|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA).
|
28585336 |
2017 |
|
Mucopolysaccharidosis I
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme.
|
28619065 |
2017 |
|
Valvular disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Valvular disease prevalence is similar to MPS I and II, but appears less severe.
|
29735373 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mucopolysaccharidosis type 1 (MPS-1), also known as Hurler's disease, is a congenital metabolic disorder caused by a mutation in the alpha-L-iduronidase (IDUA) gene, which results in the loss of lysosomal enzyme function for the degradation of glycosaminoglycans.
|
31065277 |
2019 |
|
Squamous cell carcinoma of the head and neck
|
0.010 |
Biomarker
|
disease |
BEFREE |
MPS-1 has been found to be increased in the sera of a number of different cancers, including head and neck squamous cell carcinoma (HNSCC).
|
19642098 |
2010 |
|
Mucopolysaccharidosis I
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate.
|
19751987 |
2010 |
|
alpha-L-Iduronidase Deficiency
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate.
|
19751987 |
2010 |
|
nervous system disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy.
|
28619065 |
2017 |
|
Cardiomyopathies
|
0.010 |
Biomarker
|
group |
BEFREE |
MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy.
|
28619065 |
2017 |
|
Mucopolysaccharidosis Type IIIA
|
0.080 |
Biomarker
|
disease |
BEFREE |
MPS I and II patients often develop cardiac involvement leading to early mortality, however there are limited data in MPS III.
|
29735373 |
2018 |
|
Malignant neoplasm of colon and/or rectum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mps1 is associated with the BRAF<sup>V600E</sup> mutation and predicts poor outcome in patients with colorectal cancer.
|
30854056 |
2019 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
MPS-1 was correlated with advanced tumor stage, suggesting its association with CRC progression.
|
31506433 |
2019 |
|
Colorectal Carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
MPS-1 expression was positively associated with circulating leptin levels in CRC patients, especially in obese cases.
|
31506433 |
2019 |
|
Condyloma
|
0.010 |
Biomarker
|
disease |
BEFREE |
MPS-1 immunoreactivity was detected in the cytoplasm and/or the perinuclear regions of condylomata cells, with marked staining in areas of active proliferation.
|
8074479 |
1994 |
|
Hurler-Scheie Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes.
|
30575621 |
2019 |
|
Clouding of corneal stroma
|
0.010 |
Biomarker
|
disease |
BEFREE |
A 13-year-old boy with Hurler-Scheie syndrome (MPS I-HS) presented with corneal clouding in both eyes.
|
30575621 |
2019 |
|
Carcinogenesis
|
0.060 |
Biomarker
|
phenotype |
BEFREE |
A previous study identified a novel gene, monopolar spindle protein kinase 1 (Mps1), a downstream target of BRAF<sup>V600E</sup> only, rather than of wild-type BRAF as well, which contributes to tumorigenesis in melanoma.
|
30854056 |
2019 |
|
melanoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
A previous study identified a novel gene, monopolar spindle protein kinase 1 (Mps1), a downstream target of BRAF<sup>V600E</sup> only, rather than of wild-type BRAF as well, which contributes to tumorigenesis in melanoma.
|
30854056 |
2019 |
|
Pfaundler-Hurler Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy).
|
28170539 |
2017 |
|
Chronic Lymphocytic Leukemia
|
0.010 |
Biomarker
|
disease |
BEFREE |
Abbreviations: APC/C: Anaphase-Promoting Complex/Cyclosome; BAD: BCL2-Associated agonist of cell Death; BAK1: BCL2 Antagonist Kinase1; BAX: BCL2-Associated X; BCL2: B-cell Chronic Lymphocytic Leukaemia (CLL)/Lymphoma 2; BH: BCL2 Homology Domain; BID: BH3-Interacting domain Death agonist; BIM: BCL2-Interacting Mediator of cell death; BUB: Budding Uninhibited by Benzimidazoles; CDC: Cell Division Cycle; CDH1: Cadherin-1; CDK1: Cyclin-Dependent Kinase 1; CEP55: Centrosomal Protein (55 KDa): CIN: Chromosomal Instability; CTA: Cancer Testis Antigen; EGR1: Early Growth Response protein 1; ERK: Extracellular Signal-Regulated Kinase; ESCRT: Endosomal Sorting Complexes Required for Transport; GIN: Genomic Instability; MAD2: Mitotic Arrest Deficient 2; MCL1: Myeloid Cell Leukemia sequence 1; MPS1: Monopolar Spindle 1 Kinase; MYT1: MYelin Transcription factor 1; PLK1: Polo Like Kinase 1; PUMA: p53-Upregulated Mediator of Apoptosis; SAC: Spindle Assembly Checkpoint; TAA: Tumor-Associated Antigen.
|
30601084 |
2019 |
|
Lysosomal Storage Diseases
|
0.070 |
Biomarker
|
group |
BEFREE |
Activities of acid β-glucocerebrosidase (ABG; Gaucher), acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), and acid α-L-iduronidase (IDUA; MPS-I) in dried blood spots (DBS) from all newborns during a 17-month period were determined by multiplexed tandem mass spectrometry (MS/MS) using the NeoLSD<sup>®</sup> assay system.
|
29143201 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
Biomarker
|
disease |
BEFREE |
Additional studies in cultured neurons from MPS I mice showed that elevated spermine was essential for the abnormal neurite overgrowth exhibited by MPS neurons.
|
28934395 |
2017 |
|
Mucopolysaccharidosis Type IIIA
|
0.080 |
AlteredExpression
|
disease |
BEFREE |
Adenotonsillar samples from MPS I, IVA and VI ERT treated patients and from a single enzyme naïve MPS IIIA individual were compared to non-affected control samples using quantitative immunohistochemistry, qPCR and biochemical analysis.
|
30226843 |
2018 |
|
Mucopolysaccharidoses
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease).
|
19690584 |
2010 |
|
Mucopolysaccharidosis Type IIIA
|
0.080 |
Biomarker
|
disease |
BEFREE |
Although enzyme replacement therapy has become available for some MPS types (MPS I, MPS II and MPS VI), this treatment is not efficient when neurological symptoms occur, especially in MPS III (Sanfilippo disease).
|
19690584 |
2010 |