Hypoinsulinemic Hypoglycemia with Hemihypertrophy (HIHGHH)

Alias:
Hypoinsulinemic Hypoglycemia and Body Hemihypertrophy
Hihghh
Favorite
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
低胰岛素血症伴半身肥大,又称低胰岛素血症和半身肥大,与常染色体显性智力发育障碍19和先天性脂肪瘤过度生长、血管畸形和表皮痣有关。与低胰岛素血症伴半身肥大有关的重要基因是AKT2(AKT丝氨酸/苏氨酸激酶2),其相关通路/超级通路包括Notch信号通路和TGF-β信号通路。相关表型为半身肥大和男性乳腺发育。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
7
36
3

Medical Symptom

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

Gene & Mutation

#
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!
微信
信息比对
科研助手
使用教程
回到顶部