Glycerol Kinase Deficiency (GKD)

Alias:
Hyperglycerolemia
Isolated Glycerol Kinase Deficiency
Gk1 Deficiency
Gk Deficiency
Gkd
Glycerol Kinase Deficiency, Juvenile Form
Glycerol Kinase Deficiency, Adult Form
Inborn Glycerol Kinase Deficiency
Deficiency of Glycerol Kinase
Deficiency, Glycerol Kinase
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Glycerol Kinase Deficiency, also known as hyperglycerolemia, is related to chromosome xp21 deletion syndrome and adrenal hypoplasia, congenital, and has symptoms including seizures An important gene associated with Glycerol Kinase Deficiency is GK (Glycerol Kinase), and among its related pathways/superpathways is glycerol degradation. Affiliated tissues include eye and small intestine, and related phenotypes are intellectual disability and hypotonia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Child
--
20
139
17

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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