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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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
高胰岛素血症家族性4型,也称为谷氨酸脱氢酶缺乏引起的高胰岛素血症,与3-羟基酰基辅酶A脱氢酶缺乏和高胰岛素血症有关。与高胰岛素血症家族性4型相关的重要基因是HADH(羟基酰基辅酶A脱氢酶),其相关通路/超级通路包括EML4和NUDC在有丝分裂纺锤体形成和DNA损伤中的作用。在该疾病的背景下,已提到的药物有奥曲肽和生长抑素。相关组织包括胰腺和肝脏,相关表型为3-羟基酰基辅酶A脱氢酶水平降低和新生儿肌张力低下。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
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12
77
12

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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