Endocrinology · Endocrinology / Renal tubular disorders
Fanconi syndrome
also: Renal Fanconi syndrome
Generalized proximal tubular dysfunction causing glucosuria, aminoaciduria and phosphaturia.
- 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
- Alternative names & eponyms
- Renal Fanconi syndrome
Etiology & mechanism
Cystinosis, drugs, heavy metals, myeloma and inherited forms.
Gene(s) involved (7)
Symptoms & signs (8)
In plain terms, someone with Fanconi syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Senior–Løken syndrome
growth failure, polydipsia, polyuria
2 shared
Bartter syndrome
polydipsia, polyuria
2 shared
Conn syndrome
polydipsia, polyuria
2 shared
Fanconi–Bickel syndrome
polyuria, rickets
2 shared
Primary aldosteronism
polydipsia, polyuria
1 shared
Camurati–Engelmann syndrome
bone pain
1 shared
Cockayne syndrome
growth failure
1 shared
Congenital chloride diarrhea syndrome
dehydration
1 shared
Cornelia de Lange syndrome
growth failure
1 shared
Cyclic vomiting syndrome
dehydration
Shares genes with
None.
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