Kagami-Ogata Syndrome (KOS)

Alias:
Paternal Uniparental Disomy of Chromosome 14
Uniparental Disomy, Paternal, Chromosome 14
Kos
Kagami-Ogata Syndrome Due to Maternal 14q32.2 Hypermethylation
Kagami-Ogata Syndrome Due to Maternal 14q32.2 Microdeletion
Maternal Monosomy 14q32.2
Maternal Del(14)(q32.2)
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Kagami-Ogata Syndrome, also known as paternal uniparental disomy of chromosome 14, is related to kagami-ogata syndrome due to paternal uniparental disomy of chromosome 14 and beckwith-wiedemann syndrome. An important gene associated with Kagami-Ogata Syndrome is KAOGS (Kagami-Ogata Syndrome). Affiliated tissues include placenta and heart, and related phenotypes are intellectual disability and dysphagia

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
19
111
11

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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