Mitochondria Phenome Knowledgebase

Phenotypic Feature Hydroxyisovaleric-aciduria finds 22 Gene-Feature associations that are associated with 18 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACAT1 203750 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated; 3 hydroxyisovalerate elevated metabolic 8930414
AUH 250950 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated metabolic 6181239 9762598 10896289 12434311 12655555 15033206
AUH 250950 Organic-acids-abnormal 3 methylglutaconic aciduria; 3 methylglutaric aciduria; 3 hydroxyisovaleric aciduria metabolic #3082934 6181239 9762598 10896289 12434311 12655555 15033206
BCKDHA 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methylvaleric aciduria; branched chain ketoaciduria; 2 oxo aciduria; positive urinary DNPH reaction metabolic 7707687 12118532 14567968 14742428 16601891
BCKDHB 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; 2 oxo aciduria metabolic 7707687 11448970 14567968 14742428
DBT 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; branched chain ketoaciduria metabolic 9239422 12118532 14567968 14742428
DLD 248600 Organic-acids-abnormal 2 oxoisocaproic aciduria; 2 oxo 3 methylvaleric aciduria; 2 oxoisovaleric aciduria; 2 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 2 hydroxy 3 methyvaleric aciduria; lactic aciduria; elevated tricarboxylic acid cycle intermediates metabolic 413089 3769994 6418873 6897145 8506365 8968745 9540846 9934985 10448086 11687750 12925875 14765544 15712224
ETFA 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 1430199 12486872 12815589 16510302
ETFB 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 9350306 12706375 12815589 16510302
ETFDH 231680 Organic-acids-abnormal ethylmalonic aciduria; glutaric aciduria; butyric aciduria; methylbutyric aciduria; isobutyric aciduria; isovaleric aciduria; propionic aciduria; dicarboxylic aciduria; 2 hydroxyglutaric aciduria; 3 hydroxyisovaleric aciduria; 2 hydroxyisocaproic aciduria; 5 hydroxyhexanoic aciduria metabolic 10356148 #12359134 12815589 15662686 15669683
HLCS 253270 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated; 3 hydroxyisovalerate elevated metabolic 2515377 8319716 9686819 10234606 10653324 10770035 12124727 12633764 12855220
HMGCL 246450 Hydroxyisovaleric-aciduria 3 Hydroxyisovaleric acid elevated metabolic 1886403 3128690 9439591 15308132
HMGCL 246450 Organic-acids-abnormal 3 hydroxy 3 methylglutaric aciduria; 3 methylglutaric aciduria; 3 methylglutaconic aciduria; 3 hydroxyisovaleric aciduria; glutaric aciduria; dicarboxylic aciduria metabolic 1886403 3128690 8440722 9439591 9463337 11461194 15308132
IVD 243500 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated; isovaleric acidemia metabolic 2124776 8765634 8830183 9673537 10191353 10677295 12911192 16602101
MCCC1 210200 Organic-acids-abnormal 3 methylcrotonyl glycinuria; 3 hydroxyisovaleric aciduria; ketonuria; 3 hydroxybutyric aciduria metabolic 2738779 10485305 11170888 11181649 11406611 11893004 15359379 15868465 16010683
MCCC1 210200 Hydroxyisovaleric-aciduria 3 Hydroxyisovaleric acid elevated; 3 HIVA metabolic 2738779 10485305 11181649 11406611 11893004 15359379 15868465 16010683
MCCC2 210210 Hydroxyisovaleric-aciduria 3 Hydroxyisovaleric acid elevated; 3 HIVA metabolic 1293382 7128647 8831079 9537490 11170888 11181649 11406611 15877210 16010683
MCCC2 210210 Organic-acids-abnormal 3 methylcrotonyl glycinuria; 3 hydroxyisovaleric aciduria; lactic aciduria; 3 hydroxybutyric aciduria metabolic 1293382 7128647 8831079 9537490 9544913 11170888 11181649 11406611 15877210 16010683
OXCT1 245050 Organic-acids-abnormal dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxyisovaleric aciduria; ketonuria; acetoacetate uria; 3 hydroxybutyrate uria metabolic 7474899 8803771 9392403 9521962 11757586 15496607
PCCA 606054 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated metabolic 15164333
PCCB 606054 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated metabolic 10910839
TAZ 302060 Hydroxyisovaleric-aciduria 3 hydroxyisovaleric acid elevated metabolic 12032589

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