 2003
43
Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry. 53 62
12649064 2003
44
Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII). 53 62
14642000 2003
45
Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene. 53 62
12442278 2002
46
[Ocular Manifestation of Mucopolysaccharidosis I-S (Scheie's Syndrome)]. 53 62
12447720 2002
47
Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro. 53 62
11686941 2001
48
Unusual clinical presentation in two cases of multiple sulfatase deficiency. 53 62
11737681 2001
49
Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. 53 62
11414757 2001
50
Findings in the anterior segment on ultrasound biomicroscopy in Maroteaux-Lamy syndrome. 53 62
11322427 2001

Variations for Mucopolysaccharidosis-Plus Syndrome

ClinVar genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS33A NM_022916.6(VPS33A):c.1492C>T (p.Arg498Trp) SNV Pathogenic
374985 rs767748011 GRCh37: 12:122717464-122717464
GRCh38: 12:122232917-122232917
2 VPS33A NM_022916.6(VPS33A):c.599G>C (p.Arg200Pro) SNV Likely Pathogenic
1500222 rs200032973 GRCh37: 12:122735531-122735531
GRCh38: 12:122250984-122250984
3 VPS33A NM_022916.6(VPS33A):c.1420A>G (p.Met474Val) SNV Uncertain Significance
1029869 rs771083966 GRCh37: 12:122720353-122720353
GRCh38: 12:122235806-122235806
4 VPS33A NM_022916.6(VPS33A):c.1457C>T (p.Ser486Leu) SNV Uncertain Significance
1029870 rs1188661941 GRCh37: 12:122717499-122717499
GRCh38: 12:122232952-122232952
5 VPS33A NM_022916.6(VPS33A):c.1440+23G>A SNV Benign
1237523 GRCh37: 12:122720310-122720310
GRCh38: 12:122235763-122235763
6 VPS33A NM_022916.6(VPS33A):c.1165-82GT[19] MICROSAT Benign
1256644 GRCh37: 12:122723317-122723318
GRCh38: 12:122238770-122238771
7 HGSNAT NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) SNV Not Provided
1237 rs121908285 GRCh37: 8:43037305-43037305
GRCh38: 8:43182162-43182162
8 HGSNAT NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg) SNV Not Provided
830365 rs1803654249 GRCh37: 8:43027493-43027493
GRCh38: 8:43172350-43172350
9 HGSNAT NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys) SNV Not Provided
830366 rs1372286994 GRCh37: 8:43052985-43052985
GRCh38: 8:43197842-43197842
10 HGSNAT NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp) SNV Not Provided
252961 rs370717845 GRCh37: 8:43016605-43016605
GRCh38: 8:43161462-43161462
11 NAGLU NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp) SNV Not Provided
830368 rs370523900 GRCh37: 17:40689561-40689561
GRCh38: 17:42537543-42537543
12 SGSH NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) SNV Not Provided
279891 rs144143780 GRCh37: 17:78184621-78184621
GRCh38: 17:80210822-80210822
13 SGSH NM_000199.5(SGSH):c.1080del (p.Val361fs) DEL Not Provided
518268 rs770947426 GRCh37: 17:78184680-78184680
GRCh38: 17:80210881-80210881
14 NAGLU NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) SNV Not Provided
1562 rs104894592 GRCh37: 17:40693092-40693092
GRCh38: 17:42541074-42541074
15 NAGLU NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) SNV Not Provided
553204 rs749140168 GRCh37: 17:40693203-40693203
GRCh38: 17:42541185-42541185
16 NAGLU NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) SNV Not Provided
1566 rs104894595 GRCh37: 17:40695586-40695586
GRCh38: 17:42543568-42543568
17 NAGLU NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) SNV Not Provided
1565 rs104894594 GRCh37: 17:40695951-40695951
GRCh38: 17:42543933-42543933
18 NAGLU NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) SNV Not Provided
522823 rs148881970 GRCh37: 17:40695858-40695858
GRCh38: 17:42543840-42543840
19 NAGLU NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) SNV Not Provided
632282 rs147036053 GRCh37: 17:40695924-40695924
GRCh38: 17:42543906-42543906
20 SGSH NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) SNV Not Provided
5111 rs104894637 GRCh37: 17:78190883-78190883
GRCh38: 17:80217084-80217084
21 NAGLU NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) SNV Not Provided
830367 rs1353058781 GRCh37: 17:40695513-40695513
GRCh38: 17:42543495-42543495
22 SGSH NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) SNV Not Provided
5108 rs104894636 GRCh37: 17:78190860-78190860
GRCh38: 17:80217061-80217061
23 CARD14, SGSH NM_000199.5(SGSH):c.734G>A (p.Arg245His) SNV Not Provided
5107 rs104894635 GRCh37: 17:78187614-78187614
GRCh38: 17:80213815-80213815
24 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Not Provided
30459 rs138504221 GRCh37: 17:78185927-78185927
GRCh38: 17:80212128-80212128

