alpha-Mannosidosis
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Mannose
alpha-Mannosidase
An enzyme that catalyzes the HYDROLYSIS of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. The enzyme plays a role in the processing of newly formed N-glycans and in degradation of mature GLYCOPROTEINS. There are multiple isoforms of alpha-mannosidase, each having its own specific cellular location and pH optimum. Defects in the lysosomal form of the enzyme results in a buildup of mannoside intermediate metabolites and the disease ALPHA-MANNOSIDOSIS.
Swainsonine
Cat Diseases
Cattle Diseases
Oligosaccharides
Lysosomes
A class of morphologically heterogeneous cytoplasmic particles in animal and plant tissues characterized by their content of hydrolytic enzymes and the structure-linked latency of these enzymes. The intracellular functions of lysosomes depend on their lytic potential. The single unit membrane of the lysosome acts as a barrier between the enzymes enclosed in the lysosome and the external substrate. The activity of the enzymes contained in lysosomes is limited or nil unless the vesicle in which they are enclosed is ruptured. Such rupture is supposed to be under metabolic (hormonal) control. (From Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Cobalt
Chromatography, Thin Layer
Edetic Acid
Cattle
Isoelectric Focusing
alpha 1-Antitrypsin
Receptors, Adrenergic, alpha
One of the two major pharmacological subdivisions of adrenergic receptors that were originally defined by the relative potencies of various adrenergic compounds. The alpha receptors were initially described as excitatory receptors that post-junctionally stimulate SMOOTH MUSCLE contraction. However, further analysis has revealed a more complex picture involving several alpha receptor subtypes and their involvement in feedback regulation.
Hypoxia-Inducible Factor 1, alpha Subunit
alpha7 Nicotinic Acetylcholine Receptor
Integrin alpha3beta1
Cell surface receptor for LAMININ, epiligrin, FIBRONECTINS, entactin, and COLLAGEN. Integrin alpha3beta1 is the major integrin present in EPITHELIAL CELLS, where it plays a role in the assembly of BASEMENT MEMBRANE as well as in cell migration, and may regulate the functions of other integrins. Two alternatively spliced isoforms of the alpha subunit (INTEGRIN ALPHA3), are differentially expressed in different cell types.
Integrin alpha4
Integrin alpha6
An integrin alpha subunit that primarily associates with INTEGRIN BETA1 or INTEGRIN BETA4 to form laminin-binding heterodimers. Integrin alpha6 has two alternatively spliced isoforms: integrin alpha6A and integrin alpha6B, which differ in their cytoplasmic domains and are regulated in a tissue-specific and developmental stage-specific manner.
Integrin alpha5beta1
Integrin alpha4beta1
Integrin alpha4beta1 is a FIBRONECTIN and VCAM-1 receptor present on LYMPHOCYTES; MONOCYTES; EOSINOPHILS; NK CELLS and thymocytes. It is involved in both cell-cell and cell- EXTRACELLULAR MATRIX adhesion and plays a role in INFLAMMATION, hematopoietic cell homing and immune function, and has been implicated in skeletal MYOGENESIS; NEURAL CREST migration and proliferation, lymphocyte maturation and morphogenesis of the PLACENTA and HEART.
Interleukin-1alpha
Integrin alpha2beta1
An integrin found on fibroblasts, platelets, endothelial and epithelial cells, and lymphocytes where it functions as a receptor for COLLAGEN and LAMININ. Although originally referred to as the collagen receptor, it is one of several receptors for collagen. Ligand binding to integrin alpha2beta1 triggers a cascade of intracellular signaling, including activation of p38 MAP kinase.
Receptors, Adrenergic, alpha-1
Integrin alpha5
Integrin alpha1beta1
Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.
Receptors, Adrenergic, alpha-2
A subclass of alpha-adrenergic receptors found on both presynaptic and postsynaptic membranes where they signal through Gi-Go G-PROTEINS. While postsynaptic alpha-2 receptors play a traditional role in mediating the effects of ADRENERGIC AGONISTS, the subset of alpha-2 receptors found on presynaptic membranes signal the feedback inhibition of NEUROTRANSMITTER release.
Integrin alpha6beta1
A cell surface receptor mediating cell adhesion to the EXTRACELLULAR MATRIX and to other cells via binding to LAMININ. It is involved in cell migration, embryonic development, leukocyte activation and tumor cell invasiveness. Integrin alpha6beta1 is the major laminin receptor on PLATELETS; LEUKOCYTES; and many EPITHELIAL CELLS, and ligand binding may activate a number of signal transduction pathways. Alternative splicing of the cytoplasmic domain of the alpha6 subunit (INTEGRIN ALPHA6) results in the formation of A and B isoforms of the heterodimer, which are expressed in a tissue-specific manner.
Base Sequence
Integrin alpha6beta4
This intrgrin is a key component of HEMIDESMOSOMES and is required for their formation and maintenance in epithelial cells. Integrin alpha6beta4 is also found on thymocytes, fibroblasts, and Schwann cells, where it functions as a laminin receptor (RECEPTORS, LAMININ) and is involved in wound healing, cell migration, and tumor invasiveness.
Integrin alpha Chains
The alpha subunits of integrin heterodimers (INTEGRINS), which mediate ligand specificity. There are approximately 18 different alpha chains, exhibiting great sequence diversity; several chains are also spliced into alternative isoforms. They possess a long extracellular portion (1200 amino acids) containing a MIDAS (metal ion-dependent adhesion site) motif, and seven 60-amino acid tandem repeats, the last 4 of which form EF HAND MOTIFS. The intracellular portion is short with the exception of INTEGRIN ALPHA4.
Integrins
A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.
Integrin alpha1
Alpha Rhythm
Integrin alpha3
An integrin alpha subunit that occurs as alternatively spliced isoforms. The isoforms are differentially expressed in specific cell types and at specific developmental stages. Integrin alpha3 combines with INTEGRIN BETA1 to form INTEGRIN ALPHA3BETA1 which is a heterodimer found primarily in epithelial cells.
alpha 1-Antitrypsin Deficiency
Protein Binding
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Receptors, Nicotinic
One of the two major classes of cholinergic receptors. Nicotinic receptors were originally distinguished by their preference for NICOTINE over MUSCARINE. They are generally divided into muscle-type and neuronal-type (previously ganglionic) based on pharmacology, and subunit composition of the receptors.
PPAR alpha
Dinoprost
Adrenergic alpha-Antagonists
Hepatocyte Nuclear Factor 1-alpha
Binding Sites
Transfection
alpha 1-Antichymotrypsin
Glycoprotein found in alpha(1)-globulin region in human serum. It inhibits chymotrypsin-like proteinases in vivo and has cytotoxic killer-cell activity in vitro. The protein also has a role as an acute-phase protein and is active in the control of immunologic and inflammatory processes, and as a tumor marker. It is a member of the serpin superfamily.
