Fanconi-Bickel Syndrome

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OMIM 57 227810 612933 Orphanet 59 ORPHA2088 ORPHA284426 ICD10 via Orphanet 34 E74.0 UMLS via Orphanet 74 C3495427 C2931743 MedGen 42 C2931743 C3495427 C2752022

MeSH 44 D006008 KEGG 37 H01946 H01947 SNOMED-CT via HPO 69 258211005 236423003 42399005 95568003 224958001 36440009 432788009 51387008 16046003 4996001 4598005 166690008 43339004 48165008 45154002 22450000 240131006 89010004 41931001 60728008 68962001 55300003 4519003 267044007 248316006 64379006 more UMLS 73 C3495427 C3536827 C2931743

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 neonatal diabetes mellitus and diabetes mellitus, and has symptoms including muscle cramp, muscle rigidity and muscular stiffness. 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, testes and kidney, and related phenotypes are renal tubular dysfunction 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...

Clinical features from OMIM:

227810 612933

Search NIH Clinical Center for Fanconi-Bickel Syndrome

Search GEO for disease gene expression data for Fanconi-Bickel Syndrome.