Fanconi-Bickel syndrome as an example of marked allelic heterogeneity

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Jun 6, 2012 (publication date) through Aug 1, 2024

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World Journal of Nephrology

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2220-6124

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Nephrol. Jun 6, 2012; 1(3): 63-68
Published online Jun 6, 2012. doi: 10.5527/wjn.v1.i3.63

Table 1 Chromosomal mapping of some inherited forms of proximal renal tubular acidosis[49,69,70]

Inherited Fanconi syndromes	Gene	Mapping
Fanconi-Bickel syndrome	SLC2A2	Chromosome 3q26.1-26.3
Autosomal recessive	SLC4A4	Chromosome 4q21
Dent´s syndrome	CLCN5	Chromosome Xp11.22
Cystinosis	SLC3A1, SLC7A9	Chromosome 2p21, Chromosome 19p13.1
Tyrosinemia type 1	FAH	Chromosome 15q23-q25
Galactosemia	GALT	Chromosome 9p13
Wilson´s disease	ATP7B	Chromosome 13q14.3-q21.1

Citation: Al-Haggar M. Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. World J Nephrol 2012; 1(3): 63-68
URL: https://www.wjgnet.com/2220-6124/full/v1/i3/63.htm
DOI: https://dx.doi.org/10.5527/wjn.v1.i3.63