MPSPS
MCID: MCP040
MIFTS: 60

Mucopolysaccharidosis-Plus Syndrome (MPSPS)

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

Aliases & Classifications for Mucopolysaccharidosis-Plus Syndrome

MalaCards integrated aliases for Mucopolysaccharidosis-Plus Syndrome:

Name: Mucopolysaccharidosis-Plus Syndrome 58 76 38 6
Mucopolysaccharidosis 12 77 54 38 30 56 15 41
Mucopolysaccharidoses 45 74
Mpsps 58 76
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 60
Mucopolysaccharidosis-Like Plus Disease 60
Mps 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
mucopolysaccharidosis-plus syndrome:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mucopolysaccharidosis-Plus Syndrome

NIH Rare Diseases : 54 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 IMucopolysaccharidosis, Type IIMucopolysaccharidosis, Type IIIMucopolysaccharidosis, Type IVMucopolysaccharidosis, Type VIMucopolysaccharidosis, Type VIIMucopolysaccharidosis, Type IX

MalaCards based summary : Mucopolysaccharidosis-Plus Syndrome, also known as mucopolysaccharidosis, is related to mucopolysaccharidosis, type ii and mucopolysaccharidosis, type iva. 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. Affiliated tissues include bone, brain and heart, and related phenotypes are brain atrophy and cerebral calcification

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

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 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 : 77 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
Mucopolysaccharidosis Type 2, Severe Form

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

(show top 50) (show all 259)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type ii 34.2 ARSH GALNS IDS
2 mucopolysaccharidosis, type iva 34.1 ARSH GALNS
3 scheie syndrome 34.0 GALNS IDUA NAGLU
4 mucopolysaccharidosis, type iiia 33.9 ARSH NAGLU SGSH
5 mucopolysaccharidosis, type vii 33.9 GALNS GUSB IDUA SGSH
6 mucopolysaccharidosis, type vi 33.8 ARSB ARSH GALNS GUSB
7 mucopolysaccharidosis iv 33.7 APRT ARSH GALNS
8 mucopolysaccharidosis iii 33.0 ARSH GNS HGSNAT NAGLU SGSH
9 morquio syndrome 32.7 APRT GALNS
10 metachromatic leukodystrophy 31.3 ARSB ARSH
11 mucopolysaccharidoses 31.1 ARSH GUSB HGSNAT IDUA NAGLU
12 multiple sulfatase deficiency 31.0 ARSB ARSH GALNS GNS IDS SGSH
13 mucolipidosis ii alpha/beta 29.6 ARSH GUSB IGF2R
14 lysosomal storage disease 28.6 ARSB GALNS GUSB HGSNAT IDS IDUA
15 mucopolysaccharidosis, type ivb 12.6
16 mucopolysaccharidosis, type iiib 12.6
17 mucopolysaccharidosis, type iiic 12.6
18 mucopolysaccharidosis, type iiid 12.6
19 mucopolysaccharidosis, type ix 12.5
20 hurler syndrome 12.4
21 hurler-scheie syndrome 12.4
22 mucopolysaccharidosis type 2, severe form 12.3
23 mucopolysaccharidosis type 2, attenuated form 12.3
24 mucopolysaccharidoses, unclassified types 12.1
25 mucopolysaccharidosis type 6, slowly progressing 12.0
26 mucopolysaccharidosis type 6, rapidly progressing 12.0
27 mccallum macadam johnston syndrome 11.3
28 epidermolysis bullosa simplex with mottled pigmentation 11.3
29 myofascial pain syndrome 11.3
30 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.0
31 spondyloepiphyseal dysplasia with congenital joint dislocations 11.0
32 macular dystrophy, corneal 11.0
33 morquio syndrome c 11.0
34 winchester syndrome 11.0
35 natowicz syndrome 11.0
36 arachnoid cysts 11.0
37 mucolipidosis iii alpha/beta 11.0
38 n acetyltransferase deficiency 11.0
39 minimal pigment oculocutaneous albinism type 1 11.0
40 mucolipidoses 10.4
41 hematopoietic stem cell transplantation 10.4
42 autoimmune disease 10.3
43 distal trisomy 3p 10.3
44 carpal tunnel syndrome 10.2
45 mononeuropathy of the median nerve, mild 10.2
46 lymphatic malformation 7 10.2
47 fetal edema 10.2
48 hydrops fetalis 10.2
49 allergic rhinitis 10.2
50 rhinitis 10.2

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:

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

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Head And Neck Mouth:
macroglossia
full lips

Abdomen Spleen:
splenomegaly

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

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

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

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

Skeletal Skull:
j-shaped sella turcica

Head And Neck Nose:
broad nasal bridge
broad nose

Skeletal Feet:
foot deformities

Skeletal Hands:
bullet-shaped phalanges
hand contractures
metacarpal pointing

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

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

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Skin Nails Hair Hair:
coarse hair
hirsutism
low hairlines

Skeletal:
dysostosis multiplex
joint contractures

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

Skeletal Pelvis:
flared iliac wings
acetabular dysplasia
dislocation hips

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

Skin Nails Hair Skin:
thick skin

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

Skeletal Spine:
vertebral dysplasia

Clinical features from OMIM:

