Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Fanconi renotubular syndrome

Fanconi syndrome is a disease caused by proximal tubular damage. Its features include to a variable degree aminoaciduria, glucosuria, hyperphosphaturia, and proximal renal tubular acidosis.

Systematic

Genetic disorders of proximal tubular function
Endocytotic disturbances of proximal tubular function
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Metabolic disturbances of proximal tubular function
Specific disturbances of proximal tubular transport

References:

1.

Magen D et al. (2010) A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.

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2.

Tieder M et al. (1988) Elevated serum 1,25-dihydroxyvitamin D concentrations in siblings with primary Fanconi's syndrome.

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3.

Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.

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4.

Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.

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5.

Lichter-Konecki U et al. (2001) Genetic and physical mapping of the locus for autosomal dominant renal Fanconi syndrome, on chromosome 15q15.3.

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6.

DENT CE et al. (1956) Hereditary forms of rickets and osteomalacia.

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7.

ENGLE RL et al. (1957) The adult Fanconi syndrome. II. Review of eighteen cases.

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8.

BEN-ISHAY D et al. (1961) Fanconi syndrome with hypouricemia in an adult: family study.

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9.

LUDER J et al. (1955) A familial tubular absorption defect of glucose and amino acids.

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10.

Sheldon W et al. (1961) A Familial Tubular Absorption Defect of Glucose and Amino Acids.

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11.

DENT CE et al. (1951) The genetics of cystinuria.

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12.

Friedman AL et al. (1978) Autosomal dominant Fanconi syndrome with early renal failure.

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13.

Wen SF et al. (1989) Two case studies from a family with primary Fanconi syndrome.

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14.

Bovée KC et al. (1978) Spontaneous Fanconi syndrome in the dog.

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15.

Brenton DP et al. (1981) The adult presenting idiopathic Fanconi syndrome.

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16.

Patrick A et al. (1981) A family with a dominant form of idiopathic Fanconi syndrome leading to renal failure in adult life.

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17.

Smith R et al. (1976) Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.

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18.

OMIM.ORG article

Omim 615605 [^]
19.

Orphanet article

Orphanet ID 3337 [^]
20.

Wikipedia article

Wikipedia EN (Fanconi_syndrome) [^]
Update: April 29, 2019