Transforming Growth Factor alpha
Signal Transduction
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Gene Expression Regulation
Transcription Factors
Adrenergic alpha-1 Receptor Antagonists
alpha Karyopherins
Nucleocytoplasmic transport molecules that bind to the NUCLEAR LOCALIZATION SIGNALS of cytoplasmic molecules destined to be imported into the CELL NUCLEUS. Once attached to their cargo they bind to BETA KARYOPHERINS and are transported through the NUCLEAR PORE COMPLEX. Inside the CELL NUCLEUS alpha karyopherins dissociate from beta karypherins and their cargo. They then form a complex with CELLULAR APOPTOSIS SUSCEPTIBILITY PROTEIN and RAN GTP-BINDING PROTEIN which is exported to the CYTOPLASM.
Macromolecular Substances
Tumor Necrosis Factor-alpha
Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.
Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. (1/56)
Alpha-mannosidosis is a lysosomal storage disease with autosomal recessive inheritance caused by a deficiency of the lysosomal alpha-mannosidase, which is involved in the degradation of asparagine-linked carbohydrate cores of glycoproteins. An alpha-mannosidosis mouse model was generated by targeted disruption of the gene for lysosomal alpha-mannosidase. Homozygous mutant animals exhibit alpha-mannosidase enzyme deficiency and elevated urinary secretion of mannose-containing oligosaccharides. Thin-layer chromatography revealed an accumulation of oligosaccharides in liver, kidney, spleen, testis and brain. The cellular alterations were characterized by multiple membrane-limited cytoplasmic vacuoles as seen for instance in liver, exocrine pancreas, kidney, thyroid gland, smooth muscle cells, osteocytes and in various neurons of the central and peripheral nervous systems. The morphological lesions and their topographical distribution, as well as the biochemical alterations, closely resemble those reported for human alpha-mannosidosis. This mouse model will be a valuable tool for studying the pathogenesis of inherited alpha-mannosidosis and may help to evaluate therapeutic approaches for lysosomal storage diseases. (+info)Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. (2/56)
Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, which stepwise remove terminal monosaccharides. Thus, the deficiency of a single enzyme causes the blockage of the entire pathway and induces a storage of incompletely degraded substances inside the lysosome. Different mutations may be observed in a single disease and in all cases account for the nonexpression of lysosomal glycosidase activity. Different clinical phenotypes generally characterize a specific disorder, which rather must be described as a continuum in severity, suggesting that other biochemical or environmental factors influence the course of the disease. This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. Moreover, several animal disorders of glycoprotein metabolism have been found and constitute valuable models for the understanding of their human counterparts. (+info)Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (3/56)
A neurologic disease characterized by ataxia, hypermetria, hyperesthesia, and muscle tremors of the head and neck was observed for 2 years in a flock of 28 Anglo-Nubian and Saanen goats on a farm with 5 ha of pasture. Six newborns died during the first week of life, and five abortions were recorded. The predominant plant in the pasture was Sida carpinifolia. The disease was reproduced experimentally in two goats by administration of this plant. Three goats with spontaneous disease and the two experimental animals were euthanatized and necropsied. No significant gross lesions were observed. Fragments of several organs, including the central nervous system, were processed for histopathology. Small fragments of the cerebellar cortex, liver, and pancreas of two spontaneously poisoned goats and two experimentally poisoned goats were processed for electron microscopy. Multiple cytoplasm vacuoles in hepatocytes, acinar pancreatic cells, and neurons, especially Purkinje cells, were the most striking microscopic lesions in the five animals. Ultrastructural changes included membrane-bound vacuoles in hepatocytes, Kupffer cells, acinar pancreatic cells, Purkinje cells, and the small neurons of the granular cell layer of the cerebellum. Paraffin-embedded sections of the cerebellum and pancreas were submitted for lectin histochemical analysis. The vacuoles in different cerebellar and acinar pancreatic cells reacted strongly to the following lectins: Concanavalia ensiformis, Triticum vulgaris, and succinylated Triticum vulgaris. The pattern of staining, analyzed in Purkinje cells and acinar pancreatic cells coincides with results reported for both swainsonine toxicosis and inherited mannosidosis. (+info)Recent progress in lysosomal alpha-mannosidase and its deficiency. (4/56)
Lysosomal alpha-mannosidase (EC 3.2.1.24) is a major exoglycosidase in the glycoprotein degradation pathway. A deficiency of this enzyme causes the lysosomal storage disease, alpha-mannosidosis, which has been described in humans, cattle, domestic cats and guinea pigs. Recently, great progress has been made in studying the enzyme and its deficiency. This includes cloning of the gene encoding the enzyme, characterization of mutations related to the disease, establishment of valuable animal models, and encouraging results from bone marrow transplantation experiments. (+info)alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. (5/56)
alpha-Mannosidosis is a lysosomal storage disorder caused by deficient activity of the lysosomal alpha-mannosidase. We report here the sequencing and expression of the lysosomal alpha-mannosidase cDNA from normal and alpha-mannosidosis guinea pigs. The amino acid sequence of the guinea pig enzyme displayed 82-85% identity to the lysosomal alpha-mannosidase in other mammals. The cDNA of the alpha-mannosidosis guinea pig contained a missense mutation, 679C>T, leading to substitution of arginine by tryptophan at amino acid position 227 (R227W). The R227W allele segregated with the alpha-mannosidosis genotype in the guinea pig colony and introduction of R227W into the wild-type sequence eliminated the production of recombinant alpha-mannosidase activity in heterologous expression studies. Furthermore, the guinea pig mutation has been found in human patients. Our results strongly indicate that the 679C>T mutation causes alpha-mannosidosis and suggest that the guinea pig will be an excellent model for investigation of pathogenesis and evaluation of therapeutic strategies for human alpha-mannosidosis. (+info)Alpha-mannosidosis and mutational analysis in a Turkish patient. (6/56)
We present a case of alpha-mannosidosis with its mutational analysis. She was referred to our hospital with the provisional diagnosis of mucolipidosis. She was the first child of second-degree relative parents. She had a coarse face with flat and wide nasal bridge, hepatosplenomegaly, umbilical hernia, lumbar gibbus, motor and mental retardation and deafness. On peripheral blood smear, lymphocytes revealed vacuoles and neutrophils contained some granules resembling Reilly bodies seen in mucopolysaccharidosis (MPS). Based on these findings, the diagnosis of alpha-mannosidosis was suspected. Her urine oligosaccharide chromatography showed an abnormal pattern with a heavy trisaccharide band. Enzyme studies on white cells confirmed a deficiency of alpha-mannosidase activity, which was 2.6 micromol/g/hr. Her DNA analysis showed a S453Y mutation. (+info)Bovine plasma beta-mannosidase activity and its potential use for beta-mannosidosis carrier detection. (7/56)
