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What is Fanconi-Bickel syndrome?

What is Fanconi-Bickel syndrome?

  • Fanconi-Bickel syndrome: A rare inherited disorder where the impaired metabolism of carbohydrates results in a build-up of glycogen in the liver.

Fanconi-Bickel syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Fanconi-Bickel syndrome, or a subtype of Fanconi-Bickel syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Fanconi-Bickel syndrome as a "rare disease".
Source - Orphanet

Fanconi-Bickel syndrome: Introduction

Types of Fanconi-Bickel syndrome:

Broader types of Fanconi-Bickel syndrome:

How serious is Fanconi-Bickel syndrome?

Complications of Fanconi-Bickel syndrome: see complications of Fanconi-Bickel syndrome

What causes Fanconi-Bickel syndrome?

Causes of Fanconi-Bickel syndrome: see causes of Fanconi-Bickel syndrome

What are the symptoms of Fanconi-Bickel syndrome?

Symptoms of Fanconi-Bickel syndrome: see symptoms of Fanconi-Bickel syndrome

Complications of Fanconi-Bickel syndrome: see complications of Fanconi-Bickel syndrome

Onset of Fanconi-Bickel syndrome: first year of life

Fanconi-Bickel syndrome: Testing

Diagnostic testing: see tests for Fanconi-Bickel syndrome.

Misdiagnosis: see misdiagnosis and Fanconi-Bickel syndrome.

How is it treated?

Doctors and Medical Specialists for Fanconi-Bickel syndrome: Medical Geneticist ; see also doctors and medical specialists for Fanconi-Bickel syndrome.
Treatments for Fanconi-Bickel syndrome: see treatments for Fanconi-Bickel syndrome
Research for Fanconi-Bickel syndrome: see research for Fanconi-Bickel syndrome

Name and Aliases of Fanconi-Bickel syndrome

Main name of condition: Fanconi-Bickel syndrome

Other names or spellings for Fanconi-Bickel syndrome:

glycogen storage disease type XI, Glut2 deficiency, Bickel-Fanconi glycogenosis, FBS, Glycogenosis, Fanconi type, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Hepatic glycogenosis with amino aciduria and glucosuria, Hepatic glycogenosis with fanconi nephropathy, Glycogen storage disease XI, Pseudo-phlorizin diabetes, Hepatorenal glycogenosis with renal Fanconi syndrome

Glycogen storage disease type 9, Glycogenosis type 9, Pseudo-phlorizin diabetes Source - Diseases Database

FBS, Fanconi syndrome with intestinal malabsorption and galactose intolerance, Glycogen storage disease XI, Glycogenosis, Fanconi type, Hepatic glycogenosis with amino aciduria and glucosuria, Hepatic glycogenosis with fanconi nephropathy, Hepatorenal glycogenosis with renal Fanconi syndrome, Pseudo-phlorizin diabetes
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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