Mulibrey Nanism (MUL)

Mulibrey Nanism(来自ICD-11)
别称:
Mul
Muscle-Liver-Brain-Eye Nanism
Pericardial Constriction and Growth Failure
Mulibrey Growth Disorder
Perheentupa Syndrome
Mulibrey Nanism Syndrome
Pericardial Constriction with Growth Failure
Nanism Mulibrey
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Mulibrey Nanism, also known as mul, is related to peroxisomal disease and silver-russell syndrome 1. An important gene associated with Mulibrey Nanism is TRIM37 (Tripartite Motif Containing 37), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Ether lipid biosynthesis. Affiliated tissues include liver and brain, and related phenotypes are macrocephaly and short stature
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基础信息

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参考文献
MALACARDS
AR
Newborn
1-9/100000
24
111
22

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