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ENHsd10 Mitochondrial Disease (HSD10MD)
Alias:
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency
Mhbd Deficiency
2-Methyl-3-Hydroxybutyric Aciduria
Hsd10 Deficiency
Hsd10 Disease
17-Beta-Hydroxysteroid Dehydrogenase X Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Ii Deficiency
Hsd17b10 Deficiency
Hsd10md
Mrxs10
Camr
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Infantile Type
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Neonatal Type
2-Methyl-3-Hydroxybutyryl-Coa Dehydrogenase Deficiency, Classic Type
Choreoathetosis with Mental Retardation and Abnormal Behavior
Mental Retardation with Choreoathetosis and Abnormal Behavior
3-Hydroxy-2-Methylbutyryl-Coa Dehydrogenase Deficiency
17β-Hydroxysteroid Dehydrogenase Type 10 Deficiency
2-Methyl-3-Hydroxybutyric Aciduria, Infantile Type
3-Hydroxyacyl-Coa Dehydrogenase Type Ii Deficiency
2-Methyl-3-Hydroxybutyric Aciduria, Neonatal Type
3-Hydroxyacyl-Coa Dehydrogenase Type 2 Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Type-2 Deficiency
Hydroxyacyl-Coa Dehydrogenase, Type 2, Deficiency
2-Methyl-3-Hydroxybutyric Aciduria, Classic Type
Hydroxyacyl-Coa Dehydrogenase Ii Deficiency
Mental Retardation, X-Linked, Syndromic 10
Hsd10 Deficiency, Infantile Type
Mhbd Deficiency, Infantile Type
Hsd10 Deficiency, Neonatal Type
Hsd10 Deficiency, Classic Type
Mhbd Deficiency, Neonatal Type
Hsd10 Disease, Infantile Type
Mhbd Deficiency, Classic Type
Hsd10 Disease, Neonatal Type
Hsd10 Disease, Classic Type
3h2mbd Deficiency
Hsd10 Mi Disease
2m3hba
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Hsd10 Mitochondrial Disease, also known as 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, is related to syndromic x-linked intellectual disability type 10 and 2-methylbutyryl-coa dehydrogenase deficiency, and has symptoms including muscle spasticity, seizures and agitation. An important gene associated with Hsd10 Mitochondrial Disease is HSD17B10 (Hydroxysteroid 17-Beta Dehydrogenase 10). The drugs Bortezomib and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include heart and bone marrow, and related phenotypes are seizure and global developmental delay
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MALACARDS
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