Fanconi Renotubular Syndrome 1 (FRTS1)

Alias:
Renal Fanconi Syndrome
Adult Fanconi Syndrome
Fanconi Syndrome Without Cystinosis
Fanconi Renotubular Syndrome
Luder-Sheldon Syndrome
Frts1
Frts
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fanconi Renotubular Syndrome 1, also known as renal fanconi syndrome, is related to primary fanconi renotubular syndrome and fanconi syndrome. An important gene associated with Fanconi Renotubular Syndrome 1 is GATM (Glycine Amidinotransferase), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are aminoaciduria and metabolic acidosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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12
160
19

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

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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