PathWhiz

PathWhiz ID	Pathway	Meta Data
PW122100 View Pathway	disease Mucopolysaccharidosis VII. Sly Syndrome Rattus norvegicus Mucopolysaccharidosis type VII (MPS VII), also called Sly syndrome, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutations in the GUSB gene. This gene encodes for the beta-glucuronidase enzyme, which normally breaks down glycosaminoglycans (GAGs). However, without beta-glucuronidase, accumulation of GAGs in cells specifically the lysosome increases. The increase in cell size causes tissues and organs to become enlarged as well. This disorder is characterized by macrocephaly, a buildup of fluid in the brain, characteristic facial features, and a large tongue. Other symptoms may include hepatosplenomegaly, heart valve abnormalities, and umbilical or inguinal hernias. MPS VII also causes various skeletal abnormalities, including joint issues and decreased growth. Treatments such as enzyme replacement therapy are still fairly new, however traditionally treatments for Mucopolysaccharidosis VII included symptom relief such as surgery. It is estimated that MPS VII affects 1 in 250,000 individuals. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW000532 View Pathway	disease Mucopolysaccharidosis VII. Sly Syndrome Homo sapiens Mucopolysaccharidosis type VII (MPS VII), also called Sly syndrome, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutations in the GUSB gene. This gene encodes for the beta-glucuronidase enzyme, which normally breaks down glycosaminoglycans (GAGs). However, without beta-glucuronidase, accumulation of GAGs in cells specifically the lysosome increases. The increase in cell size causes tissues and organs to become enlarged as well. This disorder is characterized by macrocephaly, a buildup of fluid in the brain, characteristic facial features, and a large tongue. Other symptoms may include hepatosplenomegaly, heart valve abnormalities, and umbilical or inguinal hernias. MPS VII also causes various skeletal abnormalities, including joint issues and decreased growth. Treatments such as enzyme replacement therapy are still fairly new, however traditionally treatments for Mucopolysaccharidosis VII included symptom relief such as surgery. It is estimated that MPS VII affects 1 in 250,000 individuals. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW121876 View Pathway	disease Mucopolysaccharidosis VII. Sly Syndrome Mus musculus Mucopolysaccharidosis type VII (MPS VII), also called Sly syndrome, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutations in the GUSB gene. This gene encodes for the beta-glucuronidase enzyme, which normally breaks down glycosaminoglycans (GAGs). However, without beta-glucuronidase, accumulation of GAGs in cells specifically the lysosome increases. The increase in cell size causes tissues and organs to become enlarged as well. This disorder is characterized by macrocephaly, a buildup of fluid in the brain, characteristic facial features, and a large tongue. Other symptoms may include hepatosplenomegaly, heart valve abnormalities, and umbilical or inguinal hernias. MPS VII also causes various skeletal abnormalities, including joint issues and decreased growth. Treatments such as enzyme replacement therapy are still fairly new, however traditionally treatments for Mucopolysaccharidosis VII included symptom relief such as surgery. It is estimated that MPS VII affects 1 in 250,000 individuals. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW127329 View Pathway	disease Mucopolysaccharidosis VII. Sly Syndrome Homo sapiens Mucopolysaccharidosis type VII (MPS VII), also called Sly syndrome, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by mutations in the GUSB gene. This gene encodes for the beta-glucuronidase enzyme, which normally breaks down glycosaminoglycans (GAGs). However, without beta-glucuronidase, accumulation of GAGs in cells specifically the lysosome increases. The increase in cell size causes tissues and organs to become enlarged as well. This disorder is characterized by macrocephaly, a buildup of fluid in the brain, characteristic facial features, and a large tongue. Other symptoms may include hepatosplenomegaly, heart valve abnormalities, and umbilical or inguinal hernias. MPS VII also causes various skeletal abnormalities, including joint issues and decreased growth. Treatments such as enzyme replacement therapy are still fairly new, however traditionally treatments for Mucopolysaccharidosis VII included symptom relief such as surgery. It is estimated that MPS VII affects 1 in 250,000 individuals. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 09, 2022 at 15:35 Last Updated: December 09, 2022 at 15:35
PW121884 View Pathway	disease Multiple Carboxylase Deficiency, Neonatal or Early Onset Form Mus musculus Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations in the BTD gene or the HLCS gene. The BTD gene encodes for biotinidase and the HLCS gene encodes for holocarboxylase synthetase. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of enzymes dependent on biotin. Symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, and include difficulty feeding, breathing problems, a skin rash, hair loss, and lethargy. Treatment using biotin supplements if immediate and lifelong can be effective in preventing many complications and managing the disorder. However, if left untreated the disorder can lead to delayed development, seizures, and coma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:50 Last Updated: September 10, 2018 at 15:50
PW127345 View Pathway	disease Multiple Carboxylase Deficiency, Neonatal or Early Onset Form Homo sapiens Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations in the BTD gene or the HLCS gene. The BTD gene encodes for biotinidase and the HLCS gene encodes for holocarboxylase synthetase. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of enzymes dependent on biotin. Symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, and include difficulty feeding, breathing problems, a skin rash, hair loss, and lethargy. Treatment using biotin supplements if immediate and lifelong can be effective in preventing many complications and managing the disorder. However, if left untreated the disorder can lead to delayed development, seizures, and coma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: December 13, 2022 at 16:05 Last Updated: December 13, 2022 at 16:05
PW000540 View Pathway	disease Multiple Carboxylase Deficiency, Neonatal or Early Onset Form Homo sapiens Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations in the BTD gene or the HLCS gene. The BTD gene encodes for biotinidase and the HLCS gene encodes for holocarboxylase synthetase. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of enzymes dependent on biotin. Symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, and include difficulty feeding, breathing problems, a skin rash, hair loss, and lethargy. Treatment using biotin supplements if immediate and lifelong can be effective in preventing many complications and managing the disorder. However, if left untreated the disorder can lead to delayed development, seizures, and coma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: WishartLab Created On: August 29, 2013 at 10:39 Last Updated: August 29, 2013 at 10:39
PW122108 View Pathway	disease Multiple Carboxylase Deficiency, Neonatal or Early Onset Form Rattus norvegicus Holocarboxylase synthetase deficiency also called Multiple Carboxylase Deficiency, Neonatal or Early Onset Form, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder of either mutations in the BTD gene or the HLCS gene. The BTD gene encodes for biotinidase and the HLCS gene encodes for holocarboxylase synthetase. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of enzymes dependent on biotin. Symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, and include difficulty feeding, breathing problems, a skin rash, hair loss, and lethargy. Treatment using biotin supplements if immediate and lifelong can be effective in preventing many complications and managing the disorder. However, if left untreated the disorder can lead to delayed development, seizures, and coma. BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ana Marcu Created On: September 10, 2018 at 15:52 Last Updated: September 10, 2018 at 15:52
PW144535 View Pathway	drug action Mupirocin Drug Metabolism Action Pathway Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Ray Kruger Created On: October 07, 2023 at 13:50 Last Updated: October 07, 2023 at 13:50
PW064744 View Pathway	signaling Musa Homo sapiens BioPAX SVG SBGN SBML PWML All files (.zip)	Creator: Guest: Anonymous Created On: May 29, 2018 at 05:57 Last Updated: May 29, 2018 at 05:57