Arthrogryposis Syndrome

Alias:
Arthrogryposis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Arthrogryposis Syndrome, also known as arthrogryposis, is related to arthrogryposis, distal, type 1a and arthrogryposis, distal, type 2a. An important gene associated with Arthrogryposis Syndrome is GLE1 (GLE1 RNA Export Mediator), and among its related pathways/superpathways is Striated muscle contraction pathway. The drugs Tolvaptan and Temsirolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotype is mortality/aging.
Related ID:
ICD11:1692487835

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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5
32
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Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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