Plasma beta-mannosidase activities were determined for Salers cattle from 8 herds as an evaluation of this method for detection of beta-mannosidosis heterozygotes. Several biological factors, such as age, gender, herd, and risk of being a beta-mannosidosis carrier, were considered in this study. The mean enzyme activity for obligate heterozygotes (n = 8) was 55 U/ml (range = 43-65 U/ml), which was 59% of the mean enzyme activity for cattle that were low risk for being a carrier. These data indicate that bovine beta-mannosidosis is characterized by a gene dosage effect. The analytical and biological variation of plasma beta-mannosidase activity that was observed necessitates limiting the test to adult fullblood/purebred Salers cattle within a herd. Plasma beta-mannosidase analysis provides important information for intraherd selection of Salers cattle that are heterozygous for beta-mannosidosis. (+info)Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. (8/56)
Human LAMAN (lysosomal a-mannosidase) was synthesized as a 120 kDa precursor in transfected COS cells [African-green-monkey kidney cells], which was partly secreted as a single-chain form and partly sorted to the lysosomes being subsequently cleaved into three peptides of 70, 40 and 15 kDa respectively. Both the secreted and the lysosomal forms contained endo H (endoglucosidase H)-resistant glycans, suggesting a common pathway through the trans-Golgi network. A fraction of LAMAN was retained intracellularly as a single-chain endo H-sensitive form, probably in the ER (endoplasmic reticulum). The inherited lack of LAMAN causes the autosomal recessive storage disease a-mannosidosis. To understand the biochemical consequences of the disease-causing mutations, 11 missense mutations and two in-frame deletions were introduced into human LAMAN cDNA by in vitro mutagenesis and the resulting proteins were expressed in COS cells. Some selected mutants were also expressed in Chinese-hamster ovary cells. T355P (Thr355Pro), P356R, W714R, R750W and L809P LAMANs as well as both deletion mutants were misfolded and arrested in the ER as inactive single-chain forms. Six of the mutants were transported to the lysosomes, either with less than 5% of normal specific activity (H72L, D196E/N and R220H LAMANs) or with more than 30% of normal specific activity (E402K LAMAN). F320L LAMAN resulted in much lower activity in Chinese-hamster ovary cells when compared with COS cells. Modelling into the three-dimensional structure revealed that the mutants with highly reduced specific activities contained substitutions of amino acids involved in the catalysis, either co-ordinating Zn2+ (His72 and Asp196), stabilizing the active-site nucleophile (Arg220) or positioning the active-site residue Asp319 (Phe320). (+info)
Alpha-mannosidosis - Wikipedia
alpha-Mannosidosis Mutation Database - Home
Alpha-Mannosidosis Global Clinical Trials Review, H2, 2016 : ReportsnReports
alpha-Mannosidosis Mutation Database - Mutations
Oligosaccharide Screen, Urine -
Wyoming Medical Center
Genetic Therapy Reverses Nervous System Damage in Animal Model of Inherited Human Disease
Salers cattle - Wikipedia
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Macroglossia
... alpha-mannosidosis, Klippel-Trenaunay-Weber syndrome, cardiofaciocutaneous syndrome, Ras pathway disorders, transient neonatal ... ". "Omim - Mannosidosis, Alpha B, Lysosomal; Mansa - Omim - Ncbi". Cawson, R. A.; Odell, E. W. (2002). Cawson's essentials of ...
List of OMIM disorder codes
LMNA Mannosidosis, alpha-, types I and II; 248500; MAN2B1 Mannosidosis, beta; 248510; MANBA Maple syrup urine disease, type Ia ... RAG1 Alpha-2-plasmin inhibitor deficiency; 262850; PLI Alpha-ketoglutarate dehydrogenase deficiency; 203740; OGDH Alpha- ... NLRP3 Mucolipidosis II alpha/beta; 252500; GNPTAB Mucolipidosis III alpha/beta; 252600; GNPTAB Mucolipidosis III gamma; 252605 ... methylacetoacetic aciduria; 203750; ACAT1 Alpha-thalassemia myelodysplasia syndrome, somatic; 300448; ATRX Alpha-thalassemia ...
Swainsonine
"Alpha-mannosidosis in goats caused by the swainsonine-containing plant Ipomoea verbascoidea". Journal of Veterinary Diagnostic ... Disruption of Golgi alpha-mannosidase II with swainsonine induces hybrid-type glycans. These glycans have a Man5GlcNAc2 core ... It is a potent inhibitor of Golgi alpha-mannosidase II, an immunomodulator, and a potential chemotherapy drug. As a toxin in ... Castanospermine Mannosidosis "NCATS Inxight: Drugs". drugs.ncats.io. Retrieved 2020-01-22. Stegelmeier BL, Molyneux RJ, Elbein ...
Swainsona greyana
The plant contains the alkaloid swainsonine causing alpha-mannosidosis, a risk to grazing livestock. In 2014, thousands of ...
Mannosidase
There are two types: alpha-Mannosidase beta-Mannosidase A deficiency is associated with mannosidosis. A family of mannosidases ...
Velmanase alfa
... is a medication for the treatment of alpha-mannosidosis. Velmanase alfa is a recombinant form of human alpha-mannosidase. ... alpha-Mannosidase at the US National Library of Medicine Medical Subject Headings (MeSH) Medicine portal v t e. ...
Alfa-manozidaza
"Alpha-mannosidosis.". Orphanet J Rare Dis 3: 21. PMC 2515294. PMID 18651971. doi:10.1186/1750-1172-3-21. ... alpha-Mannosidase na US National Library of Medicine Medical Subject Headings (MeSH) ... GeneReviews/NCBI/NIH/UW entry on Alpha-Mannosidosis. *OMIM entries on Alpha-Mannosidosis ...
Persian cat
... alpha-mannosidosis Neoplastic - basal-cell carcinoma, sebaceous gland tumours Excessive tearing Eye condition such as cherry ...
Lysosomal storage disease
Wolman disease Oligosaccharide Alpha-mannosidosis Beta-mannosidosis Aspartylglucosaminuria Fucosidosis Lysosomal transport ... gangliosidoses Alpha-galactosidase Fabry disease (alpha-galactosidase A) Schindler disease (alpha-galactosidase B) Beta- ... Mannosidosis Molecular chaperone therapy Winchester B, Vellodi A, Young E (2000). "The molecular basis of lysosomal storage ...
List of MeSH codes (C18)
... alpha-mannosidosis MeSH C18.452.648.202.607.750 - beta-mannosidosis MeSH C18.452.648.202.670 - mucolipidoses MeSH C18.452. ... alpha-mannosidosis MeSH C18.452.648.595.577.750 - beta-mannosidosis MeSH C18.452.648.595.600 - mucopolysaccharidoses MeSH ...
List of MeSH codes (C16)
... alpha-mannosidosis MeSH C16.320.565.202.607.750 - beta-mannosidosis MeSH C16.320.565.202.670 - mucolipidoses MeSH C16.320. ... alpha-mannosidosis MeSH C16.320.565.580.577.750 - beta-mannosidosis MeSH C16.320.565.580.600 - mucopolysaccharidoses MeSH ... alpha-thalassemia MeSH C16.320.070.875.150 - beta-thalassemia MeSH C16.320.077.090 - anemia, Diamond-Blackfan MeSH C16.320. ... alpha-thalassemia MeSH C16.320.365.826.100.350 - hydrops fetalis MeSH C16.320.365.826.150 - beta-thalassemia MeSH C16.320. ...
