Fanconi syndrome

Also known as: Renal Fanconi syndrome

Generalized proximal tubular dysfunction causing glucosuria, aminoaciduria and phosphaturia.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Renal tubular disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: ATP7B, CTNS, EHHADH, FAH, GALT, HNF4A, SLC34A1

Etiology & mechanism

Cystinosis, drugs, heavy metals, myeloma and inherited forms.

Gene(s) involved (7)

ATP7BCTNSEHHADHFAHGALTHNF4ASLC34A1

Symptoms & signs (8)

acidosisbone paindehydrationgrowth failureosteomalaciapolydipsiapolyuriarickets

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.