Hyperinsulinemic Hypoglycemia, Familial, 4 (HHF4)

Alias:
Hyperinsulinism Due to Glutamodehydrogenase Deficiency
Hyperinsulinemic Hypoglycemia Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinism Due to Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinism Due to Schad Deficiency
Hhf4
Familial Hyperinsulinemic Hypoglycemia 4
Schad Deficiency
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Congenital Hyperinsulinism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperinsulinemic Hypoglycemia, Familial, 4, also known as hyperinsulinism due to glutamodehydrogenase deficiency, is related to 3-hydroxyacyl-coa dehydrogenase deficiency and hyperinsulinemic hypoglycemia. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 4 is HADH (Hydroxyacyl-CoA Dehydrogenase), and among its related pathways/superpathways are EML4 and NUDC in mitotic spindle formation and DNA Damage. The drugs Octreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pancreas and liver, and related phenotypes are decreased 3-hydroxyacyl-coa dehydrogenase level and neonatal hypotonia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
12
77
12

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
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Publications
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References Literature

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