AMD (disambiguation)
... a daemon on Unix-like operating systems Alpha-mannosidosis, a lysosomal storage disorder Aircraft Manufacturing and Design ...
List of conditions treated with hematopoietic stem cell transplantation
Fucosidosis Aspartylglucosaminuria Alpha-mannosidosis Other Wolman disease (acid lipase deficiency) Immunodeficiencies T-cell ...
Coarse facial features
Acromegaly Alpha-mannosidosis type II Aspartylglycosaminuria Battaglia Neri syndrome Borjeson Syndrome Chromosome 6q deletion ... alpha B lysosomal) McCune-Albright Syndrome Mental retardation (X-linked - epilepsy - progressive joint contractures - typical ... Immunodeficiency due to defect in MAPBP-interacting protein Infantile sialic acid storage disorder Job syndrome Mannosidosis ( ...
Alpha-Mannosidase
GeneReviews/NCBI/NIH/UW entry on Alpha-Mannosidosis OMIM entries on Alpha-Mannosidosis alpha-Mannosidase at the US National ... alpha-Mannosidase (EC 3.2.1.24, alpha-D-mannosidase, p-nitrophenyl-alpha-mannosidase, alpha-D-mannopyranosidase, 1,2-alpha- ... exo-alpha-mannosidase) is an enzyme involved in the cleavage of the alpha form of mannose. Its systematic name is alpha-D- ... Malm D, Nilssen Ø (2008). "Alpha-mannosidosis". Orphanet J Rare Dis. 3: 21. doi:10.1186/1750-1172-3-21. PMC 2515294. PMID ...
Glycoside hydrolase family 38
... and can cleave all known types of alpha-mannosidic linkages. Defects in the gene cause lysosomal alpha-mannosidosis (AM), a ... The enzyme catalyzes the hydrolysis of terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides, ... A domain, which is found in the central region adopts a structure consisting of three alpha helices, in an immunoglobulin/ ... The domain is predominantly found in the enzyme alpha-mannosidase. Henrissat B, Callebaut I, Fabrega S, Lehn P, Mornon JP, ...
Mannosidosis
... is a deficiency in mannosidase, an enzyme. There are two types: Alpha-mannosidosis Beta-mannosidosis Swainsonine ... Mannosidosis at the US National Library of Medicine Medical Subject Headings (MeSH) v t e. ...
Beta-mannosidosis
Beta-mannosidase Alpha-mannosidosis "Mannosidosis, beta A, lysosomal , Genetic and Rare Diseases Information Center (GARD) - an ... via lectin histochemistry to distinguish between α-mannosidosis and beta-mannosidosis. In terms of beta-mannosidosis treatment ... Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a ... "beta-mannosidosis". Genetics Home Reference. Retrieved 2017-07-13. Enns, Gregory M.; Steiner, Robert D.; Cowan, Tina M. (2009 ...
Alpha-mannosidosis
... entry on Alpha-Mannosidosis OMIM entries on Alpha-Mannosidosis Alpha-mannosidosis type 1 at NIH's Office of Rare Diseases Alpha ... In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed. Alpha-mannosidosis is a lifelong ... "Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis ... rarediseases.org/rare-diseases/alpha-mannosidosis/ Guide to understanding mannosidosis. Society for Mucopolysaccharide Diseases ...
Locoweed
... develop a lysosomal storage disease similar to genetic mannosidosis. Swainsonine inhibits a lysosomal enzyme, alpha-mannosidase ... Stegelmeier BL, Ralphs MH, Gardner DR, Molyneux RJ, James LF (October 1994). "Serum alpha-mannosidase activity and the ... As the estimated intake of swainsonine increased, blood serum alpha-mannosidase activity and albumin decreased, and alkaline ... and analyzing serum for alpha-mannosidase activity and swainsonine. In mule deer, clinical signs of locoism are similar to ...
List of diseases (A)
Alpha-ketoglutarate dehydrogenase deficiency Alpha-L-iduronidase deficiency Alpha-mannosidosis Alpha-sarcoglycanopathy Alpha- ... thalassemia Alpha thalassemia abnormal morphogenesis Alpha-thalassemia mental retardation syndrome Alport syndrome Alport ... totalis Alopecia universalis Alopecia universalis onychodystrophy vitiligo Alpers disease Alpha 1-antitrypsin deficiency Alpha- ...
Glycoprotein
mannosidosis *Alpha-mannosidosis. *Beta-mannosidosis. *Sialidosis. *Schindler disease. Other. *solute carrier family (Salla ...
Schindler disease
This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), ... International Society for Mannosidosis & Related Diseases, ISMRD). Retrieved 2008-11-13. "Schindler Disease". National ... A deficiency of the alpha-NAGA enzyme leads to an accumulation of glycosphingolipids throughout the body. This accumulation of ... Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency is a rare disease found in ...
List of diseases (M)
... genetic types Mannosidosis Manouvrier syndrome Mansonelliasis Mantle cell lymphoma Marashi-Gorlin syndrome Marburg fever ... Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase deficiency Male pseudohermaphroditism due to 5-alpha- ...
Alpha-mannosidosis - Wikipedia
a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab Malm D, Nilssen O (2008). "Alpha-mannosidosis". Orphanet J Rare Dis. ... a b c d e f g h Borgwardt L, Lund AM, Dali CI (2014). Alpha-mannosidosis - a review of genetic, clinical findings and options ... rarediseases.org/rare-diseases/alpha-mannosidosis/ *^ Guide to understanding mannosidosis. Society for Mucopolysaccharide ... "Alpha-mannosidosis" - news · newspapers · books · scholar · JSTOR (July 2008) (Learn how and when to remove this template ...
Alpha-mannosidosis: MedlinePlus Genetics
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Explore symptoms, ... medlineplus.gov/genetics/condition/alpha-mannosidosis/ Alpha-mannosidosis. ... Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase ... Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Biochem J. 2004 Jul 15;381 ...
Alpha Mannosidosis Market Professional Survey Report 2017... - industry project
BMT Emerges as Leading Therapy for Treating Alpha Mannosidosis. Statistics show that alpha mannosidosis affects one in every 10 ... Alpha mannosidosis is an inherited medical condition tissues and organs of the human body to function in abnormal ways. The ... North America alpha mannosidosis market is also expected to witness a remarkable growth rate in the coming years. The orphan ... Alpha Mannosidosis Market Professional Survey Report 2017 Comprehensive Analysis and Market studies Research Report 2024. Press ...
Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis - Full Text View -...
