Primary Fanconi Renotubular Syndrome

Alias:
Primary Fanconi Renal Syndrome
Detoni-Debré-Fanconi Syndrome
Detoni-Debre-Fanconi Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Primary Fanconi Renotubular Syndrome, also known as primary fanconi renal syndrome, is related to fanconi syndrome and osteomalacia. An important gene associated with Primary Fanconi Renotubular Syndrome is EHHADH (Enoyl-CoA Hydratase And 3-Hydroxyacyl CoA Dehydrogenase). Affiliated tissues include kidney and bone, and related phenotypes are growth delay and proximal renal tubular acidosis
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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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4
26
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Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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