Mitchell-Riley Syndrome (MTCHRS)

Alias:
Mtchrs
Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia
Diabetes Neonatal with Pancreatic Hypoplasia Intestinal Atresia and Gallbladder Aplasia or Hypoplasia
Hypoplastic Pancreas-Intestinal Atresia-Hypoplastic Gallbalder Syndrome
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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
米切尔-莱利综合症,也称为mtchrs,与马丁内斯-弗里亚斯综合症和新生儿糖尿病有关,症状包括腹泻。与米切尔-莱利综合症有关的重要基因是RFX6(调节因子X6)。相关组织包括胰腺,相关表型为糖尿病和十二指肠闭锁。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
5
11

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

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
Year
IF
No Data Found!
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