Alpha-Thalassemia/impaired Intellectual Development Syndrome, X-Linked (ATRX)

Alias:
Atr-X Syndrome
Atr-X
Atrx
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type, X-Linked
Alpha-Thalassemia/mental Retardation Syndrome, Nondeletion Type
Alpha-Thalassemia/impaired Intellectual Development Syndrome
Alpha Thalassemia-X-Linked Intellectual Disability Syndrome
Alpha-Thalassemia/mental Retardation Syndrome, X-Linked
X-Linked Alpha Thalassemia Mental Retardation Syndrome
Thalassemia, Alpha/mental Retardation Syndrome
Alpha Thalassemia-Mental Retardation Syndrome
Atr, Nondeletion Type
Atr Nondeletion Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Alpha-Thalassemia/impaired Intellectual Development Syndrome, X-Linked, also known as atr-x syndrome, is related to alpha-thalassemia and werner syndrome, and has symptoms including constipation An important gene associated with Alpha-Thalassemia/impaired Intellectual Development Syndrome, X-Linked is ATRX (ATRX Chromatin Remodeler), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include tongue and bone marrow, and related phenotypes are intellectual disability and seizure
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Unknown
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2
15
63

Medical Symptom

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

Gene & Mutation

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Score
Mutations
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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PMID
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IF
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