Donohue Syndrome (LEPRCH)

Alias:
Leprechaunism
Leprechaunism Syndrome
Donohue's Syndrome
Leprch
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Donohue Syndrome, also known as leprechaunism, is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and hypertrichosis, and has symptoms including elfin facies and female breast hyperplasia. An important gene associated with Donohue Syndrome is INSR (Insulin Receptor), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include skin and heart, and related phenotypes are hyperkeratosis and postnatal growth retardation
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
<1/1000000
15
221
43

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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