Confirmed diagnosis of alpha-mannosidosis based on alpha mannosidase activity ,10% of normal in leukocytes or fibroblasts or ... Genetics Home Reference related topics: Alpha-mannosidosis Genetic and Rare Diseases Information Center resources: Alpha- ... Interventional Study to Assess Efficacy and Safety of Velmanase Alfa in Patients With Alpha Mannosidosis (SHAMAN). The safety ... alpha-Mannosidosis. Carbohydrate Metabolism, Inborn Errors. Metabolism, Inborn Errors. Genetic Diseases, Inborn. Lysosomal ...
Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected...
Alpha-mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected ... a-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage disorder resulting from deficient activity of lysosomal ... Leu replacement at a position which is conserved among class 2 alpha-mannosidases from several species. ... alpha-mannosidase (LAMAN) (EC 3.2.1.24). The disease is characterized by massive intracellular accumulation of mannose-rich ...
Alpha-Mannosidosis Global Clinical Trials Review, H2, 2016 : ReportsnReports
Check for Discount on Alpha-Mannosidosis Global Clinical Trials Review, H2, 2016 report by GlobalData. GlobalDatas clinical ... Alpha-Mannosidosis Therapeutics, Global, Clinical Trials and Average Enrollment by Top Countries, 2016* 6. Alpha-Mannosidosis ... Alpha-Mannosidosis Therapeutics Clinical Trials, North America, Top Countries, 2016* 9. Proportion of Alpha-Mannosidosis to ... Alpha-Mannosidosis Therapeutics, Global, Clinical Trials and Average Enrollment by Top Countries, 2016* 6. Alpha-Mannosidosis ...
Alpha-mannosidosis - CheckOrphan
The diagnosis of alpha-mannosidosis relies on demonstration of deficient acid alpha-mannosidase enzyme activity in peripheral ... Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase ... Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected ... Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 people worldwide. This condition is inherited in an ...
New enzyme replacement therapy to treat rare genetic disorder alpha-mannosidosis in children and adults - Healthcanal.com :...
... adolescents and children with mild to moderate forms of alpha-mannosidosis.. Alpha-mannosidosis is a rare inherited enzyme ... As alpha-mannosidosis is a very rare disease, the CHMPagreed that it is not possible to provide comprehensive data on the ... Because alpha-mannosidosis is a very rare disease, Lamzede was granted an orphan designation. As always at time of approval, ... The symptoms of alpha-mannosidosis range from mild to moderate and severe. Individuals with early onset severe and rapid ...
Global Alpha Mannosidosis Market: Exclusivity Norms for Orphan Drugs in Europe and North America Ensure Sustainable Profits,...
... and a patient pool with high disposable incomes will continue to keep North America at the forefront of the alpha mannosidosis ... Global Alpha Mannosidosis Market: Exclusivity Norms for Orphan Drugs in Europe and North America Ensure Sustainable Profits, ... Global Alpha Mannosidosis Market: Exclusivity Norms for Orphan Drugs in Europe and North America Ensure Sustainable Profits, ... Lamazym, an enzyme replacement therapy for treatment of alpha mannosidosis, is designated as an orphan drug in the U.S. and the ...
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation - Semantic Scholar
METHODS To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on the predicted ... and biochemical data were done to investigate the potential relationship between genotype and phenotype in alpha-mannosidosis. ... leading to loss of lysosomal alpha-mannosidase activity. Symptoms include intellectual disabilities, hearing impairment, motor ... BACKGROUND Alpha-mannosidosis is caused by mutations in MAN2B1, ... alpha-Mannosidosis: functional cloning of the lysosomal alpha- ...
Biomarker for Alpha-mannosidosis disease | Centogene
The goal of this study is to identify and validate a new biochemical marker for alpha-mannosidosis from the plasma of affected ... Mutations in the MAN2B1 gene cause alpha-mannosidosis. This gene provides instructions for making the enzyme alpha-mannosidase ... Alpha-mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to ... Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected ...
Alpha-Mannosidosis
... is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly ... Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. ... Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha- ... Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive ...
alpha-Mannosidosis Mutation Database - Mutations
Alpha-mannosidosis : Alpha-mannosidase Enzyme Analysis
Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-mannosidase enzyme ... Demonstration of deficient alpha-mannosidase enzyme activity is considered the gold standard to confirm a diagnosis of alpha- ... This biochemical test is a quantitative measurement of alpha-mannosidase enzyme activity and can be used as a 1st tier test for ... patients with a clinical suspicion of alpha-mannosidosis. ... Alpha-mannosidosis : Alpha-mannosidase Enzyme Analysis. PRINT ...
Alpha-Mannosidosis, symptoms and Alpha-Mannosidosis treatments
What is Alpha-Mannosidosis? Compare Alpha-Mannosidosis symptoms Alpha-Mannosidosis treatments and . Share online in the health ... Learn about Alpha-Mannosidosis and other health conditions at HealtheTreatment. ... About Alpha-Mannosidosis. Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D- ... Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly ...
Search results | NICE
Search Results
Alpha-Mannosidosis
It is caused by mutations of the MAN2B1 gene, which lead to alpha-mannosidase deficiency. AM is associated with facial ... which may also be referred to as lysosomal acid hydrolase alpha-mannosidase or LAHAM. ... Alpha-mannosidosis (AM) is a lysosomal storage disease, ... Home Alpha-Mannosidosis Alpha-Mannosidosis Alpha-mannosidosis ... Alpha-Mannosidosis. Deficiency of Alpha-Mannosidase. Alpha-mannosidosis (AM) is a lysosomal storage disease, which may also be ...
GGP Bovine 100K | Genomics | NEOGEN
Igenity Beef | Genomics | NEOGEN
Alpha-mannosidosis | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Alpha-mannosidosis ... Alpha-mannosidosis Title Other Names:. Lysosomal alpha-D-mannosidase deficiency; Alpha mannosidase B deficiency; Mannosidosis, ... Alpha mannosidosis is caused by a mutations. in the MAN2B1 gene. , which codifies a type of enzyme. (lysosomal alpha- ... 2014; http://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis. *Malm D & Nilssen O. Alpha-Mannosidosis. GeneReview. 2012; http ...
Annual MEDLINE/PubMed Year-End Processing (YEP): Background Information
beta-Mannosidosis
- beta-Mannosidase Deficiency
Summary Report | CureHunter
beta-Mannosidosis: An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results ... 10/08/1999 - "Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N- ... respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. ". ... alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler ...
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT - Full Text View - ClinicalTrials.gov
MAN2B1 mannosidase alpha class 2B member 1 [Homo sapiens (human)] - Gene - NCBI
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation. Borgwardt L, et al. ... lysosomal alpha-mannosidase. Names. lysosomal acid alpha-mannosidase. mannosidase alpha-B. mannosidase, alpha B, lysosomal. NP_ ... Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. Lehalle ... PLN02701; alpha-mannosidase. cd10810. Location:63 → 341. GH38N_AMII_LAM_like; N-terminal catalytic domain of lysosomal alpha- ...
