Aminoaciduria

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aminoaciduria is related to fanconi renotubular syndrome 1 and hartnup disorder. An important gene associated with Aminoaciduria is CLTRN (Collectrin, Amino Acid Transport Regulator), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Disorders of transmembrane transporters. Affiliated tissues include kidney and bone, and related phenotypes are renal/urinary system and homeostasis/metabolism
Related ID:
ICD11:1360782719

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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17
138
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Medical Symptom

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

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
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References Literature

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