{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2580&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2540&ordering=identifier","results":[{"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 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 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 4.","acronym":"GSD4.","accession":"DI-00524","synonyms":"Amylopectinosis.; Andersen disease.; GBE1 deficiency.; Glycogen branching enzyme deficiency.; Glycogenosis IV.; Glycogen storage disease IV.; GSD IV.; GSD-IV.; ","cross_references":"MeSH; D006011.","definition":"A metabolic disorder characterized by the accumulation of an amylopectin-like polysaccharide. The typical clinical manifestation is liver disease of childhood, progressing to lethal hepatic cirrhosis. Most children with this condition die before two years of age. However, the liver disease is not always progressive. No treatment apart from liver transplantation has been found to prevent progression of the disease. There is also a neuromuscular form of glycogen storage disease type 4 that varies in onset (perinatal, congenital, juvenile, or adult) and severity. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 5.","acronym":"GSD5.","accession":"DI-00525","synonyms":"Glycogen storage disease V.; GSD V.; GSD-V.; McArdle disease.; Myophosphorylase deficiency.; ","cross_references":"MeSH; D006012.","definition":"A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 6.","acronym":"GSD6.","accession":"DI-00526","synonyms":"Glycogen storage disease VI.; Glycogen storage disease VIb.; GSD-VI.; Hers disease.; Liver phosphorylase deficiency.; ","cross_references":"MeSH; D006013.","definition":"A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 7.","acronym":"GSD7.","accession":"DI-00527","synonyms":"Glycogen storage disease VII.; GSD VII.; GSD-VII.; Muscle phosphofructokinase deficiency.; PFKM deficiency.; Tarui disease.; ","cross_references":"MeSH; D006014.","definition":"A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 9A.","acronym":"GSD9A.","accession":"DI-00528","synonyms":"Glycogen storage disease IXa.; Glycogen storage disease IXa1.; Glycogen storage disease IXa2.; Glycogen storage disease VIa.; Glycogen storage disease VIII.; GSD9A1.; GSD9A2.; GSD-IXa.; GSD-VIa.; GSD-VIII.; Hepatic phosphorylase kinase deficiency.; XLG.; X-linked liver glycogenosis.; X-linked liver glycogenosis type I.; X-linked liver glycogenosis type II.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 9B.","acronym":"GSD9B.","accession":"DI-00529","synonyms":"Glycogen storage disease IXb.; GSD-IXb.; Phosphorylase kinase deficiency of liver and muscle.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 9C.","acronym":"GSD9C.","accession":"DI-00530","synonyms":"ALG.; Autosomal liver glycogenosis.; Glycogen storage disease IXc.; GSD-IXc.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease 9D.","acronym":"GSD9D.","accession":"DI-00531","synonyms":"Glycogen storage disease IXd.; GSD IXd.; Muscle phosphorylase kinase deficiency.; X-linked muscle glycogenosis.; ","cross_references":"MeSH; D006008.","definition":"A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Glycogen storage disease of heart lethal congenital.","acronym":"GSDH.","accession":"DI-01676","synonyms":"Congenital nonlysosomal cardiac glycogenosis.; Phosphorylase kinase deficiency of heart.; ","cross_references":"MedGen; C1849813.","definition":"Rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise. ","keywords":null},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 1.","acronym":"GPIBD1.","accession":"DI-01677","synonyms":"Glycosylphosphatidylinositol deficiency.; GPID.; ","cross_references":"MeSH; D012640.","definition":"An autosomal recessive disorder characterized by portal vein thrombosis and portal hypertension, absence seizures, macrocephaly, splenomegaly, cytopenias and early-onset cerebral infarctions. ","keywords":null},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 11.","acronym":"GPIBD11.","accession":"DI-04229","synonyms":"HPMRS5.; ","cross_references":"MeSH; D010760.","definition":"An autosomal recessive neurologic disorder characterized by developmental delay, intellectual disability, tonic seizures associated with hypsarrhythmia, dysmorphic facial features, and elevated serum alkaline phosphatase. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 15.","acronym":"GPIBD15.","accession":"DI-05160","synonyms":"Developmental delay, epilepsy, cerebellar atrophy, and osteopenia.; ","cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. ","keywords":null},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 16.","acronym":"GPIBD16.","accession":"DI-05164","synonyms":"MRT62.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, and seizures. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 17.","acronym":"GPIBD17.","accession":"DI-05271","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. ","keywords":"KW-0887:Epilepsy.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 18.","acronym":"GPIBD18.","accession":"DI-05347","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Glycosylphosphatidylinositol biosynthesis defect 25.","acronym":"GPIBD25.","accession":"DI-06475","synonyms":"Neurodevelopmental disorder with hypotonia and contractures.; ","cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder with onset in early infancy and characterized by global developmental delay with almost no milestone achievement, brain anomalies, hypotonia, and contractures. Death may occur in early childhood. ","keywords":null},{"identifier":"GM1-gangliosidosis 1.","acronym":"GM1G1.","accession":"DI-00532","synonyms":"Beta-galactosidase-1 deficiency.; Gangliosidosis generalized GM1 infantile type.; Gangliosidosis generalized GM1 type 1.; GLB1 deficiency.; GM1-gangliosidosis infantile.; ","cross_references":"MeSH; D016537.","definition":"An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life. ","keywords":"KW-0331:Gangliosidosis.; "}]}