Skeletal Dysplasia Clinical Presentation: History, Physical, Causes
Alpha-Mannosidase - Wikipedia
GeneReviews/NCBI/NIH/UW entry on Alpha-Mannosidosis OMIM entries on Alpha-Mannosidosis alpha-Mannosidase at the US National ... alpha-Mannosidase (EC 3.2.1.24, alpha-D-mannosidase, p-nitrophenyl-alpha-mannosidase, alpha-D-mannopyranosidase, 1,2-alpha- ... exo-alpha-mannosidase) is an enzyme involved in the cleavage of the alpha form of mannose. Its systematic name is alpha-D- ... Malm D, Nilssen Ø (2008). "Alpha-mannosidosis". Orphanet J Rare Dis. 3: 21. doi:10.1186/1750-1172-3-21. PMC 2515294. PMID ...
A-Z List of Rare Diseases in Humans | Disabled World
Beta-mannosidosisOrphanet J RMAN2B1MutationsVelmanase alfaHuman alpha-mannosidaseGlobal alpha mannosidosis marketDeficientClinicalAntitrypsin DeficiencyPhenotypesDiagnosisNorth AmericaSymptoms2017FucosidosisEnzyme alpha-D-mannosidaseDiseasesDisordersGenePatientsInbornGlycoproteinsPompeSkeletal abnormalitiesSyndromeDiseaseDisorderMildOligosaccharidesSwainsonineTreatmentBiochemical
Beta-mannosidosis4
- deficient in beta-mannosidosis) and nonlysosomal beta-mannosidase (neutral) activity. (curehunter.com)
- Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. (nih.gov)
- Beta-Mannosidosis occurs in Nubian goats and Salers calves. (merckvetmanual.com)
- Its mission is to advocate for people whose lives are affected by diseases that include alpha and beta mannosidosis, aspartylglucosaminuria, fucosidosis, galactosialidosis, Schindler disease, and mucolipidosis I and II. (rarediseases.org)
Orphanet J R1
- Alpha-mannosidosis Orphanet J Rare Dis. (hospitalhealthcare.com)
MAN2B113
- [2] In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. (wikipedia.org)
- Mutations in the MAN2B1 gene cause alpha-mannosidosis. (medlineplus.gov)
- Mutations in the MAN2B1 gene interfere with the ability of the alpha-mannosidase enzyme to perform its role in breaking down mannose-containing oligosaccharides. (medlineplus.gov)
- MAN2B1 is the only gene known to be associated with alpha-mannosidosis. (checkorphan.org)
- BACKGROUND Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase activity. (semanticscholar.org)
- amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis. (semanticscholar.org)
- Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. (healthmedicinet.com)
- It is caused by mutations of the MAN2B1 gene, which lead to alpha-mannosidase deficiency. (symptoma.com)
- Alpha mannosidosis is caused by a mutations in the MAN2B1 gene , which codifies a type of enzyme (lysosomal alpha-mannosidase), that degrade glycoproteins ( proteins attached to sugar residues) into smaller fragments. (cdc.gov)
- Orthologous to human MAN2B1 (mannosidase alpha class 2B member 1). (jax.org)
- α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease arising from a deficiency in lysosomal α-mannosidase caused by mutations in MAN2B1 located on chromosome 19 with an estimated prevalence of 0.5-1:500.000. (biomedcentral.com)
- MAN2B1 (Mannosidase Alpha Class 2B Member 1) is a Protein Coding gene. (genecards.org)
- Mutations in the gene ( MAN2B1 ) encoding lysosomal α-D-mannosidase cause improper coding, resulting in dysfunctional or non-functional protein, causing the disease α-mannosidosis. (biomedcentral.com)
Mutations4
- Spectrum of mutations in alpha-mannosidosis. (semanticscholar.org)
- A comprehensive homology modeling study of all the wild-type and inherited mutations of lysosomal α-mannosidase in four different species, human, cow, cat and guinea pig, reveals a significant correlation between the severity of the genotype and the phenotype in α-mannosidosis. (biomedcentral.com)
- Based on the co-location of mutations from different organisms and their proximity to the enzyme active site, we have extrapolated observed mutations from one species to homologous positions in other organisms, as a predictive approach for detecting likely α-mannosidosis. (biomedcentral.com)
- Therefore, we have attempted a structural bioinformatics approach to understand the role of the different mutations causing α-mannosidosis with differing phenotypes. (biomedcentral.com)
Velmanase alfa3
- The company has developed recombinant enzyme indicated for patients with alpha mannosidosis, which is known as Lamazym (velmanase alfa) in the market. (mynewsdesk.com)
- The European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use ( CHMP ) has recommended granting a marketing authorisation in the European Union (EU) for Lamzede (velmanase alfa), a long-term enzyme replacement therapy in adults, adolescents and children with mild to moderate forms of alpha-mannosidosis. (healthcanal.com)
- The active substance of Lamzede is velmanase alfa, which is a recombinant form of human alpha-mannosidase (ATC code: A16AB15). (hospitalhealthcare.com)
Human alpha-mannosidase2
- Lamzede is a recombinant human alpha mannosidase developed as an intravenous enzyme replacement therapy (ERT) for the treatment of alpha-mannosidosis. (healthcanal.com)
- Recombinant human alpha-mannosidase for treating alpha-mannosidosis [ ID800 ]. (sheffield.ac.uk)
Global alpha mannosidosis market3
- The leading players operating in the global alpha mannosidosis market is Zymenex. (mynewsdesk.com)
- Owing to the limited patient pool of alpha mannosidosis across the globe and the vast costs involved in the development of orphan drugs, the competitive landscape of the global alpha mannosidosis market features only two notable players, namely Zymenex A/S and Cytomedix, Inc, observes Transparency Market Research in a recent report. (transparencymarketresearch.com)
- The cost of manufacturing orphan drugs continues to remain the most important factor restricting the development of the global alpha mannosidosis market. (transparencymarketresearch.com)
Deficient7
- a-Mannosidosis (MIM 248500) is an autosomal recessive lysosomal storage disorder resulting from deficient activity of lysosomal alpha-mannosidase (LAMAN) (EC 3.2.1.24). (uniprot.org)
- The diagnosis of alpha-mannosidosis relies on demonstration of deficient acid alpha-mannosidase enzyme activity in peripheral blood leukocytes or other nucleated cells such as fibroblasts. (checkorphan.org)
- Demonstration of deficient alpha-mannosidase enzyme activity is considered the gold standard to confirm a diagnosis of alpha-mannosidosis. (isinproduction.com)
- Pitz, Susanne 2018-06-01 00:00:00 Background: α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. (deepdyve.com)
- α-mannosidosis is a rare, autosomal-recessive, lysosomal storage disease caused by a deficient activity of α-mannosidase. (biomedcentral.com)
- Affected (homozygous) calves have an absolute deficiency of alpha-mannosidase, and heterozygotes are partially deficient. (merckvetmanual.com)
- Longterm Homecare Augmentation Program in Alpha-1-Antitrypsin Deficient Patients. (bioportfolio.com)
Clinical9
- Generally, phenotypes of alpha-mannosidosis patients are not clearly distinguishable, which makes a prediction of the clinical course for an individual patient challenging. (wikipedia.org)
- Adult alpha-mannosidosis: clinical progression in the absence of demyelination. (medlineplus.gov)
