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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
Hypoinsulinemic Hypoglycemia with Hemihypertrophy (HIHGHH)
Alias:
Hypoinsulinemic Hypoglycemia and Body Hemihypertrophy
Hihghh
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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
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:
MALACARDS:HYP524
OMIM:240900
MESH:D007003
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
7
36
3
HYP524
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!
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