MPSPS
MCID: MCP040
MIFTS: 67

Mucopolysaccharidosis-Plus Syndrome (MPSPS)

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

Aliases & Classifications for Mucopolysaccharidosis-Plus Syndrome

MalaCards integrated aliases for Mucopolysaccharidosis-Plus Syndrome:

Name: Mucopolysaccharidosis-Plus Syndrome 57 75 37 6
Mucopolysaccharidosis 12 76 53 37 29 55 15
Mucopolysaccharidoses 44 73
Mpsps 57 75
Mucopolysaccharidosis-Like Syndrome with Congenital Heart Defects and Hematopoietic Disorders 59
Mucopolysaccharidosis-Like Plus Disease 59
Mps 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Mucopolysaccharidosis-Plus Syndrome

NIH Rare Diseases : 53 Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides (long chains of sugar molecules that are found throughout the body). As a result, these sugars buildup in cells, blood and connective tissue which can lead to a variety of health problems. Seven distinct forms and numerous subtypes of mucopolysaccharidosis have been identified. Associated signs and symptoms and the severity of the condition vary significantly by form. In general, most affected people appear healthy at birth and experience a period of normal development, followed by a decline in physical and/or mental function. As the condition progresses, it may affect appearance; physical abilities; organ and system functioning; and, in most cases, cognitive development. The underlying genetic cause varies by form. Most cases are inherited in an autosomal recessive manner, although one specific form (Type II) follows an X-linked pattern of inheritance. Treatment is based on the signs and symptoms present in each person. For more specific information about the various forms of mucopolysaccharidosis, please click on the links below:Mucopolysaccharidosis, Type 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, CORVET/HOPS Core Subunit), and among its related pathways/superpathways are Glycosaminoglycan degradation and Lysosome. Affiliated tissues include bone, brain and skin, and related phenotypes are short neck and pectus excavatum

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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 225)
# Related Disease Score Top Affiliating Genes
1 mucopolysaccharidosis, type ii 34.1 ARSH GALNS IDS
2 mucopolysaccharidosis, type iva 34.0 ARSH GALNS
3 mucopolysaccharidosis, type iiia 33.9 ARSH NAGLU SGSH
4 mucopolysaccharidosis iv 33.8 APRT ARSH GALNS
5 mucopolysaccharidosis, type vi 33.8 ARSB ARSH GALNS GUSB
6 mucopolysaccharidosis iii 33.7 ARSH GNS NAGLU SGSH
7 scheie syndrome 33.5 GALNS HEXA IDUA NAGLU
8 mucopolysaccharidosis, type vii 33.4 GALNS GUSB HEXA IDUA SGSH
9 morquio syndrome 32.8 APRT GALNS
10 mucopolysaccharidoses 31.8 ARSH GUSB IDUA NAGLU
11 multiple sulfatase deficiency 31.2 ARSB ARSH GALNS GNS IDS SGSH
12 metachromatic leukodystrophy 31.1 ARSB ARSH HEXA
13 mucolipidoses 30.4 HEXA HYAL1
14 mucolipidosis ii alpha/beta 29.8 ARSH GUSB
15 fucosidosis 29.7 HEXA NAGLU
16 lysosomal storage disease 29.1 ARSB GALNS GUSB HEXA IDS IDUA
17 mucopolysaccharidosis, type ivb 12.5
18 mucopolysaccharidosis, type iiib 12.5
19 mucopolysaccharidosis, type iiic 12.5
20 mucopolysaccharidosis, type iiid 12.5
21 mucopolysaccharidosis, type ix 12.5
22 hurler syndrome 12.4
23 hurler-scheie syndrome 12.4
24 mucopolysaccharidosis type 2, severe form 12.3
25 mucopolysaccharidosis type 2, attenuated form 12.3
26 mucopolysaccharidoses, unclassified types 12.1
27 mucopolysaccharidosis type 6, slowly progressing 12.0
28 mucopolysaccharidosis type 6, rapidly progressing 12.0
29 osteochondrodysplasia 11.4
30 myofascial pain syndrome 11.3
31 mccallum macadam johnston syndrome 11.3
32 epidermolysis bullosa simplex with mottled pigmentation 11.3
33 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.0
34 spondyloepiphyseal dysplasia with congenital joint dislocations 11.0
35 macular dystrophy, corneal 11.0
36 morquio syndrome c 11.0
37 winchester syndrome 11.0
38 natowicz syndrome 11.0
39 arachnoid cysts 11.0
40 mucolipidosis iii alpha/beta 10.9
41 n acetyltransferase deficiency 10.9
42 minimal pigment oculocutaneous albinism type 1 10.9
43 hematopoietic stem cell transplantation 10.4
44 carpal tunnel syndrome 10.2
45 mononeuropathy of the median nerve, mild 10.2
46 hydrops fetalis, nonimmune, and/or atrial septal defect 10.2
47 fetal edema 10.2
48 hydrops fetalis 10.2
49 mycoplasma pneumoniae pneumonia 10.2
50 pneumonia 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Head And Neck Mouth:
macroglossia
full lips