- A diagnosis of alpha-mannosidosis is suspected based upon identification of characteristic findings of a multi-symptomatic presentation, a thorough clinical evaluation, a detailed patient history, and results from the diagnostic tests described below: A. Oligosaccharides in urine A preliminary investigation may be performed to measure mannose-rich oligosaccharide concentrations in urine. (wikipedia.org)
- GlobalData's clinical trial report, "Alpha-Mannosidosis Global Clinical Trials Review, H2, 2016" provides an overview of Alpha-Mannosidosis clinical trials scenario. (reportsnreports.com)
- This report provides top line data relating to the clinical trials on Alpha-Mannosidosis. (reportsnreports.com)
- This biochemical test is a quantitative measurement of alpha-mannosidase enzyme activity and can be used as a 1st tier test for patients with a clinical suspicion of alpha-mannosidosis. (isinproduction.com)
- Since these early clinical descriptions of Table 1 Demographics and ocular findings of all patients mannosidosis, many research groups have contributed to n of patients 32 the characterization of the presenting phenotype, enzyme Sex, male/female 19 (59.4%)/13 (40.6%) and corresponding genes in several species including ocular Age, years pathologies in 20 α-mannosidosis patients [5-8]. (deepdyve.com)
- Two α-mannosidosis phenotypes have been described based on clinical severity: a severe infantile form (type I) characterized by early death due to rapid progressive central nervous system involvement and a milder phenotype with a slower disease progression and survival into adulthood (type II) [ 1 , 2 ]. (biomedcentral.com)
- Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. (mendelian.co)
Antitrypsin Deficiency2
- COPD and liver disease caused by Alpha-1 Antitrypsin Deficiency. (bioportfolio.com)
- Augmentation with human alpha-1 proteinase inhibitor is the only specific treatment for Alpha-1-Antitrypsin Deficiency (AATD), a rare genetic disease with symptoms of progressive COPD. (bioportfolio.com)
Phenotypes1
- examination, a large amount of oligosaccharides, espe- Two α-mannosidosis phenotypes have been described cially mannose-rich oligosaccharides, was found in his or- gans and tissues [3]. (deepdyve.com)
Diagnosis5
- [2] Patients may present to doctors, nurses or health visitors at different stages of progression, and with different ad hoc symptoms, making the link to suspect a diagnosis of alpha-mannosidosis difficult. (wikipedia.org)
- Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation. (nih.gov)
- A diagnosis can be established by measuring the activity of lysosomal alpha-mannosidase in leucocytes and screening for abnormal urinary excretion of mannose-rich oligosaccharides. (nih.gov)
- Diagnosis of α-mannosidosis is made 1:500.000. (deepdyve.com)
- Diagnosis of α-mannosidosis is made by measuring acid α-mannosidase activity in leukocytes or other nucleated cells and can be confirmed by genetic testing. (biomedcentral.com)
North America3
- North America alpha mannosidosis market is also expected to witness a remarkable growth rate in the coming years. (mynewsdesk.com)
- From a geographical perspective, the North America market for alpha mannosidosis is presently the leading contributor of revenue to the global market. (transparencymarketresearch.com)
- The overall encouragement to drug development through tax credits, a favorable exclusivity stature granted to orphan drugs, and a patient pool with high disposable incomes will continue to keep North America at the forefront of the alpha mannosidosis over the forecast period as well. (transparencymarketresearch.com)
Symptoms4
- The signs and symptoms of alpha-mannosidosis can range from mild to severe. (medlineplus.gov)
- Other individuals with alpha-mannosidosis experience milder signs and symptoms that appear later and progress more slowly. (medlineplus.gov)
- Early re- 1st presentation 18.4 ± 11.8 (1-53) ports have described strabismus, opacities of the cornea Last presentation 20.8 ± 11.6 (3-53) and lens as typical ocular symptoms and pathologies in BCVA, decimal mannosidosis [5]. (deepdyve.com)
- Early reports have described strabismus, opacities of the cornea and lens as typical ocular symptoms and pathologies in mannosidosis [ 5 ]. (biomedcentral.com)
20171
- Alpha Mannosidosis Market Professional Survey Report 2017. (mynewsdesk.com)
Fucosidosis2
- Fucosidosis is a rare genetic disorder characterized by deficiency of the enzyme alpha-L-fucosidase, which is required to break down (metabolize) certain complex compounds (e.g., fucose-containing glycolipids or fucose-containing glycoproteins). (rarediseases.org)
- Low levels or inactivity of the alpha-L-fucosidase enzyme leads to the abnormal accumulation of fucose-containing compounds in the tissues of individuals with fucosidosis. (rarediseases.org)
Enzyme alpha-D-mannosidase1
- Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. (healthmedicinet.com)
Diseases6
- A promising therapy for lysosomal storage diseases (which are similar to alpha mannosidosis) is an enzyme replacement therapy (ERT). (mynewsdesk.com)
- The financial incentive in terms of market exclusivity of several years granted to companies producing drugs for orphan diseases such as alpha mannosidosis is one of the key factors encouraging companies to invest funds and resources in the research and development of such drugs. (transparencymarketresearch.com)
- The limited patient pool for orphan diseases such as alpha mannosidosis restricts a company's ability to recover funds invested in R&D activities, sometimes also despite obtaining tax credits. (transparencymarketresearch.com)
- Alpha-mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. (centogene.com)
- Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders. (healthmedicinet.com)
- Chiesi Group markets treatments for the lysosomal storage disorders alpha‑mannosidosis and nephropathic cystinosis in select markets outside the U.S. The company is also building and advancing a pipeline of innovative therapies for the treatment of LSDs and other rare diseases. (prnewswire.com)
Disorders1
- Conclusion: Ocular pathologies are not exclusively confined to opacities of the cornea and lens or strabismus and ocular motility disorders but tapeto-retinal degeneration and optic nerve atrophy may be a common feature in α-mannosidosis. (deepdyve.com)
Gene6
- This gene provides instructions for making the enzyme alpha-mannosidase. (medlineplus.gov)
- This gene encodes an enzyme that hydrolyzes terminal, non-reducing alpha-D-mannose residues in alpha-D-mannosides. (nih.gov)
- Defects in this gene have been associated with lysosomal alpha-mannosidosis. (nih.gov)
- Human ortholog(s) of this gene implicated in alpha-mannosidosis. (jax.org)
- GO annotations related to this gene include carbohydrate binding and alpha-mannosidase activity . (genecards.org)
- Champion KJ, Basehore MJ, Wood T , Destrée A, Vannuffel P, Maystadt I.Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB). (ggc.org)
Patients12
