Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
3-methylcrotonyl-CoA carboxylase deficiency

Also known as: 3-MCC deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria, 3MCC deficiency, BMCC deficiency, MCC deficiency, MCCD, Methylcrotonyl-CoA carboxylase deficiency, methylcrotonylglycinuria

3-methylglutaconic aciduria type 1

Also known as: 3 alpha methylglutaconic aciduria type I, 3 methylglutaconic aciduria type 1, 3 methylglutaconyl CoA hydratase deficiency, 3-METHYLGLUTACONIC aciduria, type I, 3-MGCA type I (3-MGCA-1), 3-Methylglutaconic aciduria, type 1, 3-Mg-Coa-hydratase deficiency, 3-methylglutaconic aciduria caused by mutation in AUH, 3-methylglutaconic aciduria caused by mutation in auh, 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type I, 3-methylglutaconyl-CoA hydratase deficiency, 3-methylglutaconyl-CoA hydratase deficiency (auh defect), 3-methylglutaconyl-Coa hydratase deficiency, 3MG CoA hydratase deficiency, 3MG-CoA hydratase deficiency, AUH 3-methylglutaconic aciduria, MGA type I, MGA1, MGCA1, Mga, type 1, auh 3-methylglutaconic aciduria

3-methylglutaconic aciduria type 3

Also known as: 3-alpha methylglutaconic aciduria type III, 3-methylglutaconic aciduria caused by mutation in OPA3, 3-methylglutaconic aciduria type III, 3-methylglutaconic aciduria, type 3, 3-methylglutaconic aciduria, type III, Costeff optic atrophy syndrome, Costeff syndrome, Iraqi Jewish optic atrophy plus, Iraqi-Jewish 'optic atrophy plus', Iraqi-Jewish optic atrophy plus, MGA type III, MGA, type 3, MGA3, MGCA3, OPA3 3-methylglutaconic aciduria, OPA3 defect, OPA3, autosomal recessive, autosomal recessive optic atrophy plus syndrome, autosomal recessive optic atrophy type 3, infantile optic atrophy with chorea and spastic paraplegia, optic atrophy 3, autosomal recessive, optic atrophy infantile with chorea and spastic paraplegia, optic atrophy plus syndrome, optic atrophy, infantile, with chorea and spastic paraplegia

3-methylglutaconic aciduria type 4

Also known as: 3 alpha methylglutaconic aciduria type IV, 3 methylglutaconic aciduria type IV, 3-METHYLGLUTACONIC aciduria, type IV, 3-Methylglutaconic aciduria, type 4, 3-methylglutaconic aciduria type IV, MGA type IV, MGA4, MGCA4, Mga, type 4, Not otherwise specified 3-MGA-Uria type

3-methylglutaconic aciduria type 5

Also known as: 3 alpha methylglutaconic aciduria type V, 3 methylglutaconic aciduria type V, 3-METHYLGLUTACONIC aciduria, type V, 3-Methylglutaconic aciduria, type 5, 3-methylglutaconic aciduria caused by mutation in DNAJC19, 3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type V, DCMA, DCMA syndrome, DNAJC19 3-methylglutaconic aciduria, MGA 5, MGA V, MGA5, MGCA5, Mga, type 5, cardiomyopathy, dilated, with ataxia, dilated cardiomyopathy with ataxia

3-methylglutaconic aciduria type 9

Also known as: 3-METHYLGLUTACONIC aciduria, type IX, 3-Methylglutaconic aciduria, type 9, 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome, 3-methylglutaconic acuduria type IX, 3-methylglutaconic acuduria type IX, MGCA9, MGA9, MGCA9

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

Also known as: 3-MGCA type IV (formerly), 3-MGCA-4 (formerly), 3-Methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome, 3-Methylglutaconic aciduria, type 6, 3-methylglutaconic aciduria caused by mutation in SERAC1, 3-methylglutaconic aciduria type 6, 3-methylglutaconic aciduria type VI, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome, MEGDEL, MEGDEL syndrome, MGCA6, SERAC1 3-methylglutaconic aciduria, SERAC1 defect

3-methylglutaconic aciduria, type VIIB

Also known as: 3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia, 3-Methylglutaconic aciduria, type 7, 3-methylglutaconic aciduria type 7, 3-methylglutaconic aciduria type VII, 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome, CLPB 3-methylglutaconic aciduria, MEGCANN, MGA7, MGCA7

3M syndrome 1

Also known as: 3-M syndrome 1, 3-M syndrome caused by mutation in CUL7, 3-M syndrome caused by mutation in Cul7, 3M syndrome, 3M1, CUL7 3-M syndrome, Cul7 3-M syndrome, Dolichospondylic dysplasia, Le Merrer syndrome, Yakut short stature syndrome, gloomy face syndrome, three M syndrome 1, three M syndrome type 1

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