Ogden Syndrome (OGDNS)

Alias:
N-Terminal Acetyltransferase Deficiency
Ogdns
Natd
Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome
X-Linked Malformation and Infantile Lethality Syndrome
N-Alpha-Acetyltransferase
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ogden Syndrome, also known as n-terminal acetyltransferase deficiency, is related to microphthalmia, syndromic 1 and aortic aneurysm, familial abdominal, 1. An important gene associated with Ogden Syndrome is NAA10 (N-Alpha-Acetyltransferase 10, NatA Catalytic Subunit), and among its related pathways/superpathways is Ac/N-end rule pathway. Affiliated tissues include skin and testis, and related phenotypes are scoliosis and global developmental delay
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Newborn
<1/1000000
24
118
10

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

Name
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
No Data Found!
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