Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome (MORMS)

Alias:
Morm Syndrome
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome
Intellectual Disability-Truncal Obesity-Retinal Dystrophy-Micropenis Syndrome
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis
Morms
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, and Micropenis
Penile Diseases
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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
智力发育障碍、躯干性肥胖、视网膜病变和小阴茎综合症,也被称为 morm 综合症,与巴德-比尔德综合症 1 和约伯特综合症 1 有关,症状包括盆腔疼痛。与智力发育障碍、躯干性肥胖、视网膜病变和小阴茎综合症有关的重要基因是 INPP5E (Inositol Polyphosphate-5-Phosphatase E)。在该疾病的背景下,提到的药物有利多卡因和镇静催眠药。相关组织包括眼睛和视网膜,相关表型包括语言和语言发展延迟以及视觉障碍。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
10
2

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

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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