Mulibrey Nanism (MUL)

Alias:
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
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/100000
24
111
22

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
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IF
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