Mitochondrial Trifunctional Protein Deficiency 1 (MTPD1)

Alias:
Trifunctional Protein Deficiency
Mitochondrial Trifunctional Protein Deficiency
Mtpd1
Trifunctional Protein Deficiency with Myopathy and Neuropathy
Mtpd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mitochondrial Trifunctional Protein Deficiency 1, also known as trifunctional protein deficiency, is related to long-chain 3-hydroxyacyl-coa dehydrogenase deficiency and mitochondrial trifunctional protein deficiency. An important gene associated with Mitochondrial Trifunctional Protein Deficiency 1 is HADHA (Hydroxyacyl-CoA Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha), and among its related pathways/superpathways are Fatty acid metabolism and Glycerophospholipid biosynthesis. The drugs Glycerin and Heparin, bovine have been mentioned in the context of this disorder. Affiliated tissues include heart and liver, and related phenotype is Increased shRNA abundance (Z-score > 2).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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3
12
73

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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