Hyperinsulinemic Hypoglycemia, Familial, 6 (HHF6)

Alias:
Hyperinsulinism-Hyperammonemia Syndrome
Hi/ha Syndrome
Hhf6
Familial Hyperinsulinemic Hypoglycemia 6
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperinsulinemic Hypoglycemia, Familial, 6, also known as hyperinsulinism-hyperammonemia syndrome, is related to hyperinsulinemic hypoglycemia, familial, 2 and hyperinsulinism. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 6 is GLUD1 (Glutamate Dehydrogenase 1), and among its related pathways/superpathways are Metabolism and Disorders of transmembrane transporters. Affiliated tissues include pancreatic islet and liver, and related phenotypes are reactive hypoglycemia and asymptomatic hyperammonemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
12
76
24

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
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IF
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