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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
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:
MALACARDS:HYP271
OMIM:609975
MESH:D006946
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
12
77
12
HYP271
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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No data available
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Name
CAS Number
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No data available
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Category
Name
MGI
Related Gene
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No data available
References Literature
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IF
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