Fanconi Syndrome

Alias:

Infantile Nephropathic Cystinosis

De Toni-Debre-Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Adult Fanconi Syndrome

Cystinosis, Infantile Nephropathic

Fanconi Renotubular Syndrome

Fanconi-De-Toni Syndrome

Fanconi-Bickel Syndrome

Detoni Fanconi Syndrome

Renal Fanconi Syndrome

Adult Fanconi Anemia

Lowe-Bickel Syndrome

Fanconi Anemia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fanconi Syndrome, also known as infantile nephropathic cystinosis, is related to fanconi renotubular syndrome 1 and primary fanconi renotubular syndrome. An important gene associated with Fanconi Syndrome is CTNS (Cystinosin, Lysosomal Cystine Transporter), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Proximal tubule transport. The drugs Tacrolimus and Sargramostim have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related phenotypes are failure to thrive and constipation

Related ID：

MALACARDS：FNC004

MESH：D005198

ICD11：788002727