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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6720&ordering=-synonyms",
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"results": [
{
"identifier": "3-methylglutaconic aciduria 7B.",
"acronym": "MGCA7B.",
"accession": "DI-04365",
"synonyms": "3-methylglutaconic aciduria, type VII.; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia.; MEGCANN.; MGCA7.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections. ",
"keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; "
},
{
"identifier": "3-methylglutaconic aciduria 8.",
"acronym": "MGCA8.",
"accession": "DI-04904",
"synonyms": "3-methylglutaconic aciduria, type VII.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3- methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.",
"acronym": "MEGDEL.",
"accession": "DI-03495",
"synonyms": "3-methylglutaconic aciduria, type VI.; 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome.; MEGDHEL.; MGCA6.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "3-methylglutaconic aciduria 9.",
"acronym": "MGCA9.",
"accession": "DI-05109",
"synonyms": "3-methylglutaconic aciduria, type IX.; ",
"cross_references": "MeSH; D008661.",
"definition": "An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "3-methylcrotonoyl-CoA carboxylase 1 deficiency.",
"acronym": "MCC1D.",
"accession": "DI-00742",
"synonyms": "3-methylcrotonylglycinuria type I.; MCC1 deficiency.; MCCD type 1.; MCGI.; Methylcrotonylglycinuria type I.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. ",
"keywords": null
},
{
"identifier": "3-methylcrotonoyl-CoA carboxylase 2 deficiency.",
"acronym": "MCC2D.",
"accession": "DI-00743",
"synonyms": "3-methylcrotonylglycinuria type II.; MCC2 deficiency.; MCGII.; Methylcrotonylglycinuria type II.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. ",
"keywords": null
},
{
"identifier": "Khan-Khan-Katsanis syndrome.",
"acronym": "3KS.",
"accession": "DI-05588",
"synonyms": "3K syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by multiple congenital anomalies affecting the ocular, renal, skeletal, and sometimes cardiac systems, defects in urogenital and limb morphogenesis, poor overall growth, microcephaly, and global developmental delay. ",
"keywords": null
},
{
"identifier": "Vertebral, cardiac, renal, and limb defects syndrome 1.",
"acronym": "VCRL1.",
"accession": "DI-05094",
"synonyms": "3-hydroxyanthranilic acidemia.; Congenital NAD deficiency disorder 1.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. ",
"keywords": null
},
{
"identifier": "Ritscher-Schinzel syndrome 1.",
"acronym": "RTSC1.",
"accession": "DI-04011",
"synonyms": "3C syndrome.; Craniocerebellocardiac dysplasia.; Dandy-Walker-like malformation with atrioventricular septal defect.; ",
"cross_references": "MeSH; D019465.",
"definition": "A developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital bile acid synthesis defect 1.",
"acronym": "CBAS1.",
"accession": "DI-00329",
"synonyms": "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency.; Neonatal progressive intrahepatic cholestasis.; PFIC4.; Progressive familial intrahepatic cholestasis type 4.; ",
"cross_references": "MeSH; D002780.",
"definition": "A primary defect in bile synthesis leading to progressive liver disease. Clinical features include neonatal jaundice, severe intrahepatic cholestasis, cirrhosis. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Adrenal hyperplasia 2.",
"acronym": "AH2.",
"accession": "DI-00042",
"synonyms": "3-beta-HSD deficiency.; 3-beta-hydroxysteroid dehydrogenase type II deficiency.; Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency.; Adrenal hyperplasia type II.; AH-II.; Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase type II deficiency.; ",
"cross_references": "MeSH; D000312.",
"definition": "A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. ",
"keywords": "KW-0954:Congenital adrenal hyperplasia.; "
},
{
"identifier": "3-methylglutaconic aciduria 5.",
"acronym": "MGCA5.",
"accession": "DI-00007",
