Isobutyryl-Coa Dehydrogenase Deficiency (IBDD)

Alias:
Deficiency of Isobutyryl-Coa Dehydrogenase
Ibd Deficiency
Isobutyryl-Coenzyme a Dehydrogenase Deficiency
Isobutyric Aciduria
Acad8 Deficiency
Ibdd
Acyl-Coa Dehydrogenase Family, Member 8, Deficiency of
Deficiency of Acyl-Coa Dehydrogenase Family Member 8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Isobutyryl-Coa Dehydrogenase Deficiency, also known as deficiency of isobutyryl-coa dehydrogenase, is related to acyl-coa dehydrogenase, short-chain, deficiency of and dilated cardiomyopathy. An important gene associated with Isobutyryl-Coa Dehydrogenase Deficiency is ACAD8 (Acyl-CoA Dehydrogenase Family Member 8), and among its related pathways/superpathways is Metabolism. Affiliated tissues include heart, and related phenotypes are dicarboxylic aciduria and elevated circulating acylcarnitine concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
3
17
17

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
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Related Drugs

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CAS Number
Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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