raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:35123

OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency

inactive · referred to ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Synonyms: OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency · OBSOLETE: HSD deficiency

Type
Disease
Group
Disorder
Status
inactive
Flag
Obsolete entity

This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

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Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enOBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiencyOBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 · OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency · OBSOLETE: HSD deficiency
frOBSOLETE : Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à cha”ne courteOBSOLETE : Déficit en 17b-hydroxystéroïde déshydrogénase type 10 · OBSOLETE : Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase · OBSOLETE : Déficit en 3-hydroxy-2-méthylbutyryl-CoA déshydrogénase · OBSOLETE : Déficit en HSD · OBSOLETE : Déficit en MHBD · OBSOLETE : Déficit en SCHAD
deOBSOLET: Kurzketten-3-Hydroxylacyl-CoA-Dehydrogenase-MangelOBSOLET: 17-beta-HSD-Mangel · OBSOLET: 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel · OBSOLET: 3-Hydroxy-2-Methylbutyrat-CoA-Dehydrogenase-Mangel · OBSOLET: SCHAD-Mangel
esOBSOLETO: Deficiencia de 3-hidroxiacil-CoA deshidrogenasa de cadena cortaOBSOLETO: Deficiencia de 17-b hidroxiesteroide deshidrogenasa tipo 10 · OBSOLETO: Deficiencia de 3-hidroxi-2-methilbutiril-CoA deshidrogenasa · OBSOLETO: Deficiencia de HSD
itOBSOLETO: Deficit di 3-idrossiacil-CoA deidrogenasi degli acidi grassi a catena cortaOBSOLETO: Deficit di 17b-idrossisteroido deidrogenasi, tipo 10 · OBSOLETO: Deficit di 3-idrossi-2-metilbutirril-CoA deidrogenasi · OBSOLETO: Deficit di HSD
nlOBSOLEET: Korte keten 3-hydroxyacyl-CoA-dehydrogenasedeficiëntieOBSOLEET: 17-hydroxysteroïdedehydrogenasedeficiëntie type 10 · OBSOLEET: 2-methyl-3-hydroxybutyryl-CoA-dehydrogenasedeficiëntie · OBSOLEET: 3-hydroxy-2-methylbutyryl-CoA-dehydrogenasedeficiëntie · OBSOLEET: HSD-deficiëntie · OBSOLEET: MHBD-deficiëntie · OBSOLEET: SCHAD-deficiëntie
ptOBSOLETO: Deficiência de 3-hidroxilacil-CoA desidrogenase de cadeias curtasOBSOLETO: Deficiência de 17b-hidroxisteróide desidrogenase tipo 10 · OBSOLETO: Deficiência de 2-metil-3-hidroxibutiril-CoA desidrogenase · OBSOLETO: Deficiência de 3-hidroxi-2-metilbutiril-CoA desidrogenase · OBSOLETO: Deficiência de HSD · OBSOLETO: Deficiência de MHBD · OBSOLETO: Deficiência de SCHAD
plNIEAKTUALNE: Niedobór dehydrogenazy krótkolancuchowego 3-hydroksyacetylo-CoANIEAKTUALNE: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Niedobór dehydrogenazy 2-metylo - 3-hydroksybutyrylo-CoA · NIEAKTUALNE: Niedobór dehydrogenazy 17b-hydrosteroidowej typu 10 · NIEAKTUALNE: Niedobór dehydrogenazy 3-hydroksy-3metylobutyrylo-CoA · NIEAKTUALNE: Niedobór HSD · NIEAKTUALNE: Niedobór MHBD · NIEAKTUALNE: Niedobór SCHAD
csNEAKTUÁLNÍ: Deficit 3-hydroxyacyl-CoA dehydrogenázy s krátkým řetězcem= en
ukЗАСТАРІЛО: Дефіцит коротколанцюгової 3-гідроксиацил-КоА-дегідрогеназиЗАСТАРІЛО: Дефіцит 17b-гідроксистероїддегідрогенази, тип 10 · ЗАСТАРІЛО: Дефіцит 3-гідрокси-2-метилбутирил-КоА-дегідрогенази · ЗАСТАРІЛО: Недостатність HSD
zh弃用:短链3-羟酰基辅酶A脱氢酶缺乏症3-羟基-2-甲基丁酰辅酶A脱氢酶缺乏症
trEski adı: Kısa zincirli 3-hidroksiasil-CoA dehidrogenaz eksikliğiHSD eksikliği · 17b-hidroksisteroid dehidrojenaz eksikliği tip 10 · 3-hidroksi-2-metilbütiril-CoA dehidrojenaz eksikliği
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Cross-references

qualifier = Orphanet mapping relation

No cross-references in this release.

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Classification

Not placed in any Orphanet classification in this release.

No children.

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Genes

0 direct

Orphanet records no gene directly on this code.

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Prevalence and incidence

0 records

No prevalence record in this release.

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HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

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Sources for this card