"synonyms": "3-alpha-methylglutaconic aciduria type 5.; DCMA.; Dilated cardiomyopathy with ataxia.; MGA5.; MGA type V.; ",
"cross_references": "MeSH; D002311.",
"definition": "An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "3-methylglutaconic aciduria 3.",
"acronym": "MGCA3.",
"accession": "DI-00006",
"synonyms": "3-alpha-methylglutaconic aciduria type 3.; Costeff optic atrophy syndrome.; Costeff syndrome.; MGA3.; MGA type III.; Optic atrophy 3 autosomal recessive.; Optic atrophy plus syndrome.; ",
"cross_references": "MeSH; D015418.",
"definition": "An autosomal recessive metabolic disorder that causes a neuro- ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels. ",
"keywords": null
},
{
"identifier": "Barth syndrome.",
"acronym": "BTHS.",
"accession": "DI-00005",
"synonyms": "3-alpha-methylglutaconic aciduria type 2.; 3-methylglutaconic aciduria type 2.; 3-methylglutaconic aciduria type II.; AGM2.; Cardioskeletal myopathy-neutropenia.; Cardioskeletal myopathy with neutropenia and abnormal mitochondria.; INVM.; Left ventricular non-compaction isolated X-linked.; MGA2.; MGA type II.; MGCA2.; Non-compaction of left ventricular myocardium isolated X-linked.; ",
"cross_references": "MeSH; D056889.",
"definition": "An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "3-methylglutaconic aciduria 1.",
"acronym": "MGCA1.",
"accession": "DI-00004",
"synonyms": "3-alpha-methylglutaconic aciduria type 1.; 3-alpha-methylglutaconyl-CoA hydratase deficiency.; 3-methylglutaconyl-CoA hydratase deficiency.; 3MG-CoA hydratase deficiency.; MGA1.; MGA type I.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3- hydroxyisovaleric acid excretion (not present in other MGCA forms). ",
"keywords": null
},
{
"identifier": "Short/branched-chain acyl-CoA dehydrogenase deficiency.",
"acronym": "SBCADD.",
"accession": "DI-02302",
"synonyms": "2-methylbutyryl-CoA dehydrogenase deficiency.; 2-methylbutyryl glycinuria.; ",
"cross_references": "MedGen; C1864912.",
"definition": "Autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an increase of 2- methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures and psychomotor delay as the main clinical features. ",
"keywords": null
},
{
"identifier": "Alpha-aminoadipic and alpha-ketoadipic aciduria.",
"acronym": "AAKAD.",
"accession": "DI-03673",
"synonyms": "2-aminoadipic 2-oxoadipic aciduria.; 2-ketoadipic aciduria.; AMOXAD.; ",
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive metabolic disorder characterized by increased levels of 2-oxoadipate and 2-hydroxyadipate in the urine, and elevated 2-aminoadipate in the plasma. Patients can have mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy. Most cases are asymptomatic. ",
"keywords": null
},
{
"identifier": "Adenine phosphoribosyltransferase deficiency.",
"acronym": "APRTD.",
"accession": "DI-01188",
"synonyms": "2,8-dihydroxyadenine urolithiasis.; APRT deficiency.; Nephrolithiasis DHA.; Urolithiasis DHA.; ",
"cross_references": "MeSH; D011686.",
"definition": "An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. ",
"keywords": null
},
{
"identifier": "Rickets vitamin D-dependent 1B.",
"acronym": "VDDR1B.",
"accession": "DI-00008",
"synonyms": "25-hydroxyvitamimn D3 deficiency selective.; 25-hydroxyvitamin D(3) deficiency.; Pseudovitamin D(3) deficiency rickets due to 25-hydroxylase deficiency.; Selective 25-hydroxyvitamin D(3) deficiency.; ",
"cross_references": "MeSH; D012279.",
"definition": "An autosomal recessive disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. The patients sera have low calcium concentrations, low phosphate concentrations, elevated alkaline phosphatase activity and low levels of 25-hydroxyvitamin D. ",
"keywords": null
},
{
"identifier": "Hyperprolinemia 2.",
"acronym": "HYRPRO2.",
"accession": "DI-01783",
"synonyms": "1-pyrroline-5-carboxylate dehydrogenase deficiency.; HPII.; Hyperprolinemia type II.; ",
"cross_references": "MeSH; D000592.",
"definition": "An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay. ",
"keywords": null
}
]
}