1.1.99.39: D-2-hydroxyglutarate dehydrogenase
This is an abbreviated version!
For detailed information about D-2-hydroxyglutarate dehydrogenase, go to the full flat file.
Word Map on EC 1.1.99.39
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1.1.99.39
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acidurias
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neurometabolic
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isocitrate
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2-ketoglutarate
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l2hgdh
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l-2-hga
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d-lactate
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d-malate
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chondromatosis
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metaphyseal
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oncometabolite
- 1.1.99.39
-
acidurias
-
neurometabolic
- isocitrate
- 2-ketoglutarate
- l2hgdh
-
l-2-hga
- d-lactate
- d-malate
- chondromatosis
-
metaphyseal
-
oncometabolite
Reaction
Synonyms
2-hydroxyglutarate dehydrogenase, AtD-2HGDH, D-2-HG dehydrogenase, D-2-HGA, D-2-hydroxyglutarate dehydrogenase, D2-hydroxyglutarate dehydrogenase, D2HDH, D2HGDH
ECTree
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Disease
Disease on EC 1.1.99.39 - D-2-hydroxyglutarate dehydrogenase
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alcohol dehydrogenase deficiency
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
Brain Diseases
Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.
Brain Neoplasms
Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Breast Neoplasms
D-2-hydroxyglutarate dehydrogenase in breast carcinoma as a potent prognostic marker associated with proliferation.
Chondromatosis
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.
Colitis
Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer.
Colitis, Ulcerative
Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer.
Enchondromatosis
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.
Glioma
Adult Diffuse Glioma GWAS by Molecular Subtype Identifies Variants in D2HGDH and FAM20C.
Hemangioma
Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria.
Language Development Disorders
D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene.
Lymphoma, B-Cell
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
Lymphoma, B-Cell
Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.
Lymphoma, Large B-Cell, Diffuse
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
Lymphoma, Large B-Cell, Diffuse
Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.
Muscle Hypotonia
IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.
Neoplasms
D2HGDH regulates alpha-ketoglutarate levels and dioxygenase function by modulating IDH2.
Neoplasms
Elevated d-2-hydroxyglutarate during colitis drives progression to colorectal cancer.
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