Fanconi-bickel syndrome

Preferred Label : Fanconi-bickel syndrome;

Symbol : FBS;

CISMeF acronym : FBS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hepatic glycogenosis with fanconi nephropathy; Glycogenosis, fanconi type; Fanconi syndrome with intestinal malabsorption and galactose intolerance; Pseudo-phlorizin diabetes; Hepatic glycogenosis with amino aciduria and glucosuria; Hepatorenal glycogenosis with renal fanconi syndrome; Glycogen storage disease XI;

Description : 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.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the glucose transporter 2 gene (SLC2A2, 138160.0002);

Laboratory abnormalities : Normal red cell galactose-1-phosphate uridyltransferase; Hypophosphatemia; Hypouricemia; High serum alkaline phosphatase; Hyperphosphaturia; Hypercalciuria; Hyperaminoaciduria; Generalized aminoaciduria; Increased red cell galactokinase; Proteinuria; Ketonuria; Hypokalemia; Impaired galactose metabolism; Glucosuria;

Prefixed ID : #227810;

Details

Origin ID

227810;

UMLS CUI

C3495427;

Automatic exact mappings (from CISMeF team)
- F-box protein 8 [HGNC gene]
- FBSS [MedDRA LLT]
- Fasting Blood Sugar Measurement [NCIt concept]
- Fetal Bovine Serum [NCIt concept]
- fibrosin [HGNC gene]
Currated CISMeF NLP mapping
- FANCONI SYNDROME [WHO-ART Included Term]
- Fanconi Syndrome [NCIt concept]
- Fanconi syndrome [MedDRA Preferred Term]
- Fanconi syndrome (disorder) [SNOMED CT concept]
- Fanconi-Bickel syndrome [ORDO Disease]
- Glycogen Storage Disease Type XI [NCIt concept]
- Glycogen storage disease due to GLUT2 deficiency [ICD-11 More detail]
- Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency [ORDO Disease]
- Glycogenosis with glucoaminophosphaturia (disorder) [SNOMED CT concept]
- fanconi bickel syndrome [MeSH concept]
- fanconi syndrome [MeSH Descriptor]
- fanconi syndrome [MeSH concept]
- fanconi syndrome, nos [SNOMED Notion]
- glycogenosis with glucoaminophosphaturia [SNOMED Notion]
False automatic mappings
- Fanconi syndrome [ICD-11 Sub-sub category]
Genes related to phenotype
- Solute carrier family 2 (facilitated glucose transporter), member 2 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Acidosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic acidosis [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Failure to thrive [HPO term]
- Generalized aminoaciduria [HPO term]
- Global developmental delay [HPO term]
- Glycosuria [HPO term]
- Hyperphosphaturia [HPO term]
- Hypokalemia [HPO term]
- Hypophosphatemia [HPO term]
- Hypouricemia [HPO term]
- Impairment of galactose metabolism [HPO term]
- Malabsorption [HPO term]
- Osteomalacia [HPO term]
- Poor appetite [HPO term]
- Poor weight gain [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Renal tubular dysfunction [HPO term]
ORDO concept(s)
- Fanconi-Bickel syndrome [ORDO Disease]
See also inter- (CISMeF)
- glycogen storage disease type 11 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fanconi-Bickel syndrome [ORDO Disease]
- Glycogen Storage Disease Type XI [NCIt concept]
- fanconi bickel syndrome [MeSH concept]

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