- Alpha Mannosidosis is a progressive disorder, and its presence should be suspected in patients with cognitive disabilities, skeletal changes (e.g. swollen joints, curved spine), hearing loss and recurrent infections. (wikipedia.org)
- Though this is a rare disease, a definite rise in the population has increased the number of patients thereby augmented the demand for drugs required for treating alpha mannosidosis. (mynewsdesk.com)
- Therefore the Committee recommended granting a marketing authorisation under exceptional circumstances and requested the applicant to complete an open label study to further characterise the efficacy in patients under six years of age and develop an alpha-mannosidosis disease registry, to evaluate long-term effectiveness and safety of the treatment. (healthcanal.com)
- METHODS To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. (semanticscholar.org)
- Patients with the autosomal recessive lysosomal storage disease alpha-mannosidosis suffer from recurrent infections . (symptoma.com)
- Methods: We report ocular findings of 32 patients with α-mannosidosis. (deepdyve.com)
- Patients with ML I were subsequently found to have an isolated deficiency of alpha- N -acetyl neuraminidase (sialidase) in leukocytes and cultured fibroblasts and, thus, have increased amounts of sialyloligosaccharide in the urine. (medscape.com)
- This is the first enzyme replacement therapy for the treatment of non-neurological manifestations in patients with mild to moderate alpha-mannosidosis (AM) - an ultra-rare, progressive, and debilitating disease. (hospitalhealthcare.com)
- Lamzede is the first approved treatment with disease modifying potential for alpha-mannosidosis and therefore, our next goal is to make this treatment available to patients in Europe as soon as possible. (hospitalhealthcare.com)
- Basophil Activation Test Differentiates Between Patients with Alpha-Gal Syndrome and Asymptomatic Alpha-Gal Sensitization. (bioportfolio.com)
- Detection of alpha radionuclides in air from patients during Ra-223 alpha radionuclide therapy. (bioportfolio.com)
- According to the decay scheme of Ra-223, an inert gas, Rn-219 is released from patients during alpha radionuclide therapy and its dau. (bioportfolio.com)
Inborn1
- Alpha mannosidosis is a lysosomal storage disorder , a form of inborn metabolic disease . (cdc.gov)
Glycoproteins2
- A defective alpha-mannosidase enzyme, which normally helps to break down complex sugars derived from glycoproteins in the lysosome , causes progressive lysosomal accumulation of mannose-rich oligosaccharides in all tissues, resulting in impaired cellular function and apoptosis (Figure 2). (wikipedia.org)
- In sialidosis, the deficiency of lysosomal alpha- N -acetyl neuraminidase prevents the normal degradation of glycoproteins containing sialic acid residues. (medscape.com)
Pompe1
- Pompe disease, Alpha-mannosidosis, Hunter Syndrome (MPS II), and Maroteaux-Lamy Syndrome (MPS VI). (eur.nl)
Skeletal abnormalities2
- In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impairment, hearing impairment, intellectual disability, recurrent infections and immune deficiency. (symptoma.com)
- Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. (mendelian.co)
Syndrome1
- The alpha-gal syndrome is characterized by the presence of sIgE antibodies to alpha-gal and delayed type I allergic reaction to the carbohydrate galactose-alpha-1,3-galactose (alpha-gal) after consump. (bioportfolio.com)
Disease8
- Alpha-mannosidosis is a lifelong multi-systemic progressive disease, with neuromuscular and skeletal deterioration over decades. (wikipedia.org)
- Depending on the severity of the disease, alpha-mannosidosis has been classified into three proposed subtypes, based on severity and age of onset. (wikipedia.org)
- The global market for alpha mannosidosis is being driven factors such as market exclusivity being enjoyed by orphan drugs, fee reductions, tax credits, increasing investment in the rare disease treatment, and premium pricing. (mynewsdesk.com)
- Alpha-mannosidosis is a rare disease estimated to occur in approximately 1 in 500,000 to 1 in 1,000,000 people worldwide. (healthcanal.com)
- As alpha-mannosidosis is a very rare disease, the CHMP agreed that it is not possible to provide comprehensive data on the efficacy and safety under normal conditions of use. (healthcanal.com)
- Alpha-mannosidosis (AM) is a lysosomal storage disease , which may also be referred to as lysosomal acid hydrolase alpha-mannosidase or LAHAM. (symptoma.com)
- The deficiency of this enzyme results in a recessively inherited lysosomal storage disease, called α-mannosidosis, which has been observed in different species in the animals, including domestic cows ( Bos taurus ), cats ( Felis catus ), guinea pigs ( Cavia porcellus ), sheep ( Ovis aries ) and in humans ( Homo sapiens ). (biomedcentral.com)
- The drug is the first ever treatment for Alpha-Mannosidosis (AM), an ultra-rare progressive and debilitating disease. (pharmaphorum.com)
Disorder6
- Alpha-mannosidosis is a lysosomal storage disorder , [1] first described by Swedish physician Okerman in 1967. (wikipedia.org)
- Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. (medlineplus.gov)
- Alpha-mannosidosis is a rare inherited enzyme disorder that causes cell damage through build-up of mannose-rich oligosaccharides in many organs and tissues of the body. (healthcanal.com)
- Alpha mannosidosis is an autosomal recessive lysosomal storage disorder caused by a deficiency of alpha-mannosidase enzyme activity. (isinproduction.com)
- He therefore named the disorder * Correspondence: [email protected] "mannosidosis" [4]. (deepdyve.com)
- He therefore named the disorder "mannosidosis" [ 4 ]. (biomedcentral.com)
Mild1
- Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. (nih.gov)
Oligosaccharides3
- In particular, alpha-mannosidase helps break down oligosaccharides containing a sugar molecule called mannose. (medlineplus.gov)
- Tissues and organs are damaged by the abnormal accumulation of oligosaccharides and the resulting cell death, leading to the characteristic features of alpha-mannosidosis. (medlineplus.gov)
- Lamzede is an enzyme replacement therapy intended to provide or supplement natural alpha-mannosidase - an enzyme that helps with the degradation of mannose-rich oligosaccharides and so prevents their accumulation in various tissues in the body. (hospitalhealthcare.com)
Swainsonine1
- [4] In livestock alpha-mannosidosis is caused by chronic poisoning with swainsonine from locoweed . (wikipedia.org)
Treatment4
- Lamazym, an enzyme replacement therapy for treatment of alpha mannosidosis, is designated as an orphan drug in the U.S. and the Europe. (transparencymarketresearch.com)
- Currently, there are two treatment options for α-mannosidosis: stem cell transplantation and enzyme replacement therapy (ERT). (biomedcentral.com)
- Bone marrow transplantation in the treatment of alpha-mannosidosis. (bmj.com)
- Alpha DaRT enables the first alpha-radiation-based cancer treatment for various types of solid tumors. (bioportfolio.com)
Biochemical1
- Mannosidosis can be controlled by identifying and eliminating heterozygotes on the basis of biochemical testing. (merckvetmanual.com)