617303

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

27 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.7 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.7 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.7 IDS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.7 GALNS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.7 ARSB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.7 ARSB IDS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.7 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.7 GALNS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.7 GALNS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.7 IDS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.7 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.7 GALNS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.7 IDS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.7 ARSB
15 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.7 ARSB IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.7 IDS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.7 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.7 GALNS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.7 ARSB GALNS IDS
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.7 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

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

Drugs & Therapeutics for Mucopolysaccharidosis-Plus Syndrome

Search Clinical Trials , 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 30

Anatomical Context for Mucopolysaccharidosis-Plus Syndrome

MalaCards organs/tissues related to Mucopolysaccharidosis-Plus Syndrome:

42
Bone, Brain, Heart, Skin, Bone Marrow, Liver, Testes

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 643)
# Title Authors Year
1
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings. ( 30755342 )
2019
2
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. ( 29654546 )
2019
3
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542 )
2019
4
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. ( 30653816 )
2019
5
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics. ( 30669586 )
2019
6
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review. ( 30740728 )
2019
7
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. ( 30658664 )
2019
8
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States. ( 30777108 )
2019
9
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. ( 30849633 )
2019
10
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial. ( 30595526 )
2019
11
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB. ( 30635159 )
2019
12
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. ( 30639582 )
2019
13
The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis. ( 30646511 )
2019
14
Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases. ( 30660225 )
2019
15
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. ( 30740618 )
2019
16
Biomarkers in patients with mucopolysaccharidosis type II and IV. ( 30775257 )
2019
17
Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI. ( 30776046 )
2019
18
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene. ( 30797135 )
2019
19
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. ( 30809705 )
2019
20
Enzyme replacement therapy outcomes across the disease spectrum: findings from the mucopolysaccharidosis VI Clinical Surveillance Program. ( 30834539 )
2019
21
Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. ( 30848434 )
2019
22
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. ( 30851722 )
2019
23
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. ( 30083803 )
2018
24
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. ( 29671225 )
2018
25
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. ( 30006231 )
2018
26
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. ( 30070758 )
2018
27
Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media. ( 30049674 )
2018
28
Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy. ( 30047587 )
2018
29
Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS. ( 30064964 )
2018
30
A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II. ( 29863901 )
2018
31
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 29210515 )
2018
32
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS). ( 29866148 )
2018
33
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207 )
2018
34
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. ( 28911234 )
2018
35
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. ( 29251941 )
2018
36
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA. ( 29408731 )
2018
37
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. ( 30593151 )
2018
38
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient. ( 29800929 )
2018
39
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report. ( 30091163 )
2018
40
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. ( 30118150 )
2018
41
A model of mucopolysaccharidosis type IIIB in pigs. ( 30257828 )
2018
42
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. ( 30335002 )
2018
43
Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. ( 30413728 )
2018
44
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy. ( 30442200 )
2018
45
Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials. ( 30467742 )
2018
46
Correction to: Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials. ( 30515718 )
2018
47
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. ( 30524696 )
2018
48
New treatment method for mucopolysaccharidosis type VI by liver transplantation. ( 30548979 )
2018
49
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report. ( 28820625 )
2018
50
Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome). ( 29527552 )
2018

Variations for Mucopolysaccharidosis-Plus Syndrome

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

76
# Symbol AA change Variation ID SNP ID
1 VPS33A p.Arg498Trp VAR_078032 rs767748011

ClinVar genetic disease variations for Mucopolysaccharidosis-Plus Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VPS33A NM_022916.5(VPS33A): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs767748011 GRCh37 Chromosome 12, 122717464: 122717464
2 VPS33A NM_022916.5(VPS33A): c.1492C> T (p.Arg498Trp) single nucleotide variant Pathogenic rs767748011 GRCh38 Chromosome 12, 122232917: 122232917

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:

38
# 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
13.73 APRT ARSB ARSH GALNS GNS GUSB
2
Show member pathways
12.51 ARSB GNS GUSB HYAL1 IDS IDUA
3
Show member pathways
12.31 ARSB GUSB HYAL1 IDS IDUA NAGLU
4 11.79 ARSB GALNS GNS GUSB HGSNAT HYAL1
5
Show member pathways
10.62 ARSB GALNS GNS GUSB HGSNAT HYAL1

GO Terms for Mucopolysaccharidosis-Plus Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.85 APRT ARSB GALNS GNS GUSB HYAL1
2 lysosome GO:0005764 9.7 ARSB GALNS GNS GUSB HYAL1 IDS
3 azurophil granule lumen GO:0035578 9.56 ARSB GALNS GNS GUSB
4 ficolin-1-rich granule lumen GO:1904813 9.5 ARSB GNS GUSB
5 lysosomal lumen GO:0043202 9.28 ARSB GALNS GNS GUSB HYAL1 IDS

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

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

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.65 ARSB ARSH GALNS GNS GUSB HYAL1
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.46 GUSB HYAL1 IDUA NAGLU
3 arylsulfatase activity GO:0004065 9.32 ARSB ARSH
4 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.26 ARSB GALNS
5 sulfuric ester hydrolase activity GO:0008484 9.1 ARSB ARSH GALNS GNS IDS SGSH

Sources for Mucopolysaccharidosis-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....