FBS
MCID: FNC009
MIFTS: 55
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Fanconi-Bickel Syndrome (FBS)
Categories:
Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Fanconi-Bickel Syndrome:
Characteristics:Orphanet epidemiological data:59
glycogen storage disease due to glut2 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; HPO:32
glycogen storage disease xi:
Onset and clinical course juvenile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Liver diseases Nephrological diseases Gastrointestinal diseases
ICD10:
34
Orphanet: 59
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NIH Rare Diseases
:
53
Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease. Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and weakened bones (rickets). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly).
Fanconi Bickel syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing. Treatment is focused on relieving symptoms of the condition, particularly the symptoms that affect the kidneys.
MalaCards based summary : Fanconi-Bickel Syndrome, also known as glycogen storage disease xi, is related to glycogen storage disease and neonatal diabetes mellitus, and has symptoms including myalgia, muscle rigidity and muscle cramp. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and kidney, and related phenotypes are failure to thrive and global developmental delay OMIM : 57 Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport. (227810) UniProtKB/Swiss-Prot : 75 Fanconi-Bickel syndrome: Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Glycogen storage disease 11: A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. Wikipedia : 76 Glycogen storage disease type XI is a form of glycogen storage disease. It is also known as... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:227810 612933Human phenotypes related to Fanconi-Bickel Syndrome:32 (show all 29)
UMLS symptoms related to Fanconi-Bickel Syndrome:myalgia, muscle rigidity, muscle cramp, muscular stiffness |
Drugs for Fanconi-Bickel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Fanconi-Bickel Syndrome:41
Liver,
Bone,
Kidney,
Testes,
Spleen,
Brain,
Pancreas
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Articles related to Fanconi-Bickel Syndrome:(show top 50) (show all 58)
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UniProtKB/Swiss-Prot genetic disease variations for Fanconi-Bickel Syndrome:75
ClinVar genetic disease variations for Fanconi-Bickel Syndrome:6 (show top 50) (show all 200)
Copy number variations for Fanconi-Bickel Syndrome from CNVD:7
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Search
GEO
for disease gene expression data for Fanconi-Bickel Syndrome.
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Pathways related to Fanconi-Bickel Syndrome according to KEGG:37
Pathways related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:(show all 18)
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Biological processes related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:
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