Amed Syndrome, Digenic (AMEDS)

Alias:
Amed Syndrome
Ameds
Bone Marrow Failure Syndrome 7, Digenic
Bmfs7
Aplastic Anemia-Intellectual Disability-Dwarfism Syndrome
Aldehyde Degradation Deficiency Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amed Syndrome, Digenic, also known as amed syndrome, is related to alcohol dependence and fanconi anemia, complementation group a. An important gene associated with Amed Syndrome, Digenic is ADH5 (Alcohol Dehydrogenase 5 (Class III), Chi Polypeptide), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Oxidation by cytochrome P450. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are intellectual disability and short stature
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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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8
52
15

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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