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 bone marrow, and related phenotypes are brain atrophy and cerebral calcification

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

OMIM : 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 276)
# 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 34.0 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 33.8 APRT ARSH GALNS
8 mucopolysaccharidosis iii 33.0 ARSH GNS HGSNAT NAGLU SGSH
9 morquio syndrome 32.1 APRT GALNS
10 multiple sulfatase deficiency 31.5 ARSB ARSH GALNS GNS IDS SGSH
11 metachromatic leukodystrophy 31.3 ARSB ARSH
12 mucopolysaccharidoses 31.1 ARSH GUSB HGSNAT IDUA NAGLU
13 mucolipidosis ii alpha/beta 29.6 ARSH GUSB IGF2R
14 kluver-bucy syndrome 29.5 HGSNAT NAGLU SGSH
15 lysosomal storage disease 28.7 ARSB GALNS GUSB HGSNAT IDS IDUA
16 mucopolysaccharidosis, type ivb 12.6
17 mucopolysaccharidosis, type iiib 12.6
18 mucopolysaccharidosis, type iiic 12.6
19 mucopolysaccharidosis, type iiid 12.6
20 mucopolysaccharidosis, type ix 12.5
21 hurler syndrome 12.4
22 hurler-scheie syndrome 12.4
23 mucopolysaccharidosis type 2, severe form 12.4
24 mucopolysaccharidosis type 2, attenuated form 12.3
25 mucopolysaccharidoses, unclassified types 12.1
26 mucopolysaccharidosis type 6, slowly progressing 12.0
27 mucopolysaccharidosis type 6, rapidly progressing 12.0
28 myofascial pain syndrome 11.3
29 winchester syndrome 11.3
30 epidermolysis bullosa simplex with mottled pigmentation 11.3
31 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 11.0
32 spondyloepiphyseal dysplasia with congenital joint dislocations 11.0
33 macular dystrophy, corneal 11.0
34 morquio syndrome c 11.0
35 arachnoid cysts 11.0
36 mucolipidosis iii alpha/beta 11.0
37 n acetyltransferase deficiency 11.0
38 minimal pigment oculocutaneous albinism type 1 11.0
39 nance-horan syndrome 10.5
40 mucolipidoses 10.4
41 hematopoietic stem cell transplantation 10.4
42 autoimmune disease 10.3
43 carpal tunnel syndrome 10.2
44 mononeuropathy of the median nerve, mild 10.2
45 allergic rhinitis 10.2
46 rhinitis 10.2
47 holt-oram syndrome 10.2
48 lymphatic malformation 7 10.2
49 fetal edema 10.2
50 hydrops fetalis 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 focal segmental glomerulosclerosis 33 HP:0000097
34 hirsutism 33 HP:0001007
35 flared iliac wings 33 HP:0002869
36 j-shaped sella turcica 33 HP:0002680
37 acetabular dysplasia 33 HP:0008807
38 macrovesicular hepatic steatosis 33 HP:0001403
39 tubular atrophy 33 HP:0000092

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 Pelvis:
flared iliac wings
acetabular dysplasia
dislocation hips

Skin Nails Hair Skin:
thick skin

Skeletal Feet:
foot deformities

Skeletal Hands:
bullet-shaped phalanges
hand contractures
metacarpal pointing

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

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

Abdomen Liver:
hepatomegaly
macrovesicular steatosis

Skin Nails Hair Hair:
coarse hair
hirsutism
low hairlines

Skeletal:
dysostosis multiplex
joint contractures

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

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

Skeletal Skull:
j-shaped sella turcica

Head And Neck Nose:
broad nasal bridge
broad nose

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

Skeletal Spine:
vertebral dysplasia

Clinical features from OMIM:

617303

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, Bone Marrow, Heart, Skin, Liver, Testes

Publications for Mucopolysaccharidosis-Plus Syndrome

Articles related to Mucopolysaccharidosis-Plus Syndrome:

(show top 50) (show all 1873)
# 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
Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy. ( 30047587 )
2019
4
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS. ( 30994022 )
2019
5
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 )
2019
6
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. ( 30653816 )
2019
7
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III). ( 31046785 )
2019
8
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542 )
2019
9
Medically uncontrolled intraocular pressure in mucopolysaccharidosis type VI. ( 29971925 )
2019
10
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics. ( 30669586 )
2019
11
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review. ( 30740728 )
2019
12
Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein. ( 30907009 )
2019
13
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. ( 30982216 )
2019
14
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl. ( 31046699 )
2019
15
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. ( 30658664 )
2019
16
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States. ( 30777108 )
2019
17
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. ( 30849633 )
2019
18
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I. ( 30976609 )
2019
19
Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I. ( 30979856 )
2019
20
Limited Data to Evaluate Real-World Effectiveness of Enzyme Replacement Therapy for Mucopolysaccharidosis type I. ( 31020996 )
2019
21
Variability in the ocular phenotype in mucopolysaccharidosis. ( 30120129 )
2019
22
Spine challenges in mucopolysaccharidosis. ( 30218179 )
2019
23
Recent trends in mucopolysaccharidosis research. ( 30451936 )
2019
24
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families. ( 30458289 )
2019
25
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. ( 30639582 )
2019
26
The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis. ( 30646511 )
2019
27
Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases. ( 30660225 )
2019
28
Cardiac disease in mucopolysaccharidosis type III. ( 30671988 )
2019
29
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. ( 30740618 )
2019
30
Biomarkers in patients with mucopolysaccharidosis type II and IV. ( 30775257 )
2019
31
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
32
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
33
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. ( 30809705 )
2019
34
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. ( 30834539 )
2019
35
Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. ( 30848434 )
2019
36
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. ( 30851722 )
2019
37
Visual loss post Ross procedure in an adolescent with newly diagnosed Mucopolysaccharidosis Type II. ( 30953652 )
2019
38
Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment. ( 30959056 )
2019
39
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. ( 30980944 )
2019
40
Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease. ( 30983812 )
2019
41
Correction to: Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. ( 30993593 )
2019
42
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. ( 31009684 )
2019
43
An improved AAV vector for neurological correction of the mouse model of Mucopolysaccharidosis IIIA. ( 31020862 )
2019
44
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II. ( 31029429 )
2019
45
Pre-clinical Safety and Efficacy of Lentiviral Vector-Mediated Ex Vivo Stem Cell Gene Therapy for the Treatment of Mucopolysaccharidosis IIIA. ( 31044143 )
2019
46
Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model. ( 31065277 )
2019
47
Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm. ( 31082970 )
2019
48
Targeted enzyme delivery systems in lysosomal disorders: an innovative form of therapy for mucopolysaccharidosis. ( 31101939 )
2019
49
Busulfan, Fludarabine, and Cyclophosphamide (BFC) conditioning allowed stable engraftment after haplo-identical allogeneic stem cell transplantation in children with adrenoleukodystrophy and mucopolysaccharidosis. ( 29725109 )
2018
50
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. ( 30083803 )
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
13.75 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
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