Fructose-1,6-Bisphosphatase Deficiency (FBP1D)

Alias:
Fructose-1,6-Diphosphatase Deficiency
Fbpase Deficiency
Fructose-Biphosphatase Deficiency
Fbp1d
Fructose 1 Phosphate Aldolase Deficiency
Hereditary Fructose Intolerance Syndrome
Fructose 1,6 Diphosphatase Deficiency
Baker-Winegrad Disease
Fbp1 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fructose-1,6-Bisphosphatase Deficiency, also known as fructose-1,6-diphosphatase deficiency, is related to lactic acidosis and glycogen storage disease, and has symptoms including abdominal pain, icterus and lethargy. An important gene associated with Fructose-1,6-Bisphosphatase Deficiency is FBP1 (Fructose-Bisphosphatase 1), and among its related pathways/superpathways are Infectious disease and Metabolism. Affiliated tissues include monocytes and liver, and related phenotypes are hypoglycemia and lactic acidosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/1000000
13
109
43

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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