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 directly related to Mucopolysaccharidosis-Plus Syndrome:

# Pathway Source
1 Mucopolysaccharidoses Reactome 66
2 MPS IV - Morquio syndrome B Reactome 66
3 MPS IX - Natowicz syndrome Reactome 66

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 VPS33A SGSH NAGLU IDUA IDS HYAL1
2
Show member pathways
13.68 APRT ARSB ARSH GALNS GLB1 GNS
3
Show member pathways
12.65 APRT ARSB GALNS GLB1 GNS GUSB
4
Show member pathways
12.54 ARSB GALNS GLB1 GNS GUSB HEXA
5
Show member pathways
12.33 IDUA IDS HYAL1 HEXB HEXA ARSB
6
Show member pathways
12.16 ARSB ARSH GLB1 HEXA HEXB SUMF1
7
Show member pathways
12.01 M6PR IGF2R GNS BLOC1S1
8
Show member pathways
11.83 HEXB HEXA GNS GLB1 GALNS
9
Show member pathways
11.72 SUMF1 ARSH ARSB
10
Show member pathways
11.56 SGSH NAGLU IDUA IDS HGSNAT GUSB
11
Show member pathways
11.1 ARSB GALNS GLB1 GNS GUSB HGSNAT
12 10.8 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 10.37 APRT ARSB GALNS GLB1 GNS GUSB
2 lysosome GO:0005764 10.03 ARSB BLOC1S1 GALNS GLB1 GNS GUSB
3 ficolin-1-rich granule lumen GO:1904813 9.97 GUSB GNS GLB1 ARSB
4 azurophil granule lumen GO:0035578 9.93 ARSB GALNS GLB1 GNS GUSB HEXB
5 lysosomal lumen GO:0043202 9.74 ARSB GALNS GLB1 GNS GUSB HEXA
6 azurophil granule GO:0042582 9.71 HEXB HEXA
7 beta-N-acetylhexosaminidase complex GO:1905379 9.62 HEXB HEXA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 10.11 IDUA HYAL1 HEXB HEXA GUSB GLB1
2 lysosome organization GO:0007040 10.1 NAGLU HEXB HEXA ARSB
3 lysosomal transport GO:0007041 10.01 M6PR IGF2R HGSNAT ARSB
4 hyaluronan catabolic process GO:0030214 9.97 GUSB HEXA HEXB HYAL1
5 glycosphingolipid metabolic process GO:0006687 9.92 SUMF1 HEXB GLB1
6 chondroitin sulfate catabolic process GO:0030207 9.92 IDUA HYAL1 HEXB GUSB
7 glycosaminoglycan metabolic process GO:0030203 9.88 GNS HEXA HEXB
8 ganglioside catabolic process GO:0006689 9.85 HEXB HEXA
9 maintenance of location in cell GO:0051651 9.84 HEXB HEXA
10 keratan sulfate catabolic process GO:0042340 9.81 GNS GLB1
11 metabolic process GO:0008152 9.8 NAGLU IDUA HYAL1 HEXB HEXA GUSB
12 dermatan sulfate catabolic process GO:0030209 9.76 HEXA HEXB IDS IDUA
13 sexual reproduction GO:0019953 9.73 HEXB HEXA
14 heparan sulfate proteoglycan catabolic process GO:0030200 9.65 SGSH NAGLU IDS HGSNAT GUSB
15 carbohydrate derivative metabolic process GO:1901135 9.61 NAGLU HEXB HEXA
16 glycosaminoglycan catabolic process GO:0006027 9.47 SGSH NAGLU IDUA IDS GUSB GNS

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 9.97 SGSH NAGLU IDUA IDS HYAL1 HEXB
2 arylsulfatase activity GO:0004065 9.8 GALNS ARSH ARSB
3 retromer complex binding GO:1905394 9.78 M6PR IGF2R
4 beta-N-acetylhexosaminidase activity GO:0004563 9.76 HEXB HEXA
5 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.73 HEXB HEXA
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.73 GLB1 GUSB HEXA HEXB IDUA
7 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.67 GALNS ARSB
8 N-acetylglucosamine-6-sulfatase activity GO:0008449 9.58 SGSH GNS
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.5 NAGLU IDUA HYAL1 HEXB HEXA GUSB
10 sulfuric ester hydrolase activity GO:0008484 9.28 SGSH IDS GNS GALNS ARSH ARSB

Sources for Mucopolysaccharidosis-Plus Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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