Mirage Syndrome (MIRAGE)

Alias:
Mirage
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Phenotypes-Enteropathy Syndrome
Myelodysplasia-Infection-Restriction of Growth-Adrenal Hypoplasia-Genital Anomalies-Enteropathy Syndrome
Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, Enteropathy
Bone Marrow 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
幻影综合症,又名幻影,与全血细胞减少和骨髓增生异常综合症有关。与幻影综合症有关的重要基因是SAMD9(无活性α结构域包含9)。在该疾病的背景下,已提到的药物有唑来膦酸和胆钙化醇。附属组织包括骨髓和骨,相关表型为全球发育延迟和血小板减少症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
2
5
26

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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