{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4180&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4140&ordering=-identifier","results":[{"identifier":"Glycogen storage disease 3.","acronym":"GSD3.","accession":"DI-00523","synonyms":"AGL deficiency.; Amylo-1,6-glucosidase deficiency.; Cori disease.; Forbes disease.; GDE deficiency.; Glycogen debranching enzyme deficiency.; Glycogen storage disease III.; Glycogen storage disease IIIa.; Glycogen storage disease IIIb.; Glycogen storage disease IIIc.; Glycogen storage disease IIId.; GSD-III.; GSD IIIa.; GSD IIIb.; GSD IIIc.; GSD IIId.; ","cross_references":"MeSH; D006010.","definition":"A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 2.","acronym":"GSD2.","accession":"DI-00522","synonyms":"Acid alpha-glucosidase deficiency.; Acid maltase deficiency.; Alpha-1,4-glucosidase deficiency.; AMD.; Cardiomegalia glycogenica.; GAA deficiency.; Glycogenosis generalized cardiac form.; Glycogenosis II.; Glycogen storage disease II.; GSD II.; GSD-II.; Pompe disease.; ","cross_references":"MeSH; D006009.","definition":"A metabolic disorder with a broad clinical spectrum. The severe infantile form, or Pompe disease, presents at birth with massive accumulation of glycogen in muscle, heart and liver. Cardiomyopathy and muscular hypotonia are the cardinal features of this form whose life expectancy is less than two years. The juvenile and adult forms present as limb-girdle muscular dystrophy beginning in the lower limbs. Final outcome depends on respiratory muscle failure. Patients with the adult form can be free of clinical symptoms for most of their life but finally develop a slowly progressive myopathy. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 1D.","acronym":"GSD1D.","accession":"DI-00521","synonyms":"Glycogen storage disease Id.; GSD-Id.; ","cross_references":"MeSH; D005953.","definition":"A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 1C.","acronym":"GSD1C.","accession":"DI-00520","synonyms":"Glycogen storage disease Ic.; GSD-Ic.; ","cross_references":"MeSH; D005953.","definition":"A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 1B.","acronym":"GSD1B.","accession":"DI-00519","synonyms":"Glucose-6-phosphate transport defect.; Glycogen storage disease Ib.; GSD Ib.; GSD-Ib.; ","cross_references":"MeSH; D005953.","definition":"A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. Glycogen storage disease type 1B patients also present a tendency towards infections associated with neutropenia, relapsing aphthous gingivostomatitis, and inflammatory bowel disease. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 1A.","acronym":"GSD1A.","accession":"DI-00518","synonyms":"Glucose-6-phosphatase deficiency.; Glycogen storage disease Ia.; GSD-Ia.; Hepatorenal form of glycogen storage disease.; Hepatorenal glycogenosis.; von Gierke disease.; ","cross_references":"MeSH; D005953.","definition":"A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 15.","acronym":"GSD15.","accession":"DI-02773","synonyms":"Glycogenin deficiency.; Glycogen storage disease XV.; GSD XV.; GYG1 deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder resulting in muscle weakness, associated with the glycogen depletion in skeletal muscle, and cardiac arrhythmia, associated with the accumulation of abnormal storage material in the heart. The skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers and mitochondrial proliferation. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 13.","acronym":"GSD13.","accession":"DI-02013","synonyms":"Enolase 3 deficiency.; Enolase-beta deficiency.; Glycogenosis type XIII.; Glycogen storage disease XIII.; GSD XIII.; Muscle-specific enolase-beta deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 12.","acronym":"GSD12.","accession":"DI-01176","synonyms":"ALDOA deficiency.; Aldolase A deficiency.; Glycogen storage disease XII.; GSD XII.; Red cell aldolase deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. ","keywords":"KW-0322:Glycogen storage disease.; KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Glycogen storage disease 11.","acronym":"GSD11.","accession":"DI-02478","synonyms":"Glycogen storage disease XI.; GSD XI.; Lactate dehydrogenase A deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 10.","acronym":"GSD10.","accession":"DI-02572","synonyms":"Glycogen storage disease X.; GSD X.; Muscle phosphoglycerate mutase deficiency.; Myopathy due to phosphoglycerate mutase deficiency.; PGAMM deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 0.","acronym":"GSD0.","accession":"DI-00517","synonyms":"Hypoglycemia with deficiency of glycogen synthetase in the liver.; Liver glycogen synthase deficiency.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycine N-methyltransferase deficiency.","acronym":"GNMT deficiency.","accession":"DI-01680","synonyms":"Hypermethioninemia.; ","cross_references":"MedGen; C1847720.","definition":"The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases. ","keywords":null},{"identifier":"Glycine encephalopathy with normal serum glycine.","acronym":"GCENSG.","accession":"DI-04929","synonyms":null,"cross_references":"MeSH; D020739.","definition":"An autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. ","keywords":null},{"identifier":"Glycine encephalopathy 2.","acronym":"GCE2.","accession":"DI-06697","synonyms":null,"cross_references":"MeSH; D020158.","definition":"A form of glycine encephalopathy, a metabolic disorder characterized by a high concentration of glycine in the body fluids. Affected individuals typically have severe neurological symptoms, including seizure, lethargy, and muscular hypotonia soon after birth. Most of them die within the neonatal period. Atypical cases have later disease onset and less severely affected psychomotor development. ","keywords":null},{"identifier":"Glycerol kinase deficiency.","acronym":"GKD.","accession":"DI-01663","synonyms":"GK1 deficiency.; GK deficiency.; Hyperglycerolemia.; ","cross_references":"MeSH; D002239.","definition":"A metabolic disorder manifesting as 3 clinically distinct forms: infantile, juvenile, and adult. The infantile form is the most severe and is associated with severe developmental delay and adrenal insufficiency. Patients with the adult form have no symptoms and are often detected fortuitously. GKD results in hyperglycerolemia, a condition characterized by the accumulation of glycerol in the blood and urine. ","keywords":null},{"identifier":"Glutathionuria.","acronym":"GLUTH.","accession":"DI-01675","synonyms":"Gamma-glutamyltransferase deficiency.; Gamma-glutamyltranspeptidase deficiency.; GGT deficiency.; GTG deficiency.; ","cross_references":"MeSH; D000592.","definition":"A very rare, autosomal recessive metabolic disorder characterized by the presence of glutathione in the urine, due to generalized gamma- glutamyl transpeptidase deficiency. Most patients manifest mild to moderate intellectual disability, and behavioral disturbance. Seizures, tremor, marfanoid features and strabismus are observed in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Glutathione synthetase deficiency of erythrocytes.","acronym":"GLUSYNDE.","accession":"DI-01674","synonyms":null,"cross_references":"MedGen; C1856399.","definition":"Mild form causing hemolytic anemia. ","keywords":null},{"identifier":"Glutathione synthetase deficiency.","acronym":"GSS deficiency.","accession":"DI-01673","synonyms":"5-oxoprolinuria.; Pyroglutamic aciduria.; ","cross_references":"MedGen; C0398746.","definition":"Severe form characterized by an increased rate of hemolysis and defective function of the central nervous system. ","keywords":null},{"identifier":"Glutaric aciduria 3.","acronym":"GA3.","accession":"DI-00516","synonyms":"GA III.; Glutaryl-CoA oxidase deficiency.; ","cross_references":"MeSH; D000592.","definition":"A metabolic disorder due to peroxisomal glutaryl-CoA oxidase deficiency and characterized by the excretion of abnormal quantities of glutaric acid but low 3-hydroxyglutaric acid. ","keywords":"KW-0316:Glutaricaciduria.; "}]}