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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Fanconi-Bickel syndrome | |
| Synonyms |
Glycogen storage disease due to GLUT2 deficiency Glycogenosis due to GLUT2 deficiency GSD due to GLUT2 deficiency |
|
| Definitions |
A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_2088 |
|
| alternative_term |
Glycogen storage disease due to GLUT2 deficiency Glycogenosis due to GLUT2 deficiency GSD due to GLUT2 deficiency
|
|
| definition |
A rare glycogen storage disease due to a deficiency in solute carrier family 2, facilitated glucose transporter member 2 and characterized by hepatorenal glycogen accumulation leading to severe renal tubular dysfunction and impaired glucose and galactose metabolism.
|
|
| definition_citation |
Orphanet
|
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=2088 |
|
| has_age_of_onset |
Infancy Neonatal
|
|
| has_inheritance |
Autosomal recessive
|
|
| hasDbXref |
UMLS:C3495427 ICD-10:E74.0 OMIM:227810 ICD-11:5C51.3
|
|
| label |
Fanconi-Bickel syndrome
|
|
| notation |
ORPHA:2088
|
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_79178 http://www.orpha.net/ORDO/Orphanet_93593 |
|
| prefixIRI |
ORDO:Orphanet_2088
|
|
| prefLabel |
Fanconi-Bickel syndrome
|
|
| present_in |
Israel AND has_birth_prevalence_average_value : 0.3 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_cases/families_value : 200.0 (Case) Worldwide AND has_point_prevalence_range : Unknown Specific population AND has_birth_prevalence_average_value : 0.5 AND has_birth_prevalence_range : 1-9 / 1 000 000
|
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_79178 http://www.orpha.net/ORDO/Orphanet_93593 |
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| subClassOf |
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