Adie Pupil (ADIEP)

Alias:
Adie Syndrome
Holmes-Adie Syndrome
Tonic Pupil-Tendon Areflexia Syndrome
Adie's Pupil or Syndrome
Poorly Reacting Pupils
Adie's Pupil Syndrome
Adie's Syndrome
Tonic Pupil
Adiep
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Adie Pupil, also known as adie syndrome, is related to charcot-marie-tooth disease, axonal, type 2j and temporal arteritis, and has symptoms including tonic pupil An important gene associated with Adie Pupil is SNORD79 (Small Nucleolar RNA, C/D Box 79). Affiliated tissues include eye and dorsal root ganglion, and related phenotypes are hyporeflexia and tonic pupil
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
1-9/100000
6
34
4

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
Year
IF
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