Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 (MGRISCE2)

Alias:
Mgrisce2
Intrauterine Growth Restriction-Congenital Multiple Cafe-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2, also known as mgrisce2, is related to baller-gerold syndrome and rothmund-thomson syndrome, type 2. An important gene associated with Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 is TOP3A (DNA Topoisomerase III Alpha), and among its related pathways/superpathways are Homology Directed Repair and Regulation of TP53 Activity. Affiliated tissues include skin and skeletal muscle, and related phenotypes are microcephaly and short stature
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
2
6
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

Category
Name
MGI
Related Gene
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Publications
No data available

References Literature

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