Abdomen Spleen:
splenomegaly

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

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

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

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

Skeletal 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

Human phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

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

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

26 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 ARSB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.68 ARSB
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.68 IDS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.68 ARSB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.68 ARSB IDS
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.68 GALNS
7 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.68 GALNS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.68 GALNS
9 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.68 IDS
10 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.68 GALNS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.68 GALNS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.68 IDS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 ARSB
14 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.68 ARSB IDS
15 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.68 IDS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 GALNS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.68 GALNS
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.68 ARSB GALNS IDS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 IDS

MGI Mouse Phenotypes related to Mucopolysaccharidosis-Plus Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.19 APRT ARSB GNS GUSB HEXA IDS
2 cellular MP:0005384 10.13 ARSB GALNS GNS GUSB IDS IDUA
3 hematopoietic system MP:0005397 10.11 APRT ARSB GNS GUSB IDS IDUA
4 growth/size/body region MP:0005378 10.1 APRT ARSB GUSB HEXA IDS IDUA
5 homeostasis/metabolism MP:0005376 10.09 APRT ARSB GALNS GUSB HEXA IDS
6 craniofacial MP:0005382 10.05 ARSB GUSB HEXA IDS IDUA NAGLU
7 renal/urinary system MP:0005367 9.96 APRT ARSB GALNS GUSB HEXA IDS
8 integument MP:0010771 9.95 APRT GUSB IDS IDUA NAGLU SGSH
9 hearing/vestibular/ear MP:0005377 9.88 ARSB GUSB HEXA IDUA NAGLU
10 liver/biliary system MP:0005370 9.8 HEXA HYAL1 IDS IDUA NAGLU SGSH
11 limbs/digits/tail MP:0005371 9.77 ARSB GUSB HEXA IDS IDUA
12 reproductive system MP:0005389 9.63 APRT ARSB GUSB HEXA IDS IDUA
13 skeleton MP:0005390 9.61 ARSB GALNS GUSB HEXA HYAL1 IDS
14 vision/eye MP:0005391 9.23 ARSB GALNS HEXA IDS IDUA NAGLU

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 29

Anatomical Context for Mucopolysaccharidosis-Plus Syndrome

MalaCards organs/tissues related to Mucopolysaccharidosis-Plus Syndrome:

41
Bone, Brain, Skin, Heart, Spinal Cord, Liver, Bone Marrow

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 303)
# Title Authors Year
1
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. ( 30083803 )
2018
2
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. ( 29671225 )
2018
3
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. ( 29654546 )
2018
4
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. ( 30006231 )
2018
5
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. ( 30070758 )
2018
6
Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media. ( 30049674 )
2018
7
Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy. ( 30047587 )
2018
8
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207 )
2018
9
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. ( 28911234 )
2018
10
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. ( 29251941 )
2018
11
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA. ( 29408731 )
2018
12
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542 )
2018
13
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient. ( 29800929 )
2018
14
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report. ( 30091163 )
2018
15
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. ( 30118150 )
2018
16
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review. ( 30136255 )
2018
17
A model of mucopolysaccharidosis type IIIB in pigs. ( 30257828 )
2018
18
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
19
Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. ( 30413728 )
2018
20
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy. ( 30442200 )
2018
21
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
22
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
23
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. ( 30524696 )
2018
24
New treatment method for mucopolysaccharidosis type VI by liver transplantation. ( 30548979 )
2018
25
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report. ( 28820625 )
2018
26
Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome). ( 29527552 )
2018
27
Intrathecal baclofen in mucopolysaccharidosis type II (Hunter syndrome): case report. ( 29860540 )
2018
28
Diffusion tensor imaging findings suggestive of white matter alterations in a canine model of mucopolysaccharidosis type I. ( 28695759 )
2018
29
A Humoral Immune Response Alters the Distribution of Enzyme Replacement Therapy in Murine Mucopolysaccharidosis Type I. ( 29159202 )
2018
30
Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I. ( 29239447 )
2018
31
The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler). ( 29240299 )
2018
32
Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. ( 29273385 )
2018
33
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. ( 29282708 )
2018
34
Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases. ( 29336994 )
2018
35
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I. ( 29442294 )
2018
36
Stand-alone craniocervical decompression is feasible in children with mucopolysaccharidosis type I, IVA, and VI. ( 29649608 )
2018
37
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment. ( 29797470 )
2018
38
Salivary α-Iduronidase Activity as a Potential New Biomarker for the Diagnosis and Monitoring the Effect of Therapy in Mucopolysaccharidosis Type I. ( 29906569 )
2018
39
International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome. ( 30242902 )
2018
40
Nasal Administration of Cationic Nanoemulsions as Nucleic Acids Delivery Systems Aiming at Mucopolysaccharidosis Type I Gene Therapy. ( 30259180 )
2018
41
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights. ( 30419879 )
2018
42
EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB. ( 29348482 )
2018
43
Mitral Regurgitation and Heart Failure as the First Presentation in a Patient with Features of Two Connective Tissue Disorders: A Rare Combination of Mucopolysaccharidosis and Osteogenesis Imperfecta? ( 29225276 )
2018
44
Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II. ( 29289480 )
2018
45
Coping Strategies, Stress, and Support Needs in Caregivers of Children with Mucopolysaccharidosis. ( 29299872 )
2018
46
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications. ( 29310675 )
2018
47
Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice. ( 29366749 )
2018
48
Evaluation of spinal involvement in children with mucopolysaccharidosis VI: the role of MRI. ( 29376740 )
2018
49
Neurophysiology of hearing in patients with mucopolysaccharidosis type IV. ( 29472067 )
2018
50
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. ( 29478819 )
2018

Variations for Mucopolysaccharidosis-Plus Syndrome

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

75
# 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:

37
# Name Kegg Source Accession
1 Glycosaminoglycan degradation hsa00531
2 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 APRT ARSB ARSH GALNS GNS GUSB
2
Show member pathways
12.66 ARSB GNS GUSB HEXA HYAL1 IDS
3
Show member pathways
12.27 ARSB GUSB HEXA HYAL1 IDS IDUA
4
Show member pathways
11.95 ARSB ARSH HEXA
5 11.41 ARSB GALNS GNS GUSB HEXA HYAL1
6
Show member pathways
10.96 ARSB GALNS GNS GUSB HEXA 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 HEXA
2 lysosome GO:0005764 9.7 ARSB GALNS GNS GUSB HEXA HYAL1
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 9.32 ARSB GALNS GNS GUSB HEXA HYAL1

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 9.77 APRT ARSB GALNS GNS GUSB
2 carbohydrate metabolic process GO:0005975 9.71 GUSB HEXA HYAL1 IDUA
3 metabolic process GO:0008152 9.55 GUSB HEXA HYAL1 IDUA NAGLU
4 hyaluronan catabolic process GO:0030214 9.5 GUSB HEXA HYAL1
5 lysosome organization GO:0007040 9.43 ARSB NAGLU
6 keratan sulfate catabolic process GO:0042340 9.43 GALNS GNS HEXA
7 chondroitin sulfate catabolic process GO:0030207 9.35 ARSB HEXA HYAL1 IDS IDUA
8 glycosaminoglycan catabolic process GO:0006027 9.1 GNS GUSB IDS IDUA NAGLU SGSH

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 9.7 ARSB ARSH GALNS GNS GUSB HEXA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.55 GUSB HEXA 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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