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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
Meconium Ileus (MECIL)
Alias:
Intestinal Obstruction in the Newborn Due to Guanylate Cyclase 2c Deficiency
Intestinal Obstruction Co-Occurrent and Due to Decreased Peristalsis
Meconium Ileus Due to Guanylate Cyclase 2c Deficiency
Meconium Ileus Nos
Ileus
Mecil
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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
胎粪性小肠梗阻,又称因鸟苷酸环化酶2c缺乏导致的新生儿肠梗阻,与肠梗阻和囊性纤维化有关,症状包括肠痉挛和胃胀。与胎粪性小肠梗阻有关的重要基因是GUCY2C(鸟苷酸环化酶2c)。Lidocaine和Gabapentin已在该疾病的背景下被提及。附属组织包括结肠和肝脏,相关表型为胎粪性小肠梗阻和慢性腹泻。
Related ID:
MALACARDS:MCN017
OMIM:614665
MESH:D045823
ICD11:1191558345
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
3
34
4
MCN017
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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