Fanconi Bickel syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Hepatorenal glycogenosis with renal Fanconi syndrome; Hepatorenal glycogenosis with renal fanconi syndrome; Hepatic glycogenosis with amino aciduria and glucosuria;
Congenital and Genetic Diseases; Digestive Diseases; Kidney and Urinary Diseases;
Fanconi Bickel syndrome is caused by
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
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|Elevated alkaline phosphatase||
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
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|Failure to thrive||
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Glucose in urine
High urine phosphate levels
Low blood potassium levels
Low blood phosphate level
Low blood uric acid levels
|Impairment of galactose metabolism||0004915|
Softening of the bones
|Reduced subcutaneous adipose
Reduced fat tissue below the skin
|Renal tubular dysfunction||
Abnormal function of filtrating structures in kidney
It is recommended that people with Fanconi Bickel syndrome follow a galactose-restricted diet. Galactose is a substance that is broken down into glucose. Because people with Fanconi Bickel syndrome have trouble moving glucose throughout the body, limiting galactose prevents the buildup of glucose and glycogen in the liver and kidneys. Galactose is found in food such as milk, cheese, yogurt, and legumes. People with Fanconi Bickel syndrome should primarily eat fructose as their main carbohydrate. In addition, people with Fanconi Bickel syndrome should eat small, frequent meals in order to avoid developing
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The principle differential diagnosis is type I glycogen storage disease, which is caused by glucose-6-phosphatase deficiency. The renal phenotype must be differentiated from other forms of genetically determined Fanconi Syndrome.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Association for Glycogen Storage Disease UK (AGSD-UK)
PO Box 1232
Telephone: 0300 123 2790
Children's Fund for Glycogen Storage Disease Research, Inc.
20 Sherwood Lane
Cheshire, CT 06410
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Fanconi Bickel syndrome. Click on the link to view a sample search on this topic.
- Berg JM, Tymoczko JL, and Stryer L. Chapter 21: Glycogen Metabolism. Biochemistry. New York: WH Freeman; 2002; 5th edition:https://www.ncbi.nlm.nih.gov/books/NBK21190/.
- Dominique-Charles Valla. Glycogen storage disease due to GLUT2 deficiency. Orphanet. October 2008; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2088. Accessed 12/12/2012.
- Kehar M, Bijarnia S, Ellard S, Houghton J, Saxena R, Verma IC, and Wadhwa N. Fanconi Bickel syndrome – mutation in SLC2A2 gene. Indian Journal of Pediatrics. November 2014; 81(11):1237-1239. https://www.ncbi.nlm.nih.gov/pubmed/24912437.
- Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R. Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. Mol Genet Metab. March 2012; 105(3):433-437.
- Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi-Bickel syndrome. Indian Journal of Pediatrics. January 2012; 79(1):112-114. https://www.ncbi.nlm.nih.gov/pubmed/21327337.
- Fanconi-Bickel syndrome; FBS. Online Mendelian Inheritance in Man; October 6, 2014; https://www.omim.org/entry/227810.