| Disease Aliases (41) | Autosomal recessive congenital methemoglobinemia Chronic familial methemoglobin reductase deficiency Congenital nadh-methemoglobin reductase deficiency Congenital infantile lactic acidosis due to lad deficiency Congenital methemoglobinemia due to nadh-cytochrome b5 reductase 3 deficiency Cytochrome b5 reductase deficiency Cytochrome-b reductase deficiency Dihydrolipoamide dehydrogenase deficiency Dld - dihydrolipoamide dehydrogenase deficiency Dld deficiency Dldd Deficiency of cytochrome-b>5< reductase Deficiency of diaphorase Deficiency of dihydrolipoamide dehydrogenase Deficiency of lipoamide reductase (nadh) Diaphorase deficiency Dihydrolipoamide dehydrogenase (e3) deficiency Dihydrolipoamide dehydrogenase e3 deficiency Dihydrolipoyl dehydrogenase deficiency E3 deficiency E3-deficient maple syrup urine disease Lipoamide dehydrogenase deficiency, lactic acidosis due to Lactic acidosis due to lad deficiency Lipoamide dehydrogenase deficiency Maple syrup urine disease, type iii Methemoglobinemia, congenital, autosomal recessive Msud3 Maple syrup urine disease with lactic acidosis Methemoglobinemia due to deficiency of methemoglobin reductase Nadh diaphorase deficiency Nadh methemoglobin reductase deficiency Nadh-cytochrome b5 reductase deficiency Nadh-cytochrome b5 reductase deficiency, type 1 Nadh-cytochrome b5 reductase deficiency, type 2 Nadh-dependent methemoglobin reductase deficiency Nadh-methemoglobin reductase deficiency Pyruvate dehydrogenase e3 deficiency Dihydrolipoamide dehydrogenase deficiency; dldd Maple syrup urine disease, type 3 Methemoglobinemia, type 1 Methemoglobinemia, type 2 |
Associated Genes (1) NCBI-RefSeq: DLD (Dihydrolipoamide dehydrogenase) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Deficiency of cytochrome-b5 reductase | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |